10-89623716-G-A |
c.-511G>A |
- |
5-UTRSNV |
1/9 |
- |
4 |
10-89623716-G-C |
c.-511G>C |
- |
5-UTRSNV |
1/9 |
- |
4 |
10-89623760-A-C |
c.-467A>C |
- |
5-UTRSNV |
1/9 |
- |
1 |
10-89624103-G-A |
c.-124G>A |
- |
5-UTRSNV |
1/9 |
- |
1 |
10-89624218-C-G |
c.-9C>G |
- |
5-UTRSNV |
1/9 |
- |
3 |
10-89624227-CATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGG-C |
c.3_61del |
p.Met1_?21 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
1/9 |
- |
2 |
10-89624229-G-T |
c.3G>T |
p.Met1? |
Missense |
1/9 |
- |
3 |
10-89624234-CCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAG-AGTAATGTTAGCGGTTAGGCGTACGGCCAGGGCTATTGGTTGAATGAGTAGGCTGATGGTTTCGAT |
c.8_52delinsAGTAATGTTAGCGGTTAGGCGTACGGCCAGGGCTATTGGTTGAATGAGTAGGCTGATGGTTTCGAT |
p.Ala3_Glu18delinsGlu* |
MultiAAMissense |
1/9 |
- |
1 |
10-89624235-C-G |
c.9C>G |
p.Ala3Ala |
Synonymous |
1/9 |
- |
2 |
10-89624241-C-CT |
c.15_16insT |
p.Lys6* |
Nonsense |
1/9 |
- |
1 |
10-89624242-A-G |
c.16A>G |
p.Lys6Glu |
Missense |
1/9 |
- |
3 |
10-89624242-A-T |
c.16A>T |
p.Lys6* |
Nonsense |
1/9 |
- |
1 |
10-89624243-AAAGAGA-A |
c.17_22del |
p.Lys6_Glu7del |
InFrameDeletion |
1/9 |
- |
1 |
10-89624243-A-T |
c.17A>T |
p.Lys6Ile |
Missense |
1/9 |
- |
2 |
10-89624243-AAA-A |
c.17_18del |
p.Lys6Argfs*4 |
Frameshift |
1/9 |
- |
4 |
10-89624244-A-G |
c.18A>G |
p.Lys6Lys |
Synonymous |
1/9 |
- |
1 |
10-89624245-G-T |
c.19G>T |
p.Glu7* |
Nonsense |
1/9 |
- |
3 |
10-89624245-AGAG-A |
c.19_21del |
p.Glu7del |
InFrameDeletion |
1/9 |
- |
1 |
10-89624247-AGA-A |
c.21_22del |
p.Glu7Aspfs*3 |
Frameshift |
1/9 |
- |
1 |
10-89624253-TT-T |
c.27del |
p.Ser10Alafs*14 |
Frameshift |
1/9 |
- |
1 |
10-89624254-AG-GC |
c.28_29delinsGC |
p.Ser10Ala |
Missense |
1/9 |
- |
88 |
10-89624254-AG-GA |
c.28_29delinsGA |
p.Ser10Asp |
Missense |
1/9 |
- |
17 |
10-89624254-AG-CC |
c.28_29delinsCC |
p.Ser10Pro |
Missense |
1/9 |
- |
1 |
10-89624254-AG-CA |
c.28_29delinsCA |
p.Ser10His |
Missense |
1/9 |
- |
1 |
10-89624254-AG-CT |
c.28_29inv |
p.Ser10Leu |
Missense |
1/9 |
- |
1 |
10-89624254-A-T |
c.28A>T |
p.Ser10Cys |
Missense |
1/9 |
- |
37 |
10-89624254-A-G |
c.28A>G |
p.Ser10Gly |
Missense |
1/9 |
- |
5 |
10-89624254-AGC-GAG |
c.28_30delinsGAG |
p.Ser10Glu |
Missense |
1/9 |
- |
15 |
10-89624254-AG-TT |
c.28_29delinsTT |
p.Ser10Phe |
Missense |
1/9 |
- |
4 |
10-89624255-GC-TG |
c.29_30delinsTG |
p.Ser10Met |
Missense |
1/9 |
- |
2 |
10-89624255-G-T |
c.29G>T |
p.Ser10Ile |
Missense |
1/9 |
- |
3 |
10-89624255-GC-AG |
c.29_30delinsAG |
p.Ser10Lys |
Missense |
1/9 |
- |
3 |
10-89624255-G-A |
c.29G>A |
p.Ser10Asn |
Missense |
1/9 |
- |
6 |
10-89624256-C-CT |
c.30_31insT |
p.Arg11* |
Nonsense |
1/9 |
- |
1 |
10-89624256-GCAG-G |
c.30_32del |
p.Ser10del |
InFrameDeletion |
1/9 |
- |
1 |
10-89624257-AG-GC |
c.31_32delinsGC |
p.Arg11Ala |
Missense |
1/9 |
- |
4 |
10-89624257-A-T |
c.31A>T |
p.Arg11* |
Nonsense |
1/9 |
- |
1 |
10-89624261-A-C |
c.35A>C |
p.Asn12Thr |
Missense |
1/9 |
- |
1 |
10-89624263-A-C |
c.37A>C |
p.Lys13Gln |
Missense |
1/9 |
- |
2 |
10-89624263-AAA-TAT |
c.37_39delinsTAT |
p.Lys13Tyr |
Missense |
1/9 |
- |
1 |
10-89624263-A-G |
c.37A>G |
p.Lys13Glu |
Missense |
1/9 |
- |
23 |
10-89624263-A-T |
c.37A>T |
p.Lys13* |
Nonsense |
1/9 |
- |
1 |
10-89624263-AA-GC |
c.37_38delinsGC |
p.Lys13Ala |
Missense |
1/9 |
- |
12 |
10-89624264-A-G |
c.38A>G |
p.Lys13Arg |
Missense |
1/9 |
- |
12 |
10-89624265-A-G |
c.39A>G |
p.Lys13Lys |
Synonymous |
1/9 |
- |
1 |
10-89624265-A-AT |
c.39_40insT |
p.Arg14* |
Nonsense |
1/9 |
- |
1 |
10-89624266-AG-GC |
c.40_41delinsGC |
p.Arg14Ala |
Missense |
1/9 |
- |
9 |
10-89624266-AGG-TTT |
c.40_42delinsTTT |
p.Arg14Phe |
Missense |
1/9 |
- |
1 |
10-89624266-A-G |
c.40A>G |
p.Arg14Gly |
Missense |
1/9 |
- |
3 |
10-89624268-G-A |
c.42G>A |
p.Arg14Arg |
Synonymous |
1/9 |
- |
1 |
10-89624268-G-C |
c.42G>C |
p.Arg14Ser |
Missense |
1/9 |
- |
3 |
10-89624268-G-T |
c.42G>T |
p.Arg14Ser |
Missense |
1/9 |
- |
3 |
10-89624266-A-C |
c.40A>C |
p.Arg14Arg |
Synonymous |
1/9 |
- |
1 |
10-89624269-AG-GC |
c.43_44delinsGC |
p.Arg15Ala |
Missense |
1/9 |
- |
9 |
10-89624269-GA-G |
c.43del |
p.Arg15Aspfs*9 |
Frameshift |
1/9 |
- |
2 |
10-89624269-AG-CA |
c.43_44delinsCA |
p.Arg15Gln |
Missense |
1/9 |
- |
1 |
10-89624269-A-G |
c.43A>G |
p.Arg15Gly |
Missense |
1/9 |
- |
2 |
10-89624270-G-A |
c.44G>A |
p.Arg15Lys |
Missense |
1/9 |
- |
4 |
10-89624271-A-T |
c.45A>T |
p.Arg15Ser |
Missense |
1/9 |
- |
9 |
10-89624271-A-C |
c.45A>C |
p.Arg15Ser |
Missense |
1/9 |
- |
9 |
10-89624272-TA-GC |
c.46_47delinsGC |
p.Tyr16Ala |
Missense |
1/9 |
- |
2 |
10-89624272-T-C |
c.46T>C |
p.Tyr16His |
Missense |
1/9 |
- |
1 |
10-89624272-T-TT |
c.46dup |
p.Tyr16Leufs*28 |
Frameshift |
1/9 |
- |
1 |
10-89624273-A-G |
c.47A>G |
p.Tyr16Cys |
Missense |
1/9 |
- |
3 |
10-89624274-T-A |
c.48T>A |
p.Tyr16* |
Nonsense |
1/9 |
- |
10 |
10-89624275-C-T |
c.49C>T |
p.Gln17* |
Nonsense |
1/9 |
- |
10 |
10-89624275-C-G |
c.49C>G |
p.Gln17Glu |
Missense |
1/9 |
- |
3 |
10-89624275-CA-GC |
c.49_50delinsGC |
p.Gln17Ala |
Missense |
1/9 |
- |
2 |
10-89624276-A-G |
c.50A>G |
p.Gln17Arg |
Missense |
1/9 |
- |
3 |
10-89624276-CAA-C |
c.50_51del |
p.Gln17Argfs*26 |
Frameshift |
1/9 |
- |
1 |
10-89624276-A-C |
c.50A>C |
p.Gln17Pro |
Missense |
1/9 |
- |
1 |
10-89624278-GAG-TGT |
c.52_54delinsTGT |
p.Glu18Cys |
Missense |
1/9 |
- |
1 |
10-89624281-G-T |
c.55G>T |
p.Asp19Tyr |
Missense |
1/9 |
- |
1 |
10-89624281-G-A |
c.55G>A |
p.Asp19Asn |
Missense |
1/9 |
- |
1 |
10-89624285-G-A |
c.59G>A |
p.Gly20Glu |
Missense |
1/9 |
- |
5 |
10-89624285-G-T |
c.59G>T |
p.Gly20Val |
Missense |
1/9 |
- |
3 |
10-89624287-TT-GC |
c.61_62delinsGC |
p.Phe21Ala |
Missense |
1/9 |
- |
4 |
10-89624291-A-G |
c.65A>G |
p.Asp22Gly |
Missense |
1/9 |
- |
1 |
10-89624291-A-C |
c.65A>C |
p.Asp22Ala |
Missense |
1/9 |
- |
2 |
10-89624292-C-G |
c.66C>G |
p.Asp22Glu |
Missense |
1/9 |
- |
7 |
10-89624293-TT-CC |
c.67_68delinsCC |
p.Leu23Pro |
Missense |
1/9 |
- |
1 |
10-89624293-TT-GC |
c.67_68delinsGC |
p.Leu23Ala |
Missense |
1/9 |
- |
4 |
10-89624294-T-A |
c.68T>A |
p.Leu23* |
Nonsense |
1/9 |
- |
1 |
10-89624294-T-TG |
c.68_69insG |
p.Asp24Argfs*20 |
Frameshift |
1/9 |
- |
1 |
10-89624295-A-C |
c.69A>C |
p.Leu23Phe |
Missense |
1/9 |
- |
4 |
10-89624295-A-AA |
c.69dup |
p.Asp24Argfs*20 |
Frameshift |
1/9 |
- |
1 |
10-89624296-G-C |
c.70G>C |
p.Asp24His |
Missense |
1/9 |
- |
4 |
10-89624296-G-T |
c.70G>T |
p.Asp24Tyr |
Missense |
1/9 |
- |
8 |
10-89624296-G-A |
c.70G>A |
p.Asp24Asn |
Missense |
1/9 |
- |
2 |
10-89624297-A-C |
c.71A>C |
p.Asp24Ala |
Missense |
1/9 |
- |
2 |
10-89624297-A-G |
c.71A>G |
p.Asp24Gly |
Missense |
1/9 |
- |
9 |
10-89624297-A-T |
c.71A>T |
p.Asp24Val |
Missense |
1/9 |
- |
2 |
10-89624298-C-A |
c.72C>A |
p.Asp24Glu |
Missense |
1/9 |
- |
1 |
10-89624298-C-CAGA |
c.72_73insAGA |
p.Asp24_Leu25insArg |
InFrameInsertion |
1/9 |
- |
1 |
10-89624298-C-G |
c.72C>G |
p.Asp24Glu |
Missense |
1/9 |
- |
1 |
10-89624299-TT-GC |
c.73_74delinsGC |
p.Leu25Ala |
Missense |
1/9 |
- |
2 |
10-89624299-CTT-C |
c.73_74del |
p.Leu25Aspfs*18 |
Frameshift |
1/9 |
- |
1 |
10-89624300-T-TT |
c.74dup |
p.Leu25Phefs*19 |
Frameshift |
1/9 |
- |
1 |
10-89624300-T-G |
c.74T>G |
p.Leu25Trp |
Missense |
1/9 |
- |
1 |
10-89624300-T-C |
c.74T>C |
p.Leu25Ser |
Missense |
1/9 |
- |
1 |
10-89624301-G-T |
c.75G>T |
p.Leu25Phe |
Missense |
1/9 |
- |
1 |
10-89624301-G-A |
c.75G>A |
p.Leu25Leu |
Synonymous |
1/9 |
- |
1 |
10-89624302-A-G |
c.76A>G |
p.Thr26Ala |
Missense |
1/9 |
- |
2 |
10-89624302-A-C |
c.76A>C |
p.Thr26Pro |
Missense |
1/9 |
- |
4 |
10-89624304-C-A |
c.78C>A |
p.Thr26Thr |
Synonymous |
1/9 |
- |
1 |
10-89624304-C-T |
c.78C>T |
p.Thr26Thr |
Synonymous |
1/9 |
- |
1 |
10-89624304-C-G |
c.78C>G |
p.Thr26Thr |
Synonymous |
1/9 |
- |
1 |
10-89624305-T-A |
c.79T>A |
p.Tyr27Asn |
Missense |
1/9 |
- |
3 |
10-89624305-T-G |
c.79T>G |
p.Tyr27Asp |
Missense |
1/9 |
- |
1 |
10-89624306-G-C |
c.79+1G>C |
- |
IntronicSNV |
- |
1/8 |
1 |
10-89624312-A-G |
c.79+7A>G |
- |
IntronicSNV |
- |
1/8 |
1 |
10-89624340-C-T |
c.79+35C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
10-89633231-C-T |
c.79+8926C>T |
- |
IntronicSNV |
- |
1/8 |
1 |
10-89639962-G-A |
c.80-13820G>A |
- |
IntronicSNV |
- |
1/8 |
3 |
10-89639962-G-T |
c.80-13820G>T |
- |
IntronicSNV |
- |
1/8 |
3 |
10-89642609-A-G |
c.80-11173A>G |
- |
IntronicSNV |
- |
1/8 |
2 |
10-89645473-A-G |
c.80-8309A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
10-89647154-G-A |
c.80-6628G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
10-89649577-A-G |
c.80-4205A>G |
- |
IntronicSNV |
- |
1/8 |
4 |
10-89649838-G-A |
c.80-3944G>A |
- |
IntronicSNV |
- |
1/8 |
1 |
10-89650759-C-T |
c.80-3023C>T |
- |
IntronicSNV |
- |
1/8 |
2 |
10-89652826-TTTGACTCCCCAAAACTTAATATTTAGCCTATACTTGACTAGAAGTCTTACTGATGACAT-T |
c.80-956_80-898del |
- |
IntronicDeletion |
- |
1/8 |
1 |
10-89653686-A-G |
c.80-96A>G |
- |
IntronicSNV |
- |
1/8 |
15 |
10-89653781-G-C |
c.80-1G>C |
- |
IntronicSNV |
- |
1/8 |
2 |
10-89653782-A-G |
c.80A>G |
p.Tyr27Cys |
Missense |
2/9 |
- |
8 |
10-89653782-A-C |
c.80A>C |
p.Tyr27Ser |
Missense |
2/9 |
- |
1 |
10-89653782-GATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATAC-G |
c.81_139del |
p.Tyr27* |
Unclassified |
2/9 |
- |
2 |
10-89653785-T-C |
c.83T>C |
p.Ile28Thr |
Missense |
2/9 |
- |
2 |
10-89653787-TA-GC |
c.85_86delinsGC |
p.Tyr29Ala |
Missense |
2/9 |
- |
2 |
10-89653788-A-G |
c.86A>G |
p.Tyr29Cys |
Missense |
2/9 |
- |
1 |
10-89653789-T-A |
c.87T>A |
p.Tyr29* |
Nonsense |
2/9 |
- |
2 |
10-89653794-A-G |
c.92A>G |
p.Asn31Ser |
Missense |
2/9 |
- |
1 |
10-89653797-T-A |
c.95T>A |
p.Ile32Asn |
Missense |
2/9 |
- |
1 |
10-89653799-ATT-TAA |
c.97_99delinsTAA |
p.Ile33* |
Nonsense |
2/9 |
- |
1 |
10-89653799-TATT-T |
c.97_99del |
p.Ile33del |
InFrameDeletion |
2/9 |
- |
2 |
10-89653800-T-G |
c.98T>G |
p.Ile33Ser |
Missense |
2/9 |
- |
2 |
10-89653802-G-A |
c.100G>A |
p.Ala34Thr |
Missense |
2/9 |
- |
1 |
10-89653802-GC-TG |
c.100_101delinsTG |
p.Ala34Cys |
Missense |
2/9 |
- |
1 |
10-89653802-GC-TT |
c.100_101delinsTT |
p.Ala34Phe |
Missense |
2/9 |
- |
1 |
10-89653803-C-A |
c.101C>A |
p.Ala34Asp |
Missense |
2/9 |
- |
6 |
10-89653805-A-G |
c.103A>G |
p.Met35Val |
Missense |
2/9 |
- |
5 |
10-89653805-AT-GC |
c.103_104delinsGC |
p.Met35Ala |
Missense |
2/9 |
- |
3 |
10-89653806-T-C |
c.104T>C |
p.Met35Thr |
Missense |
2/9 |
- |
2 |
10-89653807-G-T |
c.105G>T |
p.Met35Ile |
Missense |
2/9 |
- |
3 |
10-89653808-G-A |
c.106G>A |
p.Gly36Arg |
Missense |
2/9 |
- |
6 |
10-89653808-G-C |
c.106G>C |
p.Gly36Arg |
Missense |
2/9 |
- |
6 |
10-89653809-G-A |
c.107G>A |
p.Gly36Glu |
Missense |
2/9 |
- |
3 |
10-89653812-T-C |
c.110T>C |
p.Phe37Ser |
Missense |
2/9 |
- |
1 |
10-89653814-CCT-AAG |
c.112_114delinsAAG |
p.Pro38Lys |
Missense |
2/9 |
- |
1 |
10-89653814-C-T |
c.112C>T |
p.Pro38Ser |
Missense |
2/9 |
- |
6 |
10-89653814-C-G |
c.112C>G |
p.Pro38Ala |
Missense |
2/9 |
- |
7 |
10-89653814-CC-AT |
c.112_113delinsAT |
p.Pro38Ile |
Missense |
2/9 |
- |
2 |
