7-55086755-G-C |
c.-216G>C |
- |
5-UTRSNV |
1/28 |
- |
24 |
7-55086755-G-T |
c.-216G>T |
- |
5-UTRSNV |
1/28 |
- |
24 |
7-55086780-A-C |
c.-191A>C |
- |
5-UTRSNV |
1/28 |
- |
17 |
7-55086972-ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG-A |
c.2_60del |
p.Met1_?20 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
1/28 |
- |
1 |
7-55086974-CG-GA |
c.4_5delinsGA |
p.Arg2Glu |
Missense |
1/28 |
- |
1 |
7-55086975-G-A |
c.5G>A |
p.Arg2Gln |
Missense |
1/28 |
- |
1 |
7-55086993-G-GCCAGCGTGG |
c.23_24insCCAGCGTGG |
p.Gly8_Ala9insGlnArgGly |
InFrameInsertion |
1/28 |
- |
1 |
7-55086994-G-GTA |
c.24_25insTA |
p.Ala9* |
Nonsense |
1/28 |
- |
1 |
7-55086998-GCG-ATC |
c.28_30delinsATC |
p.Ala10Ile |
Missense |
1/28 |
- |
1 |
7-55086998-GC-AA |
c.28_29delinsAA |
p.Ala10Lys |
Missense |
1/28 |
- |
1 |
7-55086998-GCG-TGT |
c.28_30delinsTGT |
p.Ala10Cys |
Missense |
1/28 |
- |
2 |
7-55086998-GC-CT |
c.28_29delinsCT |
p.Ala10Leu |
Missense |
1/28 |
- |
1 |
7-55086998-GCG-TTT |
c.28_30delinsTTT |
p.Ala10Phe |
Missense |
1/28 |
- |
2 |
7-55087000-G-T |
c.30G>T |
p.Ala10Ala |
Synonymous |
1/28 |
- |
2 |
7-55087000-G-A |
c.30G>A |
p.Ala10Ala |
Synonymous |
1/28 |
- |
2 |
7-55087000-G-C |
c.30G>C |
p.Ala10Ala |
Synonymous |
1/28 |
- |
2 |
7-55087001-CT-GC |
c.31_32delinsGC |
p.Leu11Ala |
Missense |
1/28 |
- |
1 |
7-55087001-CT-GA |
c.31_32delinsGA |
p.Leu11Asp |
Missense |
1/28 |
- |
1 |
7-55087004-C-A |
c.34C>A |
p.Leu12Met |
Missense |
1/28 |
- |
1 |
7-55087004-CTG-TGT |
c.34_36delinsTGT |
p.Leu12Cys |
Missense |
1/28 |
- |
1 |
7-55087004-CTG-GAC |
c.34_36delinsGAC |
p.Leu12Asp |
Missense |
1/28 |
- |
1 |
7-55087007-G-A |
c.37G>A |
p.Ala13Thr |
Missense |
1/28 |
- |
1 |
7-55087007-G-T |
c.37G>T |
p.Ala13Ser |
Missense |
1/28 |
- |
2 |
7-55087008-C-T |
c.38C>T |
p.Ala13Val |
Missense |
1/28 |
- |
2 |
7-55087008-CG-AC |
c.38_39delinsAC |
p.Ala13Asp |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-ATC |
c.40_42delinsATC |
p.Leu14Ile |
Missense |
1/28 |
- |
1 |
7-55087010-CTG-GAC |
c.40_42delinsGAC |
p.Leu14Asp |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GA |
c.40_41delinsGA |
p.Leu14Glu |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GC |
c.40_41delinsGC |
p.Leu14Ala |
Missense |
1/28 |
- |
1 |
7-55087010-CT-GG |
c.40_41delinsGG |
p.Leu14Gly |
Missense |
1/28 |
- |
1 |
7-55087011-TG-AT |
c.41_42delinsAT |
p.Leu14His |
Missense |
1/28 |
- |
2 |
7-55087013-CTG-ATC |
c.43_45delinsATC |
p.Leu15Ile |
Missense |
1/28 |
- |
1 |
7-55087013-CT-GG |
c.43_44delinsGG |
p.Leu15Gly |
Missense |
1/28 |
- |
1 |
7-55087013-CT-GC |
c.43_44delinsGC |
p.Leu15Ala |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-TTT |
c.43_45delinsTTT |
p.Leu15Phe |
Missense |
1/28 |
- |
1 |
7-55087013-CTG-GAC |
c.43_45delinsGAC |
p.Leu15Asp |
Missense |
1/28 |
- |
1 |
7-55087013-CT-GA |
c.43_44delinsGA |
p.Leu15Glu |
Missense |
1/28 |
- |
2 |
7-55087013-C-A |
c.43C>A |
p.Leu15Met |
Missense |
1/28 |
- |
1 |
7-55087014-T-C |
c.44T>C |
p.Leu15Pro |
Missense |
1/28 |
- |
1 |
7-55087014-TG-AT |
c.44_45delinsAT |
p.Leu15His |
Missense |
1/28 |
- |
1 |
7-55087017-C-G |
c.47C>G |
p.Ala16Gly |
Missense |
1/28 |
- |
2 |
7-55087017-C-T |
c.47C>T |
p.Ala16Val |
Missense |
1/28 |
- |
2 |
7-55087018-T-C |
c.48T>C |
p.Ala16Ala |
Synonymous |
1/28 |
- |
1 |
7-55087018-T-A |
c.48T>A |
p.Ala16Ala |
Synonymous |
1/28 |
- |
1 |
7-55087018-T-G |
c.48T>G |
p.Ala16Ala |
Synonymous |
1/28 |
- |
1 |
7-55087020-C-A |
c.50C>A |
p.Ala17Glu |
Missense |
1/28 |
- |
1 |
7-55087026-G-C |
c.56G>C |
p.Cys19Ser |
Missense |
1/28 |
- |
2 |
7-55087025-T-A |
c.55T>A |
p.Cys19Ser |
Missense |
1/28 |
- |
2 |
7-55087025-TGC-ATG |
c.55_57delinsATG |
p.Cys19Met |
Missense |
1/28 |
- |
1 |
7-55087025-T-G |
c.55T>G |
p.Cys19Gly |
Missense |
1/28 |
- |
1 |
7-55087027-C-A |
c.57C>A |
p.Cys19* |
Nonsense |
1/28 |
- |
2 |
7-55087027-C-T |
c.57C>T |
p.Cys19Cys |
Synonymous |
1/28 |
- |
1 |
7-55087028-CCG-GAC |
c.58_60delinsGAC |
p.Pro20Asp |
Missense |
1/28 |
- |
1 |
7-55087028-C-A |
c.58C>A |
p.Pro20Thr |
Missense |
1/28 |
- |
1 |
7-55087028-CC-GA |
c.58_59delinsGA |
p.Pro20Glu |
Missense |
1/28 |
- |
1 |
7-55087028-CC-AA |
c.58_59delinsAA |
p.Pro20Lys |
Missense |
1/28 |
- |
1 |
7-55087028-CCG-TGT |
c.58_60delinsTGT |
p.Pro20Cys |
Missense |
1/28 |
- |
1 |
7-55087031-GCG-TTT |
c.61_63delinsTTT |
p.Ala21Phe |
Missense |
1/28 |
- |
2 |
7-55087032-C-A |
c.62C>A |
p.Ala21Glu |
Missense |
1/28 |
- |
1 |
7-55087034-AG-GA |
c.64_65delinsGA |
p.Ser22Asp |
Missense |
1/28 |
- |
1 |
7-55087034-A-G |
c.64A>G |
p.Ser22Gly |
Missense |
1/28 |
- |
1 |
7-55087034-AG-TT |
c.64_65delinsTT |
p.Ser22Phe |
Missense |
1/28 |
- |
1 |
7-55087034-AGT-GAG |
c.64_66delinsGAG |
p.Ser22Glu |
Missense |
1/28 |
- |
1 |
7-55087035-G-A |
c.65G>A |
p.Ser22Asn |
Missense |
1/28 |
- |
6 |
7-55087035-GT-TG |
c.65_66delinsTG |
p.Ser22Met |
Missense |
1/28 |
- |
1 |
7-55087037-C-G |
c.67C>G |
p.Arg23Gly |
Missense |
1/28 |
- |
1 |
7-55087038-GG-AT |
c.68_69delinsAT |
p.Arg23His |
Missense |
1/28 |
- |
1 |
7-55087040-GC-TT |
c.70_71delinsTT |
p.Ala24Phe |
Missense |
1/28 |
- |
1 |
7-55087042-T-G |
c.72T>G |
p.Ala24Ala |
Synonymous |
1/28 |
- |
3 |
7-55087042-T-C |
c.72T>C |
p.Ala24Ala |
Synonymous |
1/28 |
- |
3 |
7-55087042-T-A |
c.72T>A |
p.Ala24Ala |
Synonymous |
1/28 |
- |
3 |
7-55087043-CTG-TGT |
c.73_75delinsTGT |
p.Leu25Cys |
Missense |
1/28 |
- |
1 |
7-55087043-C-T |
c.73C>T |
p.Leu25Leu |
Synonymous |
1/28 |
- |
1 |
7-55087046-GAG-TGT |
c.76_78delinsTGT |
p.Glu26Cys |
Missense |
1/28 |
- |
1 |
7-55087049-G-C |
c.79G>C |
p.Glu27Gln |
Missense |
1/28 |
- |
1 |
7-55087051-A-AGGC |
c.81_82insGGC |
p.Glu27_Lys28insGly |
InFrameInsertion |
1/28 |
- |
1 |
7-55087052-AAG-TAT |
c.82_84delinsTAT |
p.Lys28Tyr |
Missense |
1/28 |
- |
1 |
7-55087052-AA-CT |
c.82_83delinsCT |
p.Lys28Leu |
Missense |
1/28 |
- |
1 |
7-55087052-AA-GC |
c.82_83delinsGC |
p.Lys28Ala |
Missense |
1/28 |
- |
1 |
7-55087053-A-G |
c.83A>G |
p.Lys28Arg |
Missense |
1/28 |
- |
1 |
7-55087056-A-G |
c.86A>G |
p.Lys29Arg |
Missense |
1/28 |
- |
4 |
7-55087139-G-T |
c.88+81G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55088415-T-C |
c.88+1357T>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55088508-T-C |
c.88+1450T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089963-C-A |
c.88+2905C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55089963-C-G |
c.88+2905C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55090379-T-C |
c.88+3321T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55095197-A-G |
c.88+8139A>G |
- |
IntronicSNV |
- |
1/27 |
14 |
7-55097774-A-G |
c.88+10716A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55101501-G-C |
c.88+14443G>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55101501-G-T |
c.88+14443G>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55105320-A-G |
c.88+18262A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55109177-A-T |
c.88+22119A>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55112410-G-C |
c.88+25352G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112410-G-A |
c.88+25352G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112827-G-C |
c.88+25769G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55112827-G-A |
c.88+25769G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55114316-A-G |
c.88+27258A>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55116555-T-A |
c.88+29497T>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55116707-G-A |
c.88+29649G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55119501-C-G |
c.88+32443C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55122650-G-A |
c.88+35592G>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55123968-C-A |
c.88+36910C>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55123968-C-T |
c.88+36910C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55124319-G-A |
c.88+37261G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55124701-T-C |
c.88+37643T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55124701-T-A |
c.88+37643T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55128207-A-T |
c.88+41149A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55128207-A-G |
c.88+41149A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55128731-A-G |
c.88+41673A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55132080-C-T |
c.88+45022C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134819-A-G |
c.88+47761A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55134872-A-G |
c.88+47814A>G |
- |
IntronicSNV |
- |
1/27 |
10 |
7-55137888-G-A |
c.88+50830G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55138388-C-T |
c.88+51330C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55140296-C-T |
c.88+53238C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55140398-T-C |
c.88+53340T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55140786-G-A |
c.88+53728G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55141317-T-C |
c.88+54259T>C |
- |
IntronicSNV |
- |
1/27 |
9 |
7-55141540-T-C |
c.88+54482T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55142435-G-A |
c.88+55377G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55142654-A-G |
c.88+55596A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55144156-T-C |
c.88+57098T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55144156-T-A |
c.88+57098T>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55144430-A-G |
c.88+57372A>G |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55144833-C-T |
c.88+57775C>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55145334-G-A |
c.88+58276G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55145334-G-C |
c.88+58276G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55145382-C-T |
c.88+58324C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55147478-G-A |
c.88+60420G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55148715-G-C |
c.89-61264G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55150822-A-T |
c.89-59157A>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55151537-T-C |
c.89-58442T>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55151886-G-C |
c.89-58093G>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55151886-G-T |
c.89-58093G>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55152337-G-A |
c.89-57642G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55152667-G-A |
c.89-57312G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55153164-T-C |
c.89-56815T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55153237-G-A |
c.89-56742G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55154381-G-A |
c.89-55598G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154586-G-C |
c.89-55393G>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154586-G-A |
c.89-55393G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154636-T-C |
c.89-55343T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55154688-A-C |
c.89-55291A>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55154688-A-T |
c.89-55291A>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55156071-G-A |
c.89-53908G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55156419-T-A |
c.89-53560T>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55159349-A-T |
c.89-50630A>T |
- |
IntronicSNV |
- |
1/27 |
32 |
7-55159349-A-G |
c.89-50630A>G |
- |
IntronicSNV |
- |
1/27 |
32 |
7-55160538-A-G |
c.89-49441A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160995-T-C |
c.89-48984T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55160995-T-A |
c.89-48984T>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161043-G-C |
c.89-48936G>C |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55161043-G-A |
c.89-48936G>A |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55161043-G-T |
c.89-48936G>T |
- |
IntronicSNV |
- |
1/27 |
4 |
7-55161156-G-A |
c.89-48823G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55161746-T-C |
c.89-48233T>C |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55162011-C-T |
c.89-47968C>T |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55162305-A-G |
c.89-47674A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55162336-T-C |
c.89-47643T>C |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55163255-T-C |
c.89-46724T>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55168692-A-G |
c.89-41287A>G |
- |
IntronicSNV |
- |
1/27 |
6 |
7-55168912-C-T |
c.89-41067C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55171190-G-A |
c.89-38789G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55171629-A-G |
c.89-38350A>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55172768-T-C |
c.89-37211T>C |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55173675-C-T |
c.89-36304C>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55173675-C-G |
c.89-36304C>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55174071-C-G |
c.89-35908C>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55174342-C-A |
c.89-35637C>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55175876-A-G |
c.89-34103A>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55177869-C-T |
c.89-32110C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55178579-T-G |
c.89-31400T>G |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55179209-G-T |
c.89-30770G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179209-G-A |
c.89-30770G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179400-T-G |
c.89-30579T>G |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179844-G-A |
c.89-30135G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55179844-G-T |
c.89-30135G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55180110-C-A |
c.89-29869C>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55181442-G-T |
c.89-28537G>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55181442-G-A |
c.89-28537G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55185890-C-T |
c.89-24089C>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55187992-G-A |
c.89-21987G>A |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55189215-G-T |
c.89-20764G>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55192256-A-C |
c.89-17723A>C |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55192963-T-G |
c.89-17016T>G |
- |
IntronicSNV |
- |
1/27 |
8 |
7-55195344-A-T |
c.89-14635A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55195625-G-A |
c.89-14354G>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55197390-C-T |
c.89-12589C>T |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55200512-G-T |
c.89-9467G>T |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55200512-G-A |
c.89-9467G>A |
- |
IntronicSNV |
- |
1/27 |
3 |
7-55201776-G-C |
c.89-8203G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55201776-G-A |
c.89-8203G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55202598-G-A |
c.89-7381G>A |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55203838-G-A |
c.89-6141G>A |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55203838-G-C |
c.89-6141G>C |
- |
IntronicSNV |
- |
1/27 |
1 |
7-55205930-A-T |
c.89-4049A>T |
- |
IntronicSNV |
- |
1/27 |
2 |
7-55209637-C-A |
c.89-342C>A |
- |
IntronicSNV |
- |
1/27 |
5 |
7-55209979-GTTTGCCAAGGCACGAGTAACAAGCTCACGCAGTTGGGCACTTTTGAAGATCATTTTCTC-G |
c.89_147del |
p.Val30Glufs*8 |
Unclassified |
2/28 |
- |
3 |
7-55209984-CAA-AAC |
c.94_96delinsAAC |
p.Gln32Asn |
Missense |
2/28 |
- |
1 |
7-55209984-CA-GC |
c.94_95delinsGC |
p.Gln32Ala |
Missense |
2/28 |
- |
1 |
7-55209985-A-G |
c.95A>G |
p.Gln32Arg |
Missense |
2/28 |
- |
1 |
7-55209987-G-A |
c.97G>A |
p.Gly33Ser |
Missense |
2/28 |
- |
1 |
7-55209987-GGC-AAG |
c.97_99delinsAAG |
p.Gly33Lys |
Missense |
2/28 |
- |
1 |
7-55209988-G-A |
c.98G>A |
p.Gly33Asp |
Missense |
2/28 |
- |
1 |
7-55209990-ACG-TGT |
c.100_102delinsTGT |
p.Thr34Cys |
Missense |
2/28 |
- |
1 |
7-55209990-A-G |
c.100A>G |
p.Thr34Ala |
Missense |
2/28 |
- |
4 |
7-55209991-CG-AC |
c.101_102delinsAC |
p.Thr34Asn |
Missense |
2/28 |
- |
3 |
7-55209993-AG-GA |
c.103_104delinsGA |
p.Ser35Asp |
Missense |
2/28 |
- |
2 |
7-55209993-AG-GC |
c.103_104delinsGC |
p.Ser35Ala |
Missense |
2/28 |
- |
2 |
7-55209993-A-T |
c.103A>T |
p.Ser35Cys |
Missense |
2/28 |
- |
1 |
7-55209994-G-A |
c.104G>A |
p.Ser35Asn |
Missense |
2/28 |
- |
1 |
7-55209996-AAC-CAA |
c.106_108delinsCAA |
p.Asn36Gln |
Missense |
2/28 |
- |
1 |
7-55210000-A-G |
c.110A>G |
p.Lys37Arg |
Missense |
2/28 |
- |
1 |
7-55210002-C-T |
c.112C>T |
p.Leu38Phe |
Missense |
2/28 |
- |
3 |
7-55210002-CT-GA |
c.112_113delinsGA |
p.Leu38Asp |
Missense |
2/28 |
- |
1 |
7-55210006-CG-AC |
c.116_117delinsAC |
p.Thr39Asn |
Missense |
2/28 |
- |
1 |
7-55210009-A-C |
c.119A>C |
p.Gln40Pro |
Missense |
2/28 |
- |
1 |
7-55210015-G-T |
c.125G>T |
p.Gly42Val |
Missense |
2/28 |
- |
1 |
7-55210017-AC-GA |
c.127_128delinsGA |
p.Thr43Asp |
Missense |
2/28 |
- |
1 |
7-55210021-T-G |
c.131T>G |
p.Phe44Cys |
Missense |
2/28 |
- |
1 |
7-55210022-T-C |
c.132T>C |
p.Phe44Phe |
Synonymous |
2/28 |
- |
1 |
7-55210024-A-C |
c.134A>C |
p.Glu45Ala |
Missense |
2/28 |
- |
1 |
7-55210026-G-A |
c.136G>A |
p.Asp46Asn |
Missense |
2/28 |
- |
2 |
7-55210032-TTT-CAA |
c.142_144delinsCAA |
p.Phe48Gln |
Missense |
2/28 |
- |
1 |
7-55210032-TT-GC |
c.142_143delinsGC |
p.Phe48Ala |
Missense |
2/28 |
- |
1 |
7-55210033-T-A |
c.143T>A |
p.Phe48Tyr |
Missense |
2/28 |
- |
1 |
7-55210035-C-T |
c.145C>T |
p.Leu49Phe |
Missense |
2/28 |
- |
1 |
7-55210038-AGC-GAG |
c.148_150delinsGAG |
p.Ser50Glu |
Missense |
2/28 |
- |
1 |
7-55210038-AG-GC |
c.148_149delinsGC |
p.Ser50Ala |
Missense |
2/28 |
- |
1 |
7-55210044-CCAGAGGATGTTCAATAACTGTGAGGTGGTCCTTGGGAATTTGGAAATTACCTATGTGCA-C |
c.154_212del |
p.Gln52Glufs*4 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/28 |
- |
1 |
7-55210058-T-A |
c.168T>A |
p.Asn56Lys |
Missense |
2/28 |
- |
1 |
7-55210058-T-G |
c.168T>G |
p.Asn56Lys |
Missense |
2/28 |
- |
1 |
7-55210062-TG-GC |
c.172_173delinsGC |
p.Cys58Ala |
Missense |
2/28 |
- |
1 |
7-55210064-T-C |
c.174T>C |
p.Cys58Cys |
Synonymous |
2/28 |
- |
1 |
7-55210072-T-C |
c.182T>C |
p.Val61Ala |
Missense |
2/28 |
- |
1 |
7-55210075-T-G |
c.185T>G |
p.Leu62Arg |
Missense |
2/28 |
- |
5 |
7-55210077-GG-AA |
c.187_188delinsAA |
p.Gly63Lys |
Missense |
2/28 |
- |
1 |
7-55210077-G-C |
c.187G>C |
p.Gly63Arg |
Missense |
2/28 |
- |
3 |
7-55210077-G-A |
c.187G>A |
p.Gly63Arg |
Missense |
2/28 |
- |
3 |
7-55210083-TT-GC |
c.193_194delinsGC |
p.Leu65Ala |
Missense |
2/28 |
- |
1 |
7-55210083-TTG-CAT |
c.193_195delinsCAT |
p.Leu65His |
Missense |
2/28 |
- |
1 |
7-55210083-TT-AC |
c.193_194delinsAC |
p.Leu65Thr |
Missense |
2/28 |
- |
1 |
7-55210086-G-A |
c.196G>A |
p.Glu66Lys |
Missense |
2/28 |
- |
1 |
7-55210087-A-C |
c.197A>C |
p.Glu66Ala |
Missense |
2/28 |
- |
1 |
7-55210088-A-G |
c.198A>G |
p.Glu66Glu |
Synonymous |
2/28 |
- |
1 |
7-55210091-T-A |
c.201T>A |
p.Ile67Ile |
Synonymous |
2/28 |
- |
1 |
7-55210091-T-C |
c.201T>C |
p.Ile67Ile |
Synonymous |
2/28 |
- |
1 |
7-55210092-AC-TT |
c.202_203delinsTT |
p.Thr68Phe |
Missense |
2/28 |
- |
2 |
7-55210092-ACC-GAG |
c.202_204delinsGAG |
p.Thr68Glu |
Missense |
2/28 |
- |
1 |
7-55210093-CC-TG |
c.203_204delinsTG |
p.Thr68Met |
Missense |
2/28 |
- |
1 |
7-55210098-G-C |
c.208G>C |
p.Val70Leu |
Missense |
2/28 |
- |
1 |
7-55210098-G-T |
c.208G>T |
p.Val70Leu |
Missense |
2/28 |
- |
1 |
7-55210099-T-C |
c.209T>C |
p.Val70Ala |
Missense |
2/28 |
- |
1 |
7-55210102-A-T |
c.212A>T |
p.Gln71Leu |
Missense |
2/28 |
- |
9 |
7-55210104-AG-GC |
c.214_215delinsGC |
p.Arg72Ala |
Missense |
2/28 |
- |
2 |
7-55210104-AG-CC |
c.214_215delinsCC |
p.Arg72Pro |
Missense |
2/28 |
- |
19 |
7-55210105-G-A |
c.215G>A |
p.Arg72Lys |
Missense |
2/28 |
- |
1 |
7-55210110-TA-GC |
c.220_221delinsGC |
p.Tyr74Ala |
Missense |
2/28 |
- |
1 |
7-55210111-A-G |
c.221A>G |
p.Tyr74Cys |
Missense |
2/28 |
- |
1 |
7-55210115-T-C |
c.225T>C |
p.Asp75Asp |
Synonymous |
2/28 |
- |
2 |
7-55210119-T-G |
c.229T>G |
p.Ser77Ala |
Missense |
2/28 |
- |
1 |
7-55210122-TTC-GAG |
c.232_234delinsGAG |
p.Phe78Glu |
Missense |
2/28 |
- |
1 |
7-55210126-T-G |
c.236T>G |
p.Leu79* |
Nonsense |
2/28 |
- |
1 |
7-55210126-T-A |
c.236T>A |
p.Leu79* |
Nonsense |
2/28 |
- |
1 |
7-55210129-A-C |
c.239A>C |
p.Lys80Thr |
Missense |
2/28 |
- |
1 |
7-55210129-A-G |
c.239A>G |
p.Lys80Arg |
Missense |
2/28 |
- |
1 |
7-55210998-AC-GA |
c.241_242delinsGA |
p.Thr81Asp |
Missense |
3/28 |
- |
1 |
7-55211001-AT-GC |
c.244_245delinsGC |
p.Ile82Ala |
Missense |
3/28 |
- |
1 |
7-55211008-A-T |
c.251A>T |
p.Glu84Val |
Missense |
3/28 |
- |
1 |
7-55211008-A-C |
c.251A>C |
p.Glu84Ala |
Missense |
3/28 |
- |
1 |
7-55211013-GC-TT |
c.256_257delinsTT |
p.Ala86Phe |
Missense |
3/28 |
- |
1 |
7-55211014-C-A |
c.257C>A |
p.Ala86Asp |
Missense |
3/28 |
- |
2 |
7-55211014-CT-AG |
c.257_258inv |
p.Ala86Glu |
Missense |
3/28 |
- |
1 |
7-55211015-T-C |
c.258T>C |
p.Ala86Ala |
Synonymous |
3/28 |
- |
1 |
7-55211015-T-A |
c.258T>A |
p.Ala86Ala |
Synonymous |
3/28 |
- |
1 |
7-55211015-T-G |
c.258T>G |
p.Ala86Ala |
Synonymous |
3/28 |
- |
1 |
7-55211019-TA-GC |
c.262_263delinsGC |
p.Tyr88Ala |
Missense |
3/28 |
- |
1 |
7-55211022-GTC-ATG |
c.265_267delinsATG |
p.Val89Met |
Missense |
3/28 |
- |
2 |
7-55211022-G-C |
c.265G>C |
p.Val89Leu |
Missense |
3/28 |
- |
2 |
7-55211025-C-T |
c.268C>T |
p.Leu90Phe |
Missense |
3/28 |
- |
1 |
7-55211031-GC-TT |
c.274_275delinsTT |
p.Ala92Phe |
Missense |
3/28 |
- |
1 |
7-55211031-GC-TG |
c.274_275delinsTG |
p.Ala92Cys |
Missense |
3/28 |
- |
1 |
7-55211032-CC-AG |
c.275_276delinsAG |
p.Ala92Glu |
Missense |
3/28 |
- |
1 |
7-55211032-C-A |
c.275C>A |
p.Ala92Asp |
Missense |
3/28 |
- |
2 |
7-55211033-C-G |
c.276C>G |
p.Ala92Ala |
Synonymous |
3/28 |
- |
1 |
7-55211033-C-A |
c.276C>A |
p.Ala92Ala |
Synonymous |
3/28 |
- |
1 |
7-55211033-C-T |
c.276C>T |
p.Ala92Ala |
Synonymous |
3/28 |
- |
1 |
7-55211034-C-A |
c.277C>A |
p.Leu93Ile |
Missense |
3/28 |
- |
1 |
7-55211040-A-C |
c.283A>C |
p.Thr95Pro |
Missense |
3/28 |
- |
1 |
7-55211041-CA-TG |
c.284_285inv |
p.Thr95Met |
Missense |
3/28 |
- |
1 |
7-55211043-G-A |
c.286G>A |
p.Val96Met |
Missense |
3/28 |
- |
1 |
7-55211043-GT-AC |
c.286_287inv |
p.Val96Thr |
Missense |
3/28 |
- |
1 |
7-55211046-G-C |
c.289G>C |
p.Glu97Gln |
Missense |
3/28 |
- |
1 |
7-55211047-A-C |
c.290A>C |
p.Glu97Ala |
Missense |
3/28 |
- |
1 |
7-55211049-C-T |
c.292C>T |
p.Arg98* |
Nonsense |
3/28 |
- |
1 |
7-55211050-G-A |
c.293G>A |
p.Arg98Gln |
Missense |
3/28 |
- |
3 |
7-55211055-CCT-AAG |
c.298_300delinsAAG |
p.Pro100Lys |
Missense |
3/28 |
- |
1 |
7-55211055-C-A |
c.298C>A |
p.Pro100Thr |
Missense |
3/28 |
- |
1 |
7-55211055-C-G |
c.298C>G |
p.Pro100Ala |
Missense |
3/28 |
- |
3 |
7-55211057-T-G |
c.300T>G |
p.Pro100Pro |
Synonymous |
3/28 |
- |
1 |
7-55211064-AA-GC |
c.307_308delinsGC |
p.Asn103Ala |
Missense |
3/28 |
- |
1 |
7-55211068-T-A |
c.311T>A |
p.Leu104Gln |
Missense |
3/28 |
- |
1 |
7-55211068-T-G |
c.311T>G |
p.Leu104Arg |
Missense |
3/28 |
- |
1 |
7-55211070-CAG-TGT |
c.313_315delinsTGT |
p.Gln105Cys |
Missense |
3/28 |
- |
1 |
7-55211070-CAG-GAC |
c.313_315delinsGAC |
p.Gln105Asp |
Missense |
3/28 |
- |
1 |
7-55211070-C-A |
c.313C>A |
p.Gln105Lys |
Missense |
3/28 |
- |
2 |
7-55211076-A-G |
c.319A>G |
p.Ile107Val |
Missense |
3/28 |
- |
1 |
7-55211076-A-T |
c.319A>T |
p.Ile107Phe |
Missense |
3/28 |
- |
1 |
7-55211079-A-G |
c.322A>G |
p.Arg108Gly |
Missense |
3/28 |
- |
2 |
7-55211079-AGA-CAT |
c.322_324delinsCAT |
p.Arg108His |
Missense |
3/28 |
- |
1 |
7-55211080-G-A |
c.323G>A |
p.Arg108Lys |
Missense |
3/28 |
- |
43 |
7-55211083-G-A |
c.326G>A |
p.Gly109Glu |
Missense |
3/28 |
- |
1 |
7-55211091-TAC-GAG |
c.334_336delinsGAG |
p.Tyr112Glu |
Missense |
3/28 |
- |
1 |
7-55211092-A-T |
c.335A>T |
p.Tyr112Phe |
Missense |
3/28 |
- |
1 |
7-55211095-A-T |
c.338A>T |
p.Tyr113Phe |
Missense |
3/28 |
- |
1 |
7-55211095-TACGAAAATTCCTATGCCTTAGCAGTCTTATCTAACTATGATGCAAATAAAACCGGACTG-T |
c.339_397del |
p.Tyr113* |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/28 |
- |
1 |
7-55211096-C-T |
c.339C>T |
p.Tyr113Tyr |
Synonymous |
3/28 |
- |
1 |
7-55211097-G-A |
c.340G>A |
p.Glu114Lys |
Missense |
3/28 |
- |
4 |
7-55211101-A-T |
c.344A>T |
p.Asn115Ile |
Missense |
3/28 |
- |
1 |
7-55211101-A-C |
c.344A>C |
p.Asn115Thr |
Missense |
3/28 |
- |
1 |
7-55211103-T-G |
c.346T>G |
p.Ser116Ala |
Missense |
3/28 |
- |
1 |
7-55211103-TC-GA |
c.346_347inv |
p.Ser116Asp |
Missense |
3/28 |
- |
1 |
7-55211107-A-T |
c.350A>T |
p.Tyr117Phe |
Missense |
3/28 |
- |
1 |
7-55211107-A-G |
c.350A>G |
p.Tyr117Cys |
Missense |
3/28 |
- |
1 |
7-55211110-C-G |
c.353C>G |
p.Ala118Gly |
Missense |
3/28 |
- |
2 |
7-55211112-TTA-ATG |
c.355_357delinsATG |
p.Leu119Met |
Missense |
3/28 |
- |
1 |
7-55211113-T-C |
c.356T>C |
p.Leu119Ser |
Missense |
3/28 |
- |
1 |
7-55211115-G-C |
c.358G>C |
p.Ala120Pro |
Missense |
3/28 |
- |
1 |
7-55211116-C-A |
c.359C>A |
p.Ala120Glu |
Missense |
3/28 |
- |
1 |
7-55211124-T-G |
c.367T>G |
p.Ser123Ala |
Missense |
3/28 |
- |
3 |
7-55211129-C-G |
c.372C>G |
p.Asn124Lys |
Missense |
3/28 |
- |
2 |
7-55211129-C-A |
c.372C>A |
p.Asn124Lys |
Missense |
3/28 |
- |
2 |
7-55211136-G-A |
c.379G>A |
p.Ala127Thr |
Missense |
3/28 |
- |
1 |
7-55211139-A-G |
c.382A>G |
p.Asn128Asp |
Missense |
3/28 |
- |
1 |
7-55211143-AA-TG |
c.386_387delinsTG |
p.Lys129Met |
Missense |
3/28 |
- |
1 |
7-55211143-A-G |
c.386A>G |
p.Lys129Arg |
Missense |
3/28 |
- |
1 |
7-55211148-G-A |
c.391G>A |
p.Gly131Arg |
Missense |
3/28 |
- |
1 |
7-55211151-CT-GC |
c.394_395delinsGC |
p.Leu132Ala |
Missense |
3/28 |
- |
1 |
7-55211154-AA-GC |
c.397_398delinsGC |
p.Lys133Ala |
Missense |
3/28 |
- |
5 |
7-55211160-CTG-TAT |
c.403_405delinsTAT |
p.Leu135Tyr |
Missense |
3/28 |
- |
1 |
7-55211163-C-A |
c.406C>A |
p.Pro136Thr |
Missense |
3/28 |
- |
1 |
7-55211164-C-T |
c.407C>T |
p.Pro136Leu |
Missense |
3/28 |
- |
1 |
7-55211167-T-G |
c.410T>G |
p.Met137Arg |
Missense |
3/28 |
- |
1 |
7-55211168-G-C |
c.411G>C |
p.Met137Ile |
Missense |
3/28 |
- |
2 |
7-55211168-G-A |
c.411G>A |
p.Met137Ile |
Missense |
3/28 |
- |
2 |
7-55211168-G-T |
c.411G>T |
p.Met137Ile |
Missense |
3/28 |
- |
2 |
7-55211169-A-T |
c.412A>T |
p.Arg138* |
Nonsense |
3/28 |
- |
1 |
7-55211178-CA-AC |
c.421_422delinsAC |
p.Gln141Thr |
Missense |
3/28 |
- |
1 |
7-55211178-C-T |
c.421C>T |
p.Gln141* |
Nonsense |
3/28 |
- |
1 |
7-55211181-G-T |
c.424G>T |
p.Glu142* |
Nonsense |
3/28 |
- |
1 |
7-55211316-G-A |
c.424+135G>A |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55211879-A-G |
c.424+698A>G |
- |
IntronicSNV |
- |
3/27 |
1 |
7-55214308-A-G |
c.434A>G |
p.His145Arg |
Missense |
4/28 |
- |
1 |
7-55214311-G-T |
c.437G>T |
p.Gly146Val |
Missense |
4/28 |
- |
1 |
7-55214313-G-C |
c.439G>C |
p.Ala147Pro |
Missense |
4/28 |
- |
1 |
7-55214314-C-A |
c.440C>A |
p.Ala147Asp |
Missense |
4/28 |
- |
1 |
7-55214319-C-T |
c.445C>T |
p.Arg149Trp |
Missense |
4/28 |
- |
1 |
7-55214325-AG-GC |
c.451_452delinsGC |
p.Ser151Ala |
Missense |
4/28 |
- |
3 |
7-55214325-AG-GA |
c.451_452delinsGA |
p.Ser151Asp |
Missense |
4/28 |
- |
1 |
7-55214344-G-A |
c.470G>A |
p.Cys157Tyr |
Missense |
4/28 |
- |
1 |
7-55214346-A-G |
c.472A>G |
p.Asn158Asp |
Missense |
4/28 |
- |
1 |
7-55214346-AA-GG |
c.472_473delinsGG |
p.Asn158Gly |
Missense |
4/28 |
- |
1 |
7-55214347-A-G |
c.473A>G |
p.Asn158Ser |
Missense |
4/28 |
- |
1 |
7-55214348-C-T |
c.474C>T |
p.Asn158Asn |
Synonymous |
4/28 |
- |
18 |
7-55214350-T-A |
c.476T>A |
p.Val159Glu |
Missense |
4/28 |
- |
1 |
7-55214352-G-T |
c.478G>T |
p.Glu160* |
Nonsense |
4/28 |
- |
1 |
7-55214354-G-A |
c.480G>A |
p.Glu160Glu |
Synonymous |
4/28 |
- |
1 |
7-55214358-A-T |
c.484A>T |
p.Ile162Phe |
Missense |
4/28 |
- |
1 |
7-55214360-C-G |
c.486C>G |
p.Ile162Met |
Missense |
4/28 |
- |
1 |
7-55214361-CAG-GAC |
c.487_489delinsGAC |
p.Gln163Asp |
Missense |
4/28 |
- |
1 |
7-55214362-A-T |
c.488A>T |
p.Gln163Leu |
Missense |
4/28 |
- |
1 |
7-55214367-CG-AA |
c.493_494delinsAA |
p.Arg165Lys |
Missense |
4/28 |
- |
1 |
7-55214367-C-T |
c.493C>T |
p.Arg165Trp |
Missense |
4/28 |
- |
1 |
7-55214368-G-A |
c.494G>A |
p.Arg165Gln |
Missense |
4/28 |
- |
1 |
7-55214379-AGC-GAG |
c.505_507delinsGAG |
p.Ser169Glu |
Missense |
4/28 |
- |
1 |
7-55214379-AG-GC |
c.505_506delinsGC |
p.Ser169Ala |
Missense |
4/28 |
- |
1 |
7-55214385-GA-AG |
c.511_512delinsAG |
p.Asp171Ser |
Missense |
4/28 |
- |
1 |
7-55214387-C-T |
c.513C>T |
p.Asp171Asp |
Synonymous |
4/28 |
- |
1 |
7-55214397-AAC-CAA |
c.523_525delinsCAA |
p.Asn175Gln |
Missense |
4/28 |
- |
1 |
7-55214399-C-A |
c.525C>A |
p.Asn175Lys |
Missense |
4/28 |
- |
1 |
7-55214399-C-G |
c.525C>G |
p.Asn175Lys |
Missense |
4/28 |
- |
1 |
7-55214403-T-G |
c.529T>G |
p.Ser177Ala |
Missense |
4/28 |
- |
1 |
7-55214404-C-A |
c.530C>A |
p.Ser177* |
Nonsense |
4/28 |
- |
1 |
7-55214405-G-A |
c.531G>A |
p.Ser177Ser |
Synonymous |
4/28 |
- |
1 |
7-55214405-G-C |
c.531G>C |
p.Ser177Ser |
Synonymous |
4/28 |
- |
1 |
7-55214410-A-G |
c.536A>G |
p.Asp179Gly |
Missense |
4/28 |
- |
1 |
7-55214415-CA-AC |
c.541_542delinsAC |
p.Gln181Thr |
Missense |
4/28 |
- |
1 |
7-55214415-C-A |
c.541C>A |
p.Gln181Lys |
Missense |
4/28 |
- |
1 |
7-55214417-G-C |
c.543G>C |
p.Gln181His |
Missense |
4/28 |
- |
1 |
7-55214417-G-T |
c.543G>T |
p.Gln181His |
Missense |
4/28 |
- |
1 |
7-55214418-AAC-CAA |
c.544_546delinsCAA |
p.Asn182Gln |
Missense |
4/28 |
- |
3 |
7-55214443-G-A |
c.559+10G>A |
- |
IntronicSNV |
- |
4/27 |
4 |
7-55214647-G-T |
c.559+214G>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55215018-A-C |
c.559+585A>C |
- |
IntronicSNV |
- |
4/27 |
9 |
7-55215661-C-T |
c.559+1228C>T |
- |
IntronicSNV |
- |
4/27 |
1 |
7-55218903-T-C |
c.560-84T>C |
- |
IntronicSNV |
- |
4/27 |
3 |
7-55218994-G-C |
c.567G>C |
p.Lys189Asn |
Missense |
5/28 |
- |
1 |
7-55218994-G-T |
c.567G>T |
p.Lys189Asn |
Missense |
5/28 |
- |
1 |
7-55219001-C-T |
c.574C>T |
p.Pro192Ser |
Missense |
5/28 |
- |
1 |
7-55219008-G-C |
c.581G>C |
p.Cys194Ser |
Missense |
5/28 |
- |
2 |
7-55219007-T-A |
c.580T>A |
p.Cys194Ser |
Missense |
5/28 |
- |
2 |
7-55219007-TG-GC |
c.580_581delinsGC |
p.Cys194Ala |
Missense |
5/28 |
- |
1 |
7-55219013-A-G |
c.586A>G |
p.Asn196Asp |
Missense |
5/28 |
- |
1 |
7-55219019-AGC-GAG |
c.592_594delinsGAG |
p.Ser198Glu |
Missense |
5/28 |
- |
1 |
7-55219022-TG-GT |
c.595_596delinsGT |
p.Cys199Val |
Missense |
5/28 |
- |
1 |
7-55219023-G-C |
c.596G>C |
p.Cys199Ser |
Missense |
5/28 |
- |
2 |
7-55219022-T-A |
c.595T>A |
p.Cys199Ser |
Missense |
5/28 |
- |
2 |
7-55219034-GGA-TGT |
c.607_609delinsTGT |
p.Gly203Cys |
Missense |
5/28 |
- |
1 |
7-55219034-G-C |
c.607G>C |
p.Gly203Arg |
Missense |
5/28 |
- |
6 |
7-55219034-G-A |
c.607G>A |
p.Gly203Arg |
Missense |
5/28 |
- |
6 |
7-55219035-G-C |
c.608G>C |
p.Gly203Ala |
Missense |
5/28 |
- |
1 |
7-55219159-C-T |
c.628+104C>T |
- |
IntronicSNV |
- |
5/27 |
4 |
7-55219159-C-G |
c.628+104C>G |
- |
IntronicSNV |
- |
5/27 |
4 |
7-55219290-T-A |
c.628+235T>A |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219290-T-C |
c.628+235T>C |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219307-C-G |
c.628+252C>G |
- |
IntronicSNV |
- |
5/27 |
1 |
7-55219611-A-G |
c.628+556A>G |
- |
IntronicSNV |
- |
5/27 |
3 |
7-55220177-A-G |
c.629-62A>G |
- |
IntronicSNV |
- |
5/27 |
6 |
7-55220239-T-A |
c.629T>A |
p.Leu210Gln |
Missense |
6/28 |
- |
1 |
7-55220254-G-C |
c.644G>C |
p.Cys215Ser |
Missense |
6/28 |
- |
2 |
7-55220253-TG-GC |
c.643_644delinsGC |
p.Cys215Ala |
Missense |
6/28 |
- |
1 |
7-55220253-T-A |
c.643T>A |
p.Cys215Ser |
Missense |
6/28 |
- |
2 |
7-55220253-T-G |
c.643T>G |
p.Cys215Gly |
Missense |
6/28 |
- |
1 |
7-55220265-T-C |
c.655T>C |
p.Cys219Arg |
Missense |
6/28 |
- |
1 |
7-55220268-TCC-GAG |
c.658_660delinsGAG |
p.Ser220Glu |
Missense |
6/28 |
- |
2 |
7-55220274-CGC-TGA |
c.664_666delinsTGA |
p.Arg222* |
Nonsense |
6/28 |
- |
1 |
7-55220274-C-T |
c.664C>T |
p.Arg222Cys |
Missense |
6/28 |
- |
8 |
7-55220274-CG-GC |
c.664_665delinsGC |
p.Arg222Ala |
Missense |
6/28 |
- |
1 |
7-55220277-T-C |
c.667T>C |
p.Cys223Arg |
Missense |
6/28 |
- |
2 |
7-55220277-TGC-GAG |
c.667_669delinsGAG |
p.Cys223Glu |
Missense |
6/28 |
- |
1 |
7-55220281-GT-AA |
c.671_672delinsAA |
p.Arg224Gln |
Missense |
6/28 |
- |
1 |
7-55220284-G-A |
c.674G>A |
p.Gly225Asp |
Missense |
6/28 |
- |
1 |
7-55220290-C-A |
c.680C>A |
p.Ser227Tyr |
Missense |
6/28 |
- |
1 |
7-55220292-CCC-GAG |
c.682_684delinsGAG |
p.Pro228Glu |
Missense |
6/28 |
- |
1 |
7-55220292-C-T |
c.682C>T |
p.Pro228Ser |
Missense |
6/28 |
- |
2 |
7-55220293-C-G |
c.683C>G |
p.Pro228Arg |
Missense |
6/28 |
- |
1 |
7-55220295-AGT-GAG |
c.685_687delinsGAG |
p.Ser229Glu |
Missense |
6/28 |
- |
1 |
7-55220295-AG-GA |
c.685_686delinsGA |
p.Ser229Asp |
Missense |
6/28 |
- |
2 |
7-55220295-AG-GC |
c.685_686delinsGC |
p.Ser229Ala |
Missense |
6/28 |
- |
2 |
7-55220295-A-T |
c.685A>T |
p.Ser229Cys |
Missense |
6/28 |
- |
2 |
7-55220295-AG-CC |
c.685_686delinsCC |
p.Ser229Pro |
Missense |
6/28 |
- |
1 |
7-55220313-CAG-GAC |
c.703_705delinsGAC |
p.Gln235Asp |
Missense |
6/28 |
- |
1 |
7-55220316-T-C |
c.706T>C |
p.Cys236Arg |
Missense |
6/28 |
- |
1 |
7-55220325-GG-AC |
c.715_716delinsAC |
p.Gly239Thr |
Missense |
6/28 |
- |
1 |
7-55220328-T-C |
c.718T>C |
p.Cys240Arg |
Missense |
6/28 |
- |
1 |
7-55220332-C-A |
c.722C>A |
p.Thr241Lys |
Missense |
6/28 |
- |
1 |
7-55220332-CA-TG |
c.722_723inv |
p.Thr241Met |
Missense |
6/28 |
- |
3 |
7-55220335-G-T |
c.725G>T |
p.Gly242Val |
Missense |
6/28 |
- |
1 |
7-55220338-C-G |
c.728C>G |
p.Pro243Arg |
Missense |
6/28 |
- |
1 |
7-55220340-CG-TA |
c.730_731delinsTA |
p.Arg244* |
Nonsense |
6/28 |
- |
1 |
7-55220343-G-T |
c.733G>T |
p.Glu245* |
Nonsense |
6/28 |
- |
2 |
7-55220346-AG-TT |
c.736_737delinsTT |
p.Ser246Phe |
Missense |
6/28 |
- |
1 |
7-55220349-G-T |
c.739G>T |
p.Asp247Tyr |
Missense |
6/28 |
- |
1 |
7-55220905-C-T |
c.747+548C>T |
- |
IntronicSNV |
- |
6/27 |
3 |
7-55221167-A-G |
c.748-537A>G |
- |
IntronicSNV |
- |
6/27 |
1 |
7-55221447-C-G |
c.748-257C>G |
- |
IntronicSNV |
- |
6/27 |
2 |
7-55221655-G-A |
c.748-49G>A |
- |
IntronicSNV |
- |
6/27 |
7 |
7-55221710-C-T |
c.754C>T |
p.Arg252Cys |
Missense |
7/28 |
- |
1 |
7-55221710-CG-GA |
c.754_755delinsGA |
p.Arg252Asp |
Missense |
7/28 |
- |
1 |
7-55221711-G-C |
c.755G>C |
p.Arg252Pro |
Missense |
7/28 |
- |
1 |
7-55221713-AA-GC |
c.757_758delinsGC |
p.Lys253Ala |
Missense |
7/28 |
- |
1 |
7-55221714-A-G |
c.758A>G |
p.Lys253Arg |
Missense |
7/28 |
- |
1 |
7-55221715-A-C |
c.759A>C |
p.Lys253Asn |
Missense |
7/28 |
- |
1 |
7-55221715-A-T |
c.759A>T |
p.Lys253Asn |
Missense |
7/28 |
- |
1 |
7-55221716-T-A |
c.760T>A |
p.Phe254Ile |
Missense |
7/28 |
- |
3 |
7-55221720-G-A |
c.764G>A |
p.Arg255Gln |
Missense |
7/28 |
- |
1 |
7-55221728-G-C |
c.772G>C |
p.Ala258Pro |
Missense |
7/28 |
- |
1 |
7-55221732-C-T |
c.776C>T |
p.Thr259Met |
Missense |
7/28 |
- |
1 |
7-55221735-G-A |
c.779G>A |
p.Cys260Tyr |
Missense |
7/28 |
- |
2 |
7-55221741-A-C |
c.785A>C |
p.Asp262Ala |
Missense |
7/28 |
- |
2 |
7-55221743-A-C |
c.787A>C |
p.Thr263Pro |
Missense |
7/28 |
- |
22 |
7-55221749-C-G |
c.793C>G |
p.Pro265Ala |
Missense |
7/28 |
- |
1 |
7-55221753-C-G |
c.797C>G |
p.Pro266Arg |
Missense |
7/28 |
- |
1 |
7-55221759-T-C |
c.803T>C |
p.Met268Thr |
Missense |
7/28 |
- |
1 |
7-55221761-CTC-ATG |
c.805_807delinsATG |
p.Leu269Met |
Missense |
7/28 |
- |
1 |
7-55221765-A-G |
c.809A>G |
p.Tyr270Cys |
Missense |
7/28 |
- |
2 |
7-55221772-C-A |
c.816C>A |
p.Pro272Pro |
Synonymous |
7/28 |
- |
1 |
7-55221777-CG-TC |
c.821_822delinsTC |
p.Thr274Ile |
Missense |
7/28 |
- |
2 |
7-55221778-G-A |
c.822G>A |
p.Thr274Thr |
Synonymous |
7/28 |
- |
1 |
7-55221780-A-T |
c.824A>T |
p.Tyr275Phe |
Missense |
7/28 |
- |
1 |
7-55221783-A-G |
c.827A>G |
p.Gln276Arg |
Missense |
7/28 |
- |
1 |
7-55221785-AT-GA |
c.829_830delinsGA |
p.Met277Glu |
Missense |
7/28 |
- |
2 |
7-55221788-G-A |
c.832G>A |
p.Asp278Asn |
Missense |
7/28 |
- |
1 |
7-55221793-GA-CG |
c.837_838delinsCG |
p.Asn280Asp |
Missense |
7/28 |
- |
1 |
7-55221794-A-G |
c.838A>G |
p.Asn280Asp |
Missense |
7/28 |
- |
1 |
7-55221797-C-G |
c.841C>G |
p.Pro281Ala |
Missense |
7/28 |
- |
1 |
7-55221797-C-A |
c.841C>A |
p.Pro281Thr |
Missense |
7/28 |
- |
1 |
7-55221800-G-A |
c.844G>A |
p.Glu282Lys |
Missense |
7/28 |
- |
3 |
7-55221802-G-T |
c.846G>T |
p.Glu282Asp |
Missense |
7/28 |
- |
1 |
7-55221803-G-A |
c.847G>A |
p.Gly283Ser |
Missense |
7/28 |
- |
1 |
7-55221810-A-G |
c.854A>G |
p.Tyr285Cys |
Missense |
7/28 |
- |
2 |
7-55221810-A-T |
c.854A>T |
p.Tyr285Phe |
Missense |
7/28 |
- |
1 |
7-55221814-C-G |
c.858C>G |
p.Ser286Arg |
Missense |
7/28 |
- |
1 |
7-55221814-C-A |
c.858C>A |
p.Ser286Arg |
Missense |
7/28 |
- |
1 |
7-55221812-A-C |
c.856A>C |
p.Ser286Arg |
Missense |
7/28 |
- |
1 |
7-55221818-G-A |
c.862G>A |
p.Gly288Ser |
Missense |
7/28 |
- |
1 |
7-55221819-G-T |
c.863G>T |
p.Gly288Val |
Missense |
7/28 |
- |
1 |
7-55221821-G-A |
c.865G>A |
p.Ala289Thr |
Missense |
7/28 |
- |
9 |
7-55221821-GCC-TAA |
c.865_867delinsTAA |
p.Ala289* |
Nonsense |
7/28 |
- |
2 |
7-55221821-G-C |
c.865G>C |
p.Ala289Pro |
Missense |
7/28 |
- |
1 |
7-55221821-GC-AT |
c.865_866delinsAT |
p.Ala289Ile |
Missense |
7/28 |
- |
1 |
7-55221821-GC-AA |
c.865_866delinsAA |
p.Ala289Asn |
Missense |
7/28 |
- |
1 |
7-55221822-C-T |
c.866C>T |
p.Ala289Val |
Missense |
7/28 |
- |
60 |
7-55221822-C-A |
c.866C>A |
p.Ala289Asp |
Missense |
7/28 |
- |
15 |
7-55221823-C-G |
c.867C>G |
p.Ala289Ala |
Synonymous |
7/28 |
- |
1 |
7-55221823-C-A |
c.867C>A |
p.Ala289Ala |
Synonymous |
7/28 |
- |
1 |
7-55221823-C-T |
c.867C>T |
p.Ala289Ala |
Synonymous |
7/28 |
- |
1 |
7-55221825-CC-TG |
c.869_870delinsTG |
p.Thr290Met |
Missense |
7/28 |
- |
1 |
7-55221830-G-A |
c.874G>A |
p.Val292Met |
Missense |
7/28 |
- |
1 |
7-55221830-G-C |
c.874G>C |
p.Val292Leu |
Missense |
7/28 |
- |
2 |
7-55221830-G-T |
c.874G>T |
p.Val292Leu |
Missense |
7/28 |
- |
2 |
7-55221832-G-A |
c.876G>A |
p.Val292Val |
Synonymous |
7/28 |
- |
1 |
7-55221834-A-C |
c.878A>C |
p.Lys293Thr |
Missense |
7/28 |
- |
1 |
7-55221836-A-G |
c.880A>G |
p.Lys294Glu |
Missense |
7/28 |
- |
1 |
7-55221837-A-G |
c.881A>G |
p.Lys294Arg |
Missense |
7/28 |
- |
1 |
7-55221840-G-A |
c.884G>A |
p.Cys295Tyr |
Missense |
7/28 |
- |
1 |
7-55221842-C-T |
c.886C>T |
p.Pro296Ser |
Missense |
7/28 |
- |
1 |
7-55223176-G-A |
c.890-347G>A |
- |
IntronicSNV |
- |
7/27 |
2 |
7-55223525-AA-GC |
c.892_893delinsGC |
p.Asn298Ala |
Missense |
8/28 |
- |
2 |
7-55223534-GGTG-G |
c.901_903del |
p.Val301del |
InFrameDeletion |
8/28 |
- |
1 |
7-55223537-ACA-CAT |
c.904_906delinsCAT |
p.Thr302His |
Missense |
8/28 |
- |
1 |
7-55223537-ACA-TGT |
c.904_906inv |
p.Thr302Cys |
Missense |
8/28 |
- |
1 |
7-55223554-C-T |
c.921C>T |
p.Cys307Cys |
Synonymous |
8/28 |
- |
1 |
7-55223555-GT-AG |
c.922_923delinsAG |
p.Val308Ser |
Missense |
8/28 |
- |
1 |
7-55223558-CG-GC |
c.925_926delinsGC |
p.Arg309Ala |
Missense |
8/28 |
- |
2 |
7-55223558-C-T |
c.925C>T |
p.Arg309* |
Nonsense |
8/28 |
- |
1 |
7-55223573-G-A |
c.940G>A |
p.Asp314Asn |
Missense |
8/28 |
- |
1 |
7-55223574-A-C |
c.941A>C |
p.Asp314Ala |
Missense |
8/28 |
- |
3 |
7-55223577-G-C |
c.944G>C |
p.Ser315Thr |
Missense |
8/28 |
- |
1 |
7-55223580-A-T |
c.947A>T |
p.Tyr316Phe |
Missense |
8/28 |
- |
1 |
7-55223582-G-A |
c.949G>A |
p.Glu317Lys |
Missense |
8/28 |