10-89653815-C-A |
c.113C>A |
p.Pro38His |
Missense |
2/9 |
- |
5 |
10-89653817-G-A |
c.115G>A |
p.Ala39Thr |
Missense |
2/9 |
- |
1 |
10-89653820-G-A |
c.118G>A |
p.Glu40Lys |
Missense |
2/9 |
- |
9 |
10-89653823-A-G |
c.121A>G |
p.Arg41Gly |
Missense |
2/9 |
- |
3 |
10-89653823-AGA-GAC |
c.121_123delinsGAC |
p.Arg41Asp |
Missense |
2/9 |
- |
2 |
10-89653827-T-G |
c.125T>G |
p.Leu42Arg |
Missense |
2/9 |
- |
8 |
10-89653829-G-C |
c.127G>C |
p.Glu43Gln |
Missense |
2/9 |
- |
1 |
10-89653833-G-A |
c.131G>A |
p.Gly44Asp |
Missense |
2/9 |
- |
5 |
10-89653833-G-T |
c.131G>T |
p.Gly44Val |
Missense |
2/9 |
- |
1 |
10-89653834-C-T |
c.132C>T |
p.Gly44Gly |
Synonymous |
2/9 |
- |
4 |
10-89653835-GTA-TTT |
c.133_135delinsTTT |
p.Val45Phe |
Missense |
2/9 |
- |
1 |
10-89653835-GT-CA |
c.133_134delinsCA |
p.Val45Gln |
Missense |
2/9 |
- |
1 |
10-89653838-T-C |
c.136T>C |
p.Tyr46His |
Missense |
2/9 |
- |
2 |
10-89653838-TAC-CAA |
c.136_138delinsCAA |
p.Tyr46Gln |
Missense |
2/9 |
- |
1 |
10-89653839-A-G |
c.137A>G |
p.Tyr46Cys |
Missense |
2/9 |
- |
1 |
10-89653840-C-A |
c.138C>A |
p.Tyr46* |
Nonsense |
2/9 |
- |
1 |
10-89653841-AGG-GAC |
c.139_141delinsGAC |
p.Arg47Asp |
Missense |
2/9 |
- |
1 |
10-89653841-AGG-CAT |
c.139_141delinsCAT |
p.Arg47His |
Missense |
2/9 |
- |
1 |
10-89653841-A-G |
c.139A>G |
p.Arg47Gly |
Missense |
2/9 |
- |
3 |
10-89653841-AG-GC |
c.139_140delinsGC |
p.Arg47Ala |
Missense |
2/9 |
- |
3 |
10-89653841-A-T |
c.139A>T |
p.Arg47Trp |
Missense |
2/9 |
- |
3 |
10-89653841-AG-CT |
c.139_140inv |
p.Arg47Leu |
Missense |
2/9 |
- |
2 |
10-89653841-AG-TA |
c.139_140delinsTA |
p.Arg47* |
Nonsense |
2/9 |
- |
1 |
10-89653842-G-A |
c.140G>A |
p.Arg47Lys |
Missense |
2/9 |
- |
4 |
10-89653843-G-T |
c.141G>T |
p.Arg47Ser |
Missense |
2/9 |
- |
3 |
10-89653843-GG-G |
c.141del |
p.Asn48Thrfs*6 |
Frameshift |
2/9 |
- |
2 |
10-89653843-G-C |
c.141G>C |
p.Arg47Ser |
Missense |
2/9 |
- |
3 |
10-89653844-AAC-TAA |
c.142_144delinsTAA |
p.Asn48* |
Nonsense |
2/9 |
- |
1 |
10-89653845-A-T |
c.143A>T |
p.Asn48Ile |
Missense |
2/9 |
- |
1 |
10-89653845-AC-GG |
c.143_144delinsGG |
p.Asn48Arg |
Missense |
2/9 |
- |
1 |
10-89653845-AA-A |
c.143del |
p.Asn48Thrfs*6 |
Frameshift |
2/9 |
- |
1 |
10-89653846-C-G |
c.144C>G |
p.Asn48Lys |
Missense |
2/9 |
- |
4 |
10-89653846-C-A |
c.144C>A |
p.Asn48Lys |
Missense |
2/9 |
- |
4 |
10-89653848-A-G |
c.146A>G |
p.Asn49Ser |
Missense |
2/9 |
- |
1 |
10-89653848-A-T |
c.146A>T |
p.Asn49Ile |
Missense |
2/9 |
- |
1 |
10-89653848-AATATTGAT-A |
c.146_153del |
p.Asn49Argfs*11 |
Frameshift |
2/9 |
- |
1 |
10-89653850-AT-GC |
c.148_149delinsGC |
p.Ile50Ala |
Missense |
2/9 |
- |
1 |
10-89653851-T-C |
c.149T>C |
p.Ile50Thr |
Missense |
2/9 |
- |
3 |
10-89653852-TT-T |
c.150del |
p.Ile50Metfs*4 |
Frameshift |
2/9 |
- |
1 |
10-89653854-A-C |
c.152A>C |
p.Asp51Ala |
Missense |
2/9 |
- |
1 |
10-89653854-A-G |
c.152A>G |
p.Asp51Gly |
Missense |
2/9 |
- |
1 |
10-89653855-T-A |
c.153T>A |
p.Asp51Glu |
Missense |
2/9 |
- |
1 |
10-89653855-T-G |
c.153T>G |
p.Asp51Glu |
Missense |
2/9 |
- |
1 |
10-89653856-G-A |
c.154G>A |
p.Asp52Asn |
Missense |
2/9 |
- |
1 |
10-89653857-GATG-G |
c.155_157del |
p.Asp52del |
InFrameDeletion |
2/9 |
- |
1 |
10-89653857-A-C |
c.155A>C |
p.Asp52Ala |
Missense |
2/9 |
- |
2 |
10-89653858-T-G |
c.156T>G |
p.Asp52Glu |
Missense |
2/9 |
- |
2 |
10-89653858-T-A |
c.156T>A |
p.Asp52Glu |
Missense |
2/9 |
- |
2 |
10-89653861-A-ATACA |
c.159_160insTACA |
p.Val54Tyrfs*10 |
Frameshift |
2/9 |
- |
1 |
10-89653862-AGTA-A |
c.160_162del |
p.Val54del |
InFrameDeletion |
2/9 |
- |
1 |
10-89653862-G-A |
c.160G>A |
p.Val54Ile |
Missense |
2/9 |
- |
1 |
10-89653864-A-T |
c.162A>T |
p.Val54Val |
Synonymous |
2/9 |
- |
1 |
10-89653864-A-G |
c.162A>G |
p.Val54Val |
Synonymous |
2/9 |
- |
1 |
10-89653864-A-AT |
c.162_163insT |
p.Arg55* |
SpliceDonorInsertion |
2/9 |
- |
3 |
10-89653864-A-C |
c.162A>C |
p.Val54Val |
Synonymous |
2/9 |
- |
1 |
10-89653865-A-G |
c.163A>G |
p.Arg55Gly |
Missense |
2/9 |
- |
1 |
10-89653866-G-A |
c.164G>A |
p.Arg55Lys |
Missense |
2/9 |
- |
1 |
10-89653867-G-A |
c.164+1G>A |
- |
IntronicSNV |
- |
2/8 |
2 |
10-89654089-T-C |
c.164+223T>C |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89655236-A-G |
c.164+1370A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89655247-AA-AAAA |
c.164+1381_164+1382dup |
- |
IntronicInsertion |
- |
2/8 |
1 |
10-89655248-A-AA |
c.164+1382dup |
- |
IntronicInsertion |
- |
2/8 |
1 |
10-89657150-C-T |
c.164+3284C>T |
- |
IntronicSNV |
- |
2/8 |
16 |
10-89657150-C-A |
c.164+3284C>A |
- |
IntronicSNV |
- |
2/8 |
16 |
10-89665190-A-C |
c.164+11324A>C |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89665190-A-T |
c.164+11324A>T |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89665512-G-A |
c.164+11646G>A |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89673569-C-T |
c.165-11701C>T |
- |
IntronicSNV |
- |
2/8 |
2 |
10-89674157-T-G |
c.165-11113T>G |
- |
IntronicSNV |
- |
2/8 |
8 |
10-89675296-A-G |
c.165-9974A>G |
- |
IntronicSNV |
- |
2/8 |
7 |
10-89675590-G-C |
c.165-9680G>C |
- |
IntronicSNV |
- |
2/8 |
2 |
10-89677107-A-T |
c.165-8163A>T |
- |
IntronicSNV |
- |
2/8 |
2 |
10-89677107-A-G |
c.165-8163A>G |
- |
IntronicSNV |
- |
2/8 |
2 |
10-89677387-T-C |
c.165-7883T>C |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89678296-A-G |
c.165-6974A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89682833-G-T |
c.165-2437G>T |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89682833-G-C |
c.165-2437G>C |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89682833-G-A |
c.165-2437G>A |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89685257-TGTTT-T |
c.165-13_165-10del |
- |
IntronicDeletion |
- |
2/8 |
1 |
10-89685268-A-G |
c.165-2A>G |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89685269-G-A |
c.165-1G>A |
- |
IntronicSNV |
- |
2/8 |
1 |
10-89685270-G-GG |
c.165dup |
p.Phe56Valfs*7 |
SpliceAcceptorInsertion |
3/9 |
- |
2 |
10-89685270-G-C |
c.165G>C |
p.Arg55Ser |
Missense |
3/9 |
- |
1 |
10-89685270-GGTTTTTGGATTCAAAGCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTC-G |
c.165_209+14del |
- |
Multi:SpliceAcceptorDeletion,CdsStopDeletion |
3/9 |
3/8 |
2 |
10-89685270-G-T |
c.165G>T |
p.Arg55Ser |
Missense |
3/9 |
- |
1 |
10-89685271-T-G |
c.166T>G |
p.Phe56Val |
Missense |
3/9 |
- |
2 |
10-89685273-T-G |
c.168T>G |
p.Phe56Leu |
Missense |
3/9 |
- |
1 |
10-89685273-T-A |
c.168T>A |
p.Phe56Leu |
Missense |
3/9 |
- |
1 |
10-89685271-T-A |
c.166T>A |
p.Phe56Ile |
Missense |
3/9 |
- |
1 |
10-89685271-T-C |
c.166T>C |
p.Phe56Leu |
Missense |
3/9 |
- |
1 |
10-89685272-TT-AA |
c.167_168inv |
p.Phe56* |
Nonsense |
3/9 |
- |
1 |
10-89685274-TTG-AAC |
c.169_171delinsAAC |
p.Leu57Asn |
Missense |
3/9 |
- |
1 |
10-89685275-T-C |
c.170T>C |
p.Leu57Ser |
Missense |
3/9 |
- |
3 |
10-89685275-T-G |
c.170T>G |
p.Leu57Trp |
Missense |
3/9 |
- |
1 |
10-89685275-T-TT |
c.170dup |
p.Leu57Phefs*6 |
Frameshift |
3/9 |
- |
1 |
10-89685278-A-C |
c.173A>C |
p.Asp58Ala |
Missense |
3/9 |
- |
1 |
10-89685280-TC-GA |
c.175_176inv |
p.Ser59Glu |
Missense |
3/9 |
- |
1 |
10-89685281-C-A |
c.176C>A |
p.Ser59* |
Nonsense |
3/9 |
- |
5 |
10-89685281-C-G |
c.176C>G |
p.Ser59* |
Nonsense |
3/9 |
- |
4 |
10-89685282-A-G |
c.177A>G |
p.Ser59Ser |
Synonymous |
3/9 |
- |
1 |
10-89685283-AA-GC |
c.178_179delinsGC |
p.Lys60Ala |
Missense |
3/9 |
- |
1 |
10-89685284-A-G |
c.179A>G |
p.Lys60Arg |
Missense |
3/9 |
- |
2 |
10-89685285-G-T |
c.180G>T |
p.Lys60Asn |
Missense |
3/9 |
- |
1 |
10-89685286-CA-GC |
c.181_182delinsGC |
p.His61Ala |
Missense |
3/9 |
- |
1 |
10-89685286-C-T |
c.181C>T |
p.His61Tyr |
Missense |
3/9 |
- |
1 |
10-89685286-C-G |
c.181C>G |
p.His61Asp |
Missense |
3/9 |
- |
2 |
10-89685287-A-G |
c.182A>G |
p.His61Arg |
Missense |
3/9 |
- |
7 |
10-89685288-T-G |
c.183T>G |
p.His61Gln |
Missense |
3/9 |
- |
2 |
10-89685288-T-A |
c.183T>A |
p.His61Gln |
Missense |
3/9 |
- |
2 |
10-89685289-AA-GC |
c.184_185delinsGC |
p.Lys62Ala |
Missense |
3/9 |
- |
1 |
10-89685289-A-T |
c.184A>T |
p.Lys62* |
Nonsense |
3/9 |
- |
1 |
10-89685290-A-G |
c.185A>G |
p.Lys62Arg |
Missense |
3/9 |
- |
6 |
10-89685291-A-T |
c.186A>T |
p.Lys62Asn |
Missense |
3/9 |
- |
1 |
10-89685291-A-C |
c.186A>C |
p.Lys62Asn |
Missense |
3/9 |
- |
1 |
10-89685292-AA-GC |
c.187_188delinsGC |
p.Asn63Ala |
Missense |
3/9 |
- |
1 |
10-89685299-A-G |
c.194A>G |
p.Tyr65Cys |
Missense |
3/9 |
- |
7 |
10-89685300-C-A |
c.195C>A |
p.Tyr65* |
Nonsense |
3/9 |
- |
2 |
10-89685301-A-G |
c.196A>G |
p.Lys66Glu |
Missense |
3/9 |
- |
2 |
10-89685302-A-G |
c.197A>G |
p.Lys66Arg |
Missense |
3/9 |
- |
2 |
10-89685303-G-A |
c.198G>A |
p.Lys66Lys |
Synonymous |
3/9 |
- |
1 |
10-89685305-T-G |
c.200T>G |
p.Ile67Arg |
Missense |
3/9 |
- |
1 |
10-89685306-A-C |
c.201A>C |
p.Ile67Ile |
Synonymous |
3/9 |
- |
3 |
10-89685306-A-T |
c.201A>T |
p.Ile67Ile |
Synonymous |
3/9 |
- |
3 |
10-89685306-A-G |
c.201A>G |
p.Ile67Met |
Missense |
3/9 |
- |
1 |
10-89685307-TA-CG |
c.202_203delinsCG |
p.Tyr68Arg |
Missense |
3/9 |
- |
1 |
10-89685307-T-G |
c.202T>G |
p.Tyr68Asp |
Missense |
3/9 |
- |
1 |
10-89685307-T-C |
c.202T>C |
p.Tyr68His |
Missense |
3/9 |
- |
13 |
10-89685307-T-A |
c.202T>A |
p.Tyr68Asn |
Missense |
3/9 |
- |
2 |
10-89685308-A-G |
c.203A>G |
p.Tyr68Cys |
Missense |
3/9 |
- |
6 |
10-89685308-A-T |
c.203A>T |
p.Tyr68Phe |
Missense |
3/9 |
- |
2 |
10-89685309-C-G |
c.204C>G |
p.Tyr68* |
Nonsense |
3/9 |
- |
2 |
10-89685309-C-A |
c.204C>A |
p.Tyr68* |
Nonsense |
3/9 |
- |
2 |
10-89685310-A-G |
c.205A>G |
p.Asn69Asp |
Missense |
3/9 |
- |
2 |
10-89685310-AA-GC |
c.205_206delinsGC |
p.Asn69Ala |
Missense |
3/9 |
- |
1 |
10-89685313-C-A |
c.208C>A |
p.Leu70Ile |
Missense |
3/9 |
- |
1 |
10-89685313-CT-GC |
c.208_209delinsGC |
p.Leu70Ala |
Missense |
3/9 |
- |
1 |
10-89685313-C-G |
c.208C>G |
p.Leu70Val |
Missense |
3/9 |
- |
6 |
10-89685313-TCTG-T |
c.208_209+1del |
- |
SpliceDonorDeletion |
3/9 |
3/8 |
1 |
10-89685314-T-C |
c.209T>C |
p.Leu70Pro |
Missense |
3/9 |
- |
2 |
10-89685315-G-C |
c.209+1G>C |
- |
IntronicSNV |
- |
3/8 |
1 |
10-89685315-TG-T |
c.209+1del |
- |
IntronicDeletion |
- |
3/8 |
1 |
10-89685317-A-T |
c.209+3A>T |
- |
IntronicSNV |
- |
3/8 |
1 |
10-89685318-AAGTA-A |
c.209+4_209+7del |
- |
IntronicDeletion |
- |
3/8 |
3 |
10-89685319-G-A |
c.209+5G>A |
- |
IntronicSNV |
- |
3/8 |
4 |
10-89685643-T-C |
c.209+329T>C |
- |
IntronicSNV |
- |
3/8 |
6 |
10-89686509-G-T |
c.209+1195G>T |
- |
IntronicSNV |
- |
3/8 |
3 |
10-89689321-G-A |
c.210-1482G>A |
- |
IntronicSNV |
- |
3/8 |
4 |
10-89690789-A-G |
c.210-14A>G |
- |
IntronicSNV |
- |
3/8 |
1 |
10-89690796-TCTTTT-T |
c.210-7_210-3del |
- |
IntronicDeletion |
- |
3/8 |
1 |
10-89690801-TAGTT-T |
c.210-2_211del |
- |
SpliceAcceptorDeletion |
4/9 |
3/8 |
1 |
10-89690801-A-G |
c.210-2A>G |
- |
IntronicSNV |
- |
3/8 |
1 |
10-89690802-G-A |
c.210-1G>A |
- |
IntronicSNV |
- |
3/8 |
1 |
10-89690804-TG-GC |
c.211_212delinsGC |
p.Cys71Ala |
Missense |
4/9 |
- |
3 |
10-89690804-T-G |
c.211T>G |