- |
1 |
7-55223582-G-T |
c.949G>T |
p.Glu317* |
Nonsense |
8/28 |
- |
1 |
7-55223583-A-C |
c.950A>C |
p.Glu317Ala |
Missense |
8/28 |
- |
2 |
7-55223587-G-A |
c.954G>A |
p.Met318Ile |
Missense |
8/28 |
- |
1 |
7-55223587-G-T |
c.954G>T |
p.Met318Ile |
Missense |
8/28 |
- |
1 |
7-55223587-G-C |
c.954G>C |
p.Met318Ile |
Missense |
8/28 |
- |
1 |
7-55223589-A-G |
c.956A>G |
p.Glu319Gly |
Missense |
8/28 |
- |
1 |
7-55223591-G-C |
c.958G>C |
p.Glu320Gln |
Missense |
8/28 |
- |
1 |
7-55223592-A-C |
c.959A>C |
p.Glu320Ala |
Missense |
8/28 |
- |
1 |
7-55223594-G-A |
c.961G>A |
p.Asp321Asn |
Missense |
8/28 |
- |
1 |
7-55223597-G-A |
c.964G>A |
p.Gly322Ser |
Missense |
8/28 |
- |
3 |
7-55223597-G-T |
c.964G>T |
p.Gly322Cys |
Missense |
8/28 |
- |
1 |
7-55223600-GT-CA |
c.967_968delinsCA |
p.Val323His |
Missense |
8/28 |
- |
1 |
7-55223600-GT-AC |
c.967_968inv |
p.Val323Thr |
Missense |
8/28 |
- |
1 |
7-55223600-GT-AG |
c.967_968delinsAG |
p.Val323Ser |
Missense |
8/28 |
- |
1 |
7-55223600-G-C |
c.967G>C |
p.Val323Leu |
Missense |
8/28 |
- |
1 |
7-55223600-GT-TG |
c.967_968delinsTG |
p.Val323Cys |
Missense |
8/28 |
- |
1 |
7-55223601-TC-AG |
c.968_969delinsAG |
p.Val323Glu |
Missense |
8/28 |
- |
1 |
7-55223601-T-G |
c.968T>G |
p.Val323Gly |
Missense |
8/28 |
- |
1 |
7-55223601-T-C |
c.968T>C |
p.Val323Ala |
Missense |
8/28 |
- |
1 |
7-55223601-T-A |
c.968T>A |
p.Val323Asp |
Missense |
8/28 |
- |
1 |
7-55223604-G-T |
c.971G>T |
p.Arg324Leu |
Missense |
8/28 |
- |
9 |
7-55223609-T-C |
c.976T>C |
p.Cys326Arg |
Missense |
8/28 |
- |
2 |
7-55223610-G-C |
c.977G>C |
p.Cys326Ser |
Missense |
8/28 |
- |
2 |
7-55223609-T-G |
c.976T>G |
p.Cys326Gly |
Missense |
8/28 |
- |
1 |
7-55223609-T-A |
c.976T>A |
p.Cys326Ser |
Missense |
8/28 |
- |
2 |
7-55223610-G-T |
c.977G>T |
p.Cys326Phe |
Missense |
8/28 |
- |
2 |
7-55223610-G-A |
c.977G>A |
p.Cys326Tyr |
Missense |
8/28 |
- |
1 |
7-55223612-A-G |
c.979A>G |
p.Lys327Glu |
Missense |
8/28 |
- |
1 |
7-55223618-T-C |
c.985T>C |
p.Cys329Arg |
Missense |
8/28 |
- |
1 |
7-55223621-G-A |
c.988G>A |
p.Glu330Lys |
Missense |
8/28 |
- |
5 |
7-55223624-GGG-AGC |
c.991_993delinsAGC |
p.Gly331Ser |
Missense |
8/28 |
- |
1 |
7-55223627-C-T |
c.994C>T |
p.Pro332Ser |
Missense |
8/28 |
- |
1 |
7-55223630-T-TT |
c.997dup |
p.Cys333Leufs*6 |
Frameshift |
8/28 |
- |
1 |
7-55223633-C-T |
c.1000C>T |
p.Arg334Cys |
Missense |
8/28 |
- |
1 |
7-55223633-CGC-TGG |
c.1000_1002delinsTGG |
p.Arg334Trp |
Missense |
8/28 |
- |
1 |
7-55224229-G-C |
c.1010G>C |
p.Cys337Ser |
Missense |
9/28 |
- |
1 |
7-55224228-T-A |
c.1009T>A |
p.Cys337Ser |
Missense |
9/28 |
- |
1 |
7-55224229-G-T |
c.1010G>T |
p.Cys337Phe |
Missense |
9/28 |
- |
1 |
7-55224237-A-G |
c.1018A>G |
p.Ile340Val |
Missense |
9/28 |
- |
1 |
7-55224250-A-G |
c.1031A>G |
p.Glu344Gly |
Missense |
9/28 |
- |
1 |
7-55224252-T-C |
c.1033T>C |
p.Phe345Leu |
Missense |
9/28 |
- |
2 |
7-55224254-T-A |
c.1035T>A |
p.Phe345Leu |
Missense |
9/28 |
- |
2 |
7-55224254-T-G |
c.1035T>G |
p.Phe345Leu |
Missense |
9/28 |
- |
2 |
7-55224262-CA-GT |
c.1043_1044delinsGT |
p.Ser348Cys |
Missense |
9/28 |
- |
1 |
7-55224288-AA-GC |
c.1069_1070delinsGC |
p.Lys357Ala |
Missense |
9/28 |
- |
1 |
7-55224291-CAC-ATG |
c.1072_1074delinsATG |
p.His358Met |
Missense |
9/28 |
- |
1 |
7-55224291-CA-GC |
c.1072_1073delinsGC |
p.His358Ala |
Missense |
9/28 |
- |
3 |
7-55224292-A-G |
c.1073A>G |
p.His358Arg |
Missense |
9/28 |
- |
3 |
7-55224294-TT-GC |
c.1075_1076delinsGC |
p.Phe359Ala |
Missense |
9/28 |
- |
3 |
7-55224294-T-G |
c.1075T>G |
p.Phe359Val |
Missense |
9/28 |
- |
13 |
7-55224295-T-G |
c.1076T>G |
p.Phe359Cys |
Missense |
9/28 |
- |
3 |
7-55224297-AAA-GAC |
c.1078_1080delinsGAC |
p.Lys360Asp |
Missense |
9/28 |
- |
1 |
7-55224297-A-G |
c.1078A>G |
p.Lys360Glu |
Missense |
9/28 |
- |
3 |
7-55224300-A-G |
c.1081A>G |
p.Asn361Asp |
Missense |
9/28 |
- |
1 |
7-55224306-A-G |
c.1087A>G |
p.Thr363Ala |
Missense |
9/28 |
- |
1 |
7-55224307-C-A |
c.1088C>A |
p.Thr363Asn |
Missense |
9/28 |
- |
1 |
7-55224307-C-T |
c.1088C>T |
p.Thr363Ile |
Missense |
9/28 |
- |
1 |
7-55224309-TC-CA |
c.1090_1091delinsCA |
p.Ser364His |
Missense |
9/28 |
- |
3 |
7-55224313-T-A |
c.1094T>A |
p.Ile365Asn |
Missense |
9/28 |
- |
1 |
7-55224321-GA-CG |
c.1102_1103delinsCG |
p.Asp368Arg |
Missense |
9/28 |
- |
1 |
7-55224321-G-A |
c.1102G>A |
p.Asp368Asn |
Missense |
9/28 |
- |
2 |
7-55224330-CATC-C |
c.1111_1113del |
p.Ile371del |
InFrameDeletion |
9/28 |
- |
1 |
7-55224333-C-A |
c.1114C>A |
p.Leu372Met |
Missense |
9/28 |
- |
1 |
7-55224336-C-T |
c.1117C>T |
p.Pro373Ser |
Missense |
9/28 |
- |
1 |
7-55224337-C-T |
c.1118C>T |
p.Pro373Leu |
Missense |
9/28 |
- |
1 |
7-55224338-G-A |
c.1119G>A |
p.Pro373Pro |
Synonymous |
9/28 |
- |
1 |
7-55224339-GTG-ATC |
c.1120_1122delinsATC |
p.Val374Ile |
Missense |
9/28 |
- |
2 |
7-55224342-GCA-ATG |
c.1123_1125delinsATG |
p.Ala375Met |
Missense |
9/28 |
- |
13 |
7-55224342-G-T |
c.1123G>T |
p.Ala375Ser |
Missense |
9/28 |
- |
1 |
7-55224342-GC-AG |
c.1123_1124delinsAG |
p.Ala375Arg |
Missense |
9/28 |
- |
5 |
7-55224342-G-C |
c.1123G>C |
p.Ala375Pro |
Missense |
9/28 |
- |
13 |
7-55224342-GC-TA |
c.1123_1124delinsTA |
p.Ala375* |
Nonsense |
9/28 |
- |
1 |
7-55224343-C-G |
c.1124C>G |
p.Ala375Gly |
Missense |
9/28 |
- |
1 |
7-55224345-TT-GC |
c.1126_1127delinsGC |
p.Phe376Ala |
Missense |
9/28 |
- |
1 |
7-55224348-AG-GC |
c.1129_1130delinsGC |
p.Arg377Ala |
Missense |
9/28 |
- |
1 |
7-55224350-G-C |
c.1131G>C |
p.Arg377Ser |
Missense |
9/28 |
- |
1 |
7-55224350-G-T |
c.1131G>T |
p.Arg377Ser |
Missense |
9/28 |
- |
1 |
7-55224352-G-C |
c.1133G>C |
p.Gly378Ala |
Missense |
9/28 |
- |
1 |
7-55224454-A-C |
c.1136A>C |
p.Asp379Ala |
Missense |
10/28 |
- |
1 |
7-55224456-T-G |
c.1138T>G |
p.Ser380Ala |
Missense |
10/28 |
- |
1 |
7-55224457-CC-AA |
c.1139_1140delinsAA |
p.Ser380* |
Nonsense |
10/28 |
- |
1 |
7-55224459-TT-GC |
c.1141_1142delinsGC |
p.Phe381Ala |
Missense |
10/28 |
- |
1 |
7-55224462-A-G |
c.1144A>G |
p.Thr382Ala |
Missense |
10/28 |
- |
2 |
7-55224465-CA-GC |
c.1147_1148delinsGC |
p.His383Ala |
Missense |
10/28 |
- |
1 |
7-55224468-A-G |
c.1150A>G |
p.Thr384Ala |
Missense |
10/28 |
- |
1 |
7-55224469-C-G |
c.1151C>G |
p.Thr384Ser |
Missense |
10/28 |
- |
1 |
7-55224468-A-T |
c.1150A>T |
p.Thr384Ser |
Missense |
10/28 |
- |
1 |
7-55224471-C-G |
c.1153C>G |
p.Pro385Ala |
Missense |
10/28 |
- |
1 |
7-55224472-C-G |
c.1154C>G |
p.Pro385Arg |
Missense |
10/28 |
- |
1 |
7-55224474-C-G |
c.1156C>G |
p.Pro386Ala |
Missense |
10/28 |
- |
1 |
7-55224477-C-A |
c.1159C>A |
p.Leu387Met |
Missense |
10/28 |
- |
5 |
7-55224477-CT-GC |
c.1159_1160delinsGC |
p.Leu387Ala |
Missense |
10/28 |
- |
1 |
7-55224477-CTG-AGGAGC |
c.1159_1161delinsAGGAGC |
p.Leu387delinsArgSer |
MultiAAMissense |
10/28 |
- |
1 |
7-55224477-CTG-TTT |
c.1159_1161delinsTTT |
p.Leu387Phe |
Missense |
10/28 |
- |
2 |
7-55224480-G-A |
c.1162G>A |
p.Asp388Asn |
Missense |
10/28 |
- |
2 |
7-55224481-A-C |
c.1163A>C |
p.Asp388Ala |
Missense |
10/28 |
- |
1 |
7-55224483-C-G |
c.1165C>G |
p.Pro389Ala |
Missense |
10/28 |
- |
1 |
7-55224486-CA-GC |
c.1168_1169delinsGC |
p.Gln390Ala |
Missense |
10/28 |
- |
1 |
7-55224490-A-C |
c.1172A>C |
p.Glu391Ala |
Missense |
10/28 |
- |
1 |
7-55224490-A-G |
c.1172A>G |
p.Glu391Gly |
Missense |
10/28 |
- |
1 |
7-55224492-CT-GC |
c.1174_1175delinsGC |
p.Leu392Ala |
Missense |
10/28 |
- |
1 |
7-55224496-A-C |
c.1178A>C |
p.Asp393Ala |
Missense |
10/28 |
- |
1 |
7-55224498-AT-GC |
c.1180_1181delinsGC |
p.Ile394Ala |
Missense |
10/28 |
- |
1 |
7-55224507-A-G |
c.1189A>G |
p.Thr397Ala |
Missense |
10/28 |
- |
1 |
7-55224511-T-A |
c.1193T>A |
p.Val398Glu |
Missense |
10/28 |
- |
1 |
7-55224522-A-G |
c.1204A>G |
p.Thr402Ala |
Missense |
10/28 |
- |
1 |
7-55225140-G-C |
c.1208-216G>C |
- |
IntronicSNV |
- |
10/27 |
2 |
7-55225170-G-C |
c.1208-186G>C |
- |
IntronicSNV |
- |
10/27 |
1 |
7-55225364-C-A |
c.1216C>A |
p.Leu406Met |
Missense |
11/28 |
- |
1 |
7-55225365-T-A |
c.1217T>A |
p.Leu406Gln |
Missense |
11/28 |
- |
1 |
7-55225371-A-G |
c.1223A>G |
p.Gln408Arg |
Missense |
11/28 |
- |
1 |
7-55225372-G-T |
c.1224G>T |
p.Gln408His |
Missense |
11/28 |
- |
1 |
7-55225372-G-C |
c.1224G>C |
p.Gln408His |
Missense |
11/28 |
- |
1 |
7-55225379-C-T |
c.1231C>T |
p.Pro411Ser |
Missense |
11/28 |
- |
1 |
7-55225392-CG-AC |
c.1244_1245delinsAC |
p.Thr415Asn |
Missense |
11/28 |
- |
1 |
7-55225394-G-A |
c.1246G>A |
p.Asp416Asn |
Missense |
11/28 |
- |
2 |
7-55225397-C-G |
c.1249C>G |
p.Leu417Val |
Missense |
11/28 |
- |
1 |
7-55225405-C-G |
c.1257C>G |
p.Ala419Ala |
Synonymous |
11/28 |
- |
1 |
7-55225406-T-A |
c.1258T>A |
p.Phe420Ile |
Missense |
11/28 |
- |
1 |
7-55225409-G-A |
c.1261G>A |
p.Glu421Lys |
Missense |
11/28 |
- |
2 |
7-55225412-A-G |
c.1264A>G |
p.Asn422Asp |
Missense |
11/28 |
- |
1 |
7-55225421-A-C |
c.1273A>C |
p.Ile425Leu |
Missense |
11/28 |
- |
1 |
7-55225427-CG-GC |
c.1279_1280delinsGC |
p.Arg427Ala |
Missense |
11/28 |
- |
2 |
7-55225427-C-T |
c.1279C>T |
p.Arg427Cys |
Missense |
11/28 |
- |
2 |
7-55225428-G-A |
c.1280G>A |
p.Arg427His |
Missense |
11/28 |
- |
1 |
7-55225428-GC-AA |
c.1280_1281delinsAA |
p.Arg427Gln |
Missense |
11/28 |
- |
1 |
7-55225431-G-A |
c.1283G>A |
p.Gly428Asp |
Missense |
11/28 |
- |
3 |
7-55225433-AG-GA |
c.1285_1286delinsGA |
p.Arg429Glu |
Missense |
11/28 |
- |
1 |
7-55225435-G-C |
c.1287G>C |
p.Arg429Ser |
Missense |
11/28 |
- |
1 |
7-55225435-G-T |
c.1287G>T |
p.Arg429Ser |
Missense |
11/28 |
- |
1 |
7-55225444-A-C |
c.1296A>C |
p.Gln432His |
Missense |
11/28 |
- |
2 |
7-55225444-A-T |
c.1296A>T |
p.Gln432His |
Missense |
11/28 |
- |
2 |
7-55225445-CA-GC |
c.1297_1298delinsGC |
p.His433Ala |
Missense |
11/28 |
- |
2 |
7-55225446-A-T |
c.1298A>T |
p.His433Leu |
Missense |
11/28 |
- |
1 |
7-55227843-C-T |
c.1310C>T |
p.Ser437Phe |
Missense |
12/28 |
- |
1 |
7-55227850-A-G |
c.1317A>G |
p.Ala439Ala |
Synonymous |
12/28 |
- |
2 |
7-55227850-A-T |
c.1317A>T |
p.Ala439Ala |
Synonymous |
12/28 |
- |
1 |
7-55227850-A-C |
c.1317A>C |
p.Ala439Ala |
Synonymous |
12/28 |
- |
1 |
7-55227854-G-C |
c.1321G>C |
p.Val441Leu |
Missense |
12/28 |
- |
1 |
7-55227854-G-A |
c.1321G>A |
p.Val441Ile |
Missense |
12/28 |
- |
1 |
7-55227854-G-T |
c.1321G>T |
p.Val441Phe |
Missense |
12/28 |
- |
1 |
7-55227855-T-G |
c.1322T>G |
p.Val441Gly |
Missense |
12/28 |
- |
2 |
7-55227855-T-A |
c.1322T>A |
p.Val441Asp |
Missense |
12/28 |
- |
3 |
7-55227857-AG-GA |
c.1324_1325delinsGA |
p.Ser442Asp |
Missense |
12/28 |
- |
1 |
7-55227857-AG-TT |
c.1324_1325delinsTT |
p.Ser442Phe |
Missense |
12/28 |
- |
3 |
7-55227857-AG-CT |
c.1324_1325inv |
p.Ser442Leu |
Missense |
12/28 |
- |
1 |
7-55227858-GC-AG |
c.1325_1326delinsAG |
p.Ser442Lys |
Missense |
12/28 |
- |
1 |
7-55227861-T-A |
c.1328T>A |
p.Leu443Gln |
Missense |
12/28 |
- |
1 |
7-55227870-C-A |
c.1337C>A |
p.Thr446Lys |
Missense |
12/28 |
- |
2 |
7-55227873-C-A |
c.1340C>A |
p.Ser447Tyr |
Missense |
12/28 |
- |
1 |
7-55227879-G-T |
c.1346G>T |
p.Gly449Val |
Missense |
12/28 |
- |
1 |
7-55227884-C-T |
c.1351C>T |
p.Arg451Cys |
Missense |
12/28 |
- |
12 |
7-55227884-CG-TT |
c.1351_1352delinsTT |
p.Arg451Phe |
Missense |
12/28 |
- |
1 |
7-55227893-AA-GC |
c.1360_1361delinsGC |
p.Lys454Ala |
Missense |
12/28 |
- |
1 |
7-55227896-GA-TC |
c.1363_1364inv |
p.Glu455Ser |
Missense |
12/28 |
- |
1 |
7-55227899-A-G |
c.1366A>G |
p.Ile456Val |
Missense |
12/28 |
- |
1 |
7-55227902-AG-GC |
c.1369_1370delinsGC |
p.Ser457Ala |
Missense |
12/28 |
- |
1 |
7-55227905-G-A |
c.1372G>A |
p.Asp458Asn |
Missense |
12/28 |
- |
1 |
7-55227909-G-A |
c.1376G>A |
p.Gly459Glu |
Missense |
12/28 |
- |
1 |
7-55227914-G-T |
c.1381G>T |
p.Val461Leu |
Missense |
12/28 |
- |
1 |
7-55227914-G-C |
c.1381G>C |
p.Val461Leu |
Missense |
12/28 |
- |
1 |
7-55227914-GT-TC |
c.1381_1382delinsTC |
p.Val461Ser |
Missense |
12/28 |
- |
1 |
7-55227918-TA-GC |
c.1385_1386delinsGC |
p.Ile462Ser |
Missense |
12/28 |
- |
2 |
7-55227923-T-C |
c.1390T>C |
p.Ser464Pro |
Missense |
12/28 |
- |
1 |
7-55227924-C-T |
c.1391C>T |
p.Ser464Leu |
Missense |
12/28 |
- |
12 |
7-55227926-G-A |
c.1393G>A |
p.Gly465Arg |
Missense |
12/28 |
- |
21 |
7-55227926-G-C |
c.1393G>C |
p.Gly465Arg |
Missense |
12/28 |
- |
21 |
7-55227927-G-C |
c.1394G>C |
p.Gly465Ala |
Missense |
12/28 |
- |
3 |
7-55227927-G-A |
c.1394G>A |
p.Gly465Glu |
Missense |
12/28 |
- |
6 |
7-55227927-G-T |
c.1394G>T |
p.Gly465Val |
Missense |
12/28 |
- |
8 |
7-55227932-A-T |
c.1399A>T |
p.Lys467* |
Nonsense |
12/28 |
- |
1 |
7-55227933-A-C |
c.1400A>C |
p.Lys467Thr |
Missense |
12/28 |
- |
4 |
7-55227935-A-G |
c.1402A>G |
p.Asn468Asp |
Missense |
12/28 |
- |
1 |
7-55227939-T-C |
c.1406T>C |
p.Leu469Ser |
Missense |
12/28 |
- |
1 |
7-55227939-T-G |
c.1406T>G |
p.Leu469Trp |
Missense |
12/28 |
- |
1 |
7-55227945-A-T |
c.1412A>T |
p.Tyr471Phe |
Missense |
12/28 |
- |
1 |
7-55227948-C-G |
c.1415C>G |
p.Ala472Gly |
Missense |
12/28 |
- |
1 |
7-55227949-A-T |
c.1416A>T |
p.Ala472Ala |
Synonymous |
12/28 |
- |
1 |
7-55227950-AA-GC |
c.1417_1418delinsGC |
p.Asn473Ala |
Missense |
12/28 |
- |
1 |
7-55227952-T-A |
c.1419T>A |
p.Asn473Lys |
Missense |
12/28 |
- |
1 |
7-55227952-T-G |
c.1419T>G |
p.Asn473Lys |
Missense |
12/28 |
- |
1 |
7-55227953-ACA-GAC |
c.1420_1422delinsGAC |
p.Thr474Asp |
Missense |
12/28 |
- |
1 |
7-55227953-A-G |
c.1420A>G |
p.Thr474Ala |
Missense |
12/28 |
- |
2 |
7-55227954-C-T |
c.1421C>T |
p.Thr474Ile |
Missense |
12/28 |
- |
2 |
7-55227954-CA-TG |
c.1421_1422inv |
p.Thr474Met |
Missense |
12/28 |
- |
1 |
7-55227955-A-T |
c.1422A>T |
p.Thr474Thr |
Synonymous |
12/28 |
- |
1 |
7-55227955-A-G |
c.1422A>G |
p.Thr474Thr |
Synonymous |
12/28 |
- |
1 |
7-55227955-A-C |
c.1422A>C |
p.Thr474Thr |
Synonymous |
12/28 |
- |
1 |
7-55227959-A-G |
c.1426A>G |
p.Asn476Asp |
Missense |
12/28 |
- |
1 |
7-55227963-G-A |
c.1430G>A |
p.Trp477* |
Nonsense |
12/28 |
- |
1 |
7-55227965-AA-GC |
c.1432_1433delinsGC |
p.Lys478Ala |
Missense |
12/28 |
- |
1 |
7-55227971-CTG-GAC |
c.1438_1440delinsGAC |
p.Leu480Asp |
Missense |
12/28 |
- |
1 |
7-55227976-T-A |
c.1443T>A |
p.Phe481Leu |
Missense |
12/28 |
- |
1 |
7-55227976-T-G |
c.1443T>G |
p.Phe481Leu |
Missense |
12/28 |
- |
1 |
7-55227974-T-C |
c.1441T>C |
p.Phe481Leu |
Missense |
12/28 |
- |
1 |
7-55227977-G-A |
c.1444G>A |
p.Gly482Arg |
Missense |
12/28 |
- |
1 |
7-55227977-G-C |
c.1444G>C |
p.Gly482Arg |
Missense |
12/28 |
- |
1 |
7-55227978-GG-AC |
c.1445_1446delinsAC |
p.Gly482Asp |
Missense |
12/28 |
- |
1 |
7-55227978-G-A |
c.1445G>A |
p.Gly482Glu |
Missense |
12/28 |
- |
1 |
7-55227978-G-T |
c.1445G>T |
p.Gly482Val |
Missense |
12/28 |
- |
1 |
7-55227980-GACCTCCGGT-G |
c.1447_1455del |
p.Thr483_Gly485del |
InFrameDeletion |
12/28 |
- |
1 |
7-55227992-A-G |
c.1459A>G |
p.Lys487Glu |
Missense |
12/28 |
- |
1 |
7-55227995-A-G |
c.1462A>G |
p.Thr488Ala |
Missense |
12/28 |
- |
1 |
7-55227998-A-G |
c.1465A>G |
p.Lys489Glu |
Missense |
12/28 |
- |
1 |
7-55227998-AA-GC |
c.1465_1466delinsGC |
p.Lys489Ala |
Missense |
12/28 |
- |
1 |
7-55228001-A-G |
c.1468A>G |
p.Ile490Val |
Missense |
12/28 |
- |
1 |
7-55228005-T-A |
c.1472T>A |
p.Ile491Lys |
Missense |
12/28 |
- |
1 |
7-55228006-A-G |
c.1473A>G |
p.Ile491Met |
Missense |
12/28 |
- |
9 |
7-55228007-AG-GT |
c.1474_1475delinsGT |
p.Ser492Val |
Missense |
12/28 |
- |
1 |
7-55228007-A-C |
c.1474A>C |
p.Ser492Arg |
Missense |
12/28 |
- |
100 |
7-55228009-C-A |
c.1476C>A |
p.Ser492Arg |
Missense |
12/28 |
- |
100 |
7-55228010-A-G |
c.1477A>G |
p.Asn493Asp |
Missense |
12/28 |
- |
1 |
7-55228011-A-G |
c.1478A>G |
p.Asn493Ser |
Missense |
12/28 |
- |
1 |
7-55228022-AA-GC |
c.1489_1490delinsGC |
p.Asn497Ala |
Missense |
12/28 |
- |
1 |
7-55228028-TG-AC |
c.1495_1496delinsAC |
p.Cys499Thr |
Missense |
12/28 |
- |
2 |
7-55228029-G-A |
c.1496G>A |
p.Cys499Tyr |
Missense |
12/28 |
- |
2 |
7-55228053-A-T |
c.1498+22A>T |
- |
IntronicSNV |
- |
12/27 |
7 |
7-55228053-A-C |
c.1498+22A>C |
- |
IntronicSNV |
- |
12/27 |
6 |
7-55228053-A-G |
c.1498+22A>G |
- |
IntronicSNV |
- |
12/27 |
6 |
7-55228173-C-T |
c.1498+142C>T |
- |
IntronicSNV |
- |
12/27 |
2 |
7-55229015-A-G |
c.1499-177A>G |
- |
IntronicSNV |
- |
12/27 |
2 |
7-55229194-G-A |
c.1501G>A |
p.Ala501Thr |
Missense |
13/28 |
- |
1 |
7-55229202-C-T |
c.1509C>T |
p.Gly503Gly |
Synonymous |
13/28 |
- |
1 |
7-55229203-C-A |
c.1510C>A |
p.Gln504Lys |
Missense |
13/28 |
- |
1 |
7-55229216-C-T |
c.1523C>T |
p.Ala508Val |
Missense |
13/28 |
- |
1 |
7-55229222-G-A |
c.1529G>A |
p.Cys510Tyr |
Missense |
13/28 |
- |
1 |
7-55229229-C-CT |
c.1536_1537insT |
p.Glu513* |
Nonsense |
13/28 |
- |
1 |
7-55229231-A-G |
c.1538A>G |
p.Glu513Gly |
Missense |
13/28 |
- |
1 |
7-55229231-A-C |
c.1538A>C |
p.Glu513Ala |
Missense |
13/28 |
- |
1 |
7-55229236-T-G |
c.1543T>G |
p.Cys515Gly |
Missense |
13/28 |
- |
1 |
7-55229243-G-C |
c.1550G>C |
p.Gly517Ala |
Missense |
13/28 |
- |
1 |
7-55229246-C-T |
c.1553C>T |
p.Pro518Leu |
Missense |
13/28 |
- |
1 |
7-55229254-AG-CT |
c.1561_1562inv |
p.Arg521Leu |
Missense |
13/28 |
- |
1 |
7-55229254-A-G |
c.1561A>G |
p.Arg521Gly |
Missense |
13/28 |
- |
1 |
7-55229255-G-C |
c.1562G>C |
p.Arg521Thr |
Missense |
13/28 |
- |
30 |
7-55229255-G-T |
c.1562G>T |
p.Arg521Met |
Missense |
13/28 |
- |
30 |
7-55229255-G-A |
c.1562G>A |
p.Arg521Lys |
Missense |
13/28 |
- |
78 |
7-55229263-G-A |
c.1570G>A |
p.Val524Ile |
Missense |
13/28 |
- |
1 |
7-55229263-CG-C |
c.1570del |
p.Val524Serfs*44 |
Frameshift |
13/28 |
- |
1 |
7-55229263-GT-AG |
c.1570_1571delinsAG |
p.Val524Ser |
Missense |
13/28 |
- |
1 |
7-55229267-C-T |
c.1574C>T |
p.Ser525Phe |
Missense |
13/28 |
- |
1 |
7-55229269-T-G |
c.1576T>G |
p.Cys526Gly |
Missense |
13/28 |
- |
1 |
7-55229271-C-G |
c.1578C>G |
p.Cys526Trp |
Missense |
13/28 |
- |
1 |
7-55229275-A-G |
c.1582A>G |
p.Asn528Asp |
Missense |
13/28 |
- |
1 |
7-55229276-AT-GG |
c.1583_1584delinsGG |
p.Asn528Arg |
Missense |
13/28 |
- |
1 |
7-55229281-AG-GC |
c.1588_1589delinsGC |
p.Ser530Ala |
Missense |
13/28 |
- |
1 |
7-55229290-AG-GC |
c.1597_1598delinsGC |
p.Arg533Ala |
Missense |
13/28 |
- |
4 |
7-55229296-TG-AC |
c.1603_1604delinsAC |
p.Cys535Thr |
Missense |
13/28 |
- |
1 |
7-55229299-G-A |
c.1606G>A |
p.Val536Met |
Missense |
13/28 |
- |
1 |
7-55229300-T-C |
c.1607T>C |
p.Val536Ala |
Missense |
13/28 |
- |
1 |
7-55229305-AA-GC |
c.1612_1613delinsGC |
p.Lys538Ala |
Missense |
13/28 |
- |
2 |
7-55229306-A-G |
c.1613A>G |
p.Lys538Arg |
Missense |
13/28 |
- |
1 |
7-55229307-G-T |
c.1614G>T |
p.Lys538Asn |
Missense |
13/28 |
- |
1 |
7-55229307-G-C |
c.1614G>C |
p.Lys538Asn |
Missense |
13/28 |
- |
1 |
7-55229320-G-T |
c.1627G>T |
p.Glu543* |
Nonsense |
13/28 |
- |
1 |
7-55229320-GAG-ATGAAG |
c.1627delinsATGA |
p.Glu543delinsMetLys |
MultiAAMissense |
13/28 |
- |
1 |
7-55229320-G-A |
c.1627G>A |
p.Glu543Lys |
Missense |
13/28 |
- |
1 |
7-55229321-GAGG-G |
c.1628_1630del |
p.Glu543del |
InFrameDeletion |
13/28 |
- |
1 |
7-55229321-A-G |
c.1628A>G |
p.Glu543Gly |
Missense |
13/28 |
- |
1 |
7-55229322-G-GTA |
c.1629_1630insTA |
p.Gly544* |
SpliceDonorInsertion |
13/28 |
- |
1 |
7-55229543-T-C |
c.1631+219T>C |
- |
IntronicSNV |
- |
13/27 |
11 |
7-55230105-C-T |
c.1631+781C>T |
- |
IntronicSNV |
- |
13/27 |
6 |
7-55230840-A-G |
c.1632-586A>G |
- |
IntronicSNV |
- |
13/27 |
2 |
7-55230840-A-T |
c.1632-586A>T |
- |
IntronicSNV |
- |
13/27 |
2 |
7-55231426-T-C |
c.1632T>C |
p.Gly544Gly |
Synonymous |
14/28 |
- |
1 |
7-55231427-G-C |
c.1633G>C |
p.Glu545Gln |
Missense |
14/28 |
- |
1 |
7-55231427-G-A |
c.1633G>A |
p.Glu545Lys |
Missense |
14/28 |
- |
33 |
7-55231428-A-C |
c.1634A>C |
p.Glu545Ala |
Missense |
14/28 |
- |
2 |
7-55231430-C-T |
c.1636C>T |
p.Pro546Ser |
Missense |
14/28 |
- |
2 |
7-55231430-C-A |
c.1636C>A |
p.Pro546Thr |
Missense |
14/28 |
- |
1 |
7-55231430-C-G |
c.1636C>G |
p.Pro546Ala |
Missense |
14/28 |
- |
1 |
7-55231431-C-T |
c.1637C>T |
p.Pro546Leu |
Missense |
14/28 |
- |
1 |
7-55231432-A-G |
c.1638A>G |
p.Pro546Pro |
Synonymous |
14/28 |
- |
1 |
7-55231433-AG-GC |
c.1639_1640delinsGC |
p.Arg547Ala |
Missense |
14/28 |
- |
1 |
7-55231436-GA-TC |
c.1642_1643inv |
p.Glu548Ser |
Missense |
14/28 |
- |
3 |
7-55231439-T-C |
c.1645T>C |
p.Phe549Leu |
Missense |
14/28 |
- |
2 |
7-55231441-T-G |
c.1647T>G |
p.Phe549Leu |
Missense |
14/28 |
- |
2 |
7-55231441-T-A |
c.1647T>A |
p.Phe549Leu |
Missense |
14/28 |
- |
2 |
7-55231440-T-C |
c.1646T>C |
p.Phe549Ser |
Missense |
14/28 |
- |
2 |
7-55231443-T-A |
c.1649T>A |
p.Val550Glu |
Missense |
14/28 |
- |
1 |
7-55231449-A-C |
c.1655A>C |
p.Asn552Thr |
Missense |
14/28 |
- |
1 |
7-55231452-C-T |
c.1658C>T |
p.Ser553Phe |
Missense |
14/28 |
- |
1 |
7-55231460-AT-GC |
c.1666_1667delinsGC |
p.Ile556Ala |
Missense |
14/28 |
- |
1 |
7-55231461-T-A |
c.1667T>A |
p.Ile556Lys |
Missense |
14/28 |
- |
2 |
7-55231466-TG-GC |
c.1672_1673delinsGC |
p.Cys558Ala |
Missense |
14/28 |
- |
1 |
7-55231467-TGCCACC-T |
c.1673_1678del |
p.Cys558_Pro560delinsSer |
MultiAAMissense |
14/28 |
- |
1 |
7-55231467-G-A |
c.1673G>A |
p.Cys558Tyr |
Missense |
14/28 |
- |
1 |
7-55231475-G-A |
c.1681G>A |
p.Glu561Lys |
Missense |
14/28 |
- |
1 |
7-55231482-T-C |
c.1688T>C |
p.Leu563Pro |
Missense |
14/28 |
- |
1 |
7-55231484-C-G |
c.1690C>G |
p.Pro564Ala |
Missense |
14/28 |
- |
1 |
7-55231495-G-C |
c.1701G>C |
p.Met567Ile |
Missense |
14/28 |
- |
1 |
7-55231495-G-T |
c.1701G>T |
p.Met567Ile |
Missense |
14/28 |
- |
1 |
7-55231495-G-A |
c.1701G>A |
p.Met567Ile |
Missense |
14/28 |
- |
1 |
7-55231509-C-G |
c.1715C>G |
p.Thr572Arg |
Missense |
14/28 |
- |
1 |
7-55231515-G-T |
c.1721G>T |
p.Arg574Leu |
Missense |
14/28 |
- |
1 |
7-55232246-T-C |
c.1723-727T>C |
- |
IntronicSNV |
- |
14/27 |
2 |
7-55232333-A-G |
c.1723-640A>G |
- |
IntronicSNV |
- |
14/27 |
3 |
7-55232991-CA-AC |
c.1741_1742delinsAC |
p.Gln581Thr |
Missense |
15/28 |
- |
1 |
7-55233001-A-G |
c.1751A>G |
p.His584Arg |
Missense |
15/28 |
- |
1 |
7-55233006-A-G |
c.1756A>G |
p.Ile586Val |
Missense |
15/28 |
- |
1 |
7-55233009-G-C |
c.1759G>C |
p.Asp587His |
Missense |
15/28 |
- |
1 |
7-55233016-C-T |
c.1766C>T |
p.Pro589Leu |
Missense |
15/28 |
- |
1 |
7-55233021-TG-AC |
c.1771_1772delinsAC |
p.Cys591Thr |
Missense |
15/28 |
- |
1 |
7-55233024-G-A |
c.1774G>A |
p.Val592Ile |
Missense |
15/28 |
- |
4 |
7-55233025-TC-AG |
c.1775_1776delinsAG |
p.Val592Glu |
Missense |
15/28 |
- |
2 |
7-55233025-T-C |
c.1775T>C |
p.Val592Ala |
Missense |
15/28 |
- |
3 |
7-55233028-A-G |
c.1778A>G |
p.Lys593Arg |
Missense |
15/28 |
- |
1 |
7-55233033-T-G |
c.1783T>G |
p.Cys595Gly |
Missense |
15/28 |
- |
1 |
7-55233037-C-T |
c.1787C>T |
p.Pro596Leu |
Missense |
15/28 |
- |
8 |
7-55233038-G-C |
c.1788G>C |
p.Pro596Pro |
Synonymous |
15/28 |
- |
2 |
7-55233038-G-A |
c.1788G>A |
p.Pro596Pro |
Synonymous |
15/28 |
- |
2 |
7-55233038-G-T |
c.1788G>T |
p.Pro596Pro |
Synonymous |
15/28 |
- |
2 |
7-55233039-G-C |
c.1789G>C |
p.Ala597Pro |
Missense |
15/28 |
- |
1 |
7-55233039-G-A |
c.1789G>A |
p.Ala597Thr |
Missense |
15/28 |
- |
1 |
7-55233042-G-T |
c.1792G>T |
p.Gly598* |
Nonsense |
15/28 |
- |
1 |
7-55233043-GA-AC |
c.1793_1794delinsAC |
p.Gly598Asp |
Missense |
15/28 |
- |
1 |
7-55233043-G-C |
c.1793G>C |
p.Gly598Ala |
Missense |
15/28 |
- |
1 |
7-55233043-G-T |
c.1793G>T |
p.Gly598Val |
Missense |
15/28 |
- |
38 |
7-55233045-GTC-ATG |
c.1795_1797delinsATG |
p.Val599Met |
Missense |
15/28 |
- |
2 |
7-55233046-T-A |
c.1796T>A |
p.Val599Asp |
Missense |
15/28 |
- |
3 |
7-55233046-TC-AG |
c.1796_1797delinsAG |
p.Val599Glu |
Missense |
15/28 |
- |
39 |
7-55233048-A-G |
c.1798A>G |
p.Met600Val |
Missense |
15/28 |
- |
1 |
7-55233048-A-T |
c.1798A>T |
p.Met600Leu |
Missense |
15/28 |
- |
1 |
7-55233049-T-A |
c.1799T>A |
p.Met600Lys |
Missense |
15/28 |
- |
4 |
7-55233049-T-C |
c.1799T>C |
p.Met600Thr |
Missense |
15/28 |
- |
3 |
7-55233051-GGA-AGC |
c.1801_1803delinsAGC |
p.Gly601Ser |
Missense |
15/28 |
- |
1 |
7-55233052-G-A |
c.1802G>A |
p.Gly601Glu |
Missense |
15/28 |
- |
1 |
7-55233054-GA-AC |
c.1804_1805delinsAC |
p.Glu602Thr |
Missense |
15/28 |
- |
1 |
7-55233064-C-A |
c.1814C>A |
p.Thr605Asn |
Missense |
15/28 |
- |
1 |
7-55233079-A-G |
c.1829A>G |
p.Tyr610Cys |
Missense |
15/28 |
- |
1 |
7-55233081-G-A |
c.1831G>A |
p.Ala611Thr |
Missense |
15/28 |
- |
2 |
7-55233087-G-A |
c.1837G>A |
p.Ala613Thr |
Missense |
15/28 |
- |
2 |
7-55233089-C-T |
c.1839C>T |
p.Ala613Ala |
Synonymous |
15/28 |
- |
1 |
7-55233089-C-A |
c.1839C>A |
p.Ala613Ala |
Synonymous |
15/28 |
- |
1 |
7-55233090-G-A |
c.1840G>A |
p.Gly614Ser |
Missense |
15/28 |
- |
1 |
7-55233103-A-C |
c.1853A>C |
p.His618Pro |
Missense |
15/28 |
- |
1 |
7-55233107-G-T |
c.1857G>T |
p.Leu619Leu |
Synonymous |
15/28 |
- |
1 |
7-55233107-G-C |
c.1857G>C |
p.Leu619Leu |
Synonymous |
15/28 |
- |
1 |
7-55233105-C-T |
c.1855C>T |
p.Leu619Leu |
Synonymous |
15/28 |
- |
1 |
7-55233107-G-A |
c.1857G>A |
p.Leu619Leu |
Synonymous |
15/28 |
- |
1 |
7-55233108-TG-GC |
c.1858_1859delinsGC |
p.Cys620Ala |
Missense |
15/28 |
- |
2 |
7-55233109-G-A |
c.1859G>A |
p.Cys620Tyr |
Missense |
15/28 |
- |
2 |
7-55233110-C-G |
c.1860C>G |
p.Cys620Trp |
Missense |
15/28 |
- |
1 |
7-55233121-G-C |
c.1871G>C |
p.Cys624Ser |
Missense |
15/28 |
- |
1 |
7-55233120-T-A |
c.1870T>A |
p.Cys624Ser |
Missense |
15/28 |
- |
1 |
7-55233120-TG-AC |
c.1870_1871delinsAC |
p.Cys624Thr |
Missense |
15/28 |
- |
1 |
7-55233120-TG-GC |
c.1870_1871delinsGC |
p.Cys624Ala |
Missense |
15/28 |
- |
2 |
7-55233121-G-T |
c.1871G>T |
p.Cys624Phe |
Missense |
15/28 |
- |
3 |
7-55233126-T-C |
c.1876T>C |
p.Tyr626His |
Missense |
15/28 |
- |
1 |
7-55233128-C-T |
c.1878C>T |
p.Tyr626Tyr |
Synonymous |
15/28 |
- |
1 |
7-55236020-T-C |
c.1881-2848T>C |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55237283-A-G |
c.1881-1585A>G |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238087-C-T |
c.1881-781C>T |
- |
IntronicSNV |
- |
15/27 |
1 |
7-55238268-G-T |
c.1881-600G>T |
- |
IntronicSNV |
- |
15/27 |
6 |
7-55238268-G-C |
c.1881-600G>C |
- |
IntronicSNV |
- |
15/27 |
6 |
7-55238268-G-A |
c.1881-600G>A |
- |
IntronicSNV |
- |
15/27 |
6 |
7-55238464-T-A |
c.1881-404T>A |
- |
IntronicSNV |
- |
15/27 |
2 |
7-55238464-T-G |
c.1881-404T>G |
- |
IntronicSNV |
- |
15/27 |
2 |
7-55238870-G-A |
c.1883G>A |
p.Cys628Tyr |
Missense |
16/28 |
- |
1 |
7-55238870-G-T |
c.1883G>T |
p.Cys628Phe |
Missense |
16/28 |
- |
1 |
7-55238874-T-C |
c.1887T>C |
p.Thr629Thr |
Synonymous |
16/28 |
- |
1 |
7-55238874-T-A |
c.1887T>A |
p.Thr629Thr |
Synonymous |
16/28 |
- |
2 |
7-55238874-T-G |
c.1887T>G |
p.Thr629Thr |
Synonymous |
16/28 |
- |
2 |
7-55238879-C-G |
c.1892C>G |
p.Pro631Arg |
Missense |
16/28 |
- |
1 |
7-55238884-TCTT-T |
c.1897_1899del |
p.Leu633del |
InFrameDeletion |
16/28 |
- |
1 |
7-55238894-G-A |
c.1907G>A |
p.Cys636Tyr |
Missense |
16/28 |
- |
1 |
7-55238894-G-T |
c.1907G>T |
p.Cys636Phe |
Missense |
16/28 |
- |
1 |
7-55238899-A-C |
c.1912A>C |
p.Thr638Pro |
Missense |
16/28 |
- |
1 |
7-55239979-G-A |
c.1920-697G>A |
- |
IntronicSNV |
- |
16/27 |
1 |
7-55240461-G-C |
c.1920-215G>C |
- |
IntronicSNV |
- |
16/27 |
2 |
7-55240680-AA-GG |
c.1924_1925delinsGG |
p.Lys642Gly |
Missense |
17/28 |
- |
2 |
7-55240680-A-G |
c.1924A>G |
p.Lys642Glu |
Missense |
17/28 |
- |
4 |
7-55240681-A-G |
c.1925A>G |
p.Lys642Arg |
Missense |
17/28 |
- |
1 |
7-55240683-A-G |
c.1927A>G |
p.Ile643Val |
Missense |
17/28 |
- |
2 |
7-55240689-T-G |
c.1933T>G |
p.Ser645Ala |
Missense |
17/28 |
- |
1 |
7-55240690-C-G |
c.1934C>G |
p.Ser645Cys |
Missense |
17/28 |
- |
5 |
7-55240693-T-G |
c.1937T>G |
p.Ile646Ser |
Missense |
17/28 |
- |
1 |
7-55240699-C-T |
c.1943C>T |
p.Thr648Ile |
Missense |
17/28 |
- |
1 |
7-55240702-G-C |
c.1946G>C |
p.Gly649Ala |
Missense |
17/28 |
- |
1 |
7-55240707-G-T |
c.1951G>T |
p.Val651Leu |
Missense |
17/28 |
- |
1 |
7-55240707-G-A |
c.1951G>A |
p.Val651Met |
Missense |
17/28 |
- |
1 |
7-55240707-G-C |
c.1951G>C |
p.Val651Leu |
Missense |
17/28 |
- |
1 |
7-55240710-G-T |
c.1954G>T |
p.Gly652Trp |
Missense |
17/28 |
- |
1 |
7-55240711-GG-AC |
c.1955_1956delinsAC |
p.Gly652Asp |
Missense |
17/28 |
- |
1 |
7-55240717-T-G |
c.1961T>G |
p.Leu654Arg |
Missense |
17/28 |
- |
1 |
7-55240732-T-A |
c.1976T>A |
p.Val659Glu |
Missense |
17/28 |
- |
5 |
7-55240735-T-A |
c.1979T>A |
p.Val660Glu |
Missense |
17/28 |
- |
6 |
7-55240737-GC-TG |
c.1981_1982delinsTG |
p.Ala661Cys |
Missense |
17/28 |
- |
3 |
7-55240737-GC-AT |
c.1981_1982delinsAT |
p.Ala661Ile |
Missense |
17/28 |
- |
1 |
7-55240737-G-T |
c.1981G>T |
p.Ala661Ser |
Missense |
17/28 |
- |
1 |
7-55240744-G-A |
c.1988G>A |
p.Gly663Glu |
Missense |
17/28 |
- |
2 |
7-55240756-T-G |
c.2000T>G |
p.Phe667Cys |
Missense |
17/28 |
- |
1 |
7-55240761-C-T |
c.2005C>T |
p.Arg669* |
Nonsense |
17/28 |
- |
1 |
7-55240761-CGA-TGT |
c.2005_2007delinsTGT |
p.Arg669Cys |
Missense |
17/28 |
- |
1 |
7-55240762-G-A |
c.2006G>A |
p.Arg669Gln |
Missense |
17/28 |
- |
1 |
7-55240762-CG-C |
c.2006del |
p.Arg669Glnfs*36 |
Frameshift |
17/28 |
- |
1 |
7-55240764-A-T |
c.2008A>T |
p.Arg670Trp |
Missense |
17/28 |
- |
3 |
7-55240776-G-A |
c.2020G>A |
p.Val674Ile |
Missense |
17/28 |
- |
1 |
7-55240776-G-T |
c.2020G>T |
p.Val674Phe |
Missense |
17/28 |
- |
2 |
7-55240779-CG-GA |
c.2023_2024delinsGA |
p.Arg675Glu |
Missense |
17/28 |
- |
1 |
7-55240783-A-G |
c.2027A>G |
p.Lys676Arg |
Missense |
17/28 |
- |
1 |
7-55240785-C-T |
c.2029C>T |
p.Arg677Cys |
Missense |
17/28 |
- |
1 |
7-55240786-G-A |
c.2030G>A |
p.Arg677His |
Missense |
17/28 |
- |
2 |
7-55240789-C-T |
c.2033C>T |
p.Thr678Met |
Missense |
17/28 |
- |
1 |
7-55240791-CTG-TTT |
c.2035_2037delinsTTT |
p.Leu679Phe |
Missense |
17/28 |
- |
4 |
7-55240791-CT-GC |
c.2035_2036delinsGC |
p.Leu679Ala |
Missense |
17/28 |
- |
1 |
7-55240795-G-A |
c.2039G>A |
p.Arg680Gln |
Missense |
17/28 |
- |
1 |
7-55240809-GA-TC |
c.2053_2054inv |
p.Glu685Ser |
Missense |
17/28 |
- |
2 |
7-55240810-A-G |
c.2054A>G |
p.Glu685Gly |
Missense |
17/28 |
- |
3 |
7-55240816-A-C |
c.2060A>C |
p.Glu687Ala |
Missense |
17/28 |
- |
1 |
7-55241510-C-A |
c.2062-104C>A |
- |
IntronicSNV |
- |
17/27 |
1 |
7-55241614-C-T |
c.2062C>T |
p.Leu688Phe |
Missense |
18/28 |
- |
3 |
7-55241615-T-C |
c.2063T>C |
p.Leu688Pro |
Missense |
18/28 |
- |
2 |
7-55241617-G-C |
c.2065G>C |
p.Val689Leu |
Missense |
18/28 |
- |
7 |
7-55241617-G-A |
c.2065G>A |
p.Val689Met |
Missense |
18/28 |
- |
9 |
7-55241617-G-T |
c.2065G>T |
p.Val689Leu |
Missense |
18/28 |
- |
7 |
7-55241619-G-C |
c.2067G>C |
p.Val689Val |
Synonymous |
18/28 |
- |
1 |
7-55241619-G-A |
c.2067G>A |
p.Val689Val |
Synonymous |
18/28 |
- |
1 |
7-55241619-G-T |
c.2067G>T |
p.Val689Val |
Synonymous |
18/28 |
- |
1 |
7-55241620-G-A |
c.2068G>A |
p.Glu690Lys |
Missense |
18/28 |
- |
3 |
7-55241623-C-A |
c.2071C>A |
p.Pro691Thr |
Missense |
18/28 |
- |
1 |
7-55241623-C-T |
c.2071C>T |
p.Pro691Ser |
Missense |
18/28 |
- |
3 |
7-55241626-C-T |
c.2074C>T |
p.Leu692Phe |
Missense |
18/28 |
- |
1 |
7-55241626-C-G |
c.2074C>G |
p.Leu692Val |
Missense |
18/28 |
- |
10 |
7-55241627-T-C |
c.2075T>C |
p.Leu692Pro |
Missense |
18/28 |
- |
5 |
7-55241629-A-G |
c.2077A>G |
p.Thr693Ala |
Missense |
18/28 |
- |
1 |
7-55241632-CCC-TAA |
c.2080_2082delinsTAA |
p.Pro694* |
Nonsense |
18/28 |
- |
1 |
7-55241632-C-T |
c.2080C>T |
p.Pro694Ser |
Missense |
18/28 |
- |
1 |
7-55241633-C-T |
c.2081C>T |
p.Pro694Leu |
Missense |
18/28 |
- |
3 |
7-55241635-A-G |
c.2083A>G |
p.Ser695Gly |
Missense |
18/28 |
- |
1 |
7-55241636-G-A |
c.2084G>A |
p.Ser695Asn |
Missense |
18/28 |
- |
1 |
7-55241637-T-A |
c.2085T>A |
p.Ser695Arg |
Missense |
18/28 |
- |
1 |
7-55241637-T-G |
c.2085T>G |
p.Ser695Arg |
Missense |
18/28 |
- |
1 |
7-55241635-A-C |
c.2083A>C |
p.Ser695Arg |
Missense |
18/28 |
- |
1 |
7-55241638-G-A |
c.2086G>A |
p.Gly696Arg |
Missense |
18/28 |
- |
2 |
7-55241638-G-C |
c.2086G>C |
p.Gly696Arg |
Missense |
18/28 |
- |
2 |
7-55241641-G-C |
c.2089G>C |
p.Glu697Gln |
Missense |
18/28 |
- |
1 |
7-55241644-G-A |
c.2092G>A |
p.Ala698Thr |
Missense |
18/28 |
- |
2 |
7-55241647-C-T |
c.2095C>T |
p.Pro699Ser |
Missense |
18/28 |
- |
4 |
7-55241647-CC-GG |
c.2095_2096inv |
p.Pro699Gly |
Missense |
18/28 |
- |
1 |
7-55241650-A-G |
c.2098A>G |
p.Asn700Asp |
Missense |
18/28 |
- |
6 |
7-55241651-A-G |
c.2099A>G |
p.Asn700Ser |
Missense |
18/28 |
- |
1 |
7-55241653-C-T |
c.2101C>T |
p.Gln701* |
Nonsense |
18/28 |
- |
1 |
7-55241653-CA-AC |
c.2101_2102delinsAC |
p.Gln701Thr |
Missense |
18/28 |
- |
1 |
7-55241654-A-T |
c.2102A>T |
p.Gln701Leu |
Missense |
18/28 |
- |
5 |
7-55241654-A-G |
c.2102A>G |
p.Gln701Arg |
Missense |
18/28 |
- |
2 |
7-55241656-G-T |
c.2104G>T |
p.Ala702Ser |
Missense |
18/28 |
- |
3 |
7-55241657-C-T |
c.2105C>T |
p.Ala702Val |
Missense |
18/28 |
- |
3 |
7-55241657-C-A |
c.2105C>A |
p.Ala702Asp |
Missense |
18/28 |
- |
2 |
7-55241659-C-T |
c.2107C>T |
p.Leu703Phe |
Missense |
18/28 |
- |
5 |
7-55241659-C-G |
c.2107C>G |
p.Leu703Val |
Missense |
18/28 |
- |
1 |
7-55241660-T-C |
c.2108T>C |
p.Leu703Pro |
Missense |
18/28 |
- |
3 |
7-55241662-TTG-AAC |
c.2110_2112delinsAAC |
p.Leu704Asn |
Missense |
18/28 |
- |
5 |
7-55241663-T-C |
c.2111T>C |
p.Leu704Ser |
Missense |
18/28 |
- |
1 |
7-55241665-A-G |
c.2113A>G |
p.Arg705Gly |
Missense |
18/28 |
- |
3 |
7-55241666-G-A |
c.2114G>A |
p.Arg705Lys |
Missense |
18/28 |
- |
3 |
7-55241668-ATC-CAA |
c.2116_2118delinsCAA |
p.Ile706Gln |
Missense |
18/28 |
- |
4 |
7-55241669-T-G |
c.2117T>G |
p.Ile706Ser |
Missense |
18/28 |
- |
1 |
7-55241669-T-C |
c.2117T>C |
p.Ile706Thr |
Missense |
18/28 |
- |
8 |
7-55241671-TT-AG |
c.2119_2120delinsAG |
p.Leu707Arg |
Missense |
18/28 |
- |
1 |
7-55241672-T-C |
c.2120T>C |
p.Leu707Ser |
Missense |
18/28 |
- |
3 |
7-55241672-T-G |
c.2120T>G |
p.Leu707Trp |
Missense |
18/28 |
- |
2 |
7-55241673-G-T |
c.2121G>T |
p.Leu707Phe |
Missense |
18/28 |
- |
1 |
7-55241673-G-C |
c.2121G>C |
p.Leu707Phe |
Missense |
18/28 |
- |
1 |
7-55241674-A-G |
c.2122A>G |
p.Lys708Glu |
Missense |
18/28 |
- |
1 |
7-55241675-A-T |
c.2123A>T |
p.Lys708Met |
Missense |
18/28 |
- |
3 |
7-55241675-A-G |
c.2123A>G |
p.Lys708Arg |
Missense |
18/28 |
- |
1 |
7-55241676-G-T |
c.2124G>T |
p.Lys708Asn |
Missense |
18/28 |
- |
3 |
7-55241677-GAA-ATG |
c.2125_2127delinsATG |
p.Glu709Met |
Missense |
18/28 |
- |
1 |
7-55241677-G-T |
c.2125G>T |
p.Glu709* |
Nonsense |
18/28 |
- |
29 |
7-55241677-G-C |
c.2125G>C |
p.Glu709Gln |
Missense |
18/28 |
- |
7 |
7-55241677-GAA-CAT |
c.2125_2127delinsCAT |
p.Glu709His |
Missense |
18/28 |
- |
6 |
7-55241677-G-A |
c.2125G>A |
p.Glu709Lys |
Missense |
18/28 |
- |
78 |
7-55241678-GAAA-G |
c.2126_2128del |
p.Glu709_Thr710delinsAla |
MultiAAMissense |
18/28 |
- |
1 |
7-55241678-A-C |
c.2126A>C |
p.Glu709Ala |
Missense |
18/28 |
- |
67 |
7-55241678-A-G |
c.2126A>G |
p.Glu709Gly |
Missense |
18/28 |
- |
29 |
7-55241678-A-T |
c.2126A>T |
p.Glu709Val |
Missense |
18/28 |
- |
17 |
7-55241679-AAAC-A |
c.2127_2129del |
p.Glu709_Thr710delinsAsp |
MultiAAMissense |
18/28 |
- |
5 |
7-55241679-A-T |
c.2127A>T |
p.Glu709Asp |
Missense |
18/28 |
- |
3 |
7-55241679-A-C |
c.2127A>C |
p.Glu709Asp |
Missense |
18/28 |
- |
6 |
7-55241680-AACT-A |
c.2128_2130del |
p.Thr710del |
InFrameDeletion |
18/28 |
- |
2 |
7-55241680-A-G |
c.2128A>G |
p.Thr710Ala |
Missense |
18/28 |
- |
1 |
7-55241681-C-T |
c.2129C>T |
p.Thr710Ile |
Missense |
18/28 |
- |
1 |
7-55241683-G-A |
c.2131G>A |
p.Glu711Lys |
Missense |
18/28 |
- |
4 |
7-55241684-A-T |
c.2132A>T |
p.Glu711Val |
Missense |
18/28 |
- |
2 |
7-55241684-A-C |
c.2132A>C |
p.Glu711Ala |
Missense |
18/28 |
- |
1 |
7-55241684-A-G |
c.2132A>G |
p.Glu711Gly |
Missense |
18/28 |
- |
1 |
7-55241686-TTC-CAA |
c.2134_2136delinsCAA |
p.Phe712Gln |
Missense |
18/28 |
- |
1 |
7-55241686-T-C |
c.2134T>C |
p.Phe712Leu |
Missense |
18/28 |
- |
2 |
7-55241688-C-A |
c.2136C>A |
p.Phe712Leu |
Missense |
18/28 |
- |
2 |
7-55241688-C-G |
c.2136C>G |
p.Phe712Leu |
Missense |
18/28 |
- |
2 |
7-55241687-T-C |
c.2135T>C |
p.Phe712Ser |
Missense |
18/28 |
- |
4 |
7-55241688-C-T |
c.2136C>T |
p.Phe712Phe |
Synonymous |
18/28 |
- |
1 |
7-55241689-AAA-CAT |
c.2137_2139delinsCAT |
p.Lys713His |
Missense |
18/28 |
- |
1 |
7-55241689-A-G |
c.2137A>G |
p.Lys713Glu |
Missense |
18/28 |
- |
2 |
7-55241692-A-G |
c.2140A>G |
p.Lys714Glu |
Missense |
18/28 |
- |
2 |
7-55241693-A-G |
c.2141A>G |
p.Lys714Arg |
Missense |
18/28 |
- |
1 |
7-55241694-G-C |
c.2142G>C |
p.Lys714Asn |
Missense |
18/28 |
- |
4 |
7-55241694-G-T |
c.2142G>T |
p.Lys714Asn |
Missense |
18/28 |
- |
4 |
7-55241695-A-T |
c.2143A>T |
p.Ile715Phe |
Missense |
18/28 |
- |
1 |
7-55241695-A-G |
c.2143A>G |
p.Ile715Val |
Missense |
18/28 |
- |
2 |
7-55241696-T-G |
c.2144T>G |
p.Ile715Ser |
Missense |
18/28 |
- |
3 |
7-55241698-A-G |
c.2146A>G |
p.Lys716Glu |
Missense |
18/28 |
- |
1 |
7-55241701-GTG-ATC |
c.2149_2151delinsATC |
p.Val717Ile |
Missense |
18/28 |
- |
3 |
7-55241701-GTG-TTT |
c.2149_2151delinsTTT |
p.Val717Phe |
Missense |
18/28 |
- |
1 |
7-55241702-T-G |
c.2150T>G |
p.Val717Gly |
Missense |
18/28 |
- |
1 |
7-55241702-T-C |
c.2150T>C |
p.Val717Ala |
Missense |
18/28 |
- |
2 |
7-55241704-CTG-AAC |
c.2152_2154delinsAAC |
p.Leu718Asn |
Missense |
18/28 |
- |
1 |
7-55241704-C-G |
c.2152C>G |
p.Leu718Val |
Missense |
18/28 |
- |
7 |
7-55241704-C-A |
c.2152C>A |
p.Leu718Met |
Missense |
18/28 |
- |
4 |
7-55241704-CT-TA |
c.2152_2153delinsTA |
p.Leu718* |
Nonsense |
18/28 |
- |
2 |
7-55241704-CT-GC |
c.2152_2153delinsGC |
p.Leu718Ala |
Missense |
18/28 |
- |
2 |
7-55241704-CTG-TTT |
c.2152_2154delinsTTT |
p.Leu718Phe |
Missense |
18/28 |
- |
1 |
7-55241705-T-C |
c.2153T>C |
p.Leu718Pro |
Missense |
18/28 |
- |
9 |
7-55241705-T-A |
c.2153T>A |
p.Leu718Gln |
Missense |
18/28 |
- |
64 |
7-55241705-T-G |
c.2153T>G |
p.Leu718Arg |
Missense |
18/28 |
- |
1 |
7-55241706-G-T |
c.2154G>T |
p.Leu718Leu |
Synonymous |
18/28 |
- |
1 |
7-55241706-G-C |
c.2154G>C |
p.Leu718Leu |
Synonymous |
18/28 |
- |
1 |
7-55241707-GGC-CAA |
c.2155_2157delinsCAA |
p.Gly719Gln |
Missense |
18/28 |
- |
1 |
7-55241707-GGG-G |
c.2155_2156del |
p.Gly719Leufs*9 |
Frameshift |
18/28 |
- |
1 |
7-55241707-GGC-TGA |
c.2155_2157delinsTGA |
p.Gly719* |
Nonsense |
18/28 |
- |
580 |
7-55241707-GG-AA |
c.2155_2156delinsAA |
p.Gly719Asn |
Missense |
18/28 |
- |
1 |
7-55241707-G-T |
c.2155G>T |
p.Gly719Cys |
Missense |
18/28 |
- |
246 |
7-55241707-G-C |
c.2155G>C |
p.Gly719Arg |
Missense |
18/28 |
- |
10 |
7-55241707-G-A |
c.2155G>A |
p.Gly719Ser |
Missense |
18/28 |
- |
412 |
7-55241707-GGC-ATG |
c.2155_2157delinsATG |
p.Gly719Met |
Missense |
18/28 |
- |
1 |
7-55241708-G-T |
c.2156G>T |
p.Gly719Val |
Missense |
18/28 |
- |
7 |
7-55241708-G-A |
c.2156G>A |
p.Gly719Asp |
Missense |
18/28 |
- |
46 |
7-55241708-G-C |
c.2156G>C |
p.Gly719Ala |
Missense |
18/28 |
- |
400 |
7-55241709-C-G |
c.2157C>G |
p.Gly719Gly |
Synonymous |
18/28 |
- |
1 |
7-55241709-C-T |
c.2157C>T |
p.Gly719Gly |
Synonymous |
18/28 |
- |
1 |
7-55241709-C-A |
c.2157C>A |
p.Gly719Gly |
Synonymous |
18/28 |
- |
1 |
7-55241710-T-A |
c.2158T>A |
p.Ser720Thr |
Missense |
18/28 |
- |
2 |
7-55241710-T-C |
c.2158T>C |
p.Ser720Pro |
Missense |
18/28 |
- |
9 |
7-55241711-C-T |
c.2159C>T |
p.Ser720Phe |
Missense |
18/28 |
- |
11 |
7-55241711-C-A |
c.2159C>A |
p.Ser720Tyr |
Missense |
18/28 |
- |
1 |
7-55241711-C-G |
c.2159C>G |
p.Ser720Cys |
Missense |
18/28 |
- |
1 |
7-55241713-G-T |
c.2161G>T |
p.Gly721Cys |
Missense |
18/28 |
- |
1 |
7-55241713-G-A |
c.2161G>A |