p.Cys71Gly |
Missense |
4/9 |
- |
1 |
10-89690805-G-C |
c.212G>C |
p.Cys71Ser |
Missense |
4/9 |
- |
5 |
10-89690804-T-A |
c.211T>A |
p.Cys71Ser |
Missense |
4/9 |
- |
5 |
10-89690804-TT-T |
c.211del |
p.Cys71Valfs*28 |
Frameshift |
4/9 |
- |
1 |
10-89690805-G-T |
c.212G>T |
p.Cys71Phe |
Missense |
4/9 |
- |
1 |
10-89690805-G-A |
c.212G>A |
p.Cys71Tyr |
Missense |
4/9 |
- |
1 |
10-89690806-T-G |
c.213T>G |
p.Cys71Trp |
Missense |
4/9 |
- |
1 |
10-89690808-C-G |
c.215C>G |
p.Ala72Gly |
Missense |
4/9 |
- |
1 |
10-89690808-C-A |
c.215C>A |
p.Ala72Asp |
Missense |
4/9 |
- |
1 |
10-89690810-GA-AG |
c.217_218delinsAG |
p.Glu73Arg |
Missense |
4/9 |
- |
1 |
10-89690810-GA-AT |
c.217_218delinsAT |
p.Glu73Ile |
Missense |
4/9 |
- |
1 |
10-89690810-G-C |
c.217G>C |
p.Glu73Gln |
Missense |
4/9 |
- |
1 |
10-89690810-G-T |
c.217G>T |
p.Glu73* |
Nonsense |
4/9 |
- |
1 |
10-89690811-A-C |
c.218A>C |
p.Glu73Ala |
Missense |
4/9 |
- |
1 |
10-89690812-A-T |
c.219A>T |
p.Glu73Asp |
Missense |
4/9 |
- |
3 |
10-89690812-A-C |
c.219A>C |
p.Glu73Asp |
Missense |
4/9 |
- |
3 |
10-89690813-A-T |
c.220A>T |
p.Arg74* |
Nonsense |
4/9 |
- |
1 |
10-89690813-AA-A |
c.220del |
p.Arg74Aspfs*25 |
Frameshift |
4/9 |
- |
1 |
10-89690813-AGA-GAC |
c.220_222delinsGAC |
p.Arg74Asp |
Missense |
4/9 |
- |
2 |
10-89690813-AG-GA |
c.220_221delinsGA |
p.Arg74Glu |
Missense |
4/9 |
- |
1 |
10-89690813-AG-GC |
c.220_221delinsGC |
p.Arg74Ala |
Missense |
4/9 |
- |
1 |
10-89690813-AGA-TGT |
c.220_222delinsTGT |
p.Arg74Cys |
Missense |
4/9 |
- |
1 |
10-89690814-G-T |
c.221G>T |
p.Arg74Ile |
Missense |
4/9 |
- |
1 |
10-89690814-AGACATTA-A |
c.221_227del |
p.Arg74Metfs*23 |
Frameshift |
4/9 |
- |
1 |
10-89690816-ACA-A |
c.223_224del |
p.His75Leufs*2 |
Frameshift |
4/9 |
- |
1 |
10-89690819-TTAT-T |
c.226_228del |
p.Tyr76del |
InFrameDeletion |
4/9 |
- |
1 |
10-89690821-T-G |
c.228T>G |
p.Tyr76* |
Nonsense |
4/9 |
- |
3 |
10-89690821-T-A |
c.228T>A |
p.Tyr76* |
Nonsense |
4/9 |
- |
3 |
10-89690823-A-T |
c.230A>T |
p.Asp77Val |
Missense |
4/9 |
- |
1 |
10-89690825-A-G |
c.232A>G |
p.Thr78Ala |
Missense |
4/9 |
- |
4 |
10-89690827-C-T |
c.234C>T |
p.Thr78Thr |
Synonymous |
4/9 |
- |
3 |
10-89690828-G-T |
c.235G>T |
p.Ala79Ser |
Missense |
4/9 |
- |
1 |
10-89690828-G-A |
c.235G>A |
p.Ala79Thr |
Missense |
4/9 |
- |
11 |
10-89690829-C-A |
c.236C>A |
p.Ala79Asp |
Missense |
4/9 |
- |
1 |
10-89690829-C-T |
c.236C>T |
p.Ala79Val |
Missense |
4/9 |
- |
1 |
10-89690829-CC-AG |
c.236_237delinsAG |
p.Ala79Glu |
Missense |
4/9 |
- |
1 |
10-89690831-AA-GC |
c.238_239delinsGC |
p.Lys80Ala |
Missense |
4/9 |
- |
1 |
10-89690831-A-T |
c.238A>T |
p.Lys80* |
Nonsense |
4/9 |
- |
1 |
10-89690831-A-G |
c.238A>G |
p.Lys80Glu |
Missense |
4/9 |
- |
1 |
10-89690832-A-G |
c.239A>G |
p.Lys80Arg |
Missense |
4/9 |
- |
3 |
10-89690833-A-G |
c.240A>G |
p.Lys80Lys |
Synonymous |
4/9 |
- |
1 |
10-89690838-A-C |
c.245A>C |
p.Asn82Thr |
Missense |
4/9 |
- |
1 |
10-89690838-AT-GG |
c.245_246delinsGG |
p.Asn82Arg |
Missense |
4/9 |
- |
1 |
10-89690838-A-AA |
c.245dup |
p.Asn82Lysfs*10 |
Frameshift |
4/9 |
- |
1 |
10-89690840-TG-GC |
c.247_248delinsGC |
p.Cys83Ala |
Missense |
4/9 |
- |
3 |
10-89690841-G-C |
c.248G>C |
p.Cys83Ser |
Missense |
4/9 |
- |
7 |
10-89690840-T-A |
c.247T>A |
p.Cys83Ser |
Missense |
4/9 |
- |
7 |
10-89690841-G-T |
c.248G>T |
p.Cys83Phe |
Missense |
4/9 |
- |
1 |
10-89690842-C-A |
c.249C>A |
p.Cys83* |
Nonsense |
4/9 |
- |
3 |
10-89690843-A-G |
c.250A>G |
p.Arg84Gly |
Missense |
4/9 |
- |
1 |
10-89690844-G-A |
c.251G>A |
p.Arg84Lys |
Missense |
4/9 |
- |
1 |
10-89690845-A-G |
c.252A>G |
p.Arg84Arg |
Synonymous |
4/9 |
- |
1 |
10-89690846-G-T |
c.253G>T |
p.Val85Phe |
Missense |
4/9 |
- |
2 |
10-89690847-G-A |
c.253+1G>A |
- |
IntronicSNV |
- |
4/8 |
1 |
10-89690847-G-T |
c.253+1G>T |
- |
IntronicSNV |
- |
4/8 |
4 |
10-89690851-G-T |
c.253+5G>T |
- |
IntronicSNV |
- |
4/8 |
2 |
10-89690851-G-A |
c.253+5G>A |
- |
IntronicSNV |
- |
4/8 |
1 |
10-89690955-A-ATCTT |
c.253+109_253+110insTCTT |
- |
IntronicInsertion |
- |
4/8 |
1 |
10-89692770-GTT-G |
c.254_255del |
p.Val85Glyfs*6 |
SpliceAcceptorDeletion |
5/9 |
- |
1 |
10-89692772-G-C |
c.256G>C |
p.Ala86Pro |
Missense |
5/9 |
- |
1 |
10-89692773-C-A |
c.257C>A |
p.Ala86Glu |
Missense |
5/9 |
- |
2 |
10-89692775-C-T |
c.259C>T |
p.Gln87* |
Nonsense |
5/9 |
- |
8 |
10-89692776-A-C |
c.260A>C |
p.Gln87Pro |
Missense |
5/9 |
- |
2 |
10-89692778-T-C |
c.262T>C |
p.Tyr88His |
Missense |
5/9 |
- |
2 |
10-89692779-A-G |
c.263A>G |
p.Tyr88Cys |
Missense |
5/9 |
- |
6 |
10-89692780-T-A |
c.264T>A |
p.Tyr88* |
Nonsense |
5/9 |
- |
1 |
10-89692780-T-G |
c.264T>G |
p.Tyr88* |
Nonsense |
5/9 |
- |
1 |
10-89692781-C-A |
c.265C>A |
p.Pro89Thr |
Missense |
5/9 |
- |
1 |
10-89692782-C-G |
c.266C>G |
p.Pro89Arg |
Missense |
5/9 |
- |
1 |
10-89692784-T-C |
c.268T>C |
p.Phe90Leu |
Missense |
5/9 |
- |
1 |
10-89692786-T-G |
c.270T>G |
p.Phe90Leu |
Missense |
5/9 |
- |
1 |
10-89692786-T-A |
c.270T>A |
p.Phe90Leu |
Missense |
5/9 |
- |
1 |
10-89692785-T-C |
c.269T>C |
p.Phe90Ser |
Missense |
5/9 |
- |
5 |
10-89692786-TT-T |
c.270del |
p.Phe90Leufs*9 |
Frameshift |
5/9 |
- |
2 |
10-89692787-GA-AG |
c.271_272delinsAG |
p.Glu91Arg |
Missense |
5/9 |
- |
2 |
10-89692787-GA-TT |
c.271_272delinsTT |
p.Glu91Leu |
Missense |
5/9 |
- |
1 |
10-89692787-G-C |
c.271G>C |
p.Glu91Gln |
Missense |
5/9 |
- |
3 |
10-89692790-GA-TT |
c.274_275delinsTT |
p.Asp92Phe |
Missense |
5/9 |
- |
1 |
10-89692790-G-C |
c.274G>C |
p.Asp92His |
Missense |
5/9 |
- |
5 |
10-89692790-G-T |
c.274G>T |
p.Asp92Tyr |
Missense |
5/9 |
- |
1 |
10-89692791-A-C |
c.275A>C |
p.Asp92Ala |
Missense |
5/9 |
- |
9 |
10-89692791-A-G |
c.275A>G |
p.Asp92Gly |
Missense |
5/9 |
- |
4 |
10-89692792-C-G |
c.276C>G |
p.Asp92Glu |
Missense |
5/9 |
- |
11 |
10-89692792-C-A |
c.276C>A |
p.Asp92Glu |
Missense |
5/9 |
- |
11 |
10-89692793-C-G |
c.277C>G |
p.His93Asp |
Missense |
5/9 |
- |
2 |
10-89692793-C-T |
c.277C>T |
p.His93Tyr |
Missense |
5/9 |
- |
6 |
10-89692793-CA-GC |
c.277_278delinsGC |
p.His93Ala |
Missense |
5/9 |
- |
5 |
10-89692794-A-G |
c.278A>G |
p.His93Arg |
Missense |
5/9 |
- |
23 |
10-89692795-T-G |
c.279T>G |
p.His93Gln |
Missense |
5/9 |
- |
2 |
10-89692795-T-A |
c.279T>A |
p.His93Gln |
Missense |
5/9 |
- |
2 |
10-89692799-C-A |
c.283C>A |
p.Pro95Thr |
Missense |
5/9 |
- |
1 |
10-89692799-C-T |
c.283C>T |
p.Pro95Ser |
Missense |
5/9 |
- |
6 |
10-89692800-C-T |
c.284C>T |
p.Pro95Leu |
Missense |
5/9 |
- |
4 |
10-89692800-C-G |
c.284C>G |
p.Pro95Arg |
Missense |
5/9 |
- |
1 |
10-89692802-C-T |
c.286C>T |
p.Pro96Ser |
Missense |
5/9 |
- |
2 |
10-89692803-C-T |
c.287C>T |
p.Pro96Leu |
Missense |
5/9 |
- |
1 |
10-89692803-C-A |
c.287C>A |
p.Pro96Gln |
Missense |
5/9 |
- |
1 |
10-89692803-C-G |
c.287C>G |
p.Pro96Arg |
Missense |
5/9 |
- |
3 |
10-89692805-C-T |
c.289C>T |
p.Gln97* |
Nonsense |
5/9 |
- |
2 |
10-89692806-A-G |
c.290A>G |
p.Gln97Arg |
Missense |
5/9 |
- |
1 |
10-89692807-G-T |
c.291G>T |
p.Gln97His |
Missense |
5/9 |
- |
1 |
10-89692807-G-C |
c.291G>C |
p.Gln97His |
Missense |
5/9 |
- |
1 |
10-89692808-C-T |
c.292C>T |
p.Leu98Leu |
Synonymous |
5/9 |
- |
2 |
10-89692811-G-A |
c.295G>A |
p.Glu99Lys |
Missense |
5/9 |
- |
3 |
10-89692813-A-T |
c.297A>T |
p.Glu99Asp |
Missense |
5/9 |
- |
1 |
10-89692813-A-C |
c.297A>C |
p.Glu99Asp |
Missense |
5/9 |
- |
1 |
10-89692813-A-AA |
c.297dup |
p.Leu100Thrfs*7 |
Frameshift |
5/9 |
- |
1 |
10-89692814-CT-GC |
c.298_299delinsGC |
p.Leu100Ala |
Missense |
5/9 |
- |
1 |
10-89692817-A-AA |
c.301dup |
p.Ile101Asnfs*6 |
Frameshift |
5/9 |
- |
1 |
10-89692817-AT-GC |
c.301_302delinsGC |
p.Ile101Ala |
Missense |
5/9 |
- |
1 |
10-89692818-T-C |
c.302T>C |
p.Ile101Thr |
Missense |
5/9 |
- |
10 |
10-89692822-A-AAAG |
c.306_307insAAG |
p.Lys102dup |
InFrameInsertion |
5/9 |
- |
1 |
10-89692824-CC-AA |
c.308_309delinsAA |
p.Pro103Gln |
Missense |
5/9 |
- |
1 |
10-89692826-T-C |
c.310T>C |
p.Phe104Leu |
Missense |
5/9 |
- |
2 |
10-89692829-TG-GC |
c.313_314delinsGC |
p.Cys105Ala |
Missense |
5/9 |
- |
2 |
10-89692829-T-G |
c.313T>G |
p.Cys105Gly |
Missense |
5/9 |
- |
1 |
10-89692830-G-T |
c.314G>T |
p.Cys105Phe |
Missense |
5/9 |
- |
3 |
10-89692830-G-A |
c.314G>A |
p.Cys105Tyr |
Missense |
5/9 |
- |
3 |
10-89692832-G-T |
c.316G>T |
p.Glu106* |
Nonsense |
5/9 |
- |
1 |
10-89692832-G-C |
c.316G>C |
p.Glu106Gln |
Missense |
5/9 |
- |
1 |
10-89692835-G-T |
c.319G>T |
p.Asp107Tyr |
Missense |
5/9 |
- |
3 |
10-89692836-A-G |
c.320A>G |
p.Asp107Gly |
Missense |
5/9 |
- |
3 |
10-89692836-A-C |
c.320A>C |
p.Asp107Ala |
Missense |
5/9 |
- |
1 |
10-89692839-T-G |
c.323T>G |
p.Leu108Arg |
Missense |
5/9 |
- |
9 |
10-89692839-T-C |
c.323T>C |
p.Leu108Pro |
Missense |
5/9 |
- |
8 |
10-89692840-TT-T |
c.324del |
p.Asp109Thrfs*4 |
Frameshift |
5/9 |
- |
1 |
10-89692841-GAC-TAA |
c.325_327delinsTAA |
p.Asp109* |
Nonsense |
5/9 |
- |
1 |
10-89692844-C-G |
c.328C>G |
p.Gln110Glu |
Missense |
5/9 |
- |
1 |
10-89692844-C-T |
c.328C>T |
p.Gln110* |
Nonsense |
5/9 |
- |
6 |
10-89692845-A-G |
c.329A>G |
p.Gln110Arg |
Missense |
5/9 |
- |
1 |
10-89692847-T-A |
c.331T>A |
p.Trp111Arg |
Missense |
5/9 |
- |
2 |
10-89692847-T-C |
c.331T>C |
p.Trp111Arg |
Missense |
5/9 |
- |
2 |
10-89692847-TGG-CAT |
c.331_333delinsCAT |
p.Trp111His |
Missense |
5/9 |
- |
2 |
10-89692848-G-A |
c.332G>A |
p.Trp111* |
Nonsense |
5/9 |
- |
3 |
10-89692849-G-A |
c.333G>A |
p.Trp111* |
Nonsense |
5/9 |
- |
3 |
10-89692849-G-T |
c.333G>T |
p.Trp111Cys |
Missense |
5/9 |
- |
1 |
10-89692849-G-C |
c.333G>C |
p.Trp111Cys |
Missense |
5/9 |
- |
1 |
10-89692850-GCTAAGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAAC-G |
c.334_392del |
p.Leu112Trpfs*48 |
InFrameDeletion |
5/9 |
- |
1 |
10-89692850-C-G |
c.334C>G |
p.Leu112Val |
Missense |
5/9 |
- |
4 |
10-89692851-T-A |
c.335T>A |
p.Leu112Gln |
Missense |
5/9 |
- |
1 |
10-89692851-T-G |
c.335T>G |
p.Leu112Arg |
Missense |
5/9 |
- |
3 |
10-89692851-T-C |
c.335T>C |
p.Leu112Pro |
Missense |
5/9 |
- |
3 |
10-89692853-AGT-GAG |
c.337_339delinsGAG |
p.Ser113Glu |
Missense |
5/9 |
- |
1 |
10-89692853-AG-GC |
c.337_338delinsGC |
p.Ser113Ala |
Missense |
5/9 |
- |
2 |
10-89692858-A-C |
c.342A>C |
p.Glu114Asp |
Missense |
5/9 |
- |
1 |
10-89692858-A-T |
c.342A>T |
p.Glu114Asp |
Missense |
5/9 |
- |
1 |
10-89692859-G-A |
c.343G>A |
p.Asp115Asn |
Missense |
5/9 |
- |
3 |
10-89692866-A-G |
c.350A>G |
p.Asn117Ser |
Missense |
5/9 |
- |
2 |
10-89692868-C-A |
c.352C>A |
p.His118Asn |
Missense |
5/9 |
- |
1 |
10-89692868-C-T |
c.352C>T |
p.His118Tyr |
Missense |
5/9 |
- |
1 |
10-89692869-A-C |
c.353A>C |
p.His118Pro |
Missense |
5/9 |
- |
3 |
10-89692871-G-T |
c.355G>T |
p.Val119Phe |
Missense |
5/9 |
- |
1 |
10-89692871-G-C |
c.355G>C |
p.Val119Leu |
Missense |
5/9 |
- |
2 |
10-89692871-TG-T |
c.355del |
p.Val119Leufs*15 |
Frameshift |
5/9 |
- |
1 |
10-89692872-T-A |
c.356T>A |
p.Val119Asp |
Missense |
5/9 |
- |
1 |
10-89692872-T-C |
c.356T>C |
p.Val119Ala |
Missense |
5/9 |
- |
1 |
10-89692874-G-C |
c.358G>C |
p.Ala120Pro |