p.Gly721Ser |
Missense |
18/28 |
- |
5 |
7-55241713-G-C |
c.2161G>C |
p.Gly721Arg |
Missense |
18/28 |
- |
1 |
7-55241713-GGT-TGG |
c.2161_2163delinsTGG |
p.Gly721Trp |
Missense |
18/28 |
- |
1 |
7-55241714-G-C |
c.2162G>C |
p.Gly721Ala |
Missense |
18/28 |
- |
5 |
7-55241714-G-T |
c.2162G>T |
p.Gly721Val |
Missense |
18/28 |
- |
1 |
7-55241714-G-A |
c.2162G>A |
p.Gly721Asp |
Missense |
18/28 |
- |
3 |
7-55241716-G-A |
c.2164G>A |
p.Ala722Thr |
Missense |
18/28 |
- |
1 |
7-55241717-C-T |
c.2165C>T |
p.Ala722Val |
Missense |
18/28 |
- |
2 |
7-55241719-T-A |
c.2167T>A |
p.Phe723Ile |
Missense |
18/28 |
- |
2 |
7-55241719-T-C |
c.2167T>C |
p.Phe723Leu |
Missense |
18/28 |
- |
2 |
7-55241721-C-G |
c.2169C>G |
p.Phe723Leu |
Missense |
18/28 |
- |
2 |
7-55241721-C-A |
c.2169C>A |
p.Phe723Leu |
Missense |
18/28 |
- |
2 |
7-55241720-T-G |
c.2168T>G |
p.Phe723Cys |
Missense |
18/28 |
- |
1 |
7-55241722-G-A |
c.2170G>A |
p.Gly724Ser |
Missense |
18/28 |
- |
40 |
7-55241723-G-C |
c.2171G>C |
p.Gly724Ala |
Missense |
18/28 |
- |
1 |
7-55241723-G-A |
c.2171G>A |
p.Gly724Asp |
Missense |
18/28 |
- |
1 |
7-55241726-C-T |
c.2174C>T |
p.Thr725Met |
Missense |
18/28 |
- |
3 |
7-55241726-C-G |
c.2174C>G |
p.Thr725Arg |
Missense |
18/28 |
- |
1 |
7-55241727-G-A |
c.2175G>A |
p.Thr725Thr |
Synonymous |
18/28 |
- |
4 |
7-55241727-G-C |
c.2175G>C |
p.Thr725Thr |
Synonymous |
18/28 |
- |
4 |
7-55241727-G-T |
c.2175G>T |
p.Thr725Thr |
Synonymous |
18/28 |
- |
5 |
7-55241728-GTG-TTT |
c.2176_2178delinsTTT |
p.Val726Phe |
Missense |
18/28 |
- |
1 |
7-55241728-GT-AC |
c.2176_2177inv |
p.Val726Thr |
Missense |
18/28 |
- |
1 |
7-55241728-G-A |
c.2176G>A |
p.Val726Met |
Missense |
18/28 |
- |
3 |
7-55241728-G-T |
c.2176G>T |
p.Val726Leu |
Missense |
18/28 |
- |
2 |
7-55241728-GT-TA |
c.2176_2177delinsTA |
p.Val726* |
Nonsense |
18/28 |
- |
1 |
7-55241729-T-C |
c.2177T>C |
p.Val726Ala |
Missense |
18/28 |
- |
1 |
7-55241731-T-C |
c.2179T>C |
p.Tyr727His |
Missense |
18/28 |
- |
3 |
7-55241732-A-G |
c.2180A>G |
p.Tyr727Cys |
Missense |
18/28 |
- |
3 |
7-55241735-A-T |
c.2183A>T |
p.Lys728Met |
Missense |
18/28 |
- |
1 |
7-55241735-A-C |
c.2183A>C |
p.Lys728Thr |
Missense |
18/28 |
- |
1 |
7-55241735-A-G |
c.2183A>G |
p.Lys728Arg |
Missense |
18/28 |
- |
2 |
7-55241755-G-A |
c.2184+19G>A |
- |
IntronicSNV |
- |
18/27 |
8 |
7-55241763-G-A |
c.2184+27G>A |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55241801-CC-C |
c.2184+65del |
- |
IntronicDeletion |
- |
18/27 |
1 |
7-55241836-C-T |
c.2184+100C>T |
- |
IntronicSNV |
- |
18/27 |
2 |
7-55242317-C-T |
c.2185-98C>T |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55242392-T-C |
c.2185-23T>C |
- |
IntronicSNV |
- |
18/27 |
1 |
7-55242415-G-A |
c.2185G>A |
p.Gly729Arg |
Missense |
19/28 |
- |
4 |
7-55242416-G-A |
c.2186G>A |
p.Gly729Glu |
Missense |
19/28 |
- |
2 |
7-55242416-G-C |
c.2186G>C |
p.Gly729Ala |
Missense |
19/28 |
- |
1 |
7-55242418-C-G |
c.2188C>G |
p.Leu730Val |
Missense |
19/28 |
- |
1 |
7-55242418-C-T |
c.2188C>T |
p.Leu730Phe |
Missense |
19/28 |
- |
3 |
7-55242418-C-A |
c.2188C>A |
p.Leu730Ile |
Missense |
19/28 |
- |
1 |
7-55242419-T-G |
c.2189T>G |
p.Leu730Arg |
Missense |
19/28 |
- |
1 |
7-55242419-T-C |
c.2189T>C |
p.Leu730Pro |
Missense |
19/28 |
- |
2 |
7-55242421-T-C |
c.2191T>C |
p.Trp731Arg |
Missense |
19/28 |
- |
4 |
7-55242421-T-A |
c.2191T>A |
p.Trp731Arg |
Missense |
19/28 |
- |
4 |
7-55242422-G-A |
c.2192G>A |
p.Trp731* |
Nonsense |
19/28 |
- |
6 |
7-55242422-G-T |
c.2192G>T |
p.Trp731Leu |
Missense |
19/28 |
- |
1 |
7-55242424-A-G |
c.2194A>G |
p.Ile732Val |
Missense |
19/28 |
- |
1 |
7-55242425-T-C |
c.2195T>C |
p.Ile732Thr |
Missense |
19/28 |
- |
1 |
7-55242427-C-A |
c.2197C>A |
p.Pro733Thr |
Missense |
19/28 |
- |
4 |
7-55242427-C-T |
c.2197C>T |
p.Pro733Ser |
Missense |
19/28 |
- |
6 |
7-55242428-C-T |
c.2198C>T |
p.Pro733Leu |
Missense |
19/28 |
- |
10 |
7-55242429-A-G |
c.2199A>G |
p.Pro733Pro |
Synonymous |
19/28 |
- |
1 |
7-55242430-GA-AG |
c.2200_2201delinsAG |
p.Glu734Arg |
Missense |
19/28 |
- |
1 |
7-55242430-G-C |
c.2200G>C |
p.Glu734Gln |
Missense |
19/28 |
- |
1 |
7-55242430-G-A |
c.2200G>A |
p.Glu734Lys |
Missense |
19/28 |
- |
1 |
7-55242431-A-C |
c.2201A>C |
p.Glu734Ala |
Missense |
19/28 |
- |
1 |
7-55242432-A-G |
c.2202A>G |
p.Glu734Glu |
Synonymous |
19/28 |
- |
1 |
7-55242433-G-A |
c.2203G>A |
p.Gly735Ser |
Missense |
19/28 |
- |
12 |
7-55242434-G-A |
c.2204G>A |
p.Gly735Asp |
Missense |
19/28 |
- |
1 |
7-55242436-G-A |
c.2206G>A |
p.Glu736Lys |
Missense |
19/28 |
- |
1 |
7-55242437-A-T |
c.2207A>T |
p.Glu736Val |
Missense |
19/28 |
- |
1 |
7-55242440-A-G |
c.2210A>G |
p.Lys737Arg |
Missense |
19/28 |
- |
2 |
7-55242442-G-T |
c.2212G>T |
p.Val738Phe |
Missense |
19/28 |
- |
1 |
7-55242442-G-C |
c.2212G>C |
p.Val738Leu |
Missense |
19/28 |
- |
1 |
7-55242443-T-G |
c.2213T>G |
p.Val738Gly |
Missense |
19/28 |
- |
1 |
7-55242443-T-A |
c.2213T>A |
p.Val738Asp |
Missense |
19/28 |
- |
1 |
7-55242448-A-T |
c.2218A>T |
p.Ile740Phe |
Missense |
19/28 |
- |
1 |
7-55242449-T-C |
c.2219T>C |
p.Ile740Thr |
Missense |
19/28 |
- |
2 |
7-55242449-T-TCATCG |
c.2219_2220insCATCG |
p.Pro741Ilefs*9 |
Frameshift |
19/28 |
- |
1 |
7-55242451-C-A |
c.2221C>A |
p.Pro741Thr |
Missense |
19/28 |
- |
2 |
7-55242451-C-T |
c.2221C>T |
p.Pro741Ser |
Missense |
19/28 |
- |
4 |
7-55242452-C-G |
c.2222C>G |
p.Pro741Arg |
Missense |
19/28 |
- |
1 |
7-55242452-C-A |
c.2222C>A |
p.Pro741His |
Missense |
19/28 |
- |
2 |
7-55242452-C-T |
c.2222C>T |
p.Pro741Leu |
Missense |
19/28 |
- |
2 |
7-55242454-GTC-TAA |
c.2224_2226delinsTAA |
p.Val742* |
Nonsense |
19/28 |
- |
1 |
7-55242454-G-A |
c.2224G>A |
p.Val742Ile |
Missense |
19/28 |
- |
8 |
7-55242454-G-T |
c.2224G>T |
p.Val742Phe |
Missense |
19/28 |
- |
1 |
7-55242455-T-C |
c.2225T>C |
p.Val742Ala |
Missense |
19/28 |
- |
11 |
7-55242456-C-T |
c.2226C>T |
p.Val742Val |
Synonymous |
19/28 |
- |
1 |
7-55242456-C-A |
c.2226C>A |
p.Val742Val |
Synonymous |
19/28 |
- |
1 |
7-55242456-C-G |
c.2226C>G |
p.Val742Val |
Synonymous |
19/28 |
- |
1 |
7-55242457-G-A |
c.2227G>A |
p.Ala743Thr |
Missense |
19/28 |
- |
3 |
7-55242457-G-T |
c.2227G>T |
p.Ala743Ser |
Missense |
19/28 |
- |
2 |
7-55242458-C-T |
c.2228C>T |
p.Ala743Val |
Missense |
19/28 |
- |
3 |
7-55242460-A-G |
c.2230A>G |
p.Ile744Val |
Missense |
19/28 |
- |
4 |
7-55242460-A-T |
c.2230A>T |
p.Ile744Phe |
Missense |
19/28 |
- |
1 |
7-55242461-T-C |
c.2231T>C |
p.Ile744Thr |
Missense |
19/28 |
- |
1 |
7-55242462-C-G |
c.2232C>G |
p.Ile744Met |
Missense |
19/28 |
- |
8 |
7-55242462-TCAAGGAAT-T |
c.2232_2239del |
p.Glu746Argfs*14 |
Frameshift |
19/28 |
- |
2 |
7-55242463-AA-GC |
c.2233_2234delinsGC |
p.Lys745Ala |
Missense |
19/28 |
- |
3 |
7-55242463-A-G |
c.2233A>G |
p.Lys745Glu |
Missense |
19/28 |
- |
1 |
7-55242463-AAGGAA-ATCCCTGTAGCAATCAAG |
c.2234_2238delinsTCCCTGTAGCAATCAAG |
p.Lys745_Glu746delinsIleProValAlaIleLys |
MultiAAMissense |
19/28 |
- |
1 |
7-55242463-CAAGGAATTAAGAGAA-C |
c.2233_2247del |
p.Lys745_Glu749del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242464-A-T |
c.2234A>T |
p.Lys745Met |
Missense |
19/28 |
- |
1 |
7-55242464-A-G |
c.2234A>G |
p.Lys745Arg |
Missense |
19/28 |
- |
9 |
7-55242464-AAGGAATTAAGAGAAGCAA-A |
c.2234_2251del |
p.Lys745_Ala750del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242464-AAGGAATTAAGAGAAG-A |
c.2234_2248del |
p.Lys745_Ala750delinsThr |
MultiAAMissense |
19/28 |
- |
2 |
7-55242465-G-GATCCCTGTAGCAATCAAG |
c.2235_2236insATCCCTGTAGCAATCAAG |
p.Ile740_Lys745dup |
InFrameInsertion |
19/28 |
- |
7 |
7-55242465-AGG-A |
c.2235_2236del |
p.Glu746Ilefs*16 |
Frameshift |
19/28 |
- |
2 |
7-55242465-G-A |
c.2235G>A |
p.Lys745Lys |
Synonymous |
19/28 |
- |
1 |
7-55242465-AGGAATTAAGAGA-A |
c.2235_2246del |
p.Glu746_Glu749del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242465-G-GACACCTGTAGCAATCAAG |
c.2235_2236insACACCTGTAGCAATCAAG |
p.Lys745_Glu746insThrProValAlaIleLys |
InFrameInsertion |
19/28 |
- |
1 |
7-55242465-AGGAATTAAGAGAAGCAAC-A |
c.2235_2252del |
p.Glu746_Thr751del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242465-AGGA-A |
c.2235_2237del |
p.Glu746del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242465-AGGAATTAAGAGAAGC-A |
c.2235_2249del |
p.Glu746_Ala750del |
InFrameDeletion |
19/28 |
- |
69 |
7-55242465-AGGAATTAAGAGAAGCAA-A |
c.2235_2251del |
p.Lys745Asnfs*12 |
Frameshift |
19/28 |
- |
2 |
7-55242466-GGAATTAAGAGAAGCAACATCTCCG-G |
c.2236_2259del |
p.Glu746_Pro753del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCA-G |
c.2236_2250del |
p.Glu746_Ala750del |
InFrameDeletion |
19/28 |
- |
117 |
7-55242466-GGAATTAAGAGAAG-G |
c.2236_2248del |
p.Glu746Glnfs*16 |
Frameshift |
19/28 |
- |
2 |
7-55242466-GGAATTAAGAGAAGCAACAT-G |
c.2236_2254del |
p.Glu746Leufs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCAACA-G |
c.2236_2253del |
p.Glu746_Thr751del |
InFrameDeletion |
19/28 |
- |
5 |
7-55242466-G-A |
c.2236G>A |
p.Glu746Lys |
Missense |
19/28 |
- |
8 |
7-55242466-G-T |
c.2236G>T |
p.Glu746* |
Nonsense |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGC-G |
c.2236_2249del |
p.Glu746Asnfs*12 |
Frameshift |
19/28 |
- |
2 |
7-55242466-GGAATTAAGAGAAGCAACATCT-G |
c.2236_2256del |
p.Glu746_Ser752del |
InFrameDeletion |
19/28 |
- |
9 |
7-55242466-GG-G |
c.2236del |
p.Glu746Asnfs*2 |
Frameshift |
19/28 |
- |
3 |
7-55242466-G-C |
c.2236G>C |
p.Glu746Gln |
Missense |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCAACATC-G |
c.2236_2255del |
p.Glu746Serfs*10 |
Frameshift |
19/28 |
- |
1 |
7-55242466-GGAATTAAGAGAAGCAAC-G |
c.2236_2252del |
p.Glu746Ilefs*11 |
Frameshift |
19/28 |
- |
1 |
7-55242467-GAATTAAGAGAAGCAACAT-G |
c.2237_2254del |
p.Glu746_Ser752delinsAla |
MultiAAMissense |
19/28 |
- |
8 |
7-55242467-GAATTAAGAGAAGCAACATC-G |
c.2237_2255del |
p.Glu746Valfs*14 |
Frameshift |
19/28 |
- |
2 |
7-55242467-GAATTAAGAGAAGCAA-G |
c.2237_2251del |
p.Glu746_Thr751delinsAla |
MultiAAMissense |
19/28 |
- |
17 |
7-55242467-A-T |
c.2237A>T |
p.Glu746Val |
Missense |
19/28 |
- |
16 |
7-55242467-A-G |
c.2237A>G |
p.Glu746Gly |
Missense |
19/28 |
- |
3 |
7-55242467-A-C |
c.2237A>C |
p.Glu746Ala |
Missense |
19/28 |
- |
4 |
7-55242467-GAATTAAGAGAAGCAACATCTC-G |
c.2237_2257del |
p.Glu746_Pro753delinsAla |
MultiAAMissense |
19/28 |
- |
2 |
7-55242467-GAATTAAGAGAAGCAACA-G |
c.2237_2253del |
p.Glu746Valfs*11 |
Frameshift |
19/28 |
- |
4 |
7-55242468-AATTAAGAGAAGCAACATCT-A |
c.2238_2256del |
p.Glu746Aspfs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242468-AATTAAGAGAAGCAACATCTCC-A |
c.2238_2258del |
p.Leu747_Pro753del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242468-AATTAAGAGAAGCAACATC-A |
c.2238_2255del |
p.Glu746_Ser752delinsAsp |
MultiAAMissense |
19/28 |
- |
3 |
7-55242468-AATTAAGAGAA-A |
c.2238_2247del |
p.Leu747Glnfs*16 |
Frameshift |
19/28 |
- |
1 |
7-55242468-AATTAAGA-A |
c.2238_2244del |
p.Leu747Lysfs*17 |
Frameshift |
19/28 |
- |
1 |
7-55242468-A-AATC |
c.2238_2239insATC |
p.Glu746_Leu747insIle |
InFrameInsertion |
19/28 |
- |
1 |
7-55242469-TT-AG |
c.2239_2240delinsAG |
p.Leu747Arg |
Missense |
19/28 |
- |
1 |
7-55242471-A-G |
c.2241A>G |
p.Leu747Leu |
Synonymous |
19/28 |
- |
2 |
7-55242469-ATTAAGAGAAGCA-A |
c.2239_2250del |
p.Leu747_Ala750del |
InFrameDeletion |
19/28 |
- |
5 |
7-55242469-ATTA-A |
c.2239_2241del |
p.Leu747del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242469-ATTAAGAGAAGCAA-A |
c.2239_2251del |
p.Leu747Hisfs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242469-T-C |
c.2239T>C |
p.Leu747Leu |
Synonymous |
19/28 |
- |
2 |
7-55242469-TT-CC |
c.2239_2240delinsCC |
p.Leu747Pro |
Missense |
19/28 |
- |
36 |
7-55242469-ATTAAGAGAA-A |
c.2239_2247del |
p.Leu747_Glu749del |
InFrameDeletion |
19/28 |
- |
20 |
7-55242469-ATTAAGAGAAG-A |
c.2239_2248del |
p.Leu747Glnfs*16 |
Frameshift |
19/28 |
- |
7 |
7-55242469-ATTAAGAGAAGCAACATCT-A |
c.2239_2256del |
p.Leu747_Ser752del |
InFrameDeletion |
19/28 |
- |
22 |
7-55242469-ATTAAGAGAAGCAACATCTCCGAAAGC-A |
c.2239_2264del |
p.Leu747Glnfs*7 |
Frameshift |
19/28 |
- |
2 |
7-55242469-T-G |
c.2239T>G |
p.Leu747Val |
Missense |
19/28 |
- |
3 |
7-55242469-ATTAAGAGAAGCAACATCTCCGAAA-A |
c.2239_2262del |
p.Leu747_Lys754del |
InFrameDeletion |
19/28 |
- |
3 |
7-55242470-T-A |
c.2240T>A |
p.Leu747* |
Nonsense |
19/28 |
- |
1 |
7-55242470-TTAAGAGAAGCAAC-T |
c.2240_2252del |
p.Leu747Tyrfs*15 |
Frameshift |
19/28 |
- |
1 |
7-55242470-TTAAGAGAAG-T |
c.2240_2248del |
p.Leu747_Ala750delinsSer |
MultiAAMissense |
19/28 |
- |
1 |
7-55242470-T-C |
c.2240T>C |
p.Leu747Ser |
Missense |
19/28 |
- |
142 |
7-55242470-T-G |
c.2240T>G |
p.Leu747* |
Nonsense |
19/28 |
- |
1 |
7-55242470-TTAAGAGAAGCAA-T |
c.2240_2251del |
p.Leu747_Thr751delinsSer |
MultiAAMissense |
19/28 |
- |
3 |
7-55242470-TTAAGAGAAGCAACAT-T |
c.2240_2254del |
p.Leu747_Thr751del |
InFrameDeletion |
19/28 |
- |
46 |
7-55242470-TTAAGAGAAGCAACATCTC-T |
c.2240_2257del |
p.Leu747_Pro753delinsSer |
MultiAAMissense |
19/28 |
- |
38 |
7-55242471-A-C |
c.2241A>C |
p.Leu747Phe |
Missense |
19/28 |
- |
3 |
7-55242471-A-T |
c.2241A>T |
p.Leu747Phe |
Missense |
19/28 |
- |
3 |
7-55242471-TAAGAGAAG-T |
c.2241_2248del |
p.Leu747Phefs*13 |
Frameshift |
19/28 |
- |
1 |
7-55242472-AGA-TGG |
c.2242_2244delinsTGG |
p.Arg748Trp |
Missense |
19/28 |
- |
1 |
7-55242472-A-G |
c.2242A>G |
p.Arg748Gly |
Missense |
19/28 |
- |
1 |
7-55242472-AG-GA |
c.2242_2243delinsGA |
p.Arg748Glu |
Missense |
19/28 |
- |
1 |
7-55242472-AAGAGAAGCAACA-A |
c.2242_2253del |
p.Arg748_Thr751del |
InFrameDeletion |
19/28 |
- |
2 |
7-55242472-AAGA-A |
c.2242_2244del |
p.Arg748del |
InFrameDeletion |
19/28 |
- |
6 |
7-55242473-AGAGAAGCAA-A |
c.2243_2251del |
p.Arg748_Ala750del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242473-G-T |
c.2243G>T |
p.Arg748Ile |
Missense |
19/28 |
- |
1 |
7-55242473-G-A |
c.2243G>A |
p.Arg748Lys |
Missense |
19/28 |
- |
3 |
7-55242472-A-C |
c.2242A>C |
p.Arg748Arg |
Synonymous |
19/28 |
- |
1 |
7-55242474-A-G |
c.2244A>G |
p.Arg748Arg |
Synonymous |
19/28 |
- |
1 |
7-55242475-AGAAGCAA-A |
c.2245_2251del |
p.Glu749Hisfs*15 |
Frameshift |
19/28 |
- |
2 |
7-55242475-GA-AT |
c.2245_2246delinsAT |
p.Glu749Ile |
Missense |
19/28 |
- |
1 |
7-55242475-G-C |
c.2245G>C |
p.Glu749Gln |
Missense |
19/28 |
- |
3 |
7-55242475-G-A |
c.2245G>A |
p.Glu749Lys |
Missense |
19/28 |
- |
4 |
7-55242475-G-T |
c.2245G>T |
p.Glu749* |
Nonsense |
19/28 |
- |
2 |
7-55242476-GAAG-G |
c.2246_2248del |
p.Glu749del |
InFrameDeletion |
19/28 |
- |
52 |
7-55242476-A-G |
c.2246A>G |
p.Glu749Gly |
Missense |
19/28 |
- |
1 |
7-55242476-A-T |
c.2246A>T |
p.Glu749Val |
Missense |
19/28 |
- |
1 |
7-55242477-AAGCAACATC-A |
c.2247_2255del |
p.Glu749_Ser752delinsAsp |
MultiAAMissense |
19/28 |
- |
1 |
7-55242478-GCA-GTACCT |
c.2249_2250delinsTACCT |
p.Ala750delinsValPro |
MultiAAMissense |
19/28 |
- |
1 |
7-55242478-GCA-CAACCT |
c.2248_2250delinsCAACCT |
p.Ala750delinsGlnPro |
MultiAAMissense |
19/28 |
- |
1 |
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAAATC-A |
c.2248_2277del |
p.Ala750_Ile759del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAA-A |
c.2248_2274del |
p.Ala750_Glu758del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242478-GCA-ATCCCT |
c.2248_2250delinsATCCCT |
p.Ala750delinsIlePro |
MultiAAMissense |
19/28 |
- |
1 |
7-55242478-G-C |
c.2248G>C |
p.Ala750Pro |
Missense |
19/28 |
- |
77 |
7-55242478-G-A |
c.2248G>A |
p.Ala750Thr |
Missense |
19/28 |
- |
1 |
7-55242478-AGCA-A |
c.2248_2250del |
p.Ala750del |
InFrameDeletion |
19/28 |
- |
260 |
7-55242478-GC-AA |
c.2248_2249delinsAA |
p.Ala750Lys |
Missense |
19/28 |
- |
1 |
7-55242479-C-T |
c.2249C>T |
p.Ala750Val |
Missense |
19/28 |
- |
1 |
7-55242479-C-A |
c.2249C>A |
p.Ala750Glu |
Missense |
19/28 |
- |
4 |
7-55242480-A-G |
c.2250A>G |
p.Ala750Ala |
Synonymous |
19/28 |
- |
1 |
7-55242480-CAA-C |
c.2250_2251del |
p.Thr751Ilefs*11 |
Frameshift |
19/28 |
- |
1 |
7-55242481-AACATCTCCGAAA-A |
c.2251_2262del |
p.Thr751_Lys754del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242481-ACA-ATCCCT |
c.2252_2253delinsTCCCT |
p.Thr751delinsIlePro |
MultiAAMissense |
19/28 |
- |
1 |
7-55242481-AC-GG |
c.2251_2252delinsGG |
p.Thr751Gly |
Missense |
19/28 |
- |
1 |
7-55242481-A-C |
c.2251A>C |
p.Thr751Pro |
Missense |
19/28 |
- |
9 |
7-55242481-A-G |
c.2251A>G |
p.Thr751Ala |
Missense |
19/28 |
- |
9 |
7-55242481-A-T |
c.2251A>T |
p.Thr751Ser |
Missense |
19/28 |
- |
3 |
7-55242481-ACA-GTAGCA |
c.2251delinsGTAG |
p.Thr751delinsValAla |
MultiAAMissense |
19/28 |
- |
1 |
7-55242481-AACA-A |
c.2251_2253del |
p.Thr751del |
InFrameDeletion |
19/28 |
- |
62 |
7-55242481-AACATCTCCGAAAGCCAACAAGGAAATC-A |
c.2251_2277del |
p.Thr751_Ile759del |
InFrameDeletion |
19/28 |
- |
4 |
7-55242482-C-G |
c.2252C>G |
p.Thr751Arg |
Missense |
19/28 |
- |
1 |
7-55242482-C-T |
c.2252C>T |
p.Thr751Ile |
Missense |
19/28 |
- |
17 |
7-55242482-CA-AC |
c.2252_2253delinsAC |
p.Thr751Asn |
Missense |
19/28 |
- |
1 |
7-55242483-CATCTCCGAAAGCCAACAAGGAAATC-C |
c.2253_2277del |
p.Pro753Metfs*5 |
Frameshift |
19/28 |
- |
1 |
7-55242483-CATCTCCGAAAGCCAACAAGGAAAT-C |
c.2253_2276del |
p.Ser752_Ile759del |
InFrameDeletion |
19/28 |
- |
9 |
7-55242483-CATCTCCGAAAGCCAACAAGGAAA-C |
c.2253_2275del |
p.Ser752Profs*3 |
Frameshift |
19/28 |
- |
1 |
7-55242484-T-C |
c.2254T>C |
p.Ser752Pro |
Missense |
19/28 |
- |
1 |
7-55242484-TC-AT |
c.2254_2255delinsAT |
p.Ser752Ile |
Missense |
19/28 |
- |
14 |
7-55242484-ATCTCCGAA-A |
c.2254_2261del |
p.Pro753Glnfs*7 |
Frameshift |
19/28 |
- |
2 |
7-55242484-TCT-ATCGTA |
c.2254_2256delinsATCGTA |
p.Ser752delinsIleVal |
MultiAAMissense |
19/28 |
- |
1 |
7-55242484-ATCT-A |
c.2254_2256del |
p.Ser752del |
InFrameDeletion |
19/28 |
- |
49 |
7-55242484-TC-GT |
c.2254_2255delinsGT |
p.Ser752Val |
Missense |
19/28 |
- |
2 |
7-55242484-TC-GA |
c.2254_2255inv |
p.Ser752Asp |
Missense |
19/28 |
- |
6 |
7-55242484-ATCTCCGAAAGCCAACAAGGAAATC-A |
c.2254_2277del |
p.Ser752_Ile759del |
InFrameDeletion |
19/28 |
- |
12 |
7-55242485-TC-T |
c.2255del |
p.Ser752Phefs*14 |
Frameshift |
19/28 |
- |
1 |
7-55242485-C-T |
c.2255C>T |
p.Ser752Phe |
Missense |
19/28 |
- |
5 |
7-55242485-C-A |
c.2255C>A |
p.Ser752Tyr |
Missense |
19/28 |
- |
3 |
7-55242486-CT-C |
c.2256del |
p.Pro753Argfs*13 |
Frameshift |
19/28 |
- |
1 |
7-55242487-CC-GA |
c.2257_2258delinsGA |
p.Pro753Glu |
Missense |
19/28 |
- |
1 |
7-55242487-TCCG-T |
c.2257_2259del |
p.Pro753del |
InFrameDeletion |
19/28 |
- |
12 |
7-55242487-C-A |
c.2257C>A |
p.Pro753Thr |
Missense |
19/28 |
- |
1 |
7-55242487-C-T |
c.2257C>T |
p.Pro753Ser |
Missense |
19/28 |
- |
40 |
7-55242487-CCG-TTT |
c.2257_2259delinsTTT |
p.Pro753Phe |
Missense |
19/28 |
- |
1 |
7-55242487-CCG-GTAAGC |
c.2257_2259delinsGTAAGC |
p.Pro753delinsValSer |
MultiAAMissense |
19/28 |
- |
1 |
7-55242488-CC-C |
c.2258del |
p.Pro753Argfs*13 |
Frameshift |
19/28 |
- |
3 |
7-55242488-C-T |
c.2258C>T |
p.Pro753Leu |
Missense |
19/28 |
- |
7 |
7-55242488-C-A |
c.2258C>A |
p.Pro753Gln |
Missense |
19/28 |
- |
3 |
7-55242489-G-A |
c.2259G>A |
p.Pro753Pro |
Synonymous |
19/28 |
- |
2 |
7-55242489-G-GT |
c.2259_2260insT |
p.Lys754* |
Nonsense |
19/28 |
- |
1 |
7-55242490-GAAA-G |
c.2260_2262del |
p.Lys754del |
InFrameDeletion |
19/28 |
- |
4 |
7-55242490-A-G |
c.2260A>G |
p.Lys754Glu |
Missense |
19/28 |
- |
9 |
7-55242490-A-C |
c.2260A>C |
p.Lys754Gln |
Missense |
19/28 |
- |
2 |
7-55242491-A-T |
c.2261A>T |
p.Lys754Ile |
Missense |
19/28 |
- |
3 |
7-55242491-A-G |
c.2261A>G |
p.Lys754Arg |
Missense |
19/28 |
- |
1 |
7-55242491-A-C |
c.2261A>C |
p.Lys754Thr |
Missense |
19/28 |
- |
1 |
7-55242492-A-G |
c.2262A>G |
p.Lys754Lys |
Synonymous |
19/28 |
- |
2 |
7-55242492-A-C |
c.2262A>C |
p.Lys754Asn |