Missense |
5/9 |
- |
2 |
10-89692875-C-A |
c.359C>A |
p.Ala120Glu |
Missense |
5/9 |
- |
1 |
10-89692876-A-C |
c.360A>C |
p.Ala120Ala |
Synonymous |
5/9 |
- |
1 |
10-89692876-A-T |
c.360A>T |
p.Ala120Ala |
Synonymous |
5/9 |
- |
1 |
10-89692876-A-G |
c.360A>G |
p.Ala120Ala |
Synonymous |
5/9 |
- |
1 |
10-89692877-G-A |
c.361G>A |
p.Ala121Thr |
Missense |
5/9 |
- |
1 |
10-89692878-C-T |
c.362C>T |
p.Ala121Val |
Missense |
5/9 |
- |
1 |
10-89692878-C-A |
c.362C>A |
p.Ala121Glu |
Missense |
5/9 |
- |
1 |
10-89692880-A-G |
c.364A>G |
p.Ile122Val |
Missense |
5/9 |
- |
1 |
10-89692881-T-A |
c.365T>A |
p.Ile122Asn |
Missense |
5/9 |
- |
2 |
10-89692881-T-G |
c.365T>G |
p.Ile122Ser |
Missense |
5/9 |
- |
2 |
10-89692883-C-T |
c.367C>T |
p.His123Tyr |
Missense |
5/9 |
- |
5 |
10-89692883-C-G |
c.367C>G |
p.His123Asp |
Missense |
5/9 |
- |
1 |
10-89692884-A-C |
c.368A>C |
p.His123Pro |
Missense |
5/9 |
- |
1 |
10-89692884-A-G |
c.368A>G |
p.His123Arg |
Missense |
5/9 |
- |
1 |
10-89692885-C-G |
c.369C>G |
p.His123Gln |
Missense |
5/9 |
- |
3 |
10-89692886-TG-AC |
c.370_371delinsAC |
p.Cys124Thr |
Missense |
5/9 |
- |
1 |
10-89692886-TG-GC |
c.370_371delinsGC |
p.Cys124Ala |
Missense |
5/9 |
- |
12 |
10-89692886-T-G |
c.370T>G |
p.Cys124Gly |
Missense |
5/9 |
- |
1 |
10-89692886-T-C |
c.370T>C |
p.Cys124Arg |
Missense |
5/9 |
- |
12 |
10-89692887-G-C |
c.371G>C |
p.Cys124Ser |
Missense |
5/9 |
- |
248 |
10-89692887-G-A |
c.371G>A |
p.Cys124Tyr |
Missense |
5/9 |
- |
3 |
10-89692887-G-T |
c.371G>T |
p.Cys124Phe |
Missense |
5/9 |
- |
2 |
10-89692888-T-G |
c.372T>G |
p.Cys124Trp |
Missense |
5/9 |
- |
1 |
10-89692888-T-C |
c.372T>C |
p.Cys124Cys |
Synonymous |
5/9 |
- |
1 |
10-89692889-AA-CT |
c.373_374delinsCT |
p.Lys125Leu |
Missense |
5/9 |
- |
1 |
10-89692889-A-G |
c.373A>G |
p.Lys125Glu |
Missense |
5/9 |
- |
4 |
10-89692890-A-G |
c.374A>G |
p.Lys125Arg |
Missense |
5/9 |
- |
2 |
10-89692891-A-C |
c.375A>C |
p.Lys125Asn |
Missense |
5/9 |
- |
1 |
10-89692891-A-T |
c.375A>T |
p.Lys125Asn |
Missense |
5/9 |
- |
1 |
10-89692892-G-A |
c.376G>A |
p.Ala126Thr |
Missense |
5/9 |
- |
4 |
10-89692892-G-T |
c.376G>T |
p.Ala126Ser |
Missense |
5/9 |
- |
4 |
10-89692892-G-C |
c.376G>C |
p.Ala126Pro |
Missense |
5/9 |
- |
4 |
10-89692893-C-T |
c.377C>T |
p.Ala126Val |
Missense |
5/9 |
- |
4 |
10-89692893-C-G |
c.377C>G |
p.Ala126Gly |
Missense |
5/9 |
- |
6 |
10-89692895-G-C |
c.379G>C |
p.Gly127Arg |
Missense |
5/9 |
- |
4 |
10-89692895-G-A |
c.379G>A |
p.Gly127Arg |
Missense |
5/9 |
- |
4 |
10-89692896-G-T |
c.380G>T |
p.Gly127Val |
Missense |
5/9 |
- |
2 |
10-89692896-G-A |
c.380G>A |
p.Gly127Glu |
Missense |
5/9 |
- |
1 |
10-89692898-A-G |
c.382A>G |
p.Lys128Glu |
Missense |
5/9 |
- |
1 |
10-89692898-A-C |
c.382A>C |
p.Lys128Gln |
Missense |
5/9 |
- |
1 |
10-89692899-AAGGGACGAA-A |
c.383_391del |
p.Lys128_Arg130del |
InFrameDeletion |
5/9 |
- |
2 |
10-89692899-A-C |
c.383A>C |
p.Lys128Thr |
Missense |
5/9 |
- |
2 |
10-89692899-A-G |
c.383A>G |
p.Lys128Arg |
Missense |
5/9 |
- |
1 |
10-89692900-G-C |
c.384G>C |
p.Lys128Asn |
Missense |
5/9 |
- |
3 |
10-89692900-G-T |
c.384G>T |
p.Lys128Asn |
Missense |
5/9 |
- |
3 |
10-89692901-GGA-AGC |
c.385_387delinsAGC |
p.Gly129Ser |
Missense |
5/9 |
- |
1 |
10-89692901-GGA-TGT |
c.385_387delinsTGT |
p.Gly129Cys |
Missense |
5/9 |
- |
1 |
10-89692901-G-T |
c.385G>T |
p.Gly129* |
Nonsense |
5/9 |
- |
5 |
10-89692901-G-C |
c.385G>C |
p.Gly129Arg |
Missense |
5/9 |
- |
57 |
10-89692901-GG-CA |
c.385_386delinsCA |
p.Gly129Gln |
Missense |
5/9 |
- |
1 |
10-89692901-G-A |
c.385G>A |
p.Gly129Arg |
Missense |
5/9 |
- |
57 |
10-89692902-G-A |
c.386G>A |
p.Gly129Glu |
Missense |
5/9 |
- |
172 |
10-89692902-G-T |
c.386G>T |
p.Gly129Val |
Missense |
5/9 |
- |
5 |
10-89692902-G-C |
c.386G>C |
p.Gly129Ala |
Missense |
5/9 |
- |
1 |
10-89692904-ACGA-A |
c.388_390del |
p.Arg130del |
InFrameDeletion |
5/9 |
- |
2 |
10-89692904-C-G |
c.388C>G |
p.Arg130Gly |
Missense |
5/9 |
- |
54 |
10-89692904-CGA-ATG |
c.388_390delinsATG |
p.Arg130Met |
Missense |
5/9 |
- |
1 |
10-89692904-C-T |
c.388C>T |
p.Arg130* |
Nonsense |
5/9 |
- |
84 |
10-89692905-CG-C |
c.389del |
p.Arg130Glnfs*4 |
Frameshift |
5/9 |
- |
4 |
10-89692905-G-T |
c.389G>T |
p.Arg130Leu |
Missense |
5/9 |
- |
14 |
10-89692905-G-A |
c.389G>A |
p.Arg130Gln |
Missense |
5/9 |
- |
70 |
10-89692905-G-C |
c.389G>C |
p.Arg130Pro |
Missense |
5/9 |
- |
8 |
10-89692907-A-C |
c.391A>C |
p.Thr131Pro |
Missense |
5/9 |
- |
1 |
10-89692908-C-A |
c.392C>A |
p.Thr131Asn |
Missense |
5/9 |
- |
2 |
10-89692908-C-T |
c.392C>T |
p.Thr131Ile |
Missense |
5/9 |
- |
4 |
10-89692910-G-T |
c.394G>T |
p.Gly132Cys |
Missense |
5/9 |
- |
1 |
10-89692910-G-A |
c.394G>A |
p.Gly132Ser |
Missense |
5/9 |
- |
2 |
10-89692910-GG-TT |
c.394_395delinsTT |
p.Gly132Phe |
Missense |
5/9 |
- |
1 |
10-89692911-G-A |
c.395G>A |
p.Gly132Asp |
Missense |
5/9 |
- |
10 |
10-89692911-G-T |
c.395G>T |
p.Gly132Val |
Missense |
5/9 |
- |
3 |
10-89692911-G-C |
c.395G>C |
p.Gly132Ala |
Missense |
5/9 |
- |
1 |
10-89692913-G-A |
c.397G>A |
p.Val133Ile |
Missense |
5/9 |
- |
2 |
10-89692916-A-T |
c.400A>T |
p.Met134Leu |
Missense |
5/9 |
- |
3 |
10-89692917-T-C |
c.401T>C |
p.Met134Thr |
Missense |
5/9 |
- |
1 |
10-89692917-T-G |
c.401T>G |
p.Met134Arg |
Missense |
5/9 |
- |
3 |
10-89692918-G-C |
c.402G>C |
p.Met134Ile |
Missense |
5/9 |
- |
6 |
10-89692918-G-A |
c.402G>A |
p.Met134Ile |
Missense |
5/9 |
- |
6 |
10-89692918-G-T |
c.402G>T |
p.Met134Ile |
Missense |
5/9 |
- |
6 |
10-89692918-TGAT-T |
c.402_404del |
p.Met134del |
InFrameDeletion |
5/9 |
- |
3 |
10-89692919-A-G |
c.403A>G |
p.Ile135Val |
Missense |
5/9 |
- |
3 |
10-89692920-T-A |
c.404T>A |
p.Ile135Lys |
Missense |
5/9 |
- |
2 |
10-89692921-A-AA |
c.405dup |
p.Cys136Metfs*44 |
Frameshift |
5/9 |
- |
4 |
10-89692922-TG-GC |
c.406_407delinsGC |
p.Cys136Ala |
Missense |
5/9 |
- |
1 |
10-89692922-T-C |
c.406T>C |
p.Cys136Arg |
Missense |
5/9 |
- |
16 |
10-89692922-T-G |
c.406T>G |
p.Cys136Gly |
Missense |
5/9 |
- |
1 |
10-89692922-AT-A |
c.406del |
p.Cys136Valfs*11 |
Frameshift |
5/9 |
- |
1 |
10-89692923-G-A |
c.407G>A |
p.Cys136Tyr |
Missense |
5/9 |
- |
10 |
10-89692924-T-G |
c.408T>G |
p.Cys136Trp |
Missense |
5/9 |
- |
1 |
10-89692925-GCA-TTT |
c.409_411delinsTTT |
p.Ala137Phe |
Missense |
5/9 |
- |
1 |
10-89692928-TA-CT |
c.412_413delinsCT |
p.Tyr138Leu |
Missense |
5/9 |
- |
25 |
10-89692929-A-G |
c.413A>G |
p.Tyr138Cys |
Missense |
5/9 |
- |
6 |
10-89692929-A-T |
c.413A>T |
p.Tyr138Phe |
Missense |
5/9 |
- |
2 |
10-89692931-T-G |
c.415T>G |
p.Leu139Val |
Missense |
5/9 |
- |
1 |
10-89692932-T-G |
c.416T>G |
p.Leu139* |
Nonsense |
5/9 |
- |
9 |
10-89692932-T-A |
c.416T>A |
p.Leu139* |
Nonsense |
5/9 |
- |
9 |
10-89692932-TT-T |
c.416del |
p.Leu139Tyrfs*8 |
Frameshift |
5/9 |
- |
1 |
10-89692933-A-C |
c.417A>C |
p.Leu139Phe |
Missense |
5/9 |
- |
1 |
10-89692933-A-T |
c.417A>T |
p.Leu139Phe |
Missense |
5/9 |
- |
1 |
10-89692935-T-A |
c.419T>A |
p.Leu140* |
Nonsense |
5/9 |
- |
1 |
10-89692935-T-G |
c.419T>G |
p.Leu140* |
Nonsense |
5/9 |
- |
1 |
10-89692936-A-T |
c.420A>T |
p.Leu140Phe |
Missense |
5/9 |
- |
1 |
10-89692936-A-C |
c.420A>C |
p.Leu140Phe |
Missense |
5/9 |
- |
1 |
10-89692936-A-AA |
c.420dup |
p.His141Thrfs*39 |
Frameshift |
5/9 |
- |
4 |
10-89692937-C-T |
c.421C>T |
p.His141Tyr |
Missense |
5/9 |
- |
1 |
10-89692937-C-G |
c.421C>G |
p.His141Asp |
Missense |
5/9 |
- |
1 |
10-89692938-A-G |
c.422A>G |
p.His141Arg |
Missense |
5/9 |
- |
2 |
10-89692940-CGGGGCAAATTTTTA-CAAGGTAAGTTTTAA |
c.425_437delinsAAGGTAAGTTTTA |
p.Arg142_Leu146delinsGlnGlyLysPhe* |
MultiAAMissense |
5/9 |
- |
1 |
10-89692940-C-T |
c.424C>T |
p.Arg142Trp |
Missense |
5/9 |
- |
1 |
10-89692941-G-A |
c.425G>A |
p.Arg142Gln |
Missense |
5/9 |
- |
3 |
10-89692941-CGGGGCAAATTTTT-C |
c.425_437del |
p.Arg142Glnfs*7 |
Frameshift |
5/9 |
- |
1 |
10-89692943-GG-CA |
c.427_428delinsCA |
p.Gly143His |
Missense |
5/9 |
- |
1 |
10-89692944-GG-G |
c.428del |
p.Gly143Alafs*4 |
Frameshift |
5/9 |
- |
1 |
10-89692946-A-T |
c.430A>T |
p.Lys144* |
Nonsense |
5/9 |
- |
1 |
10-89692946-A-C |
c.430A>C |
p.Lys144Gln |
Missense |
5/9 |
- |
1 |
10-89692946-AAA-TAT |
c.430_432delinsTAT |
p.Lys144Tyr |
Missense |
5/9 |
- |
1 |
10-89692947-A-G |
c.431A>G |
p.Lys144Arg |
Missense |
5/9 |
- |
1 |
10-89692948-A-C |
c.432A>C |
p.Lys144Asn |
Missense |
5/9 |
- |
1 |
10-89692948-A-T |
c.432A>T |
p.Lys144Asn |
Missense |
5/9 |
- |
1 |
10-89692949-T-A |
c.433T>A |
p.Phe145Ile |
Missense |
5/9 |
- |
1 |
10-89692949-T-G |
c.433T>G |
p.Phe145Val |
Missense |
5/9 |
- |
1 |
10-89692953-T-A |
c.437T>A |
p.Leu146* |
Nonsense |
5/9 |
- |
3 |
10-89692953-T-G |
c.437T>G |
p.Leu146* |
Nonsense |
5/9 |
- |
3 |
10-89692956-A-G |
c.440A>G |
p.Lys147Arg |
Missense |
5/9 |
- |
1 |
10-89692956-A-AA |
c.440dup |
p.Ala148Glyfs*32 |
Frameshift |
5/9 |
- |
1 |
10-89692958-G-A |
c.442G>A |
p.Ala148Thr |
Missense |
5/9 |
- |
1 |
10-89692959-C-A |
c.443C>A |
p.Ala148Glu |
Missense |
5/9 |
- |
1 |
10-89692961-C-A |
c.445C>A |
p.Gln149Lys |
Missense |
5/9 |
- |
1 |
10-89692961-C-T |
c.445C>T |
p.Gln149* |
Nonsense |
5/9 |
- |
7 |
10-89692964-G-T |
c.448G>T |
p.Glu150* |
Nonsense |
5/9 |
- |
1 |
10-89692970-CTA-TTT |
c.454_456delinsTTT |
p.Leu152Phe |
Missense |
5/9 |
- |
1 |
10-89692971-T-C |
c.455T>C |
p.Leu152Pro |
Missense |
5/9 |
- |
4 |
10-89692972-TAGATTTCTATGGG-T |
c.456_468del |
p.Asp153Lysfs*2 |
Frameshift |
5/9 |
- |
1 |
10-89692978-C-G |
c.462C>G |
p.Phe154Leu |
Missense |
5/9 |
- |
5 |
10-89692978-C-A |
c.462C>A |
p.Phe154Leu |
Missense |
5/9 |
- |
5 |
10-89692976-T-C |
c.460T>C |
p.Phe154Leu |
Missense |
5/9 |
- |
5 |
10-89692977-T-G |
c.461T>G |
p.Phe154Cys |
Missense |
5/9 |
- |
1 |
10-89692977-T-C |
c.461T>C |
p.Phe154Ser |
Missense |
5/9 |
- |
1 |
10-89692979-T-C |
c.463T>C |
p.Tyr155His |
Missense |
5/9 |
- |
1 |
10-89692979-T-A |
c.463T>A |
p.Tyr155Asn |
Missense |
5/9 |
- |
3 |
10-89692980-A-G |
c.464A>G |
p.Tyr155Cys |
Missense |
5/9 |
- |
14 |
10-89692980-A-C |
c.464A>C |
p.Tyr155Ser |
Missense |
5/9 |
- |
2 |
10-89692980-A-T |
c.464A>T |
p.Tyr155Phe |
Missense |
5/9 |
- |
2 |
10-89692983-G-C |
c.467G>C |
p.Gly156Ala |
Missense |
5/9 |
- |
1 |
10-89692985-GAA-CAT |
c.469_471delinsCAT |
p.Glu157His |
Missense |
5/9 |
- |
1 |
10-89692985-G-T |
c.469G>T |
p.Glu157* |
Nonsense |
5/9 |
- |
1 |
10-89692986-A-G |
c.470A>G |
p.Glu157Gly |
Missense |
5/9 |
- |
3 |
10-89692988-GTA-TTT |
c.472_474delinsTTT |
p.Val158Phe |
Missense |
5/9 |
- |
4 |
10-89692988-G-T |
c.472G>T |
p.Val158Leu |
Missense |
5/9 |
- |
1 |
10-89692988-GTA-ATG |
c.472_474delinsATG |
p.Val158Met |
Missense |
5/9 |
- |
1 |
10-89692988-G-C |
c.472G>C |
p.Val158Leu |
Missense |
5/9 |
- |
1 |
10-89692991-A-G |
c.475A>G |
p.Arg159Gly |
Missense |
5/9 |
- |
1 |
10-89692991-AG-TA |
c.475_476delinsTA |
p.Arg159* |
Nonsense |
5/9 |
- |
1 |
10-89692992-G-A |
c.476G>A |
p.Arg159Lys |
Missense |
5/9 |
- |
2 |
10-89692992-G-C |
c.476G>C |
p.Arg159Thr |
Missense |
5/9 |
- |
2 |
10-89692993-G-T |
c.477G>T |
p.Arg159Ser |
Missense |
5/9 |
- |
7 |
10-89692997-AG-GC |
c.481_482delinsGC |
p.Arg161Ala |
Missense |
5/9 |
- |
4 |
10-89692997-AG-GA |
c.481_482delinsGA |
p.Arg161Glu |
Missense |
5/9 |
- |
1 |
10-89693000-G-T |
c.484G>T |
p.Asp162Tyr |
Missense |
5/9 |
- |
1 |
10-89693000-G-C |
c.484G>C |
p.Asp162His |
Missense |
5/9 |
- |
2 |
10-89693000-G-GG |
c.484dup |
p.Asp162Glyfs*18 |
Frameshift |
5/9 |
- |
1 |
10-89693002-C-G |
c.486C>G |
p.Asp162Glu |
Missense |
5/9 |
- |
1 |
10-89693002-C-CT |
c.486_487insT |
p.Lys163* |
Nonsense |
5/9 |
- |
1 |
10-89693002-AC-A |
c.486del |
p.Asp162Glufs*5 |
Frameshift |
5/9 |
- |
1 |
10-89693003-AA-GC |
c.487_488delinsGC |
p.Lys163Ala |
Missense |
5/9 |
- |
2 |
10-89693004-A-G |
c.488A>G |
p.Lys163Arg |
Missense |
5/9 |
- |
2 |
10-89693005-AAAAG-A |
c.489_492del |
p.Lys164Glufs*2 |
SpliceDonorDeletion |
5/9 |
- |
1 |
10-89693006-AA-GC |
c.490_491delinsGC |
p.Lys164Ala |
Missense |
5/9 |
- |
5 |
10-89693006-A-G |
c.490A>G |
p.Lys164Glu |
Missense |
5/9 |
- |
3 |
10-89693007-A-G |
c.491A>G |
p.Lys164Arg |
Missense |
5/9 |
- |
1 |
10-89693007-AA-A |
c.491del |
p.Lys164Argfs*3 |
Frameshift |
5/9 |
- |
5 |
10-89693008-G-C |
c.492G>C |
p.Lys164Asn |
Missense |
5/9 |
- |
2 |
10-89693008-G-T |
c.492G>T |
p.Lys164Asn |
Missense |
5/9 |
- |
2 |
10-89693009-G-T |
c.492+1G>T |
- |
IntronicSNV |
- |
5/8 |
1 |
10-89697353-C-T |
c.492+4345C>T |
- |
IntronicSNV |
- |
5/8 |
1 |
10-89698190-C-A |
c.492+5182C>A |
- |
IntronicSNV |
- |
5/8 |
2 |
10-89700671-G-C |
c.492+7663G>C |
- |
IntronicSNV |
- |
5/8 |
10 |
10-89700671-G-A |
c.492+7663G>A |
- |
IntronicSNV |
- |
5/8 |
10 |
10-89704719-A-G |
c.493-7156A>G |
- |
IntronicSNV |
- |
5/8 |
5 |
10-89705429-G-C |
c.493-6446G>C |
- |
IntronicSNV |
- |
5/8 |
13 |
10-89707265-T-G |
c.493-4610T>G |
- |
IntronicSNV |
- |
5/8 |
3 |
10-89707265-T-C |
c.493-4610T>C |
- |
IntronicSNV |
- |
5/8 |
3 |
10-89709416-T-C |
c.493-2459T>C |
- |
IntronicSNV |
- |
5/8 |
2 |
10-89711873-A-G |
c.493-2A>G |
- |
IntronicSNV |
- |
5/8 |
1 |
10-89711875-G-A |
c.493G>A |
p.Gly165Arg |
Missense |
6/9 |
- |
9 |
10-89711875-G-T |
c.493G>T |
p.Gly165* |
Nonsense |
6/9 |
- |
5 |
10-89711875-GG-AT |
c.493_494delinsAT |
p.Gly165Ile |
Missense |
6/9 |
- |
1 |
10-89711876-G-A |
c.494G>A |
p.Gly165Glu |
Missense |
6/9 |
- |
7 |
10-89711876-G-T |
c.494G>T |
p.Gly165Val |
Missense |
6/9 |
- |
2 |
10-89711877-A-T |
c.495A>T |
p.Gly165Gly |
Synonymous |
6/9 |
- |
1 |
10-89711878-G-C |
c.496G>C |
p.Val166Leu |
Missense |
6/9 |
- |
1 |
10-89711878-G-T |
c.496G>T |
p.Val166Leu |
Missense |
6/9 |
- |
1 |
10-89711879-T-TT |
c.497dup |
p.Thr167Asnfs*13 |
Frameshift |
6/9 |
- |
1 |
10-89711881-AACTATTC-A |
c.499_505del |
p.Thr167Profs*14 |
Frameshift |
6/9 |
- |
2 |
10-89711881-A-G |
c.499A>G |
p.Thr167Ala |
Missense |
6/9 |
- |
8 |
10-89711882-C-A |
c.500C>A |
p.Thr167Asn |
Missense |
6/9 |
- |
4 |
10-89711882-C-G |
c.500C>G |
p.Thr167Ser |
Missense |
6/9 |
- |
1 |
10-89711881-A-T |
c.499A>T |
p.Thr167Ser |
Missense |
6/9 |
- |
1 |
10-89711884-A-C |
c.502A>C |
p.Ile168Leu |
Missense |
6/9 |
- |
1 |
10-89711887-CCC-TGG |
c.505_507delinsTGG |
p.Pro169Trp |
Missense |
6/9 |
- |
1 |
10-89711887-CC-GG |
c.505_506inv |
p.Pro169Gly |
Missense |
6/9 |
- |
1 |
10-89711889-CC-C |
c.507del |
p.Ser170Valfs*13 |
Frameshift |
6/9 |
- |
1 |
10-89711890-A-G |
c.508A>G |
p.Ser170Gly |
Missense |
6/9 |
- |
1 |
10-89711891-G-C |
c.509G>C |
p.Ser170Thr |
Missense |
6/9 |
- |
2 |
10-89711891-G-T |
c.509G>T |
p.Ser170Ile |
Missense |
6/9 |
- |
7 |
10-89711891-G-A |
c.509G>A |
p.Ser170Asn |
Missense |
6/9 |
- |
6 |
10-89711892-T-A |
c.510T>A |
p.Ser170Arg |
Missense |
6/9 |
- |
9 |
10-89711892-T-G |
c.510T>G |
p.Ser170Arg |
Missense |
6/9 |
- |
9 |
10-89711893-CA-GC |
c.511_512delinsGC |
p.Gln171Ala |
Missense |
6/9 |
- |
3 |
10-89711893-C-G |
c.511C>G |
p.Gln171Glu |
Missense |
6/9 |
- |
4 |
10-89711893-C-T |
c.511C>T |
p.Gln171* |
Nonsense |
6/9 |
- |
15 |
10-89711895-G-A |
c.513G>A |
p.Gln171Gln |
Synonymous |
6/9 |
- |
1 |
10-89711895-G-T |
c.513G>T |
p.Gln171His |
Missense |
6/9 |
- |
1 |
10-89711895-G-C |
c.513G>C |
p.Gln171His |
Missense |
6/9 |
- |
1 |
10-89711896-AG-CC |
c.514_515delinsCC |
p.Arg172Pro |
Missense |
6/9 |
- |
4 |
10-89711896-AGG-CAT |
c.514_516delinsCAT |
p.Arg172His |
Missense |
6/9 |
- |
56 |
10-89711897-G-A |
c.515G>A |
p.Arg172Lys |
Missense |
6/9 |
- |
1 |
10-89711898-G-C |
c.516G>C |
p.Arg172Ser |
Missense |
6/9 |
- |
1 |
10-89711898-G-T |
c.516G>T |
p.Arg172Ser |
Missense |
6/9 |
- |
1 |
10-89711899-C-T |
c.517C>T |
p.Arg173Cys |
Missense |
6/9 |
- |
41 |
10-89711899-CGC-TGA |
c.517_519delinsTGA |
p.Arg173* |
Nonsense |
6/9 |
- |
1 |
10-89711900-G-C |
c.518G>C |
p.Arg173Pro |
Missense |
6/9 |
- |
4 |
10-89711900-G-A |
c.518G>A |
p.Arg173His |
Missense |
6/9 |
- |
29 |
10-89711900-G-T |
c.518G>T |
p.Arg173Leu |
Missense |
6/9 |
- |
1 |
10-89711902-T-TT |
c.520dup |
p.Tyr174Leufs*6 |
Frameshift |
6/9 |
- |
1 |
10-89711902-T-G |
c.520T>G |
p.Tyr174Asp |
Missense |
6/9 |
- |
1 |
10-89711902-T-A |
c.520T>A |
p.Tyr174Asn |
Missense |
6/9 |
- |
2 |
10-89711903-A-T |
c.521A>T |
p.Tyr174Phe |
Missense |
6/9 |
- |
2 |
10-89711903-A-G |
c.521A>G |
p.Tyr174Cys |
Missense |
6/9 |
- |
2 |
10-89711905-G-A |
c.523G>A |
p.Val175Met |
Missense |
6/9 |
- |
1 |
10-89711906-T-C |
c.524T>C |
p.Val175Ala |
Missense |
6/9 |
- |
1 |
10-89711907-TGT-T |
c.525_526del |
p.Tyr176Leufs*3 |
Frameshift |
6/9 |
- |
1 |
10-89711909-A-G |
c.527A>G |
p.Tyr176Cys |
Missense |
6/9 |
- |
6 |
10-89711910-T-G |
c.528T>G |
p.Tyr176* |
Nonsense |
6/9 |
- |
1 |
10-89711910-T-A |
c.528T>A |
p.Tyr176* |
Nonsense |
6/9 |
- |
1 |
10-89711911-TA-AC |
c.529_530delinsAC |
p.Tyr177Thr |
Missense |
6/9 |
- |
1 |
10-89711911-T-C |
c.529T>C |
p.Tyr177His |
Missense |
6/9 |
- |
1 |
10-89711912-A-T |
c.530A>T |
p.Tyr177Phe |
Missense |
6/9 |
- |
1 |
10-89711913-T-G |
c.531T>G |
p.Tyr177* |
Nonsense |
6/9 |
- |
2 |
10-89711914-TTAT-T |
c.532_534del |
p.Tyr178del |
InFrameDeletion |
6/9 |
- |
1 |
10-89711916-T-A |
c.534T>A |
p.Tyr178* |
Nonsense |
6/9 |
- |
6 |
10-89711916-T-G |
c.534T>G |
p.Tyr178* |
Nonsense |
6/9 |
- |
6 |
10-89711917-AG-GC |
c.535_536delinsGC |
p.Ser179Ala |
Missense |
6/9 |
- |
1 |
10-89711917-A-T |
c.535A>T |
p.Ser179Cys |
Missense |
6/9 |
- |
1 |
10-89711920-TAC-GAG |
c.538_540delinsGAG |
p.Tyr180Glu |
Missense |
6/9 |
- |
1 |
10-89711920-T-C |
c.538T>C |
p.Tyr180His |
Missense |
6/9 |
- |
2 |
10-89711921-A-T |
c.539A>T |
p.Tyr180Phe |
Missense |
6/9 |
- |
2 |
10-89711922-C-A |
c.540C>A |
p.Tyr180* |
Nonsense |
6/9 |
- |
5 |
10-89711922-C-G |
c.540C>G |
p.Tyr180* |
Nonsense |
6/9 |
- |
3 |
10-89711923-C-A |
c.541C>A |
p.Leu181Met |
Missense |
6/9 |
- |
1 |
10-89711923-CC-C |
c.541del |
p.Leu181Cysfs*2 |
Frameshift |
6/9 |
- |
1 |
10-89711924-T-C |
c.542T>C |
p.Leu181Pro |
Missense |
6/9 |
- |
2 |
10-89711924-T-A |
c.542T>A |
p.Leu181Gln |
Missense |
6/9 |
- |
1 |
10-89711927-T-C |
c.545T>C |
p.Leu182Ser |
Missense |
6/9 |
- |
4 |
10-89711928-A-C |
c.546A>C |
p.Leu182Phe |
Missense |
6/9 |
- |
1 |
10-89711928-A-T |
c.546A>T |
p.Leu182Phe |
Missense |
6/9 |
- |
1 |
10-89711930-A-G |
c.548A>G |
p.Lys183Arg |
Missense |
6/9 |
- |
1 |
10-89711931-G-A |
c.549G>A |
p.Lys183Lys |
Synonymous |
6/9 |
- |
1 |
10-89711935-C-T |
c.553C>T |
p.His185Tyr |
Missense |
6/9 |
- |
1 |
10-89711940-G-A |
c.558G>A |
p.Leu186Leu |
Synonymous |
6/9 |
- |
1 |
10-89711944-T-C |
c.562T>C |
p.Tyr188His |
Missense |
6/9 |
- |
1 |
10-89711945-A-G |
c.563A>G |
p.Tyr188Cys |
Missense |
6/9 |
- |
1 |
10-89711945-A-T |
c.563A>T |
p.Tyr188Phe |
Missense |
6/9 |
- |
1 |
10-89711947-A-T |
c.565A>T |
p.Arg189* |
Nonsense |
6/9 |
- |
3 |
10-89711948-G-C |
c.566G>C |
p.Arg189Thr |
Missense |
6/9 |
- |
1 |
10-89711948-G-A |
c.566G>A |
p.Arg189Lys |
Missense |
6/9 |
- |
2 |
10-89711949-A-C |
c.567A>C |
p.Arg189Ser |
Missense |
6/9 |
- |
1 |
10-89711949-A-T |
c.567A>T |
p.Arg189Ser |
Missense |
6/9 |
- |
1 |
10-89711950-C-G |
c.568C>G |
p.Pro190Ala |
Missense |
6/9 |
- |
3 |
10-89711951-C-CC |
c.569dup |
p.Val191Serfs*11 |
Frameshift |
6/9 |
- |
1 |
10-89711951-C-T |
c.569C>T |
p.Pro190Leu |
Missense |
6/9 |
- |
1 |
10-89711951-CC-C |
c.569del |
p.Pro190Glnfs*9 |
Frameshift |
6/9 |
- |
1 |
10-89711953-GT-TC |
c.571_572delinsTC |
p.Val191Ser |
Missense |
6/9 |
- |
1 |
10-89711954-T-G |
c.572T>G |
p.Val191Gly |
Missense |
6/9 |
- |
1 |
10-89711954-T-C |
c.572T>C |
p.Val191Ala |
Missense |
6/9 |
- |
1 |
10-89711956-G-A |
c.574G>A |
p.Ala192Thr |
Missense |
6/9 |
- |
1 |
10-89711960-CT-C |
c.578del |
p.Leu193Argfs*6 |
Frameshift |
6/9 |
- |
1 |
10-89711961-G-A |
c.579G>A |
p.Leu193Leu |
Synonymous |
6/9 |
- |
1 |
10-89711961-G-C |
c.579G>C |
p.Leu193Leu |
Synonymous |
6/9 |
- |
1 |
10-89711961-G-T |
c.579G>T |
p.Leu193Leu |
Synonymous |
6/9 |
- |
1 |
10-89711959-C-T |
c.577C>T |
p.Leu193Leu |
Synonymous |
6/9 |
- |
1 |
10-89711964-G-C |
c.582G>C |
p.Leu194Phe |
Missense |
6/9 |
- |
1 |
10-89711964-G-T |
c.582G>T |
p.Leu194Phe |
Missense |
6/9 |
- |
1 |
10-89711965-T-C |
c.583T>C |
p.Phe195Leu |
Missense |
6/9 |
- |
1 |
10-89711967-T-A |
c.585T>A |
p.Phe195Leu |
Missense |
6/9 |
- |
1 |
10-89711967-T-G |
c.585T>G |
p.Phe195Leu |
Missense |
6/9 |
- |
1 |
10-89711971-A-T |
c.589A>T |
p.Lys197* |
Nonsense |
6/9 |
- |
1 |
10-89711972-A-T |
c.590A>T |
p.Lys197Met |
Missense |
6/9 |
- |
2 |
10-89711974-GA-G |
c.592del |
p.Met198* |
Frameshift |
6/9 |
- |
1 |
10-89711975-T-A |
c.593T>A |
p.Met198Lys |
Missense |
6/9 |
- |
2 |
10-89711975-T-G |
c.593T>G |
p.Met198Arg |
Missense |
6/9 |
- |
1 |
10-89711978-T-G |
c.596T>G |
p.Met199Arg |
Missense |
6/9 |
- |
4 |
10-89711980-TT-GC |
c.598_599delinsGC |
p.Phe200Ala |
Missense |
6/9 |
- |
1 |
10-89711983-G-T |
c.601G>T |
p.Glu201* |
Nonsense |
6/9 |
- |
2 |
10-89711983-G-A |
c.601G>A |
p.Glu201Lys |
Missense |
6/9 |
- |
1 |
10-89711985-A-C |
c.603A>C |
p.Glu201Asp |
Missense |
6/9 |
- |
1 |
10-89711985-A-T |
c.603A>T |
p.Glu201Asp |
Missense |
6/9 |
- |
1 |
10-89711986-AC-TG |
c.604_605delinsTG |
p.Thr202Cys |
Missense |
6/9 |
- |
1 |
10-89711986-ACT-TAA |
c.604_606delinsTAA |
p.Thr202* |
Nonsense |
6/9 |
- |
1 |
10-89711986-A-AA |
c.604dup |
p.Thr202Asnfs*41 |
Frameshift |
6/9 |
- |
1 |
10-89711986-AC-TA |
c.604_605delinsTA |
p.Thr202Tyr |
Missense |
6/9 |
- |
1 |
10-89711987-C-T |
c.605C>T |
p.Thr202Ile |
Missense |
6/9 |
- |
4 |
10-89711989-TAT-T |
c.607_608del |
p.Ile203Serfs*39 |
Frameshift |
6/9 |
- |
1 |
10-89711992-C-T |
c.610C>T |
p.Pro204Ser |
Missense |
6/9 |
- |
3 |
10-89711995-A-G |
c.613A>G |
p.Met205Val |
Missense |
6/9 |
- |
3 |
10-89711995-AT-GC |
c.613_614delinsGC |
p.Met205Ala |
Missense |
6/9 |
- |
2 |
10-89711997-G-C |
c.615G>C |
p.Met205Ile |
Missense |
6/9 |
- |
1 |
10-89711997-G-A |
c.615G>A |
p.Met205Ile |
Missense |
6/9 |
- |
1 |
10-89711997-G-T |
c.615G>T |
p.Met205Ile |
Missense |
6/9 |
- |
1 |
10-89712001-A-C |
c.619A>C |
p.Ser207Arg |
Missense |
6/9 |
- |
1 |
10-89712003-T-A |
c.621T>A |
p.Ser207Arg |
Missense |
6/9 |
- |
1 |
10-89712003-T-G |
c.621T>G |
p.Ser207Arg |
Missense |