Missense |
19/28 |
- |
2 |
7-55242492-A-T |
c.2262A>T |
p.Lys754Asn |
Missense |
19/28 |
- |
2 |
7-55242493-G-A |
c.2263G>A |
p.Ala755Thr |
Missense |
19/28 |
- |
2 |
7-55242493-GCC-AGCAAGGGT |
c.2263_2265delinsAGCAAGGGT |
p.Ala755delinsSerLysGly |
MultiAAMissense |
19/28 |
- |
1 |
7-55242494-C-G |
c.2264C>G |
p.Ala755Gly |
Missense |
19/28 |
- |
4 |
7-55242494-C-T |
c.2264C>T |
p.Ala755Val |
Missense |
19/28 |
- |
3 |
7-55242494-C-A |
c.2264C>A |
p.Ala755Asp |
Missense |
19/28 |
- |
5 |
7-55242496-A-C |
c.2266A>C |
p.Asn756His |
Missense |
19/28 |
- |
1 |
7-55242496-A-G |
c.2266A>G |
p.Asn756Asp |
Missense |
19/28 |
- |
2 |
7-55242496-A-T |
c.2266A>T |
p.Asn756Tyr |
Missense |
19/28 |
- |
1 |
7-55242497-A-G |
c.2267A>G |
p.Asn756Ser |
Missense |
19/28 |
- |
2 |
7-55242499-CAAG-C |
c.2269_2271del |
p.Lys757del |
InFrameDeletion |
19/28 |
- |
1 |
7-55242499-A-G |
c.2269A>G |
p.Lys757Glu |
Missense |
19/28 |
- |
4 |
7-55242500-A-G |
c.2270A>G |
p.Lys757Arg |
Missense |
19/28 |
- |
8 |
7-55242500-A-C |
c.2270A>C |
p.Lys757Thr |
Missense |
19/28 |
- |
1 |
7-55242500-A-T |
c.2270A>T |
p.Lys757Met |
Missense |
19/28 |
- |
2 |
7-55242501-G-T |
c.2271G>T |
p.Lys757Asn |
Missense |
19/28 |
- |
3 |
7-55242501-G-A |
c.2271G>A |
p.Lys757Lys |
Synonymous |
19/28 |
- |
1 |
7-55242502-GGAA-G |
c.2272_2274del |
p.Glu758del |
InFrameDeletion |
19/28 |
- |
4 |
7-55242502-G-A |
c.2272G>A |
p.Glu758Lys |
Missense |
19/28 |
- |
3 |
7-55242503-A-G |
c.2273A>G |
p.Glu758Gly |
Missense |
19/28 |
- |
3 |
7-55242504-A-T |
c.2274A>T |
p.Glu758Asp |
Missense |
19/28 |
- |
1 |
7-55242504-A-G |
c.2274A>G |
p.Glu758Glu |
Synonymous |
19/28 |
- |
1 |
7-55242504-A-C |
c.2274A>C |
p.Glu758Asp |
Missense |
19/28 |
- |
1 |
7-55242505-ATC-GGTGAGGGT |
c.2275_2277delinsGGTGAGGGT |
p.Ile759delinsGlyGluGly |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-AATC-A |
c.2275_2277del |
p.Ile759del |
InFrameDeletion |
19/28 |
- |
21 |
7-55242505-AT-GC |
c.2275_2276delinsGC |
p.Ile759Ala |
Missense |
19/28 |
- |
2 |
7-55242505-ATC-GCAACAGCA |
c.2275_2277delinsGCAACAGCA |
p.Ile759delinsAlaThrAla |
MultiAAMissense |
19/28 |
- |
1 |
7-55242505-A-G |
c.2275A>G |
p.Ile759Val |
Missense |
19/28 |
- |
1 |
7-55242506-T-C |
c.2276T>C |
p.Ile759Thr |
Missense |
19/28 |
- |
1 |
7-55242507-C-T |
c.2277C>T |
p.Ile759Ile |
Synonymous |
19/28 |
- |
1 |
7-55242507-C-A |
c.2277C>A |
p.Ile759Ile |
Synonymous |
19/28 |
- |
1 |
7-55242507-C-G |
c.2277C>G |
p.Ile759Met |
Missense |
19/28 |
- |
2 |
7-55242508-C-T |
c.2278C>T |
p.Leu760Phe |
Missense |
19/28 |
- |
1 |
7-55242509-T-C |
c.2279T>C |
p.Leu760Pro |
Missense |
19/28 |
- |
3 |
7-55242509-T-G |
c.2279T>G |
p.Leu760Arg |
Missense |
19/28 |
- |
3 |
7-55242510-C-A |
c.2280C>A |
p.Leu760Leu |
Synonymous |
19/28 |
- |
1 |
7-55242510-C-T |
c.2280C>T |
p.Leu760Leu |
Synonymous |
19/28 |
- |
1 |
7-55242510-C-G |
c.2280C>G |
p.Leu760Leu |
Synonymous |
19/28 |
- |
1 |
7-55242511-G-C |
c.2281G>C |
p.Asp761His |
Missense |
19/28 |
- |
2 |
7-55242511-G-A |
c.2281G>A |
p.Asp761Asn |
Missense |
19/28 |
- |
13 |
7-55242511-G-T |
c.2281G>T |
p.Asp761Tyr |
Missense |
19/28 |
- |
169 |
7-55242511-GAT-CAA |
c.2281_2283delinsCAA |
p.Asp761Gln |
Missense |
19/28 |
- |
1 |
7-55242514-G-A |
c.2283+1G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55242582-G-A |
c.2283+69G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55242609-A-G |
c.2283+96A>G |
- |
IntronicSNV |
- |
19/27 |
6 |
7-55242616-C-T |
c.2283+103C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55243754-A-G |
c.2283+1241A>G |
- |
IntronicSNV |
- |
19/27 |
3 |
7-55245364-G-C |
c.2283+2851G>C |
- |
IntronicSNV |
- |
19/27 |
5 |
7-55245507-A-G |
c.2283+2994A>G |
- |
IntronicSNV |
- |
19/27 |
8 |
7-55245647-T-C |
c.2283+3134T>C |
- |
IntronicSNV |
- |
19/27 |
4 |
7-55245717-G-A |
c.2283+3204G>A |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55245717-G-C |
c.2283+3204G>C |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55247334-C-T |
c.2284-1652C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55247334-C-G |
c.2284-1652C>G |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55247442-A-T |
c.2284-1544A>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55247588-G-A |
c.2284-1398G>A |
- |
IntronicSNV |
- |
19/27 |
3 |
7-55247610-C-T |
c.2284-1376C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55248926-T-C |
c.2284-60T>C |
- |
IntronicSNV |
- |
19/27 |
6 |
7-55248965-C-T |
c.2284-21C>T |
- |
IntronicSNV |
- |
19/27 |
1 |
7-55248986-G-A |
c.2284G>A |
p.Glu762Lys |
Missense |
20/28 |
- |
3 |
7-55248987-A-G |
c.2285A>G |
p.Glu762Gly |
Missense |
20/28 |
- |
3 |
7-55248988-A-G |
c.2286A>G |
p.Glu762Glu |
Synonymous |
20/28 |
- |
1 |
7-55248989-G-A |
c.2287G>A |
p.Ala763Thr |
Missense |
20/28 |
- |
2 |
7-55248990-C-T |
c.2288C>T |
p.Ala763Val |
Missense |
20/28 |
- |
2 |
7-55248991-C-T |
c.2289C>T |
p.Ala763Ala |
Synonymous |
20/28 |
- |
1 |
7-55248992-T-G |
c.2290T>G |
p.Tyr764Asp |
Missense |
20/28 |
- |
1 |
7-55248992-T-TTTCAAGAGGCAT |
c.2290_2291insTTCAAGAGGCAT |
p.Ala763_Tyr764insPheGlnGluAla |
InFrameInsertion |
20/28 |
- |
3 |
7-55248994-C-T |
c.2292C>T |
p.Tyr764Tyr |
Synonymous |
20/28 |
- |
1 |
7-55248995-G-C |
c.2293G>C |
p.Val765Leu |
Missense |
20/28 |
- |
1 |
7-55248995-G-T |
c.2293G>T |
p.Val765Leu |
Missense |
20/28 |
- |
1 |
7-55248995-G-A |
c.2293G>A |
p.Val765Met |
Missense |
20/28 |
- |
6 |
7-55248996-T-G |
c.2294T>G |
p.Val765Gly |
Missense |
20/28 |
- |
2 |
7-55248996-T-C |
c.2294T>C |
p.Val765Ala |
Missense |
20/28 |
- |
15 |
7-55248998-A-G |
c.2296A>G |
p.Met766Val |
Missense |
20/28 |
- |
1 |
7-55248998-ATG-TTT |
c.2296_2298delinsTTT |
p.Met766Phe |
Missense |
20/28 |
- |
3 |
7-55248998-A-C |
c.2296A>C |
p.Met766Leu |
Missense |
20/28 |
- |
1 |
7-55248998-A-T |
c.2296A>T |
p.Met766Leu |
Missense |
20/28 |
- |
1 |
7-55248998-AT-GC |
c.2296_2297delinsGC |
p.Met766Ala |
Missense |
20/28 |
- |
1 |
7-55248999-T-C |
c.2297T>C |
p.Met766Thr |
Missense |
20/28 |
- |
5 |
7-55249000-G-T |
c.2298G>T |
p.Met766Ile |
Missense |
20/28 |
- |
1 |
7-55249000-G-C |
c.2298G>C |
p.Met766Ile |
Missense |
20/28 |
- |
1 |
7-55249000-G-A |
c.2298G>A |
p.Met766Ile |
Missense |
20/28 |
- |
1 |
7-55249001-GGCC-G |
c.2299_2301del |
p.Ala767del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249001-G-T |
c.2299G>T |
p.Ala767Ser |
Missense |
20/28 |
- |
1 |
7-55249001-G-A |
c.2299G>A |
p.Ala767Thr |
Missense |
20/28 |
- |
3 |
7-55249002-GCCAGCGTGG-G |
c.2300_2308del |
p.Ala767_Val769del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249002-C-T |
c.2300C>T |
p.Ala767Val |
Missense |
20/28 |
- |
6 |
7-55249003-C-G |
c.2301C>G |
p.Ala767Ala |
Synonymous |
20/28 |
- |
1 |
7-55249003-C-T |
c.2301C>T |
p.Ala767Ala |
Synonymous |
20/28 |
- |
1 |
7-55249003-C-A |
c.2301C>A |
p.Ala767Ala |
Synonymous |
20/28 |
- |
1 |
7-55249004-AGCGTG-ATCCTT |
c.2303_2307delinsTCCTT |
p.Ser768_Val769delinsIleLeu |
MultiAAMissense |
20/28 |
- |
1 |
7-55249004-AGC-GAG |
c.2302_2304delinsGAG |
p.Ser768Glu |
Missense |
20/28 |
- |
1 |
7-55249004-A-ACACTTGCAA |
c.2302_2303insCACTTGCAA |
p.Ala767_Ser768insThrLeuAla |
InFrameInsertion |
20/28 |
- |
1 |
7-55249004-AG-TT |
c.2302_2303delinsTT |
p.Ser768Phe |
Missense |
20/28 |
- |
1 |
7-55249004-AG-GT |
c.2302_2303delinsGT |
p.Ser768Val |
Missense |
20/28 |
- |
1 |
7-55249004-AG-GA |
c.2302_2303delinsGA |
p.Ser768Asp |
Missense |
20/28 |
- |
1 |
7-55249004-A-T |
c.2302A>T |
p.Ser768Cys |
Missense |
20/28 |
- |
4 |
7-55249004-AG-GC |
c.2302_2303delinsGC |
p.Ser768Ala |
Missense |
20/28 |
- |
1 |
7-55249004-AG-CT |
c.2302_2303inv |
p.Ser768Leu |
Missense |
20/28 |
- |
3 |
7-55249004-A-G |
c.2302A>G |
p.Ser768Gly |
Missense |
20/28 |
- |
2 |
7-55249004-AGC-TGA |
c.2302_2304delinsTGA |
p.Ser768* |
Nonsense |
20/28 |
- |
3 |
7-55249004-AGC-ATCCTT |
c.2303_2304delinsTCCTT |
p.Ser768delinsIleLeu |
MultiAAMissense |
20/28 |
- |
1 |
7-55249005-G-A |
c.2303G>A |
p.Ser768Asn |
Missense |
20/28 |
- |
7 |
7-55249005-G-T |
c.2303G>T |
p.Ser768Ile |
Missense |
20/28 |
- |
526 |
7-55249005-GC-TT |
c.2303_2304delinsTT |
p.Ser768Ile |
Missense |
20/28 |
- |
1 |
7-55249006-C-CTTGGCCAGC |
c.2304_2305insTTGGCCAGC |
p.Ser768_Val769insLeuAlaSer |
InFrameInsertion |
20/28 |
- |
1 |
7-55249006-C-A |
c.2304C>A |
p.Ser768Arg |
Missense |
20/28 |
- |
5 |
7-55249006-C-G |
c.2304C>G |
p.Ser768Arg |
Missense |
20/28 |
- |
5 |
7-55249004-A-C |
c.2302A>C |
p.Ser768Arg |
Missense |
20/28 |
- |
5 |
7-55249007-G-A |
c.2305G>A |
p.Val769Met |
Missense |
20/28 |
- |
17 |
7-55249007-G-C |
c.2305G>C |
p.Val769Leu |
Missense |
20/28 |
- |
26 |
7-55249007-G-T |
c.2305G>T |
p.Val769Leu |
Missense |
20/28 |
- |
26 |
7-55249007-GTG-ATC |
c.2305_2307delinsATC |
p.Val769Ile |
Missense |
20/28 |
- |
1 |
7-55249008-T-C |
c.2306T>C |
p.Val769Ala |
Missense |
20/28 |
- |
1 |
7-55249009-G-A |
c.2307G>A |
p.Val769Val |
Synonymous |
20/28 |
- |
1 |
7-55249009-G-C |
c.2307G>C |
p.Val769Val |
Synonymous |
20/28 |
- |
1 |
7-55249009-G-T |
c.2307G>T |
p.Val769Val |
Synonymous |
20/28 |
- |
1 |
7-55249009-G-GTGT |
c.2307_2308insTGT |
p.Val769_Asp770insCys |
InFrameInsertion |
20/28 |
- |
1 |
7-55249009-G-GT |
c.2307_2308insT |
p.Asp770* |
Nonsense |
20/28 |
- |
1 |
7-55249010-GAC-GGTATC |
c.2309delinsGTAT |
p.Asp770delinsGlyIle |
MultiAAMissense |
20/28 |
- |
2 |
7-55249010-G-GTAG |
c.2308_2309insTAG |
p.Val769dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-G-GGTCAAAGGG |
c.2308_2309insGTCAAAGGG |
p.Val769_Asp770insGlyGlnArg |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-G-T |
c.2308G>T |
p.Asp770Tyr |
Missense |
20/28 |
- |
1 |
7-55249010-G-GGCACGG |
c.2308_2309insGCACGG |
p.Val769_Asp770insGlyThr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-GAC-GTAGGT |
c.2309_2310delinsTAGGT |
p.Asp770delinsValGly |
MultiAAMissense |
20/28 |
- |
1 |
7-55249010-G-GTAGGTGTAG |
c.2308_2309insTAGGTGTAG |
p.Val769_Asp770insValGlyVal |
InFrameInsertion |
20/28 |
- |
1 |
7-55249010-G-A |
c.2308G>A |
p.Asp770Asn |
Missense |
20/28 |
- |
4 |
7-55249010-GAC-GGTTAT |
c.2309_2310delinsGTTAT |
p.Asp770delinsGlyTyr |
MultiAAMissense |
20/28 |
- |
9 |
7-55249011-AC-CCAGCGTGGAT |
c.2309_2310delinsCCAGCGTGGAT |
p.Ala767_Val769dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249011-A-G |
c.2309A>G |
p.Asp770Gly |
Missense |
20/28 |
- |
3 |
7-55249011-A-C |
c.2309A>C |
p.Asp770Ala |
Missense |
20/28 |
- |
2 |
7-55249012-C-CCAGCGTGGC |
c.2310_2311insCAGCGTGGC |
p.Asp770_Asn771insGlnArgGly |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGCATGGACA |
c.2310_2311insGCATGGACA |
p.Asp770_Asn771insAlaTrpThr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGG |
c.2310_2311insGGG |
p.Asp770_Asn771insGly |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGTAGCGTAGAC |
c.2310_2311insGGTAGCGTAGAC |
p.Asp770_Asn771insGlySerValAsp |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGTGAC |
c.2310_2311insGGTGAC |
p.Asp770_Asn771insGlyAsp |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CCAC |
c.2310_2311insCAC |
p.Asp770_Asn771insHis |
InFrameInsertion |
20/28 |
- |
1 |
7-55249012-C-CGGGC |
c.2310_2311insGGGC |
p.Asn771Glyfs*127 |
Frameshift |
20/28 |
- |
1 |
7-55249012-C-CGGT |
c.2310_2311insGGT |
p.Asp770_Asn771insGly |
InFrameInsertion |
20/28 |
- |
13 |
7-55249012-C-CTAT |
c.2310_2311insTAT |
p.Asp770_Asn771insTyr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249013-CAAC-C |
c.2311_2313del |
p.Asn771del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249013-AAC-ACACAT |
c.2312_2313delinsCACAT |
p.Asn771delinsThrHis |
MultiAAMissense |
20/28 |
- |
2 |
7-55249013-AAC-TTTCAT |
c.2311_2313delinsTTTCAT |
p.Asn771delinsPheHis |
MultiAAMissense |
20/28 |
- |
2 |
7-55249013-AAC-GGTTAT |
c.2311_2313delinsGGTTAT |
p.Asn771delinsGlyTyr |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-AAC-GGTTTT |
c.2311_2313delinsGGTTTT |
p.Asn771delinsGlyPhe |
MultiAAMissense |
20/28 |
- |
1 |
7-55249013-A-AGCGTAGACA |
c.2311_2312insGCGTAGACA |
p.Ser768_Asp770dup |
InFrameInsertion |
20/28 |
- |
2 |
7-55249013-A-ACCA |
c.2311_2312insCCA |
p.Asp770_Asn771insThr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249013-A-C |
c.2311A>C |
p.Asn771His |
Missense |
20/28 |
- |
1 |
7-55249013-AA-TT |
c.2311_2312inv |
p.Asn771Phe |
Missense |
20/28 |
- |
1 |
7-55249013-A-G |
c.2311A>G |
p.Asn771Asp |
Missense |
20/28 |
- |
1 |
7-55249014-A-C |
c.2312A>C |
p.Asn771Thr |
Missense |
20/28 |
- |
9 |
7-55249014-A-G |
c.2312A>G |
p.Asn771Ser |
Missense |
20/28 |
- |
2 |
7-55249015-C-T |
c.2313C>T |
p.Asn771Asn |
Synonymous |
20/28 |
- |
1 |
7-55249015-C-CGGTTAT |
c.2313_2314insGGTTAT |
p.Asn771_Pro772insGlyTyr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249015-C-CACG |
c.2313_2314insACG |
p.Asn771_Pro772insThr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249016-C-T |
c.2314C>T |
p.Pro772Ser |
Missense |
20/28 |
- |
2 |
7-55249016-C-CACA |
c.2314_2315insACA |
p.Pro772delinsHisThr |
MultiAAMissense |
20/28 |
- |
1 |
7-55249016-C-CATAACC |
c.2314_2315insATAACC |
p.Asn771_Pro772insHisAsn |
InFrameInsertion |
20/28 |
- |
1 |
7-55249016-C-CTTC |
c.2314_2315insTTC |
p.Asn771_Pro772insLeu |
InFrameInsertion |
20/28 |
- |
1 |
7-55249017-CCCC-C |
c.2315_2317del |
p.Pro772del |
InFrameDeletion |
20/28 |
- |
3 |
7-55249017-C-CTCATAACCC |
c.2315_2316insTCATAACCC |
p.Asn771_His773dup |
InFrameInsertion |
20/28 |
- |
2 |
7-55249017-C-G |
c.2315C>G |
p.Pro772Arg |
Missense |
20/28 |
- |
1 |
7-55249017-C-A |
c.2315C>A |
p.Pro772His |
Missense |
20/28 |
- |
3 |
7-55249017-C-CTGGTAACCC |
c.2315_2316insTGGTAACCC |
p.Pro772_His773insGlyAsnPro |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CACAACACCT |
c.2316_2317insACAACACCT |
p.Pro772_His773insThrThrPro |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CGGTAACCCT |
c.2316_2317insGGTAACCCT |
p.Pro772_His773insGlyAsnPro |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CAAC |
c.2316_2317insAAC |
p.Pro772_His773insAsn |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CTATAACCCT |
c.2316_2317insTATAACCCT |
p.Pro772_His773insTyrAsnPro |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CAACCCT |
c.2316_2317insAACCCT |
p.Asn771_Pro772dup |
InFrameInsertion |
20/28 |
- |
1 |
7-55249018-C-CGTA |
c.2316_2317insGTA |
p.Pro772_His773insVal |
InFrameInsertion |
20/28 |
- |
1 |
7-55249019-CACGTG-AGGATG |
c.2317_2320delinsAGGA |
p.His773_Val774delinsArgMet |
MultiAAMissense |
20/28 |
- |
1 |
7-55249019-CA-GC |
c.2317_2318delinsGC |
p.His773Ala |
Missense |
20/28 |
- |
1 |
7-55249019-CA-GG |
c.2317_2318delinsGG |
p.His773Gly |
Missense |
20/28 |
- |
1 |
7-55249019-CA-GT |
c.2317_2318delinsGT |
p.His773Val |
Missense |
20/28 |
- |
1 |
7-55249019-C-T |
c.2317C>T |
p.His773Tyr |
Missense |
20/28 |
- |
7 |
7-55249020-A-G |
c.2318A>G |
p.His773Arg |
Missense |
20/28 |
- |
8 |
7-55249020-A-T |
c.2318A>T |
p.His773Leu |
Missense |
20/28 |
- |
11 |
7-55249020-A-AACC |
c.2318_2319insACC |
p.His773delinsGlnPro |
MultiAAMissense |
20/28 |
- |
1 |
7-55249020-A-ATAACCA |
c.2318_2319insTAACCA |
p.His773_Val774insAsnHis |
InFrameInsertion |
20/28 |
- |
1 |
7-55249021-C-CCAT |
c.2319_2320insCAT |
p.His773dup |
InFrameInsertion |
20/28 |
- |
5 |
7-55249021-C-CCCTCAT |
c.2319_2320insCCTCAT |
p.Pro772_His773dup |
InFrameInsertion |
20/28 |
- |
2 |
7-55249021-C-CAACCCTCAT |
c.2319_2320insAACCCTCAT |
p.Asn771_His773dup |
InFrameInsertion |
20/28 |
- |
4 |
7-55249021-C-CTATAACCCTTAT |
c.2319_2320insTATAACCCTTAT |
p.His773_Val774insTyrAsnProTyr |
InFrameInsertion |
20/28 |
- |
1 |
7-55249021-C-T |
c.2319C>T |
p.His773His |
Synonymous |
20/28 |
- |
1 |
7-55249022-G-T |
c.2320G>T |
p.Val774Leu |
Missense |
20/28 |
- |
1 |
7-55249022-G-C |
c.2320G>C |
p.Val774Leu |
Missense |
20/28 |
- |
1 |
7-55249022-G-A |
c.2320G>A |
p.Val774Met |
Missense |
20/28 |
- |
18 |
7-55249022-G-GCACATG |
c.2320_2321insCACATG |
p.His773_Val774insAlaHis |
InFrameInsertion |
20/28 |
- |
3 |
7-55249023-T-C |
c.2321T>C |
p.Val774Ala |
Missense |
20/28 |
- |
2 |
7-55249024-G-C |
c.2322G>C |
p.Val774Val |
Synonymous |
20/28 |
- |
1 |
7-55249024-G-GCCACGT |
c.2322_2323insCCACGT |
p.Val774_Cys775insProArg |
InFrameInsertion |
20/28 |
- |
1 |
7-55249024-G-GCATGTA |
c.2322_2323insCATGTA |
p.His773_Val774dup |
InFrameInsertion |
20/28 |
- |
2 |
7-55249025-T-C |
c.2323T>C |
p.Cys775Arg |
Missense |
20/28 |
- |
1 |
7-55249026-G-A |
c.2324G>A |
p.Cys775Tyr |
Missense |
20/28 |
- |
6 |
7-55249026-G-T |
c.2324G>T |
p.Cys775Phe |
Missense |
20/28 |
- |
1 |
7-55249027-C-CTCCGTGATGGCT |
c.2325_2326insTCCGTGATGGCT |
p.Cys775_Arg776insSerValMetAla |
InFrameInsertion |
20/28 |
- |
1 |
7-55249028-C-T |
c.2326C>T |
p.Arg776Cys |
Missense |
20/28 |
- |
22 |
7-55249028-CG-GC |
c.2326_2327delinsGC |
p.Arg776Ala |
Missense |
20/28 |
- |
1 |
7-55249028-CGC-TGA |
c.2326_2328delinsTGA |
p.Arg776* |
Nonsense |
20/28 |
- |
1 |
7-55249028-C-CCTGCAC |
c.2326_2327insCTGCAC |
p.Cys775_Arg776insProAla |
InFrameInsertion |
20/28 |
- |
1 |
7-55249028-C-G |
c.2326C>G |
p.Arg776Gly |
Missense |
20/28 |
- |
7 |
7-55249028-C-A |
c.2326C>A |
p.Arg776Ser |
Missense |
20/28 |
- |
7 |
7-55249029-G-A |
c.2327G>A |
p.Arg776His |
Missense |
20/28 |
- |
52 |
7-55249029-G-T |
c.2327G>T |
p.Arg776Leu |
Missense |
20/28 |
- |
3 |
7-55249031-C-A |
c.2329C>A |
p.Leu777Met |
Missense |
20/28 |
- |
2 |
7-55249031-CTG-TTT |
c.2329_2331delinsTTT |
p.Leu777Phe |
Missense |
20/28 |
- |
2 |
7-55249031-CTG-TGT |
c.2329_2331delinsTGT |
p.Leu777Cys |
Missense |
20/28 |
- |
1 |
7-55249031-CT-GG |
c.2329_2330delinsGG |
p.Leu777Gly |
Missense |
20/28 |
- |
1 |
7-55249032-T-C |
c.2330T>C |
p.Leu777Pro |
Missense |
20/28 |
- |
3 |
7-55249032-T-A |
c.2330T>A |
p.Leu777Gln |
Missense |
20/28 |
- |
2 |
7-55249033-G-A |
c.2331G>A |
p.Leu777Leu |
Synonymous |
20/28 |
- |
1 |
7-55249035-T-A |
c.2333T>A |
p.Leu778Gln |
Missense |
20/28 |
- |
1 |
7-55249035-T-C |
c.2333T>C |
p.Leu778Pro |
Missense |
20/28 |
- |
1 |
7-55249037-G-T |
c.2335G>T |
p.Gly779Cys |
Missense |
20/28 |
- |
8 |
7-55249037-GG-TT |
c.2335_2336delinsTT |
p.Gly779Phe |
Missense |
20/28 |
- |
5 |
7-55249037-G-A |
c.2335G>A |
p.Gly779Ser |
Missense |
20/28 |
- |
4 |
7-55249038-G-T |
c.2336G>T |
p.Gly779Val |
Missense |
20/28 |
- |
2 |
7-55249038-G-A |
c.2336G>A |
p.Gly779Asp |
Missense |
20/28 |
- |
2 |
7-55249041-T-C |
c.2339T>C |
p.Ile780Thr |
Missense |
20/28 |
- |
1 |
7-55249041-T-G |
c.2339T>G |
p.Ile780Ser |
Missense |
20/28 |
- |
2 |
7-55249043-T-A |
c.2341T>A |
p.Cys781Ser |
Missense |
20/28 |
- |
1 |
7-55249044-G-A |
c.2342G>A |
p.Cys781Tyr |
Missense |
20/28 |
- |
2 |
7-55249044-G-T |
c.2342G>T |
p.Cys781Phe |
Missense |
20/28 |
- |
2 |
7-55249048-C-T |
c.2346C>T |
p.Leu782Leu |
Synonymous |
20/28 |
- |
1 |
7-55249049-A-G |
c.2347A>G |
p.Thr783Ala |
Missense |
20/28 |
- |
14 |
7-55249050-C-T |
c.2348C>T |
p.Thr783Ile |
Missense |
20/28 |
- |
4 |
7-55249051-C-A |
c.2349C>A |
p.Thr783Thr |
Synonymous |
20/28 |
- |
1 |
7-55249051-C-G |
c.2349C>G |
p.Thr783Thr |
Synonymous |
20/28 |
- |
1 |
7-55249051-C-T |
c.2349C>T |
p.Thr783Thr |
Synonymous |
20/28 |
- |
1 |
7-55249052-T-A |
c.2350T>A |
p.Ser784Thr |
Missense |
20/28 |
- |
1 |
7-55249052-T-C |
c.2350T>C |
p.Ser784Pro |
Missense |
20/28 |
- |
5 |
7-55249053-C-A |
c.2351C>A |
p.Ser784Tyr |
Missense |
20/28 |
- |
2 |
7-55249053-C-T |
c.2351C>T |
p.Ser784Phe |
Missense |
20/28 |
- |
5 |
7-55249055-A-G |
c.2353A>G |
p.Thr785Ala |
Missense |
20/28 |
- |
1 |
7-55249056-C-T |
c.2354C>T |
p.Thr785Ile |
Missense |
20/28 |
- |
6 |
7-55249057-C-T |
c.2355C>T |
p.Thr785Thr |
Synonymous |
20/28 |
- |
3 |
7-55249057-C-A |
c.2355C>A |
p.Thr785Thr |
Synonymous |
20/28 |
- |
3 |
7-55249057-C-G |
c.2355C>G |
p.Thr785Thr |
Synonymous |
20/28 |
- |
3 |
7-55249058-G-A |
c.2356G>A |
p.Val786Met |