6/9 |
- |
1 |
10-89712004-G-C |
c.622G>C |
p.Gly208Arg |
Missense |
6/9 |
- |
1 |
10-89712007-G-T |
c.625G>T |
p.Gly209* |
Nonsense |
6/9 |
- |
1 |
10-89712007-GGA-AGC |
c.625_627delinsAGC |
p.Gly209Ser |
Missense |
6/9 |
- |
1 |
10-89712010-AC-GA |
c.628_629delinsGA |
p.Thr210Asp |
Missense |
6/9 |
- |
3 |
10-89712013-TGC-CAA |
c.631_633delinsCAA |
p.Cys211Gln |
Missense |
6/9 |
- |
1 |
10-89712013-TG-GC |
c.631_632delinsGC |
p.Cys211Ala |
Missense |
6/9 |
- |
1 |
10-89712014-G-A |
c.632G>A |
p.Cys211Tyr |
Missense |
6/9 |
- |
2 |
10-89712014-G-GG |
c.632dup |
p.Cys211Trpfs*32 |
SpliceDonorInsertion |
6/9 |
- |
1 |
10-89712014-TGC-T |
c.632_633del |
p.Cys211* |
SpliceDonorDeletion |
6/9 |
- |
1 |
10-89712015-C-G |
c.633C>G |
p.Cys211Trp |
Missense |
6/9 |
- |
3 |
10-89712015-C-A |
c.633C>A |
p.Cys211* |
Nonsense |
6/9 |
- |
7 |
10-89712016-A-G |
c.634A>G |
p.Asn212Asp |
Missense |
6/9 |
- |
1 |
10-89712017-G-C |
c.634+1G>C |
- |
IntronicSNV |
- |
6/8 |
1 |
10-89712018-T-C |
c.634+2T>C |
- |
IntronicSNV |
- |
6/8 |
2 |
10-89712020-A-T |
c.634+4A>T |
- |
IntronicSNV |
- |
6/8 |
1 |
10-89712021-G-C |
c.634+5G>C |
- |
IntronicSNV |
- |
6/8 |
1 |
10-89712021-G-A |
c.634+5G>A |
- |
IntronicSNV |
- |
6/8 |
1 |
10-89712473-G-A |
c.634+457G>A |
- |
IntronicSNV |
- |
6/8 |
3 |
10-89716107-T-C |
c.635-1503T>C |
- |
IntronicSNV |
- |
6/8 |
2 |
10-89717609-G-C |
c.635-1G>C |
- |
IntronicSNV |
- |
6/8 |
1 |
10-89717610-GA-G |
c.635del |
p.Asn212Ilefs*9 |
Frameshift |
7/9 |
- |
1 |
10-89717610-GATCCTCAG-G |
c.635_642del |
p.Asn212Ilefs*28 |
SpliceAcceptorDeletion |
7/9 |
- |
1 |
10-89717612-C-T |
c.637C>T |
p.Pro213Ser |
Missense |
7/9 |
- |
1 |
10-89717615-C-T |
c.640C>T |
p.Gln214* |
Nonsense |
7/9 |
- |
11 |
10-89717616-A-T |
c.641A>T |
p.Gln214Leu |
Missense |
7/9 |
- |
1 |
10-89717616-CA-C |
c.641del |
p.Gln214Argfs*7 |
Frameshift |
7/9 |
- |
1 |
10-89717617-G-C |
c.642G>C |
p.Gln214His |
Missense |
7/9 |
- |
1 |
10-89717617-G-T |
c.642G>T |
p.Gln214His |
Missense |
7/9 |
- |
1 |
10-89717619-T-G |
c.644T>G |
p.Phe215Cys |
Missense |
7/9 |
- |
1 |
10-89717624-G-T |
c.649G>T |
p.Val217Phe |
Missense |
7/9 |
- |
1 |
10-89717625-T-A |
c.650T>A |
p.Val217Asp |
Missense |
7/9 |
- |
2 |
10-89717627-TG-GC |
c.652_653delinsGC |
p.Cys218Ala |
Missense |
7/9 |
- |
1 |
10-89717628-G-A |
c.653G>A |
p.Cys218Tyr |
Missense |
7/9 |
- |
1 |
10-89717629-C-A |
c.654C>A |
p.Cys218* |
Nonsense |
7/9 |
- |
2 |
10-89717629-C-T |
c.654C>T |
p.Cys218Cys |
Synonymous |
7/9 |
- |
2 |
10-89717630-C-T |
c.655C>T |
p.Gln219* |
Nonsense |
7/9 |
- |
5 |
10-89717632-G-GG |
c.657dup |
p.Leu220Alafs*23 |
Frameshift |
7/9 |
- |
1 |
10-89717633-C-G |
c.658C>G |
p.Leu220Val |
Missense |
7/9 |
- |
2 |
10-89717637-AA-A |
c.662del |
p.Lys221Argfs*2 |
Frameshift |
7/9 |
- |
1 |
10-89717637-A-G |
c.662A>G |
p.Lys221Arg |
Missense |
7/9 |
- |
1 |
10-89717638-G-C |
c.663G>C |
p.Lys221Asn |
Missense |
7/9 |
- |
1 |
10-89717638-G-T |
c.663G>T |
p.Lys221Asn |
Missense |
7/9 |
- |
1 |
10-89717641-G-GT |
c.666_667insT |
p.Lys223* |
Nonsense |
7/9 |
- |
1 |
10-89717642-A-T |
c.667A>T |
p.Lys223* |
Nonsense |
7/9 |
- |
1 |
10-89717647-A-AA |
c.672dup |
p.Tyr225Ilefs*18 |
Frameshift |
7/9 |
- |
2 |
10-89717649-A-G |
c.674A>G |
p.Tyr225Cys |
Missense |
7/9 |
- |
2 |
10-89717650-T-A |
c.675T>A |
p.Tyr225* |
Nonsense |
7/9 |
- |
2 |
10-89717650-T-G |
c.675T>G |
p.Tyr225* |
Nonsense |
7/9 |
- |
1 |
10-89717651-T-G |
c.676T>G |
p.Ser226Ala |
Missense |
7/9 |
- |
1 |
10-89717653-CC-C |
c.678del |
p.Ser227Profs*29 |
Frameshift |
7/9 |
- |
2 |
10-89717655-C-T |
c.680C>T |
p.Ser227Phe |
Missense |
7/9 |
- |
2 |
10-89717660-TCA-GAC |
c.685_687delinsGAC |
p.Ser229Asp |
Missense |
7/9 |
- |
1 |
10-89717660-T-G |
c.685T>G |
p.Ser229Ala |
Missense |
7/9 |
- |
2 |
10-89717661-C-T |
c.686C>T |
p.Ser229Leu |
Missense |
7/9 |
- |
1 |
10-89717661-C-A |
c.686C>A |
p.Ser229* |
Nonsense |
7/9 |
- |
4 |
10-89717663-G-T |
c.688G>T |
p.Gly230* |
Nonsense |
7/9 |
- |
2 |
10-89717666-CC-GA |
c.691_692delinsGA |
p.Pro231Asp |
Missense |
7/9 |
- |
1 |
10-89717669-A-G |
c.694A>G |
p.Thr232Ala |
Missense |
7/9 |
- |
1 |
10-89717671-A-AA |
c.696dup |
p.Arg233Thrfs*10 |
Frameshift |
7/9 |
- |
1 |
10-89717672-C-A |
c.697C>A |
p.Arg233Arg |
Synonymous |
7/9 |
- |
1 |
10-89717672-C-T |
c.697C>T |
p.Arg233* |
Nonsense |
7/9 |
- |
72 |
10-89717672-CG-GC |
c.697_698delinsGC |
p.Arg233Ala |
Missense |
7/9 |
- |
1 |
10-89717672-CG-AC |
c.697_698delinsAC |
p.Arg233Thr |
Missense |
7/9 |
- |
1 |
10-89717673-G-A |
c.698G>A |
p.Arg233Gln |
Missense |
7/9 |
- |
4 |
10-89717673-G-T |
c.698G>T |
p.Arg233Leu |
Missense |
7/9 |
- |
1 |
10-89717675-C-T |
c.700C>T |
p.Arg234Trp |
Missense |
7/9 |
- |
3 |
10-89717675-C-CCTGGAGCCGAC |
c.700_701insCTGGAGCCGAC |
p.Arg234Profs*26 |
Frameshift |
7/9 |
- |
1 |
10-89717676-G-A |
c.701G>A |
p.Arg234Gln |
Missense |
7/9 |
- |
11 |
10-89717676-G-T |
c.701G>T |
p.Arg234Leu |
Missense |
7/9 |
- |
1 |
10-89717678-GG-G |
c.703del |
p.Glu235Lysfs*21 |
Frameshift |
7/9 |
- |
1 |
10-89717681-G-GG |
c.706dup |
p.Asp236Glyfs*7 |
Frameshift |
7/9 |
- |
1 |
10-89717682-GACAAGTTCATGTAC-G |
c.707_720del |
p.Asp236Valfs*2 |
Frameshift |
7/9 |
- |
1 |
10-89717683-C-T |
c.708C>T |
p.Asp236Asp |
Synonymous |
7/9 |
- |
1 |
10-89717684-CAAGTTCA-C |
c.709_715del |
p.Lys237Cysfs*17 |
Frameshift |
7/9 |
- |
1 |
10-89717684-AA-GC |
c.709_710delinsGC |
p.Lys237Ala |
Missense |
7/9 |
- |
1 |
10-89717684-A-G |
c.709A>G |
p.Lys237Glu |
Missense |
7/9 |
- |
1 |
10-89717691-T-C |
c.716T>C |
p.Met239Thr |
Missense |
7/9 |
- |
1 |
10-89717693-TAC-GAG |
c.718_720delinsGAG |
p.Tyr240Glu |
Missense |
7/9 |
- |
1 |
10-89717694-A-T |
c.719A>T |
p.Tyr240Phe |
Missense |
7/9 |
- |
5 |
10-89717695-C-A |
c.720C>A |
p.Tyr240* |
Nonsense |
7/9 |
- |
2 |
10-89717696-T-C |
c.721T>C |
p.Phe241Leu |
Missense |
7/9 |
- |
1 |
10-89717698-T-A |
c.723T>A |
p.Phe241Leu |
Missense |
7/9 |
- |
1 |
10-89717698-T-G |
c.723T>G |
p.Phe241Leu |
Missense |
7/9 |
- |
1 |
10-89717697-T-C |
c.722T>C |
p.Phe241Ser |
Missense |
7/9 |
- |
12 |
10-89717698-T-TT |
c.723dup |
p.Glu242* |
Nonsense |
7/9 |
- |
3 |
10-89717699-TGAGTTCCCTCAGCCGTT-T |
c.724_740del |
p.Glu242Thrfs*5 |
Frameshift |
7/9 |
- |
1 |
10-89717699-G-T |
c.724G>T |
p.Glu242* |
Nonsense |
7/9 |
- |
1 |
10-89717705-C-T |
c.730C>T |
p.Pro244Ser |
Missense |
7/9 |
- |
1 |
10-89717706-CCTCAGCC-C |
c.731_737del |
p.Pro244Argfs*10 |
Frameshift |
7/9 |
- |
1 |
10-89717706-C-T |
c.731C>T |
p.Pro244Leu |
Missense |
7/9 |
- |
1 |
10-89717708-C-T |
c.733C>T |
p.Gln245* |
Nonsense |
7/9 |
- |
7 |
10-89717708-CA-AC |
c.733_734delinsAC |
p.Gln245Thr |
Missense |
7/9 |
- |
1 |
10-89717708-CAG-TAT |
c.733_735delinsTAT |
p.Gln245Tyr |
Missense |
7/9 |
- |
1 |
10-89717709-CA-C |
c.734del |
p.Gln245Argfs*11 |
Frameshift |
7/9 |
- |
1 |
10-89717709-CAGCC-C |
c.734_737del |
p.Gln245Argfs*10 |
Frameshift |
7/9 |
- |
1 |
10-89717711-C-T |
c.736C>T |
p.Pro246Ser |
Missense |
7/9 |
- |
1 |
10-89717711-C-CAG |
c.736_737insAG |
p.Pro246Glnfs*11 |
Frameshift |
7/9 |
- |
1 |
10-89717712-C-T |
c.737C>T |
p.Pro246Leu |
Missense |
7/9 |
- |
20 |
10-89717712-C-A |
c.737C>A |
p.Pro246Gln |
Missense |
7/9 |
- |
1 |
10-89717712-C-CAAG |
c.737_738insAAG |
p.Pro246_Leu247insArg |
InFrameInsertion |
7/9 |
- |
1 |
10-89717713-CG-C |
c.738del |
p.Leu247Tyrfs*9 |
Frameshift |
7/9 |
- |
1 |
10-89717714-TT-GA |
c.739_740delinsGA |
p.Leu247Glu |
Missense |
7/9 |
- |
1 |
10-89717715-T-C |
c.740T>C |
p.Leu247Ser |
Missense |
7/9 |
- |
1 |
10-89717716-A-AA |
c.741dup |
p.Pro248Thrfs*5 |
Frameshift |
7/9 |
- |
6 |
10-89717716-A-C |
c.741A>C |
p.Leu247Phe |
Missense |
7/9 |
- |
1 |
10-89717716-A-T |
c.741A>T |
p.Leu247Phe |
Missense |
7/9 |
- |
1 |
10-89717717-C-T |
c.742C>T |
p.Pro248Ser |
Missense |
7/9 |
- |
2 |
10-89717720-G-A |
c.745G>A |
p.Val249Met |
Missense |
7/9 |
- |
3 |
10-89717720-GT-TA |
c.745_746delinsTA |
p.Val249* |
Nonsense |
7/9 |
- |
2 |
10-89717721-T-C |
c.746T>C |
p.Val249Ala |
Missense |
7/9 |
- |
1 |
10-89717723-TG-GC |
c.748_749delinsGC |
p.Cys250Ala |
Missense |
7/9 |
- |
2 |
10-89717723-TG-AC |
c.748_749delinsAC |
p.Cys250Thr |
Missense |
7/9 |
- |
51 |
10-89717723-GTGT-G |
c.748_750del |
p.Cys250del |
InFrameDeletion |
7/9 |
- |
1 |
10-89717724-G-T |
c.749G>T |
p.Cys250Phe |
Missense |
7/9 |
- |
1 |
10-89717725-GTG-G |
c.750_751del |
p.Cys250Trpfs*2 |
Frameshift |
7/9 |
- |
1 |
10-89717725-T-G |
c.750T>G |
p.Cys250Trp |
Missense |
7/9 |
- |
1 |
10-89717726-G-T |
c.751G>T |
p.Gly251Cys |
Missense |
7/9 |
- |
5 |
10-89717726-GG-CT |
c.751_752delinsCT |
p.Gly251Leu |
Missense |
7/9 |
- |
1 |
10-89717727-G-T |
c.752G>T |
p.Gly251Val |
Missense |
7/9 |
- |
2 |
10-89717727-GT-AG |
c.752_753delinsAG |
p.Gly251Glu |
Missense |
7/9 |
- |
1 |
10-89717729-GAT-AAG |
c.754_756delinsAAG |
p.Asp252Lys |
Missense |
7/9 |
- |
1 |
10-89717729-G-A |
c.754G>A |
p.Asp252Asn |
Missense |
7/9 |
- |
3 |
10-89717729-G-T |
c.754G>T |
p.Asp252Tyr |
Missense |
7/9 |
- |
2 |
10-89717730-A-G |
c.755A>G |
p.Asp252Gly |
Missense |
7/9 |
- |
12 |
10-89717730-A-T |
c.755A>T |
p.Asp252Val |
Missense |
7/9 |
- |
2 |
10-89717732-A-T |
c.757A>T |
p.Ile253Phe |
Missense |
7/9 |
- |
1 |
10-89717732-A-AA |
c.757dup |
p.Ile253Asnfs*45 |
Frameshift |
7/9 |
- |
1 |
10-89717732-ATC-TGG |
c.757_759delinsTGG |
p.Ile253Trp |
Missense |
7/9 |
- |
1 |
10-89717733-T-G |
c.758T>G |
p.Ile253Ser |
Missense |
7/9 |
- |
1 |
10-89717733-T-A |
c.758T>A |
p.Ile253Asn |
Missense |
7/9 |
- |
3 |
10-89717735-A-T |
c.760A>T |
p.Lys254* |
Nonsense |
7/9 |
- |
1 |
10-89717736-A-C |
c.761A>C |
p.Lys254Thr |
Missense |
7/9 |
- |
1 |
10-89717736-A-G |
c.761A>G |
p.Lys254Arg |
Missense |
7/9 |
- |
6 |
10-89717737-A-AA |
c.762dup |
p.Val255Serfs*43 |
Frameshift |
7/9 |
- |
2 |
10-89717738-G-A |
c.763G>A |
p.Val255Ile |
Missense |
7/9 |
- |
1 |
10-89717738-GT-TA |
c.763_764delinsTA |
p.Val255* |
Nonsense |
7/9 |
- |
1 |
10-89717739-T-C |
c.764T>C |
p.Val255Ala |
Missense |
7/9 |
- |
3 |
10-89717740-A-AA |
c.765dup |
p.Glu256Argfs*42 |
Frameshift |
7/9 |
- |
1 |
10-89717741-G-A |
c.766G>A |
p.Glu256Lys |
Missense |
7/9 |
- |
3 |
10-89717741-G-T |
c.766G>T |
p.Glu256* |
Nonsense |
7/9 |
- |
1 |
10-89717742-A-G |
c.767A>G |
p.Glu256Gly |
Missense |
7/9 |
- |
1 |
10-89717746-C-G |
c.771C>G |
p.Phe257Leu |
Missense |
7/9 |
- |
1 |
10-89717744-T-C |
c.769T>C |
p.Phe257Leu |
Missense |
7/9 |
- |
1 |
10-89717746-C-A |
c.771C>A |
p.Phe257Leu |
Missense |
7/9 |
- |
1 |
10-89717745-T-C |
c.770T>C |
p.Phe257Ser |
Missense |
7/9 |
- |
1 |
10-89717749-C-A |
c.774C>A |
p.Phe258Leu |
Missense |
7/9 |
- |
1 |
10-89717749-C-G |
c.774C>G |
p.Phe258Leu |
Missense |
7/9 |
- |
1 |
10-89717747-T-C |
c.772T>C |
p.Phe258Leu |
Missense |
7/9 |
- |
1 |
10-89717748-TC-AA |
c.773_774delinsAA |
p.Phe258* |
Nonsense |
7/9 |
- |
1 |
10-89717753-A-T |
c.778A>T |
p.Lys260* |
Nonsense |
7/9 |
- |
1 |
10-89717753-AA-GC |
c.778_779delinsGC |
p.Lys260Ala |
Missense |
7/9 |
- |
2 |
10-89717753-A-AG |
c.778_779insG |
p.Lys260Argfs*38 |
Frameshift |
7/9 |
- |
1 |
10-89717753-AAA-GAC |
c.778_780delinsGAC |
p.Lys260Asp |
Missense |
7/9 |
- |
1 |
10-89717754-A-G |
c.779A>G |
p.Lys260Arg |
Missense |
7/9 |
- |
1 |
10-89717756-C-T |
c.781C>T |
p.Gln261* |
Nonsense |
7/9 |
- |
2 |
10-89717759-A-T |
c.784A>T |
p.Asn262Tyr |
Missense |
7/9 |
- |
5 |
10-89717762-AA-GC |
c.787_788delinsGC |
p.Lys263Ala |
Missense |
7/9 |
- |
3 |
10-89717763-A-G |
c.788A>G |
p.Lys263Arg |
Missense |
7/9 |
- |
2 |
10-89717765-AT-GC |
c.790_791delinsGC |
p.Met264Ala |
Missense |
7/9 |
- |
1 |
10-89717765-A-G |
c.790A>G |
p.Met264Val |
Missense |
7/9 |
- |
1 |
10-89717766-T-G |
c.791T>G |
p.Met264Arg |
Missense |
7/9 |
- |
1 |
10-89717767-G-A |
c.792G>A |
p.Met264Ile |
Missense |
7/9 |
- |
3 |
10-89717768-CT-GG |
c.793_794delinsGG |
p.Leu265Gly |
Missense |
7/9 |
- |
2 |
10-89717769-T-C |
c.794T>C |
p.Leu265Pro |
Missense |
7/9 |
- |
1 |
10-89717771-AA-GC |
c.796_797delinsGC |
p.Lys266Ala |
Missense |
7/9 |
- |
4 |
10-89717771-AAA-GAC |
c.796_798delinsGAC |
p.Lys266Asp |
Missense |
7/9 |
- |
1 |
10-89717771-A-T |
c.796A>T |
p.Lys266* |
Nonsense |
7/9 |
- |
1 |
10-89717772-A-G |
c.797A>G |
p.Lys266Arg |
Missense |
7/9 |
- |
4 |
10-89717773-A-C |
c.798A>C |
p.Lys266Asn |
Missense |
7/9 |
- |
2 |
10-89717773-A-T |
c.798A>T |
p.Lys266Asn |
Missense |
7/9 |
- |
2 |
10-89717773-A-AT |
c.798_799insT |
p.Lys267* |
Nonsense |
7/9 |
- |
2 |
10-89717774-A-C |
c.799A>C |
p.Lys267Gln |
Missense |
7/9 |
- |
1 |
10-89717774-A-AC |
c.799_800insC |
p.Lys267Thrfs*31 |
SpliceDonorInsertion |
7/9 |
- |
2 |
10-89717774-AA-GC |
c.799_800delinsGC |
p.Lys267Ala |
Missense |
7/9 |
- |
3 |
10-89717775-AA-A |
c.800del |
p.Lys267Argfs*9 |
Frameshift |
7/9 |
- |
19 |
10-89717775-AAG-A |
c.800_801del |
p.Lys267Argfs*30 |
SpliceDonorDeletion |
7/9 |
- |
2 |
10-89717775-A-G |
c.800A>G |
p.Lys267Arg |
Missense |
7/9 |
- |
2 |
10-89717776-G-C |
c.801G>C |
p.Lys267Asn |
Missense |
7/9 |
- |
1 |
10-89717776-G-T |
c.801G>T |
p.Lys267Asn |
Missense |
7/9 |
- |
1 |
10-89717777-GG-G |
c.801+1del |
- |
IntronicDeletion |
- |
7/8 |
2 |
10-89717799-G-A |
c.801+23G>A |
- |
IntronicSNV |
- |
7/8 |
1 |
10-89720251-T-C |
c.802-400T>C |
- |
IntronicSNV |
- |
7/8 |
3 |
10-89720649-A-G |
c.802-2A>G |
- |
IntronicSNV |
- |
7/8 |
1 |
10-89720649-A-T |
c.802-2A>T |
- |
IntronicSNV |
- |
7/8 |
3 |
10-89720650-G-C |
c.802-1G>C |
- |
IntronicSNV |
- |
7/8 |
1 |
10-89720651-GG-G |
c.802del |
p.Asp268Thrfs*8 |
Frameshift |
8/9 |
- |
2 |
10-89720653-C-A |
c.804C>A |
p.Asp268Glu |
Missense |
8/9 |
- |
3 |
10-89720654-AA-GC |
c.805_806delinsGC |
p.Lys269Ala |
Missense |
8/9 |
- |
3 |
10-89720654-A-G |
c.805A>G |
p.Lys269Glu |
Missense |
8/9 |
- |
2 |
10-89720654-A-C |
c.805A>C |
p.Lys269Gln |
Missense |
8/9 |
- |
1 |
10-89720654-A-T |
c.805A>T |
p.Lys269* |
Nonsense |
8/9 |
- |
1 |
10-89720654-AAA-GAC |
c.805_807delinsGAC |
p.Lys269Asp |
Missense |
8/9 |
- |
1 |
10-89720659-G-T |
c.810G>T |
p.Met270Ile |
Missense |
8/9 |
- |
3 |
10-89720662-T-G |
c.813T>G |
p.Phe271Leu |
Missense |
8/9 |
- |
1 |
10-89720662-T-A |
c.813T>A |
p.Phe271Leu |
Missense |
8/9 |
- |
1 |
10-89720660-TT-GA |
c.811_812delinsGA |
p.Phe271Asp |
Missense |
8/9 |
- |
1 |
10-89720660-T-G |
c.811T>G |
p.Phe271Val |
Missense |
8/9 |
- |
1 |
10-89720660-T-C |
c.811T>C |
p.Phe271Leu |
Missense |
8/9 |
- |
1 |
10-89720661-T-C |
c.812T>C |
p.Phe271Ser |
Missense |
8/9 |
- |
1 |
10-89720663-C-T |
c.814C>T |
p.His272Tyr |
Missense |
8/9 |
- |
2 |
10-89720668-T-A |
c.819T>A |
p.Phe273Leu |
Missense |
8/9 |
- |
1 |
10-89720668-T-G |
c.819T>G |
p.Phe273Leu |
Missense |
8/9 |
- |
1 |
10-89720666-T-C |
c.817T>C |
p.Phe273Leu |
Missense |
8/9 |
- |
1 |
10-89720666-TT-GC |
c.817_818delinsGC |
p.Phe273Ala |
Missense |
8/9 |
- |
1 |
10-89720671-G-A |
c.822G>A |
p.Trp274* |
Nonsense |
8/9 |
- |
5 |
10-89720670-G-T |
c.821G>T |
p.Trp274Leu |
Missense |
8/9 |
- |
3 |
10-89720671-G-GTA |
c.822_823insTA |
p.Val275* |
Nonsense |
8/9 |
- |
2 |
10-89720672-GG-G |
c.823del |
p.Val275* |
Frameshift |
8/9 |
- |
3 |
10-89720676-A-G |
c.827A>G |
p.Asn276Ser |
Missense |
8/9 |
- |
4 |
10-89720677-T-G |
c.828T>G |
p.Asn276Lys |
Missense |
8/9 |
- |
1 |
10-89720677-T-A |
c.828T>A |
p.Asn276Lys |
Missense |
8/9 |
- |
1 |
10-89720678-A-G |
c.829A>G |
p.Thr277Ala |
Missense |
8/9 |
- |
3 |
10-89720679-C-T |
c.830C>T |
p.Thr277Ile |
Missense |
8/9 |
- |
2 |
10-89720679-C-G |
c.830C>G |
p.Thr277Arg |
Missense |
8/9 |
- |
1 |
10-89720681-T-C |
c.832T>C |
p.Phe278Leu |
Missense |
8/9 |
- |
1 |
10-89720683-C-A |
c.834C>A |
p.Phe278Leu |
Missense |
8/9 |
- |
1 |
10-89720683-C-G |
c.834C>G |
p.Phe278Leu |
Missense |
8/9 |
- |
1 |
10-89720682-T-C |
c.833T>C |
p.Phe278Ser |
Missense |
8/9 |
- |
1 |
10-89720687-A-G |
c.838A>G |
p.Ile280Val |
Missense |
8/9 |
- |
1 |
10-89720691-C-T |
c.842C>T |
p.Pro281Leu |
Missense |
8/9 |
- |
1 |
10-89720692-CAGGACCAGAGGAAACC-C |
c.843_858del |
p.Gly282Glnfs*4 |
Frameshift |
8/9 |
- |
1 |
10-89720698-CA-C |
c.849del |
p.Glu284Argfs*7 |
Frameshift |
8/9 |
- |
1 |
10-89720699-G-T |
c.850G>T |
p.Glu284* |
Nonsense |
8/9 |
- |
1 |
10-89720700-GAG-G |
c.851_852del |
p.Glu284Glyfs*13 |
Frameshift |
8/9 |
- |
1 |
10-89720702-G-A |
c.853G>A |
p.Glu285Lys |
Missense |
8/9 |
- |
1 |
10-89720702-G-T |
c.853G>T |
p.Glu285* |
Nonsense |
8/9 |
- |
1 |
10-89720705-A-G |
c.856A>G |
p.Thr286Ala |
Missense |
8/9 |
- |
14 |
10-89720711-AG-A |
c.862del |
p.Glu288Lysfs*3 |
Frameshift |
8/9 |
- |
1 |
10-89720711-G-T |
c.862G>T |
p.Glu288* |
Nonsense |
8/9 |
- |
2 |
10-89720712-A-T |
c.863A>T |
p.Glu288Val |
Missense |
8/9 |
- |
1 |
10-89720714-A-G |
c.865A>G |
p.Lys289Glu |
Missense |
8/9 |
- |
31 |
10-89720715-A-G |
c.866A>G |
p.Lys289Arg |
Missense |
8/9 |
- |
6 |
10-89720716-A-ATA |
c.867_868insTA |
p.Val290* |
Nonsense |
8/9 |
- |
1 |
10-89720716-AAG-A |
c.867_868del |
p.Lys289Asnfs*8 |
Frameshift |
8/9 |
- |
1 |
10-89720716-A-G |
c.867A>G |
p.Lys289Lys |
Synonymous |
8/9 |
- |
1 |
10-89720716-AA-A |
c.867del |
p.Val290* |
Frameshift |
8/9 |
- |
2 |
10-89720717-GTA-ATG |
c.868_870delinsATG |
p.Val290Met |
Missense |
8/9 |
- |
1 |
10-89720717-GT-TA |
c.868_869delinsTA |
p.Val290* |
Nonsense |
8/9 |
- |
1 |
10-89720729-AA-A |
c.880del |
p.Ser294Valfs*13 |
Frameshift |
8/9 |
- |
1 |
10-89720731-T-G |
c.882T>G |
p.Ser294Arg |
Missense |
8/9 |
- |
2 |
10-89720731-T-C |
c.882T>C |
p.Ser294Ser |
Synonymous |
8/9 |
- |
1 |
10-89720732-C-CC |
c.883dup |
p.Leu295Profs*3 |
Frameshift |
8/9 |
- |
1 |
10-89720732-CT-TA |
c.883_884delinsTA |
p.Leu295* |
Nonsense |
8/9 |
- |
1 |
10-89720733-T-TT |
c.884dup |
p.Cys296Metfs*2 |
Frameshift |
8/9 |
- |
1 |
10-89720735-TG-GC |
c.886_887delinsGC |
p.Cys296Ala |
Missense |
8/9 |
- |
1 |
10-89720737-T-A |
c.888T>A |
p.Cys296* |
Nonsense |
8/9 |
- |
1 |
10-89720741-C-T |
c.892C>T |
p.Gln298* |
Nonsense |
8/9 |
- |
6 |
10-89720741-C-G |
c.892C>G |
p.Gln298Glu |
Missense |
8/9 |
- |
2 |
10-89720744-G-T |
c.895G>T |
p.Glu299* |
Nonsense |
8/9 |
- |
2 |
10-89720748-ATC-A |
c.899_900del |
p.Ile300Argfs*2 |
Frameshift |
8/9 |
- |
1 |
10-89720750-G-A |
c.901G>A |
p.Asp301Asn |
Missense |
8/9 |
- |
2 |
10-89720752-T-C |
c.903T>C |
p.Asp301Asp |
Synonymous |
8/9 |
- |
1 |
10-89720753-A-G |
c.904A>G |
p.Ser302Gly |
Missense |
8/9 |
- |
1 |
10-89720753-AG-GC |
c.904_905delinsGC |
p.Ser302Ala |
Missense |
8/9 |
- |
2 |
10-89720753-AGC-GAG |
c.904_906delinsGAG |
p.Ser302Glu |
Missense |
8/9 |
- |
1 |
10-89720756-ATT-GAG |
c.907_909delinsGAG |
p.Ile303Glu |
Missense |
8/9 |
- |
1 |
10-89720759-TG-GC |
c.910_911delinsGC |
p.Cys304Ala |
Missense |
8/9 |
- |
1 |
10-89720762-A-AT |
c.913_914insT |
p.Ser305Metfs*7 |
Frameshift |
8/9 |
- |
1 |
10-89720766-ATA-A |
c.917_918del |
p.Ile306Argfs*5 |
Frameshift |
8/9 |
- |
1 |
10-89720768-G-A |
c.919G>A |
p.Glu307Lys |
Missense |
8/9 |
- |
7 |
10-89720771-CGT-TGA |
c.922_924delinsTGA |
p.Arg308* |
Nonsense |
8/9 |
- |
1 |
10-89720771-CGT-GAG |
c.922_924delinsGAG |
p.Arg308Glu |
Missense |
8/9 |
- |
1 |
10-89720772-G-A |
c.923G>A |
p.Arg308His |
Missense |
8/9 |
- |
1 |
10-89720774-GC-TA |
c.925_926delinsTA |
p.Ala309* |
Nonsense |
8/9 |
- |
1 |
10-89720775-C-CCC |
c.926_927insCC |
p.Asp310Glnfs*8 |
Frameshift |
8/9 |
- |
1 |
10-89720777-G-C |
c.928G>C |
p.Asp310His |
Missense |
8/9 |
- |
1 |
10-89720778-A-G |
c.929A>G |
p.Asp310Gly |
Missense |
8/9 |
- |
2 |
10-89720779-ATA-A |
c.930_931del |
p.Asp310Glufs*2 |
Frameshift |
8/9 |
- |
1 |
10-89720780-A-C |
c.931A>C |
p.Asn311His |
Missense |
8/9 |
- |
1 |
10-89720780-AA-GC |
c.931_932delinsGC |
p.Asn311Ala |
Missense |
8/9 |
- |
1 |
10-89720783-G-A |
c.934G>A |
p.Asp312Asn |
Missense |
8/9 |
- |
1 |
10-89720786-AA-GC |
c.937_938delinsGC |
p.Lys313Ala |
Missense |
8/9 |
- |
1 |
10-89720787-A-G |
c.938A>G |
p.Lys313Arg |
Missense |
8/9 |
- |
2 |
10-89720788-AGGAA-A |
c.939_942del |
p.Lys313Asnfs*3 |
Frameshift |
8/9 |
- |
1 |
10-89720789-G-GG |
c.940dup |
p.Glu314Glyfs*11 |
Frameshift |
8/9 |
- |
1 |
10-89720789-G-T |
c.940G>T |
p.Glu314* |
Nonsense |
8/9 |
- |
3 |
10-89720793-A-T |
c.944A>T |
p.Tyr315Phe |
Missense |
8/9 |
- |
5 |
10-89720794-T-A |
c.945T>A |
p.Tyr315* |
Nonsense |
8/9 |
- |
1 |
10-89720798-GT-TA |
c.949_950delinsTA |
p.Val317* |
Nonsense |
8/9 |
- |
1 |
10-89720803-T-TTA |
c.954_955insTA |
p.Thr319* |
Nonsense |
8/9 |
- |
2 |
10-89720804-ACT-TAA |
c.955_957delinsTAA |
p.Thr319* |
Nonsense |
8/9 |
- |
4 |
10-89720804-A-AA |
c.955dup |
p.Thr319Asnfs*6 |
Frameshift |
8/9 |
- |
5 |
10-89720804-A-G |
c.955A>G |
p.Thr319Ala |
Missense |
8/9 |
- |
2 |
10-89720804-ACT-GAG |
c.955_957delinsGAG |
p.Thr319Glu |
Missense |
8/9 |
- |
1 |
10-89720804-AC-TA |
c.955_956delinsTA |
p.Thr319Tyr |
Missense |
8/9 |
- |
1 |
10-89720804-TACTT-T |
c.955_958del |
p.Thr319* |
Frameshift |
8/9 |
- |
11 |
10-89720805-ACTTT-A |
c.956_959del |
p.Thr319Lysfs*24 |
Frameshift |
8/9 |
- |
1 |
10-89720806-T-G |
c.957T>G |
p.Thr319Thr |
Synonymous |
8/9 |
- |
2 |
10-89720806-T-C |
c.957T>C |
p.Thr319Thr |
Synonymous |
8/9 |
- |
2 |
10-89720806-T-A |
c.957T>A |
p.Thr319Thr |
Synonymous |
8/9 |
- |
2 |
10-89720807-TTA-GAC |
c.958_960delinsGAC |
p.Leu320Asp |
Missense |
8/9 |
- |
1 |
10-89720807-TT-GC |
c.958_959delinsGC |
p.Leu320Ala |
Missense |
8/9 |
- |
1 |
10-89720807-TT-GA |
c.958_959delinsGA |
p.Leu320Glu |
Missense |
8/9 |
- |
1 |
10-89720808-T-A |
c.959T>A |
p.Leu320* |
Nonsense |
8/9 |
- |
5 |
10-89720808-T-G |
c.959T>G |
p.Leu320* |
Nonsense |
8/9 |
- |
7 |
10-89720808-T-C |
c.959T>C |
p.Leu320Ser |
Missense |
8/9 |
- |
5 |
10-89720810-A-G |
c.961A>G |
p.Thr321Ala |
Missense |
8/9 |
- |
3 |
10-89720810-AC-GA |
c.961_962delinsGA |
p.Thr321Glu |
Missense |
8/9 |
- |
1 |
10-89720811-C-CTGACAAGGAATATCTAGTACTT |
c.962_963insTGACAAGGAATATCTAGTACTT |
p.Lys322Aspfs*10 |
Frameshift |
8/9 |
- |
1 |
10-89720813-A-T |
c.964A>T |
p.Lys322* |
Nonsense |
8/9 |
- |
1 |
10-89720814-A-G |
c.965A>G |
p.Lys322Arg |
Missense |
8/9 |
- |
2 |
10-89720815-A-AT |
c.966_967insT |
p.Asn323* |
Nonsense |
8/9 |
- |
1 |
10-89720817-AA-A |
c.968del |
p.Asn323Metfs*21 |
Frameshift |
8/9 |
- |
4 |
10-89720817-A-AA |
c.968dup |
p.Asn323Lysfs*2 |