Missense |
20/28 |
- |
8 |
7-55249058-G-C |
c.2356G>C |
p.Val786Leu |
Missense |
20/28 |
- |
1 |
7-55249058-G-T |
c.2356G>T |
p.Val786Leu |
Missense |
20/28 |
- |
1 |
7-55249059-T-C |
c.2357T>C |
p.Val786Ala |
Missense |
20/28 |
- |
1 |
7-55249061-C-A |
c.2359C>A |
p.Gln787Lys |
Missense |
20/28 |
- |
1 |
7-55249062-A-G |
c.2360A>G |
p.Gln787Arg |
Missense |
20/28 |
- |
3 |
7-55249062-A-T |
c.2360A>T |
p.Gln787Leu |
Missense |
20/28 |
- |
1 |
7-55249063-G-T |
c.2361G>T |
p.Gln787His |
Missense |
20/28 |
- |
1 |
7-55249063-G-C |
c.2361G>C |
p.Gln787His |
Missense |
20/28 |
- |
20 |
7-55249063-G-A |
c.2361G>A |
p.Gln787Gln |
Synonymous |
20/28 |
- |
94 |
7-55249064-C-T |
c.2362C>T |
p.Leu788Phe |
Missense |
20/28 |
- |
3 |
7-55249065-T-A |
c.2363T>A |
p.Leu788His |
Missense |
20/28 |
- |
1 |
7-55249065-TC-AA |
c.2363_2364delinsAA |
p.Leu788Gln |
Missense |
20/28 |
- |
1 |
7-55249067-A-T |
c.2365A>T |
p.Ile789Phe |
Missense |
20/28 |
- |
1 |
7-55249069-C-G |
c.2367C>G |
p.Ile789Met |
Missense |
20/28 |
- |
2 |
7-55249069-C-T |
c.2367C>T |
p.Ile789Ile |
Synonymous |
20/28 |
- |
1 |
7-55249070-AC-TG |
c.2368_2369delinsTG |
p.Thr790Trp |
Missense |
20/28 |
- |
1 |
7-55249070-A-G |
c.2368A>G |
p.Thr790Ala |
Missense |
20/28 |
- |
2 |
7-55249071-CG-TC |
c.2369_2370delinsTC |
p.Thr790Ile |
Missense |
20/28 |
- |
2 |
7-55249071-C-G |
c.2369C>G |
p.Thr790Arg |
Missense |
20/28 |
- |
1 |
7-55249071-C-T |
c.2369C>T |
p.Thr790Met |
Missense |
20/28 |
- |
4657 |
7-55249072-G-C |
c.2370G>C |
p.Thr790Thr |
Synonymous |
20/28 |
- |
3 |
7-55249072-G-T |
c.2370G>T |
p.Thr790Thr |
Synonymous |
20/28 |
- |
3 |
7-55249072-G-A |
c.2370G>A |
p.Thr790Thr |
Synonymous |
20/28 |
- |
3 |
7-55249072-G-GAG |
c.2370_2371insAG |
p.Gln791Serfs*36 |
Frameshift |
20/28 |
- |
1 |
7-55249074-A-G |
c.2372A>G |
p.Gln791Arg |
Missense |
20/28 |
- |
3 |
7-55249074-A-C |
c.2372A>C |
p.Gln791Pro |
Missense |
20/28 |
- |
1 |
7-55249074-A-T |
c.2372A>T |
p.Gln791Leu |
Missense |
20/28 |
- |
1 |
7-55249075-AG-A |
c.2373del |
p.Gln791Hisfs*35 |
Frameshift |
20/28 |
- |
1 |
7-55249075-G-T |
c.2373G>T |
p.Gln791His |
Missense |
20/28 |
- |
2 |
7-55249075-G-C |
c.2373G>C |
p.Gln791His |
Missense |
20/28 |
- |
2 |
7-55249076-GCTC-G |
c.2374_2376del |
p.Leu792del |
InFrameDeletion |
20/28 |
- |
1 |
7-55249076-C-G |
c.2374C>G |
p.Leu792Val |
Missense |
20/28 |
- |
2 |
7-55249076-C-T |
c.2374C>T |
p.Leu792Phe |
Missense |
20/28 |
- |
26 |
7-55249076-CTC-TAA |
c.2374_2376delinsTAA |
p.Leu792* |
Nonsense |
20/28 |
- |
3 |
7-55249077-T-A |
c.2375T>A |
p.Leu792His |
Missense |
20/28 |
- |
8 |
7-55249077-T-G |
c.2375T>G |
p.Leu792Arg |
Missense |
20/28 |
- |
1 |
7-55249077-T-C |
c.2375T>C |
p.Leu792Pro |
Missense |
20/28 |
- |
4 |
7-55249079-A-T |
c.2377A>T |
p.Met793Leu |
Missense |
20/28 |
- |
2 |
7-55249079-A-C |
c.2377A>C |
p.Met793Leu |
Missense |
20/28 |
- |
2 |
7-55249080-T-A |
c.2378T>A |
p.Met793Lys |
Missense |
20/28 |
- |
1 |
7-55249081-G-T |
c.2379G>T |
p.Met793Ile |
Missense |
20/28 |
- |
3 |
7-55249082-C-T |
c.2380C>T |
p.Pro794Ser |
Missense |
20/28 |
- |
1 |
7-55249083-C-A |
c.2381C>A |
p.Pro794His |
Missense |
20/28 |
- |
1 |
7-55249083-C-T |
c.2381C>T |
p.Pro794Leu |
Missense |
20/28 |
- |
2 |
7-55249085-T-G |
c.2383T>G |
p.Phe795Val |
Missense |
20/28 |
- |
1 |
7-55249085-T-C |
c.2383T>C |
p.Phe795Leu |
Missense |
20/28 |
- |
1 |
7-55249087-C-A |
c.2385C>A |
p.Phe795Leu |
Missense |
20/28 |
- |
1 |
7-55249087-C-G |
c.2385C>G |
p.Phe795Leu |
Missense |
20/28 |
- |
1 |
7-55249086-T-C |
c.2384T>C |
p.Phe795Ser |
Missense |
20/28 |
- |
2 |
7-55249086-T-G |
c.2384T>G |
p.Phe795Cys |
Missense |
20/28 |
- |
2 |
7-55249087-C-T |
c.2385C>T |
p.Phe795Phe |
Synonymous |
20/28 |
- |
3 |
7-55249088-G-C |
c.2386G>C |
p.Gly796Arg |
Missense |
20/28 |
- |
8 |
7-55249088-GGC-TGA |
c.2386_2388delinsTGA |
p.Gly796* |
Nonsense |
20/28 |
- |
2 |
7-55249088-G-A |
c.2386G>A |
p.Gly796Ser |
Missense |
20/28 |
- |
29 |
7-55249088-G-T |
c.2386G>T |
p.Gly796Cys |
Missense |
20/28 |
- |
2 |
7-55249089-G-A |
c.2387G>A |
p.Gly796Asp |
Missense |
20/28 |
- |
20 |
7-55249089-G-T |
c.2387G>T |
p.Gly796Val |
Missense |
20/28 |
- |
3 |
7-55249089-G-C |
c.2387G>C |
p.Gly796Ala |
Missense |
20/28 |
- |
6 |
7-55249091-TG-GC |
c.2389_2390delinsGC |
p.Cys797Ala |
Missense |
20/28 |
- |
4 |
7-55249091-TG-AA |
c.2389_2390delinsAA |
p.Cys797Asn |
Missense |
20/28 |
- |
1 |
7-55249092-G-C |
c.2390G>C |
p.Cys797Ser |
Missense |
20/28 |
- |
471 |
7-55249091-T-C |
c.2389T>C |
p.Cys797Arg |
Missense |
20/28 |
- |
1 |
7-55249091-T-A |
c.2389T>A |
p.Cys797Ser |
Missense |
20/28 |
- |
469 |
7-55249091-T-G |
c.2389T>G |
p.Cys797Gly |
Missense |
20/28 |
- |
24 |
7-55249092-G-A |
c.2390G>A |
p.Cys797Tyr |
Missense |
20/28 |
- |
2 |
7-55249093-C-A |
c.2391C>A |
p.Cys797* |
Nonsense |
20/28 |
- |
6 |
7-55249093-C-T |
c.2391C>T |
p.Cys797Cys |
Synonymous |
20/28 |
- |
1 |
7-55249094-C-A |
c.2392C>A |
p.Leu798Ile |
Missense |
20/28 |
- |
33 |
7-55249094-C-G |
c.2392C>G |
p.Leu798Val |
Missense |
20/28 |
- |
1 |
7-55249094-C-T |
c.2392C>T |
p.Leu798Phe |
Missense |
20/28 |
- |
1 |
7-55249095-TC-AA |
c.2393_2394delinsAA |
p.Leu798Gln |
Missense |
20/28 |
- |
1 |
7-55249095-T-A |
c.2393T>A |
p.Leu798His |
Missense |
20/28 |
- |
2 |
7-55249097-C-A |
c.2395C>A |
p.Leu799Met |
Missense |
20/28 |
- |
1 |
7-55249098-T-A |
c.2396T>A |
p.Leu799Gln |
Missense |
20/28 |
- |
1 |
7-55249100-GA-CT |
c.2398_2399delinsCT |
p.Asp800Leu |
Missense |
20/28 |
- |
1 |
7-55249101-A-G |
c.2399A>G |
p.Asp800Gly |
Missense |
20/28 |
- |
2 |
7-55249102-C-T |
c.2400C>T |
p.Asp800Asp |
Synonymous |
20/28 |
- |
1 |
7-55249103-T-C |
c.2401T>C |
p.Tyr801His |
Missense |
20/28 |
- |
1 |
7-55249104-A-T |
c.2402A>T |
p.Tyr801Phe |
Missense |
20/28 |
- |
1 |
7-55249104-A-G |
c.2402A>G |
p.Tyr801Cys |
Missense |
20/28 |
- |
3 |
7-55249106-G-A |
c.2404G>A |
p.Val802Ile |
Missense |
20/28 |
- |
6 |
7-55249106-G-T |
c.2404G>T |
p.Val802Phe |
Missense |
20/28 |
- |
1 |
7-55249107-T-C |
c.2405T>C |
p.Val802Ala |
Missense |
20/28 |
- |
1 |
7-55249109-C-T |
c.2407C>T |
p.Arg803Trp |
Missense |
20/28 |
- |
4 |
7-55249110-G-A |
c.2408G>A |
p.Arg803Gln |
Missense |
20/28 |
- |
1 |
7-55249112-G-A |
c.2410G>A |
p.Glu804Lys |
Missense |
20/28 |
- |
2 |
7-55249113-A-G |
c.2411A>G |
p.Glu804Gly |
Missense |
20/28 |
- |
2 |
7-55249114-A-C |
c.2412A>C |
p.Glu804Asp |
Missense |
20/28 |
- |
1 |
7-55249114-A-T |
c.2412A>T |
p.Glu804Asp |
Missense |
20/28 |
- |
1 |
7-55249115-C-T |
c.2413C>T |
p.His805Tyr |
Missense |
20/28 |
- |
2 |
7-55249116-A-T |
c.2414A>T |
p.His805Leu |
Missense |
20/28 |
- |
1 |
7-55249117-C-T |
c.2415C>T |
p.His805His |
Synonymous |
20/28 |
- |
1 |
7-55249118-A-G |
c.2416A>G |
p.Lys806Glu |
Missense |
20/28 |
- |
4 |
7-55249119-A-T |
c.2417A>T |
p.Lys806Ile |
Missense |
20/28 |
- |
2 |
7-55249121-G-A |
c.2419G>A |
p.Asp807Asn |
Missense |
20/28 |
- |
3 |
7-55249122-A-G |
c.2420A>G |
p.Asp807Gly |
Missense |
20/28 |
- |
1 |
7-55249123-C-A |
c.2421C>A |
p.Asp807Glu |
Missense |
20/28 |
- |
2 |
7-55249123-C-G |
c.2421C>G |
p.Asp807Glu |
Missense |
20/28 |
- |
2 |
7-55249125-A-G |
c.2423A>G |
p.Asn808Ser |
Missense |
20/28 |
- |
3 |
7-55249130-G-A |
c.2428G>A |
p.Gly810Ser |
Missense |
20/28 |
- |
8 |
7-55249131-G-A |
c.2429G>A |
p.Gly810Asp |
Missense |
20/28 |
- |
7 |
7-55249132-C-T |
c.2430C>T |
p.Gly810Gly |
Synonymous |
20/28 |
- |
1 |
7-55249133-T-G |
c.2431T>G |
p.Ser811Ala |
Missense |
20/28 |
- |
1 |
7-55249133-TCC-GAG |
c.2431_2433delinsGAG |
p.Ser811Glu |
Missense |
20/28 |
- |
1 |
7-55249133-TC-GA |
c.2431_2432inv |
p.Ser811Asp |
Missense |
20/28 |
- |
1 |
7-55249134-C-G |
c.2432C>G |
p.Ser811Cys |
Missense |
20/28 |
- |
2 |
7-55249134-C-T |
c.2432C>T |
p.Ser811Phe |
Missense |
20/28 |
- |
2 |
7-55249136-C-T |
c.2434C>T |
p.Gln812* |
Nonsense |
20/28 |
- |
1 |
7-55249137-A-G |
c.2435A>G |
p.Gln812Arg |
Missense |
20/28 |
- |
4 |
7-55249138-G-A |
c.2436G>A |
p.Gln812Gln |
Synonymous |
20/28 |
- |
1 |
7-55249139-T-C |
c.2437T>C |
p.Tyr813His |
Missense |
20/28 |
- |
1 |
7-55249140-A-G |
c.2438A>G |
p.Tyr813Cys |
Missense |
20/28 |
- |
2 |
7-55249140-A-T |
c.2438A>T |
p.Tyr813Phe |
Missense |
20/28 |
- |
1 |
7-55249142-C-A |
c.2440C>A |
p.Leu814Met |
Missense |
20/28 |
- |
1 |
7-55249143-T-C |
c.2441T>C |
p.Leu814Pro |
Missense |
20/28 |
- |
2 |
7-55249145-C-T |
c.2443C>T |
p.Leu815Phe |
Missense |
20/28 |
- |
2 |
7-55249146-T-C |
c.2444T>C |
p.Leu815Pro |
Missense |
20/28 |
- |
3 |
7-55249147-C-T |
c.2445C>T |
p.Leu815Leu |
Synonymous |
20/28 |
- |
1 |
7-55249147-C-A |
c.2445C>A |
p.Leu815Leu |
Synonymous |
20/28 |
- |
1 |
7-55249147-C-G |
c.2445C>G |
p.Leu815Leu |
Synonymous |
20/28 |
- |
1 |
7-55249149-A-G |
c.2447A>G |
p.Asn816Ser |
Missense |
20/28 |
- |
1 |
7-55249152-G-A |
c.2450G>A |
p.Trp817* |
Nonsense |
20/28 |
- |
1 |
7-55249153-G-A |
c.2451G>A |
p.Trp817* |
Nonsense |
20/28 |
- |
1 |
7-55249154-T-G |
c.2452T>G |
p.Cys818Gly |
Missense |
20/28 |
- |
1 |
7-55249154-T-C |
c.2452T>C |
p.Cys818Arg |
Missense |
20/28 |
- |
1 |
7-55249154-T-A |
c.2452T>A |
p.Cys818Ser |
Missense |
20/28 |
- |
1 |
7-55249155-G-C |
c.2453G>C |
p.Cys818Ser |
Missense |
20/28 |
- |
1 |
7-55249155-G-T |
c.2453G>T |
p.Cys818Phe |
Missense |
20/28 |
- |
1 |
7-55249155-G-A |
c.2453G>A |
p.Cys818Tyr |
Missense |
20/28 |
- |
2 |
7-55249157-G-A |
c.2455G>A |
p.Val819Met |
Missense |
20/28 |
- |
1 |
7-55249158-T-A |
c.2456T>A |
p.Val819Glu |
Missense |
20/28 |
- |
1 |
7-55249158-T-C |
c.2456T>C |
p.Val819Ala |
Missense |
20/28 |
- |
2 |
7-55249159-G-A |
c.2457G>A |
p.Val819Val |
Synonymous |
20/28 |
- |
6 |
7-55249161-A-G |
c.2459A>G |
p.Gln820Arg |
Missense |
20/28 |
- |
2 |
7-55249164-T-C |
c.2462T>C |
p.Ile821Thr |
Missense |
20/28 |
- |
1 |
7-55249168-A-C |
c.2466A>C |
p.Ala822Ala |
Synonymous |
20/28 |
- |
1 |
7-55249168-A-T |
c.2466A>T |
p.Ala822Ala |
Synonymous |
20/28 |
- |
1 |
7-55249168-A-G |
c.2466A>G |
p.Ala822Ala |
Synonymous |
20/28 |
- |
1 |
7-55249169-A-G |
c.2467A>G |
p.Lys823Glu |
Missense |
20/28 |
- |
1 |
7-55250026-A-G |
c.2469+855A>G |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250091-G-C |
c.2469+920G>C |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250091-G-A |
c.2469+920G>A |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250130-G-A |
c.2469+959G>A |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55250794-C-T |
c.2469+1623C>T |
- |
IntronicSNV |
- |
20/27 |
3 |
7-55251593-A-G |
c.2469+2422A>G |
- |
IntronicSNV |
- |
20/27 |
7 |
7-55251648-C-T |
c.2469+2477C>T |
- |
IntronicSNV |
- |
20/27 |
1 |
7-55251648-C-G |
c.2469+2477C>G |
- |
IntronicSNV |
- |
20/27 |
1 |
7-55251953-G-A |
c.2469+2782G>A |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55252708-C-T |
c.2469+3537C>T |
- |
IntronicSNV |
- |
20/27 |
6 |
7-55253305-C-A |
c.2469+4134C>A |
- |
IntronicSNV |
- |
20/27 |
2 |
7-55254186-G-A |
c.2469+5015G>A |
- |
IntronicSNV |
- |
20/27 |
3 |
7-55254805-A-G |
c.2470-4607A>G |
- |
IntronicSNV |
- |
20/27 |
4 |
7-55255963-T-C |
c.2470-3449T>C |
- |
IntronicSNV |
- |
20/27 |
3 |
7-55258340-T-C |
c.2470-1072T>C |
- |
IntronicSNV |
- |
20/27 |
1 |
7-55259344-C-A |
c.2470-68C>A |
- |
IntronicSNV |
- |
20/27 |
1 |
7-55259412-G-A |
c.2470G>A |
p.Gly824Ser |
Missense |
21/28 |
- |
4 |
7-55259413-G-T |
c.2471G>T |
p.Gly824Val |
Missense |
21/28 |
- |
1 |
7-55259413-G-C |
c.2471G>C |
p.Gly824Ala |
Missense |
21/28 |
- |
1 |
7-55259413-G-A |
c.2471G>A |
p.Gly824Asp |
Missense |
21/28 |
- |
1 |
7-55259415-A-C |
c.2473A>C |
p.Met825Leu |
Missense |
21/28 |
- |
1 |
7-55259415-A-T |
c.2473A>T |
p.Met825Leu |
Missense |
21/28 |
- |
1 |
7-55259415-A-G |
c.2473A>G |
p.Met825Val |
Missense |
21/28 |
- |
1 |
7-55259416-T-C |
c.2474T>C |
p.Met825Thr |
Missense |
21/28 |
- |
1 |
7-55259418-A-G |
c.2476A>G |
p.Asn826Asp |
Missense |
21/28 |
- |
1 |
7-55259418-A-C |
c.2476A>C |
p.Asn826His |
Missense |
21/28 |
- |
1 |
7-55259418-A-T |
c.2476A>T |
p.Asn826Tyr |
Missense |
21/28 |
- |
2 |
7-55259419-A-G |
c.2477A>G |
p.Asn826Ser |
Missense |
21/28 |
- |
10 |
7-55259420-C-A |
c.2478C>A |
p.Asn826Lys |
Missense |
21/28 |
- |
1 |
7-55259422-A-G |
c.2480A>G |
p.Tyr827Cys |
Missense |
21/28 |
- |
1 |
7-55259424-T-A |
c.2482T>A |
p.Leu828Met |
Missense |
21/28 |
- |
1 |
7-55259424-TT-AG |
c.2482_2483delinsAG |
p.Leu828Arg |
Missense |
21/28 |
- |
1 |
7-55259426-G-T |
c.2484G>T |
p.Leu828Phe |
Missense |
21/28 |
- |
1 |
7-55259427-G-C |
c.2485G>C |
p.Glu829Gln |
Missense |
21/28 |
- |
2 |
7-55259429-G-A |
c.2487G>A |
p.Glu829Glu |
Synonymous |
21/28 |
- |
1 |
7-55259429-G-T |
c.2487G>T |
p.Glu829Asp |
Missense |
21/28 |
- |
1 |
7-55259429-G-C |
c.2487G>C |
p.Glu829Asp |
Missense |
21/28 |
- |
1 |
7-55259430-G-A |
c.2488G>A |
p.Asp830Asn |
Missense |
21/28 |
- |
1 |
7-55259430-G-T |
c.2488G>T |
p.Asp830Tyr |
Missense |
21/28 |
- |
1 |
7-55259432-C-T |
c.2490C>T |
p.Asp830Asp |
Synonymous |
21/28 |
- |
1 |
7-55259433-C-T |
c.2491C>T |
p.Arg831Cys |
Missense |
21/28 |
- |
9 |
7-55259434-G-A |
c.2492G>A |
p.Arg831His |
Missense |
21/28 |
- |
11 |
7-55259434-G-T |
c.2492G>T |
p.Arg831Leu |
Missense |
21/28 |
- |
1 |
7-55259434-GT-AA |
c.2492_2493delinsAA |
p.Arg831Gln |
Missense |
21/28 |
- |
1 |
7-55259436-C-T |
c.2494C>T |
p.Arg832Cys |
Missense |
21/28 |
- |
2 |
7-55259437-G-A |
c.2495G>A |
p.Arg832His |
Missense |
21/28 |
- |
4 |
7-55259439-T-G |
c.2497T>G |
p.Leu833Val |
Missense |
21/28 |
- |
38 |
7-55259439-TT-AG |
c.2497_2498delinsAG |
p.Leu833Arg |
Missense |
21/28 |
- |
1 |
7-55259440-T-A |
c.2498T>A |
p.Leu833* |
Nonsense |
21/28 |
- |
3 |
7-55259441-G-C |
c.2499G>C |
p.Leu833Phe |
Missense |
21/28 |
- |
7 |
7-55259441-G-A |
c.2499G>A |
p.Leu833Leu |
Synonymous |
21/28 |
- |
1 |
7-55259441-G-T |
c.2499G>T |
p.Leu833Phe |
Missense |
21/28 |
- |
7 |
7-55259442-GGTG-G |
c.2500_2502del |
p.Val834del |
InFrameDeletion |
21/28 |
- |
1 |
7-55259442-G-A |
c.2500G>A |
p.Val834Met |
Missense |
21/28 |
- |
1 |
7-55259442-G-T |
c.2500G>T |
p.Val834Leu |
Missense |
21/28 |
- |
21 |
7-55259442-GTG-TGT |
c.2500_2502delinsTGT |
p.Val834Cys |
Missense |
21/28 |
- |
1 |
7-55259442-GTG-ATC |
c.2500_2502delinsATC |
p.Val834Ile |
Missense |
21/28 |
- |
1 |
7-55259443-T-C |
c.2501T>C |
p.Val834Ala |
Missense |
21/28 |
- |
2 |
7-55259444-G-A |
c.2502G>A |
p.Val834Val |
Synonymous |
21/28 |
- |
2 |
7-55259445-C-T |
c.2503C>T |
p.His835Tyr |
Missense |
21/28 |
- |
1 |
7-55259445-CA-TT |
c.2503_2504delinsTT |
p.His835Phe |
Missense |
21/28 |
- |
1 |
7-55259446-A-T |
c.2504A>T |
p.His835Leu |
Missense |
21/28 |
- |
24 |
7-55259448-C-G |
c.2506C>G |
p.Arg836Gly |
Missense |
21/28 |
- |
1 |
7-55259448-C-T |
c.2506C>T |
p.Arg836Cys |
Missense |
21/28 |
- |
5 |
7-55259449-G-C |
c.2507G>C |
p.Arg836Pro |
Missense |
21/28 |
- |
1 |
7-55259449-G-A |
c.2507G>A |
p.Arg836His |
Missense |
21/28 |
- |
2 |
7-55259449-G-T |
c.2507G>T |
p.Arg836Leu |
Missense |
21/28 |
- |
1 |
7-55259450-C-G |
c.2508C>G |
p.Arg836Arg |
Synonymous |
21/28 |
- |
14 |
7-55259450-C-A |
c.2508C>A |
p.Arg836Arg |
Synonymous |
21/28 |
- |
14 |
7-55259450-C-T |
c.2508C>T |
p.Arg836Arg |
Synonymous |
21/28 |
- |
16 |
7-55259451-G-A |
c.2509G>A |
p.Asp837Asn |
Missense |
21/28 |
- |
4 |
7-55259451-G-T |
c.2509G>T |
p.Asp837Tyr |
Missense |
21/28 |
- |
3 |
7-55259451-GA-AC |
c.2509_2510delinsAC |
p.Asp837Thr |
Missense |
21/28 |
- |
1 |
7-55259452-A-G |
c.2510A>G |
p.Asp837Gly |
Missense |
21/28 |
- |
1 |
7-55259452-A-C |
c.2510A>C |
p.Asp837Ala |
Missense |
21/28 |
- |
8 |
7-55259454-C-A |
c.2512C>A |
p.Leu838Met |
Missense |
21/28 |
- |
1 |
7-55259454-C-G |
c.2512C>G |
p.Leu838Val |
Missense |
21/28 |
- |
6 |
7-55259454-C-T |
c.2512C>T |
p.Leu838Leu |
Synonymous |
21/28 |
- |
1 |
7-55259455-T-C |
c.2513T>C |
p.Leu838Pro |
Missense |
21/28 |
- |
6 |
7-55259455-T-G |
c.2513T>G |
p.Leu838Arg |
Missense |
21/28 |
- |
2 |
7-55259457-G-A |
c.2515G>A |
p.Ala839Thr |
Missense |
21/28 |
- |
7 |
7-55259457-G-T |
c.2515G>T |
p.Ala839Ser |
Missense |
21/28 |
- |
1 |
7-55259458-C-T |
c.2516C>T |
p.Ala839Val |
Missense |
21/28 |
- |
1 |
7-55259458-C-CC |
c.2516dup |
p.Ala840Serfs*57 |
Frameshift |
21/28 |
- |
1 |
7-55259459-A-G |
c.2517A>G |
p.Ala839Ala |
Synonymous |
21/28 |
- |
1 |
7-55259460-G-A |
c.2518G>A |
p.Ala840Thr |
Missense |
21/28 |
- |
4 |
7-55259461-C-T |
c.2519C>T |
p.Ala840Val |
Missense |
21/28 |
- |
1 |
7-55259462-C-G |
c.2520C>G |
p.Ala840Ala |
Synonymous |
21/28 |
- |
1 |
7-55259462-C-A |
c.2520C>A |
p.Ala840Ala |
Synonymous |
21/28 |
- |
1 |
7-55259462-C-T |
c.2520C>T |
p.Ala840Ala |
Synonymous |
21/28 |
- |
1 |
7-55259463-AG-GC |
c.2521_2522delinsGC |
p.Arg841Ala |
Missense |
21/28 |
- |
1 |
7-55259463-AG-CC |
c.2521_2522delinsCC |
p.Arg841Pro |
Missense |
21/28 |
- |
1 |
7-55259464-G-T |
c.2522G>T |
p.Arg841Met |
Missense |
21/28 |
- |
1 |
7-55259464-G-A |
c.2522G>A |
p.Arg841Lys |
Missense |
21/28 |
- |
2 |
7-55259465-G-A |
c.2523G>A |
p.Arg841Arg |
Synonymous |
21/28 |
- |
2 |
7-55259466-AAC-CAA |
c.2524_2526delinsCAA |
p.Asn842Gln |
Missense |
21/28 |
- |
1 |
7-55259466-A-C |
c.2524A>C |
p.Asn842His |
Missense |
21/28 |
- |
1 |
7-55259467-A-G |
c.2525A>G |
p.Asn842Ser |
Missense |
21/28 |
- |
3 |
7-55259467-A-T |
c.2525A>T |
p.Asn842Ile |
Missense |
21/28 |
- |
1 |
7-55259468-C-G |
c.2526C>G |
p.Asn842Lys |
Missense |
21/28 |
- |
1 |
7-55259468-C-A |
c.2526C>A |
p.Asn842Lys |
Missense |
21/28 |
- |
1 |
7-55259468-C-T |
c.2526C>T |
p.Asn842Asn |
Synonymous |
21/28 |
- |
1 |
7-55259469-G-A |
c.2527G>A |
p.Val843Ile |
Missense |
21/28 |
- |
41 |
7-55259472-CT-TA |
c.2530_2531delinsTA |
p.Leu844* |
Nonsense |
21/28 |
- |
1 |
7-55259472-C-G |
c.2530C>G |
p.Leu844Val |
Missense |
21/28 |
- |
26 |
7-55259472-C-A |
c.2530C>A |
p.Leu844Met |
Missense |
21/28 |
- |
1 |
7-55259472-CTG-TTT |
c.2530_2532delinsTTT |
p.Leu844Phe |
Missense |
21/28 |
- |
1 |
7-55259472-CTG-AAC |
c.2530_2532delinsAAC |
p.Leu844Asn |
Missense |
21/28 |
- |
1 |
7-55259474-G-A |
c.2532G>A |
p.Leu844Leu |
Synonymous |
21/28 |
- |
1 |
7-55259475-G-A |
c.2533G>A |
p.Val845Met |
Missense |
21/28 |
- |
3 |
7-55259476-T-C |
c.2534T>C |
p.Val845Ala |
Missense |
21/28 |
- |
2 |
7-55259479-A-T |
c.2537A>T |
p.Lys846Ile |
Missense |
21/28 |
- |
1 |
7-55259479-A-G |
c.2537A>G |
p.Lys846Arg |
Missense |
21/28 |
- |
5 |
7-55259481-A-G |
c.2539A>G |
p.Thr847Ala |
Missense |
21/28 |
- |
6 |
7-55259482-C-G |
c.2540C>G |
p.Thr847Arg |
Missense |
21/28 |
- |
1 |
7-55259482-C-T |
c.2540C>T |
p.Thr847Ile |
Missense |
21/28 |
- |
6 |
7-55259485-C-A |
c.2543C>A |
p.Pro848Gln |
Missense |
21/28 |
- |
1 |
7-55259485-C-T |
c.2543C>T |
p.Pro848Leu |
Missense |
21/28 |
- |
31 |
7-55259486-G-A |
c.2544G>A |
p.Pro848Pro |
Synonymous |
21/28 |
- |
1 |
7-55259488-A-G |
c.2546A>G |
p.Gln849Arg |
Missense |
21/28 |
- |
2 |
7-55259488-A-T |
c.2546A>T |
p.Gln849Leu |
Missense |
21/28 |
- |
3 |
7-55259489-G-A |
c.2547G>A |
p.Gln849Gln |
Synonymous |
21/28 |
- |
1 |
7-55259490-C-G |
c.2548C>G |
p.His850Asp |
Missense |
21/28 |
- |
2 |
7-55259490-C-T |
c.2548C>T |
p.His850Tyr |
Missense |
21/28 |
- |
2 |
7-55259491-A-G |
c.2549A>G |
p.His850Arg |
Missense |
21/28 |
- |
1 |
7-55259491-A-T |
c.2549A>T |
p.His850Leu |
Missense |
21/28 |
- |
1 |
7-55259493-G-A |
c.2551G>A |
p.Val851Ile |
Missense |
21/28 |
- |
6 |
7-55259493-GTC-TAA |
c.2551_2553delinsTAA |
p.Val851* |
Nonsense |
21/28 |
- |
2 |
7-55259494-T-C |
c.2552T>C |
p.Val851Ala |
Missense |
21/28 |
- |
3 |
7-55259496-A-C |
c.2554A>C |
p.Lys852Gln |
Missense |
21/28 |
- |
1 |
7-55259497-A-G |
c.2555A>G |
p.Lys852Arg |
Missense |
21/28 |
- |
1 |
7-55259500-T-C |
c.2558T>C |
p.Ile853Thr |
Missense |
21/28 |
- |
3 |
7-55259502-A-T |
c.2560A>T |
p.Thr854Ser |
Missense |
21/28 |
- |
3 |
7-55259502-A-C |
c.2560A>C |
p.Thr854Pro |