Frameshift |
8/9 |
- |
8 |
10-89720819-G-GG |
c.970dup |
p.Asp324Glyfs*3 |
Frameshift |
8/9 |
- |
1 |
10-89720822-C-T |
c.973C>T |
p.Leu325Phe |
Missense |
8/9 |
- |
4 |
10-89720823-T-G |
c.974T>G |
p.Leu325Arg |
Missense |
8/9 |
- |
2 |
10-89720825-G-A |
c.976G>A |
p.Asp326Asn |
Missense |
8/9 |
- |
10 |
10-89720826-A-G |
c.977A>G |
p.Asp326Gly |
Missense |
8/9 |
- |
1 |
10-89720828-AA-GC |
c.979_980delinsGC |
p.Lys327Ala |
Missense |
8/9 |
- |
2 |
10-89720828-AAA-GAC |
c.979_981delinsGAC |
p.Lys327Asp |
Missense |
8/9 |
- |
1 |
10-89720828-A-G |
c.979A>G |
p.Lys327Glu |
Missense |
8/9 |
- |
1 |
10-89720832-C-A |
c.983C>A |
p.Ala328Glu |
Missense |
8/9 |
- |
1 |
10-89720832-C-T |
c.983C>T |
p.Ala328Val |
Missense |
8/9 |
- |
1 |
10-89720834-A-C |
c.985A>C |
p.Asn329His |
Missense |
8/9 |
- |
5 |
10-89720835-A-T |
c.986A>T |
p.Asn329Ile |
Missense |
8/9 |
- |
1 |
10-89720836-ATAAA-A |
c.987_990del |
p.Asn329Lysfs*14 |
Frameshift |
8/9 |
- |
2 |
10-89720836-T-TT |
c.987dup |
p.Lys330* |
Nonsense |
8/9 |
- |
2 |
10-89720837-AA-GC |
c.988_989delinsGC |
p.Lys330Ala |
Missense |
8/9 |
- |
2 |
10-89720837-AAA-GAC |
c.988_990delinsGAC |
p.Lys330Asp |
Missense |
8/9 |
- |
1 |
10-89720837-A-G |
c.988A>G |
p.Lys330Glu |
Missense |
8/9 |
- |
1 |
10-89720840-G-A |
c.991G>A |
p.Asp331Asn |
Missense |
8/9 |
- |
1 |
10-89720841-A-G |
c.992A>G |
p.Asp331Gly |
Missense |
8/9 |
- |
3 |
10-89720841-A-C |
c.992A>C |
p.Asp331Ala |
Missense |
8/9 |
- |
5 |
10-89720842-ACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTTAAATTAAACATTTTGTGG-A |
c.993_1026+25del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
8/9 |
8/8 |
1 |
10-89720843-AAA-GAC |
c.994_996delinsGAC |
p.Lys332Asp |
Missense |
8/9 |
- |
1 |
10-89720843-AA-GC |
c.994_995delinsGC |
p.Lys332Ala |
Missense |
8/9 |
- |
1 |
10-89720844-A-G |
c.995A>G |
p.Lys332Arg |
Missense |
8/9 |
- |
1 |
10-89720850-A-G |
c.1001A>G |
p.Asn334Ser |
Missense |
8/9 |
- |
1 |
10-89720851-C-G |
c.1002C>G |
p.Asn334Lys |
Missense |
8/9 |
- |
1 |
10-89720851-C-A |
c.1002C>A |
p.Asn334Lys |
Missense |
8/9 |
- |
1 |
10-89720852-C-T |
c.1003C>T |
p.Arg335* |
Nonsense |
8/9 |
- |
46 |
10-89720852-CG-GT |
c.1003_1004delinsGT |
p.Arg335Val |
Missense |
8/9 |
- |
1 |
10-89720852-CG-GC |
c.1003_1004delinsGC |
p.Arg335Ala |
Missense |
8/9 |
- |
2 |
10-89720852-CGA-GAC |
c.1003_1005delinsGAC |
p.Arg335Asp |
Missense |
8/9 |
- |
1 |
10-89720853-G-A |
c.1004G>A |
p.Arg335Gln |
Missense |
8/9 |
- |
3 |
10-89720853-G-T |
c.1004G>T |
p.Arg335Leu |
Missense |
8/9 |
- |
5 |
10-89720856-A-AA |
c.1007dup |
p.Tyr336* |
Nonsense |
8/9 |
- |
1 |
10-89720856-A-T |
c.1007A>T |
p.Tyr336Phe |
Missense |
8/9 |
- |
1 |
10-89720857-C-G |
c.1008C>G |
p.Tyr336* |
Nonsense |
8/9 |
- |
8 |
10-89720857-AC-A |
c.1008del |
p.Ser338Leufs*6 |
Frameshift |
8/9 |
- |
1 |
10-89720859-T-C |
c.1010T>C |
p.Phe337Ser |
Missense |
8/9 |
- |
2 |
10-89720861-TT-T |
c.1012del |
p.Ser338Leufs*6 |
Frameshift |
8/9 |
- |
1 |
10-89720864-C-T |
c.1015C>T |
p.Pro339Ser |
Missense |
8/9 |
- |
2 |
10-89720865-C-A |
c.1016C>A |
p.Pro339Gln |
Missense |
8/9 |
- |
1 |
10-89720865-C-T |
c.1016C>T |
p.Pro339Leu |
Missense |
8/9 |
- |
2 |
10-89720872-T-G |
c.1023T>G |
p.Phe341Leu |
Missense |
8/9 |
- |
2 |
10-89720870-T-G |
c.1021T>G |
p.Phe341Val |
Missense |
8/9 |
- |
5 |
10-89720871-T-A |
c.1022T>A |
p.Phe341Tyr |
Missense |
8/9 |
- |
1 |
10-89720873-A-G |
c.1024A>G |
p.Lys342Glu |
Missense |
8/9 |
- |
2 |
10-89720874-A-G |
c.1025A>G |
p.Lys342Arg |
Missense |
8/9 |
- |
1 |
10-89720874-A-C |
c.1025A>C |
p.Lys342Thr |
Missense |
8/9 |
- |
1 |
10-89720875-G-C |
c.1026G>C |
p.Lys342Asn |
Missense |
8/9 |
- |
5 |
10-89720875-G-T |
c.1026G>T |
p.Lys342Asn |
Missense |
8/9 |
- |
5 |
10-89720876-G-C |
c.1026+1G>C |
- |
IntronicSNV |
- |
8/8 |
1 |
10-89720876-G-A |
c.1026+1G>A |
- |
IntronicSNV |
- |
8/8 |
4 |
10-89720907-T-G |
c.1026+32T>G |
- |
IntronicSNV |
- |
8/8 |
9 |
10-89721094-C-T |
c.1026+219C>T |
- |
IntronicSNV |
- |
8/8 |
3 |
10-89721412-C-T |
c.1026+537C>T |
- |
IntronicSNV |
- |
8/8 |
5 |
10-89723342-C-T |
c.1027-1702C>T |
- |
IntronicSNV |
- |
8/8 |
8 |
10-89725042-A-G |
c.1027-2A>G |
- |
IntronicSNV |
- |
8/8 |
1 |
10-89725042-A-C |
c.1027-2A>C |
- |
IntronicSNV |
- |
8/8 |
2 |
10-89725043-G-A |
c.1027-1G>A |
- |
IntronicSNV |
- |
8/8 |
1 |
10-89725044-G-GG |
c.1027dup |
p.Val343Glyfs*18 |
SpliceAcceptorInsertion |
9/9 |
- |
1 |
10-89725045-T-A |
c.1028T>A |
p.Val343Glu |
Missense |
9/9 |
- |
6 |
10-89725045-T-G |
c.1028T>G |
p.Val343Gly |
Missense |
9/9 |
- |
1 |
10-89725047-A-G |
c.1030A>G |
p.Lys344Glu |
Missense |
9/9 |
- |
1 |
10-89725048-A-G |
c.1031A>G |
p.Lys344Arg |
Missense |
9/9 |
- |
4 |
10-89725050-CTG-TTT |
c.1033_1035delinsTTT |
p.Leu345Phe |
Missense |
9/9 |
- |
1 |
10-89725050-C-G |
c.1033C>G |
p.Leu345Val |
Missense |
9/9 |
- |
7 |
10-89725051-T-A |
c.1034T>A |
p.Leu345Gln |
Missense |
9/9 |
- |
3 |
10-89725051-T-C |
c.1034T>C |
p.Leu345Pro |
Missense |
9/9 |
- |
1 |
10-89725054-A-G |
c.1037A>G |
p.Tyr346Cys |
Missense |
9/9 |
- |
1 |
10-89725056-T-C |
c.1039T>C |
p.Phe347Leu |
Missense |
9/9 |
- |
4 |
10-89725059-ACA-GAC |
c.1042_1044delinsGAC |
p.Thr348Asp |
Missense |
9/9 |
- |
1 |
10-89725059-A-G |
c.1042A>G |
p.Thr348Ala |
Missense |
9/9 |
- |
1 |
10-89725060-C-T |
c.1043C>T |
p.Thr348Ile |
Missense |
9/9 |
- |
3 |
10-89725063-A-G |
c.1046A>G |
p.Lys349Arg |
Missense |
9/9 |
- |
2 |
10-89725069-GTAG-G |
c.1052_1054del |
p.Val351del |
InFrameDeletion |
9/9 |
- |
1 |
10-89725077-CC-TG |
c.1060_1061delinsTG |
p.Pro354Trp |
Missense |
9/9 |
- |
1 |
10-89725078-C-A |
c.1061C>A |
p.Pro354Gln |
Missense |
9/9 |
- |
4 |
10-89725078-C-T |
c.1061C>T |
p.Pro354Leu |
Missense |
9/9 |
- |
1 |
10-89725083-A-G |
c.1066A>G |
p.Asn356Asp |
Missense |
9/9 |
- |
3 |
10-89725099-G-A |
c.1082G>A |
p.Ser361Asn |
Missense |
9/9 |
- |
2 |
10-89725101-T-G |
c.1084T>G |
p.Ser362Ala |
Missense |
9/9 |
- |
1 |
10-89725102-C-T |
c.1085C>T |
p.Ser362Leu |
Missense |
9/9 |
- |
1 |
10-89725105-C-A |
c.1088C>A |
p.Thr363Asn |
Missense |
9/9 |
- |
1 |
10-89725107-T-G |
c.1090T>G |
p.Ser364Ala |
Missense |
9/9 |
- |
1 |
10-89725109-T-C |
c.1092T>C |
p.Ser364Ser |
Synonymous |
9/9 |
- |
1 |
10-89725109-T-A |
c.1092T>A |
p.Ser364Ser |
Synonymous |
9/9 |
- |
1 |
10-89725109-T-G |
c.1092T>G |
p.Ser364Ser |
Synonymous |
9/9 |
- |
1 |
10-89725113-A-T |
c.1096A>T |
p.Thr366Ser |
Missense |
9/9 |
- |
1 |
10-89725113-A-G |
c.1096A>G |
p.Thr366Ala |
Missense |
9/9 |
- |
12 |
10-89725113-AA-A |
c.1096del |
p.Thr366Hisfs*50 |
Frameshift |
9/9 |
- |
1 |
10-89725113-ACA-GAC |
c.1096_1098delinsGAC |
p.Thr366Asp |
Missense |
9/9 |
- |
1 |
10-89725113-ACA-TGG |
c.1096_1098delinsTGG |
p.Thr366Trp |
Missense |
9/9 |
- |
1 |
10-89725121-T-C |
c.1104T>C |
p.Asp368Asp |
Synonymous |
9/9 |
- |
1 |
10-89725125-AG-GA |
c.1108_1109delinsGA |
p.Ser370Asp |
Missense |
9/9 |
- |
2 |
10-89725125-AG-GC |
c.1108_1109delinsGC |
p.Ser370Ala |
Missense |
9/9 |
- |
15 |
10-89725128-G-A |
c.1111G>A |
p.Asp371Asn |
Missense |
9/9 |
- |
1 |
10-89725137-C-A |
c.1120C>A |
p.Pro374Thr |
Missense |
9/9 |
- |
1 |
10-89725143-CA-GC |
c.1126_1127delinsGC |
p.His376Ala |
Missense |
9/9 |
- |
1 |
10-89725149-AG-GC |
c.1132_1133delinsGC |
p.Arg378Ala |
Missense |
9/9 |
- |
1 |
10-89725150-G-T |
c.1133G>T |
p.Arg378Ile |
Missense |
9/9 |
- |
1 |
10-89725150-AGATA-A |
c.1133_1136del |
p.Arg378Ilefs*37 |
Frameshift |
9/9 |
- |
2 |
10-89725152-T-A |
c.1135T>A |
p.Tyr379Asn |
Missense |
9/9 |
- |
1 |
10-89725152-T-G |
c.1135T>G |
p.Tyr379Asp |
Missense |
9/9 |
- |
1 |
10-89725153-A-G |
c.1136A>G |
p.Tyr379Cys |
Missense |
9/9 |
- |
5 |
10-89725155-TCT-GAG |
c.1138_1140delinsGAG |
p.Ser380Glu |
Missense |
9/9 |
- |
6 |
10-89725155-T-C |
c.1138T>C |
p.Ser380Pro |
Missense |
9/9 |
- |
1 |
10-89725155-T-G |
c.1138T>G |
p.Ser380Ala |
Missense |
9/9 |
- |
36 |
10-89725155-TC-GA |
c.1138_1139inv |
p.Ser380Asp |
Missense |
9/9 |
- |
3 |
10-89725156-C-T |
c.1139C>T |
p.Ser380Phe |
Missense |
9/9 |
- |
1 |
10-89725159-A-T |
c.1142A>T |
p.Asp381Val |
Missense |
9/9 |
- |
2 |
10-89725160-C-T |
c.1143C>T |
p.Asp381Asp |
Synonymous |
9/9 |
- |
1 |
10-89725161-AC-GA |
c.1144_1145delinsGA |
p.Thr382Asp |
Missense |
9/9 |
- |
1 |
10-89725161-A-G |
c.1144A>G |
p.Thr382Ala |
Missense |
9/9 |
- |
28 |
10-89725161-ACC-GAG |
c.1144_1146delinsGAG |
p.Thr382Glu |
Missense |
9/9 |
- |
4 |
10-89725162-C-G |
c.1145C>G |
p.Thr382Ser |
Missense |
9/9 |
- |
1 |
10-89725162-C-T |
c.1145C>T |
p.Thr382Ile |
Missense |
9/9 |
- |
1 |
10-89725161-A-T |
c.1144A>T |
p.Thr382Ser |
Missense |
9/9 |
- |
1 |
10-89725164-ACT-GAG |
c.1147_1149delinsGAG |
p.Thr383Glu |
Missense |
9/9 |
- |
6 |
10-89725164-A-G |
c.1147A>G |
p.Thr383Ala |
Missense |
9/9 |
- |
35 |
10-89725164-A-C |
c.1147A>C |
p.Thr383Pro |
Missense |
9/9 |
- |
1 |
10-89725164-AC-GA |
c.1147_1148delinsGA |
p.Thr383Asp |
Missense |
9/9 |
- |
2 |
10-89725165-C-T |
c.1148C>T |
p.Thr383Ile |
Missense |
9/9 |
- |
1 |
10-89725167-G-A |
c.1150G>A |
p.Asp384Asn |
Missense |
9/9 |
- |
1 |
10-89725168-A-T |
c.1151A>T |
p.Asp384Val |
Missense |
9/9 |
- |
1 |
10-89725170-TCT-GAG |
c.1153_1155delinsGAG |
p.Ser385Glu |
Missense |
9/9 |
- |
3 |
10-89725170-TC-GA |
c.1153_1154inv |
p.Ser385Asp |
Missense |
9/9 |
- |
1 |
10-89725170-T-G |
c.1153T>G |
p.Ser385Ala |
Missense |
9/9 |
- |
20 |
10-89725177-C-T |
c.1160C>T |
p.Pro387Leu |
Missense |
9/9 |
- |
1 |
10-89725184-T-G |
c.1167T>G |
p.Asn389Lys |
Missense |
9/9 |
- |
1 |
10-89725188-C-T |
c.1171C>T |
p.Pro391Ser |
Missense |
9/9 |
- |
1 |
10-89725195-A-C |
c.1178A>C |
p.Asp393Ala |
Missense |
9/9 |
- |
2 |
10-89725206-C-T |
c.1189C>T |
p.His397Tyr |
Missense |
9/9 |
- |
1 |
10-89725207-A-G |
c.1190A>G |
p.His397Arg |
Missense |
9/9 |
- |
1 |
10-89725209-AC-GA |
c.1192_1193delinsGA |
p.Thr398Glu |
Missense |
9/9 |
- |
1 |
10-89725209-A-T |
c.1192A>T |
p.Thr398Ser |
Missense |
9/9 |
- |
1 |
10-89725209-ACA-GAC |
c.1192_1194delinsGAC |
p.Thr398Asp |
Missense |
9/9 |
- |
1 |
10-89725209-A-G |
c.1192A>G |
p.Thr398Ala |
Missense |
9/9 |
- |
5 |
10-89725209-AC-CA |
c.1192_1193delinsCA |
p.Thr398Gln |
Missense |
9/9 |
- |
1 |
10-89725210-CA-AC |
c.1193_1194delinsAC |
p.Thr398Asn |
Missense |
9/9 |
- |
1 |
10-89725212-C-T |
c.1195C>T |
p.Gln399* |
Nonsense |
9/9 |
- |
2 |
10-89725219-C-T |
c.1202C>T |
p.Thr401Ile |
Missense |
9/9 |
- |
1 |
10-89725221-A-C |
c.1204A>C |
p.Lys402Gln |
Missense |
9/9 |
- |
1 |
10-89725222-A-G |
c.1205A>G |
p.Lys402Arg |
Missense |
9/9 |
- |
1 |
10-89725227-T-G |
c.1210T>G |
p.*404Glyext*8 |
Missense |
9/9 |
- |
1 |
10-89725228-G-C |
c.1211G>C |
p.*404Serext*8 |
Missense |
9/9 |
- |
1 |
10-89725294-T-C |
c.*65T>C |
- |
3-UTRSNV |
9/9 |
- |
1 |
10-89725304-T-A |
c.*75T>A |
- |
3-UTRSNV |
9/9 |
- |
1 |
10-89725454-T-G |
c.*225T>G |
- |
3-UTRSNV |
9/9 |
- |
1 |
10-89726624-C-A |
c.*1395C>A |
- |
3-UTRSNV |
9/9 |
- |
1 |
10-89726728-C-T |
c.*1499C>T |
- |
3-UTRSNV |
9/9 |
- |
1 |
10-89726745-T-C |
c.*1516T>C |
- |
3-UTRSNV |
9/9 |
- |
21 |
10-89727414-C-T |
c.*2185C>T |
- |
3-UTRSNV |
9/9 |
- |
8 |