Missense |
21/28 |
- |
1 |
7-55259502-A-G |
c.2560A>G |
p.Thr854Ala |
Missense |
21/28 |
- |
119 |
7-55259503-C-T |
c.2561C>T |
p.Thr854Ile |
Missense |
21/28 |
- |
2 |
7-55259503-C-G |
c.2561C>G |
p.Thr854Arg |
Missense |
21/28 |
- |
1 |
7-55259503-C-A |
c.2561C>A |
p.Thr854Lys |
Missense |
21/28 |
- |
1 |
7-55259503-C-CC |
c.2561dup |
p.Asp855Argfs*42 |
Frameshift |
21/28 |
- |
1 |
7-55259505-G-A |
c.2563G>A |
p.Asp855Asn |
Missense |
21/28 |
- |
5 |
7-55259505-G-C |
c.2563G>C |
p.Asp855His |
Missense |
21/28 |
- |
2 |
7-55259506-A-G |
c.2564A>G |
p.Asp855Gly |
Missense |
21/28 |
- |
5 |
7-55259506-A-C |
c.2564A>C |
p.Asp855Ala |
Missense |
21/28 |
- |
4 |
7-55259507-T-C |
c.2565T>C |
p.Asp855Asp |
Synonymous |
21/28 |
- |
1 |
7-55259510-T-A |
c.2568T>A |
p.Phe856Leu |
Missense |
21/28 |
- |
4 |
7-55259510-T-G |
c.2568T>G |
p.Phe856Leu |
Missense |
21/28 |
- |
4 |
7-55259508-T-C |
c.2566T>C |
p.Phe856Leu |
Missense |
21/28 |
- |
4 |
7-55259509-T-A |
c.2567T>A |
p.Phe856Tyr |
Missense |
21/28 |
- |
2 |
7-55259509-T-C |
c.2567T>C |
p.Phe856Ser |
Missense |
21/28 |
- |
1 |
7-55259511-G-T |
c.2569G>T |
p.Gly857Trp |
Missense |
21/28 |
- |
1 |
7-55259511-G-A |
c.2569G>A |
p.Gly857Arg |
Missense |
21/28 |
- |
7 |
7-55259512-G-T |
c.2570G>T |
p.Gly857Val |
Missense |
21/28 |
- |
4 |
7-55259512-G-A |
c.2570G>A |
p.Gly857Glu |
Missense |
21/28 |
- |
11 |
7-55259513-G-A |
c.2571G>A |
p.Gly857Gly |
Synonymous |
21/28 |
- |
1 |
7-55259514-CT-GG |
c.2572_2573delinsGG |
p.Leu858Gly |
Missense |
21/28 |
- |
1 |
7-55259514-CT-GA |
c.2572_2573delinsGA |
p.Leu858Glu |
Missense |
21/28 |
- |
1 |
7-55259514-CT-GC |
c.2572_2573delinsGC |
p.Leu858Ala |
Missense |
21/28 |
- |
3 |
7-55259514-CT-AA |
c.2572_2573delinsAA |
p.Leu858Lys |
Missense |
21/28 |
- |
2 |
7-55259514-CTG-ATC |
c.2572_2574delinsATC |
p.Leu858Ile |
Missense |
21/28 |
- |
2 |
7-55259514-C-G |
c.2572C>G |
p.Leu858Val |
Missense |
21/28 |
- |
2 |
7-55259514-CTG-TTT |
c.2572_2574delinsTTT |
p.Leu858Phe |
Missense |
21/28 |
- |
1 |
7-55259514-CT-TG |
c.2572_2573delinsTG |
p.Leu858Trp |
Missense |
21/28 |
- |
2 |
7-55259514-GCTG-G |
c.2572_2574del |
p.Leu858del |
InFrameDeletion |
21/28 |
- |
1 |
7-55259514-C-A |
c.2572C>A |
p.Leu858Met |
Missense |
21/28 |
- |
24 |
7-55259514-CTG-GAC |
c.2572_2574delinsGAC |
p.Leu858Asp |
Missense |
21/28 |
- |
1 |
7-55259515-T-G |
c.2573T>G |
p.Leu858Arg |
Missense |
21/28 |
- |
4563 |
7-55259515-T-C |
c.2573T>C |
p.Leu858Pro |
Missense |
21/28 |
- |
2 |
7-55259515-T-A |
c.2573T>A |
p.Leu858Gln |
Missense |
21/28 |
- |
14 |
7-55259515-TG-GT |
c.2573_2574delinsGT |
p.Leu858Arg |
Missense |
21/28 |
- |
1 |
7-55259515-TG-AT |
c.2573_2574delinsAT |
p.Leu858His |
Missense |
21/28 |
- |
1 |
7-55259515-TG-GA |
c.2573_2574delinsGA |
p.Leu858Arg |
Missense |
21/28 |
- |
1 |
7-55259516-G-A |
c.2574G>A |
p.Leu858Leu |
Synonymous |
21/28 |
- |
4 |
7-55259514-C-T |
c.2572C>T |
p.Leu858Leu |
Synonymous |
21/28 |
- |
4 |
7-55259516-G-C |
c.2574G>C |
p.Leu858Leu |
Synonymous |
21/28 |
- |
4 |
7-55259516-G-T |
c.2574G>T |
p.Leu858Leu |
Synonymous |
21/28 |
- |
5 |
7-55259517-G-T |
c.2575G>T |
p.Ala859Ser |
Missense |
21/28 |
- |
3 |
7-55259517-GCC-TAA |
c.2575_2577delinsTAA |
p.Ala859* |
Nonsense |
21/28 |
- |
1 |
7-55259517-G-A |
c.2575G>A |
p.Ala859Thr |
Missense |
21/28 |
- |
15 |
7-55259518-C-T |
c.2576C>T |
p.Ala859Val |
Missense |
21/28 |
- |
2 |
7-55259519-C-T |
c.2577C>T |
p.Ala859Ala |
Synonymous |
21/28 |
- |
1 |
7-55259520-A-G |
c.2578A>G |
p.Lys860Glu |
Missense |
21/28 |
- |
5 |
7-55259521-AAA-A |
c.2579_2580del |
p.Lys860Thrfs*36 |
Frameshift |
21/28 |
- |
1 |
7-55259521-A-T |
c.2579A>T |
p.Lys860Ile |
Missense |
21/28 |
- |
10 |
7-55259521-A-G |
c.2579A>G |
p.Lys860Arg |
Missense |
21/28 |
- |
1 |
7-55259522-A-T |
c.2580A>T |
p.Lys860Asn |
Missense |
21/28 |
- |
2 |
7-55259523-CT-GA |
c.2581_2582delinsGA |
p.Leu861Glu |
Missense |
21/28 |
- |
3 |
7-55259523-CT-GG |
c.2581_2582delinsGG |
p.Leu861Gly |
Missense |
21/28 |
- |
10 |
7-55259523-C-G |
c.2581C>G |
p.Leu861Val |
Missense |
21/28 |
- |
3 |
7-55259523-C-A |
c.2581C>A |
p.Leu861Met |
Missense |
21/28 |
- |
1 |
7-55259523-CT-AA |
c.2581_2582delinsAA |
p.Leu861Lys |
Missense |
21/28 |
- |
2 |
7-55259523-CTG-ATC |
c.2581_2583delinsATC |
p.Leu861Ile |
Missense |
21/28 |
- |
1 |
7-55259523-CTG-TTT |
c.2581_2583delinsTTT |
p.Leu861Phe |
Missense |
21/28 |
- |
2 |
7-55259523-CT-TA |
c.2581_2582delinsTA |
p.Leu861* |
Nonsense |
21/28 |
- |
18 |
7-55259524-T-A |
c.2582T>A |
p.Leu861Gln |
Missense |
21/28 |
- |
858 |
7-55259524-T-G |
c.2582T>G |
p.Leu861Arg |
Missense |
21/28 |
- |
45 |
7-55259524-T-C |
c.2582T>C |
p.Leu861Pro |
Missense |
21/28 |
- |
7 |
7-55259523-C-T |
c.2581C>T |
p.Leu861Leu |
Synonymous |
21/28 |
- |
2 |
7-55259525-G-A |
c.2583G>A |
p.Leu861Leu |
Synonymous |
21/28 |
- |
2 |
7-55259526-CTG-TAT |
c.2584_2586delinsTAT |
p.Leu862Tyr |
Missense |
21/28 |
- |
1 |
7-55259526-C-G |
c.2584C>G |
p.Leu862Val |
Missense |
21/28 |
- |
2 |
7-55259527-T-A |
c.2585T>A |
p.Leu862Gln |
Missense |
21/28 |
- |
1 |
7-55259527-T-G |
c.2585T>G |
p.Leu862Arg |
Missense |
21/28 |
- |
4 |
7-55259529-G-A |
c.2587G>A |
p.Gly863Ser |
Missense |
21/28 |
- |
6 |
7-55259529-G-T |
c.2587G>T |
p.Gly863Cys |
Missense |
21/28 |
- |
2 |
7-55259530-G-A |
c.2588G>A |
p.Gly863Asp |
Missense |
21/28 |
- |
16 |
7-55259530-G-T |
c.2588G>T |
p.Gly863Val |
Missense |
21/28 |
- |
3 |
7-55259532-G-A |
c.2590G>A |
p.Ala864Thr |
Missense |
21/28 |
- |
4 |
7-55259533-C-T |
c.2591C>T |
p.Ala864Val |
Missense |
21/28 |
- |
6 |
7-55259534-G-A |
c.2592G>A |
p.Ala864Ala |
Synonymous |
21/28 |
- |
1 |
7-55259535-G-A |
c.2593G>A |
p.Glu865Lys |
Missense |
21/28 |
- |
3 |
7-55259536-A-G |
c.2594A>G |
p.Glu865Gly |
Missense |
21/28 |
- |
1 |
7-55259538-G-T |
c.2596G>T |
p.Glu866* |
Nonsense |
21/28 |
- |
1 |
7-55259538-G-C |
c.2596G>C |
p.Glu866Gln |
Missense |
21/28 |
- |
1 |
7-55259538-G-A |
c.2596G>A |
p.Glu866Lys |
Missense |
21/28 |
- |
4 |
7-55259538-GA-AG |
c.2596_2597delinsAG |
p.Glu866Arg |
Missense |
21/28 |
- |
1 |
7-55259539-A-G |
c.2597A>G |
p.Glu866Gly |
Missense |
21/28 |
- |
1 |
7-55259540-G-C |
c.2598G>C |
p.Glu866Asp |
Missense |
21/28 |
- |
1 |
7-55259540-G-T |
c.2598G>T |
p.Glu866Asp |
Missense |
21/28 |
- |
1 |
7-55259541-AAA-GAC |
c.2599_2601delinsGAC |
p.Lys867Asp |
Missense |
21/28 |
- |
1 |
7-55259541-A-G |
c.2599A>G |
p.Lys867Glu |
Missense |
21/28 |
- |
2 |
7-55259542-A-T |
c.2600A>T |
p.Lys867Ile |
Missense |
21/28 |
- |
1 |
7-55259543-A-C |
c.2601A>C |
p.Lys867Asn |
Missense |
21/28 |
- |
1 |
7-55259543-A-T |
c.2601A>T |
p.Lys867Asn |
Missense |
21/28 |
- |
1 |
7-55259544-G-A |
c.2602G>A |
p.Glu868Lys |
Missense |
21/28 |
- |
4 |
7-55259544-G-C |
c.2602G>C |
p.Glu868Gln |
Missense |
21/28 |
- |
1 |
7-55259545-A-G |
c.2603A>G |
p.Glu868Gly |
Missense |
21/28 |
- |
7 |
7-55259545-A-T |
c.2603A>T |
p.Glu868Val |
Missense |
21/28 |
- |
2 |
7-55259546-A-C |
c.2604A>C |
p.Glu868Asp |
Missense |
21/28 |
- |
1 |
7-55259546-A-T |
c.2604A>T |
p.Glu868Asp |
Missense |
21/28 |
- |
1 |
7-55259548-A-T |
c.2606A>T |
p.Tyr869Phe |
Missense |
21/28 |
- |
1 |
7-55259549-C-A |
c.2607C>A |
p.Tyr869* |
Nonsense |
21/28 |
- |
1 |
7-55259550-C-T |
c.2608C>T |
p.His870Tyr |
Missense |
21/28 |
- |
2 |
7-55259551-A-G |
c.2609A>G |
p.His870Arg |
Missense |
21/28 |
- |
6 |
7-55259552-T-G |
c.2610T>G |
p.His870Gln |
Missense |
21/28 |
- |
2 |
7-55259552-T-A |
c.2610T>A |
p.His870Gln |
Missense |
21/28 |
- |
2 |
7-55259553-G-A |
c.2611G>A |
p.Ala871Thr |
Missense |
21/28 |
- |
5 |
7-55259553-G-T |
c.2611G>T |
p.Ala871Ser |
Missense |
21/28 |
- |
1 |
7-55259554-C-G |
c.2612C>G |
p.Ala871Gly |
Missense |
21/28 |
- |
7 |
7-55259554-C-A |
c.2612C>A |
p.Ala871Glu |
Missense |
21/28 |
- |
6 |
7-55259554-C-T |
c.2612C>T |
p.Ala871Val |
Missense |
21/28 |
- |
3 |
7-55259556-G-A |
c.2614G>A |
p.Glu872Lys |
Missense |
21/28 |
- |
10 |
7-55259559-G-A |
c.2617G>A |
p.Gly873Arg |
Missense |
21/28 |
- |
6 |
7-55259560-G-A |
c.2618G>A |
p.Gly873Glu |
Missense |
21/28 |
- |
12 |
7-55259562-G-C |
c.2620G>C |
p.Gly874Arg |
Missense |
21/28 |
- |
1 |
7-55259562-G-A |
c.2620G>A |
p.Gly874Ser |
Missense |
21/28 |
- |
3 |
7-55259563-G-A |
c.2621G>A |
p.Gly874Asp |
Missense |
21/28 |
- |
1 |
7-55259564-C-A |
c.2622C>A |
p.Gly874Gly |
Synonymous |
21/28 |
- |
1 |
7-55259568-G-A |
c.2625+1G>A |
- |
IntronicSNV |
- |
21/27 |
1 |
7-55259635-C-T |
c.2625+68C>T |
- |
IntronicSNV |
- |
21/27 |
1 |
7-55259763-A-G |
c.2625+196A>G |
- |
IntronicSNV |
- |
21/27 |
4 |
7-55259948-C-G |
c.2625+381C>G |
- |
IntronicSNV |
- |
21/27 |
1 |
7-55260467-C-T |
c.2634C>T |
p.Ile878Ile |
Synonymous |
22/28 |
- |
1 |
7-55260469-A-G |
c.2636A>G |
p.Lys879Arg |
Missense |
22/28 |
- |
1 |
7-55260475-T-C |
c.2642T>C |
p.Met881Thr |
Missense |
22/28 |
- |
1 |
7-55260480-T-G |
c.2647T>G |
p.Leu883Val |
Missense |
22/28 |
- |
2 |
7-55260481-T-C |
c.2648T>C |
p.Leu883Ser |
Missense |
22/28 |
- |
1 |
7-55260483-G-A |
c.2650G>A |
p.Glu884Lys |
Missense |
22/28 |
- |
14 |
7-55260487-C-T |
c.2654C>T |
p.Ser885Leu |
Missense |
22/28 |
- |
1 |
7-55260498-A-G |
c.2665A>G |
p.Arg889Gly |
Missense |
22/28 |
- |
1 |
7-55260498-AGA-TGG |
c.2665_2667delinsTGG |
p.Arg889Trp |
Missense |
22/28 |
- |
1 |
7-55260505-A-G |
c.2672A>G |
p.Tyr891Cys |
Missense |
22/28 |
- |
1 |
7-55260506-T-C |
c.2673T>C |
p.Tyr891Tyr |
Synonymous |
22/28 |
- |
1 |
7-55260511-A-G |
c.2678A>G |
p.His893Arg |
Missense |
22/28 |
- |
2 |
7-55260523-T-C |
c.2690T>C |
p.Val897Ala |
Missense |
22/28 |
- |
3 |
7-55260528-AG-TT |
c.2695_2696delinsTT |
p.Ser899Phe |
Missense |
22/28 |
- |
1 |
7-55260534-G-A |
c.2701G>A |
p.Gly901Arg |
Missense |
22/28 |
- |
1 |
7-55260534-G-C |
c.2701G>C |
p.Gly901Arg |
Missense |
22/28 |
- |
1 |
7-55261342-A-C |
c.2701+808A>C |
- |
IntronicSNV |
- |
22/27 |
2 |
7-55262627-T-A |
c.2701+2093T>A |
- |
IntronicSNV |
- |
22/27 |
1 |
7-55262627-T-C |
c.2701+2093T>C |
- |
IntronicSNV |
- |
22/27 |
1 |
7-55263562-G-C |
c.2702-2848G>C |
- |
IntronicSNV |
- |
22/27 |
3 |
7-55263562-G-A |
c.2702-2848G>A |
- |
IntronicSNV |
- |
22/27 |
3 |
7-55265354-A-T |
c.2702-1056A>T |
- |
IntronicSNV |
- |
22/27 |
2 |
7-55265940-G-A |
c.2702-470G>A |
- |
IntronicSNV |
- |
22/27 |
2 |
7-55265940-G-C |
c.2702-470G>C |
- |
IntronicSNV |
- |
22/27 |
2 |
7-55266417-T-C |
c.2709T>C |
p.Thr903Thr |
Synonymous |
23/28 |
- |
19 |
7-55266417-T-G |
c.2709T>G |
p.Thr903Thr |
Synonymous |
23/28 |
- |
8 |
7-55266417-T-A |
c.2709T>A |
p.Thr903Thr |
Synonymous |
23/28 |
- |
18 |
7-55266424-G-T |
c.2716G>T |
p.Glu906* |
Nonsense |
23/28 |
- |
1 |
7-55266434-CC-TG |
c.2726_2727delinsTG |
p.Thr909Met |
Missense |
23/28 |
- |
1 |
7-55266442-T-C |
c.2734T>C |
p.Ser912Pro |
Missense |
23/28 |
- |
1 |
7-55266454-G-C |
c.2746G>C |
p.Asp916His |
Missense |
23/28 |
- |
1 |
7-55266456-C-T |
c.2748C>T |
p.Asp916Asp |
Synonymous |
23/28 |
- |
1 |
7-55266465-T-C |
c.2757T>C |
p.Pro919Pro |
Synonymous |
23/28 |
- |
1 |
7-55266472-G-A |
c.2764G>A |
p.Glu922Lys |
Missense |
23/28 |
- |
1 |
7-55266476-T-C |
c.2768T>C |
p.Ile923Thr |
Missense |
23/28 |
- |
1 |
7-55266490-G-A |
c.2782G>A |
p.Glu928Lys |
Missense |
23/28 |
- |
1 |
7-55266491-A-G |
c.2783A>G |
p.Glu928Gly |
Missense |
23/28 |
- |
4 |
7-55266500-A-G |
c.2792A>G |
p.Glu931Gly |
Missense |
23/28 |
- |
1 |
7-55266501-A-G |
c.2793A>G |
p.Glu931Glu |
Synonymous |
23/28 |
- |
1 |
7-55266502-C-T |
c.2794C>T |
p.Arg932Cys |
Missense |
23/28 |
- |
1 |
7-55266506-T-C |
c.2798T>C |
p.Leu933Pro |
Missense |
23/28 |
- |
1 |
7-55266511-C-T |
c.2803C>T |
p.Gln935* |
Nonsense |
23/28 |
- |
1 |
7-55266512-A-T |
c.2804A>T |
p.Gln935Leu |
Missense |
23/28 |
- |
1 |
7-55266518-C-T |
c.2810C>T |
p.Pro937Leu |
Missense |
23/28 |
- |
3 |
7-55266522-A-G |
c.2814A>G |
p.Ile938Met |
Missense |
23/28 |
- |
1 |
7-55266526-A-G |
c.2818A>G |
p.Thr940Ala |
Missense |
23/28 |
- |
4 |
7-55266530-TC-GG |
c.2822_2823delinsGG |
p.Ile941Arg |
Missense |
23/28 |
- |
8 |
7-55266538-T-G |
c.2830T>G |
p.Tyr944Asp |
Missense |
23/28 |
- |
1 |
7-55266538-TAC-GAG |
c.2830_2832delinsGAG |
p.Tyr944Glu |
Missense |
23/28 |
- |
1 |
7-55266539-A-T |
c.2831A>T |
p.Tyr944Phe |
Missense |
23/28 |
- |
2 |
7-55266541-AT-CA |
c.2833_2834delinsCA |
p.Met945Gln |
Missense |
23/28 |
- |
1 |
7-55266542-T-A |
c.2834T>A |
p.Met945Lys |
Missense |
23/28 |
- |
1 |
7-55266547-A-G |
c.2839A>G |
p.Met947Val |
Missense |
23/28 |
- |
1 |
7-55266548-T-C |
c.2840T>C |
p.Met947Thr |
Missense |
23/28 |
- |
3 |
7-55266550-G-A |
c.2842G>A |
p.Val948Ile |
Missense |
23/28 |
- |
1 |
7-55266550-GT-CG |
c.2842_2843delinsCG |
p.Val948Arg |
Missense |
23/28 |
- |
20 |
7-55266551-T-G |
c.2843T>G |
p.Val948Gly |
Missense |
23/28 |
- |
1 |
7-55266554-A-T |
c.2846A>T |
p.Lys949Met |
Missense |
23/28 |
- |
1 |
7-55266757-C-T |
c.2848+201C>T |
- |
IntronicSNV |
- |
23/27 |
2 |
7-55268015-T-G |
c.2855T>G |
p.Met952Arg |
Missense |
24/28 |
- |
4 |
7-55268021-A-C |
c.2861A>C |
p.Asp954Ala |
Missense |
24/28 |
- |
3 |
7-55268027-A-T |
c.2867A>T |
p.Asp956Val |
Missense |
24/28 |
- |
1 |
7-55268032-CG-GA |
c.2872_2873delinsGA |
p.Arg958Asp |
Missense |
24/28 |
- |
1 |
7-55268036-C-T |
c.2876C>T |
p.Pro959Leu |
Missense |
24/28 |
- |
1 |
7-55268044-CGT-GAG |
c.2884_2886delinsGAG |
p.Arg962Glu |
Missense |
24/28 |
- |
1 |
7-55268044-C-T |
c.2884C>T |
p.Arg962Cys |
Missense |
24/28 |
- |
2 |
7-55268044-C-G |
c.2884C>G |
p.Arg962Gly |
Missense |
24/28 |
- |
3 |
7-55268044-C-A |
c.2884C>A |
p.Arg962Ser |
Missense |
24/28 |
- |
1 |
7-55268050-T-C |
c.2890T>C |
p.Leu964Leu |
Synonymous |
24/28 |
- |
1 |
7-55268052-G-A |
c.2892G>A |
p.Leu964Leu |
Synonymous |
24/28 |
- |
1 |
7-55268064-C-A |
c.2904C>A |
p.Phe968Leu |
Missense |
24/28 |
- |
1 |
7-55268064-C-G |
c.2904C>G |
p.Phe968Leu |
Missense |
24/28 |
- |
1 |
7-55268062-T-C |
c.2902T>C |
p.Phe968Leu |
Missense |
24/28 |
- |
1 |
7-55268064-C-T |
c.2904C>T |
p.Phe968Phe |
Synonymous |
24/28 |
- |
1 |
7-55268065-TC-GA |
c.2905_2906inv |
p.Ser969Asp |
Missense |
24/28 |
- |
1 |
7-55268068-A-G |
c.2908A>G |
p.Lys970Glu |
Missense |
24/28 |
- |
1 |
7-55268078-G-A |
c.2918G>A |
p.Arg973Gln |
Missense |
24/28 |
- |
1 |
7-55268089-CGC-TGA |
c.2929_2931delinsTGA |
p.Arg977* |
Nonsense |
24/28 |
- |
1 |
7-55268089-C-T |
c.2929C>T |
p.Arg977Cys |
Missense |
24/28 |
- |
3 |
7-55268093-A-T |
c.2933A>T |
p.Tyr978Phe |
Missense |
24/28 |
- |
1 |
7-55268104-C-T |
c.2944C>T |
p.Gln982* |
Nonsense |
24/28 |
- |
1 |
7-55268897-A-C |
c.2963A>C |
p.His988Pro |
Missense |
25/28 |
- |
3 |
7-55268897-A-G |
c.2963A>G |
p.His988Arg |
Missense |
25/28 |
- |
1 |
7-55268905-AG-GC |
c.2971_2972delinsGC |
p.Ser991Ala |
Missense |
25/28 |
- |
1 |
7-55268916-C-T |
c.2982C>T |
p.Asp994Asp |
Synonymous |
25/28 |
- |
27 |
7-55268922-C-A |
c.2988C>A |
p.Asn996Lys |
Missense |
25/28 |
- |
1 |
7-55268927-A-T |
c.2993A>T |
p.Tyr998Phe |
Missense |
25/28 |
- |
2 |
7-55268944-G-A |
c.3010G>A |
p.Glu1004Lys |
Missense |
25/28 |
- |
2 |
7-55268953-ATG-GAC |
c.3019_3021delinsGAC |
p.Met1007Asp |
Missense |
25/28 |
- |
1 |
7-55268968-G-C |
c.3034G>C |
p.Asp1012His |
Missense |
25/28 |
- |
1 |
7-55268972-C-T |
c.3038C>T |
p.Ala1013Val |
Missense |
25/28 |
- |
1 |
7-55268974-GAC-AAG |
c.3040_3042delinsAAG |
p.Asp1014Lys |
Missense |
25/28 |
- |
1 |
7-55268974-G-A |
c.3040G>A |
p.Asp1014Asn |
Missense |
25/28 |
- |
1 |
7-55268977-G-A |
c.3043G>A |
p.Glu1015Lys |
Missense |
25/28 |
- |
1 |
7-55268981-A-T |
c.3047A>T |
p.Tyr1016Phe |
Missense |
25/28 |
- |
1 |
7-55268989-C-A |
c.3055C>A |
p.Pro1019Thr |
Missense |
25/28 |
- |
2 |
7-55268990-C-A |
c.3056C>A |
p.Pro1019Gln |
Missense |
25/28 |
- |
1 |
7-55269007-AGC-GAG |
c.3073_3075delinsGAG |
p.Ser1025Glu |
Missense |
25/28 |
- |
1 |
7-55269031-C-T |
c.3097C>T |
p.Pro1033Ser |
Missense |
25/28 |
- |
2 |
7-55269042-C-G |
c.3108C>G |
p.Ser1036Arg |
Missense |
25/28 |
- |
1 |
7-55269042-C-A |
c.3108C>A |
p.Ser1036Arg |
Missense |
25/28 |
- |
1 |
7-55269040-A-C |
c.3106A>C |
p.Ser1036Arg |
Missense |
25/28 |
- |
1 |
7-55269046-CT-GC |
c.3112_3113delinsGC |
p.Leu1038Ala |
Missense |
25/28 |
- |
1 |
7-55269446-T-G |
c.3133T>G |
p.Ser1045Ala |
Missense |
26/28 |
- |
1 |
7-55269456-C-T |
c.3143C>T |
p.Ala1048Val |
Missense |
26/28 |
- |
1 |
7-55269458-TG-GC |
c.3145_3146delinsGC |
p.Cys1049Ala |
Missense |
26/28 |
- |
2 |
7-55270231-G-T |
c.3184G>T |
p.Glu1062* |
Nonsense |
27/28 |
- |
1 |
7-55270235-A-C |
c.3188A>C |
p.Asp1063Ala |
Missense |
27/28 |
- |
1 |
7-55270246-C-T |
c.3199C>T |
p.Gln1067* |
Nonsense |
27/28 |
- |
1 |
7-55270249-C-T |
c.3202C>T |
p.Arg1068* |
Nonsense |
27/28 |
- |
2 |
7-55270253-A-G |
c.3206A>G |
p.Tyr1069Cys |
Missense |
27/28 |
- |
3 |
7-55270253-A-T |
c.3206A>T |
p.Tyr1069Phe |
Missense |
27/28 |
- |
1 |
7-55270273-G-A |
c.3226G>A |
p.Ala1076Thr |
Missense |
27/28 |
- |
1 |
7-55270282-G-A |
c.3235G>A |
p.Glu1079Lys |
Missense |
27/28 |
- |
1 |
7-55270291-A-T |
c.3244A>T |
p.Ile1082Leu |
Missense |
27/28 |
- |
1 |
7-55270294-G-A |
c.3247G>A |
p.Asp1083Asn |
Missense |
27/28 |
- |
1 |
7-55270297-G-A |
c.3250G>A |
p.Asp1084Asn |
Missense |
27/28 |
- |
1 |
7-55270301-C-A |
c.3254C>A |
p.Thr1085Asn |
Missense |
27/28 |
- |
1 |
7-55270310-C-T |
c.3263C>T |
p.Pro1088Leu |
Missense |
27/28 |
- |
1 |
7-55272952-A-T |
c.3275A>T |
p.Tyr1092Phe |
Missense |
28/28 |
- |
1 |
7-55272976-AGG-A |
c.3299_3300del |
p.Arg1100Thrfs*66 |
Frameshift |
28/28 |
- |
1 |
7-55272987-T-G |
c.3310T>G |
p.Ser1104Ala |
Missense |
28/28 |
- |
1 |
7-55273006-A-T |
c.3329A>T |
p.Tyr1110Phe |
Missense |
28/28 |
- |
2 |
7-55273014-C-G |
c.3337C>G |
p.Gln1113Glu |
Missense |
28/28 |
- |
1 |
7-55273029-G-A |
c.3352G>A |
p.Ala1118Thr |
Missense |
28/28 |
- |
3 |
7-55273051-A-T |
c.3374A>T |
p.Tyr1125Phe |
Missense |
28/28 |
- |
1 |
7-55273056-G-A |
c.3379G>A |
p.Asp1127Asn |
Missense |
28/28 |
- |
1 |
7-55273089-TA-GC |
c.3412_3413delinsGC |
p.Tyr1138Ala |
Missense |
28/28 |
- |
1 |
7-55273090-A-T |
c.3413A>T |
p.Tyr1138Phe |
Missense |
28/28 |
- |
1 |
7-55273113-TG-GC |
c.3436_3437delinsGC |
p.Cys1146Ala |
Missense |
28/28 |
- |
1 |
7-55273135-G-T |
c.3458G>T |
p.Ser1153Ile |
Missense |
28/28 |
- |
1 |
7-55273150-C-T |
c.3473C>T |
p.Ala1158Val |
Missense |
28/28 |
- |
1 |
7-55273176-C-G |
c.3499C>G |
p.Leu1167Val |
Missense |
28/28 |
- |
2 |
7-55273185-C-G |
c.3508C>G |
p.Pro1170Ala |
Missense |
28/28 |
- |
3 |
7-55273192-A-T |
c.3515A>T |
p.Tyr1172Phe |
Missense |
28/28 |
- |
1 |
7-55273193-C-T |
c.3516C>T |
p.Tyr1172Tyr |
Synonymous |
28/28 |
- |
1 |
7-55273215-GGAAG-G |
c.3538_3541del |
p.Glu1180Profs*18 |
Frameshift |
28/28 |
- |
1 |
7-55273245-T-C |
c.3568T>C |
p.Ser1190Pro |
Missense |
28/28 |
- |
1 |
7-55273248-ACA-TGT |
c.3571_3573inv |
p.Thr1191Cys |
Missense |
28/28 |
- |
2 |
7-55273267-A-T |
c.3590A>T |
p.Tyr1197Phe |
Missense |
28/28 |
- |
2 |
7-55273269-CTA-TTT |
c.3592_3594delinsTTT |
p.Leu1198Phe |
Missense |
28/28 |
- |
3 |
7-55273278-G-A |
c.3601G>A |
p.Ala1201Thr |
Missense |
28/28 |
- |
1 |
7-55274031-G-A |
c.*721G>A |
- |
3-UTRSNV |
28/28 |
- |
1 |
7-55274084-T-C |
c.*774T>C |
- |
3-UTRSNV |
28/28 |
- |
12 |
7-55274084-T-G |
c.*774T>G |
- |
3-UTRSNV |
28/28 |
- |
12 |
7-55275482-G-T |
c.*2172G>T |
- |
IntergenicSNV |
28/28 |
- |
4 |
7-55275482-G-A |
c.*2172G>A |
- |
IntergenicSNV |
28/28 |
- |
4 |
7-55276094-A-G |
c.*2784A>G |
- |
IntergenicSNV |
28/28 |
- |
4 |
7-55276280-G-C |
c.*2970G>C |
- |
IntergenicSNV |
28/28 |
- |
6 |
7-55276280-G-A |
c.*2970G>A |
- |
IntergenicSNV |
28/28 |
- |
6 |
7-55277387-C-T |
c.*4077C>T |
- |
IntergenicSNV |
28/28 |
- |
2 |
7-55277964-G-A |
c.*4654G>A |
- |
IntergenicSNV |
28/28 |
- |
2 |
7-55278852-C-A |
c.*5542C>A |
- |
IntergenicSNV |
28/28 |
- |
2 |
7-55279280-C-A |
c.*5970C>A |
- |
IntergenicSNV |
28/28 |
- |
1 |