2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C |
c.1_59del |
p.Met1_?20 |
Multi:SpliceDonorDeletion,CdsStartDeletion |
1/16 |
- |
2 |
2-47630331-A-G |
c.1A>G |
p.Met1? |
Missense |
1/16 |
- |
3 |
2-47630331-A-C |
c.1A>C |
p.Met1? |
Missense |
1/16 |
- |
6 |
2-47630331-A-T |
c.1A>T |
p.Met1? |
Missense |
1/16 |
- |
4 |
2-47630334-G-A |
c.4G>A |
p.Ala2Thr |
Missense |
1/16 |
- |
4 |
2-47630335-C-T |
c.5C>T |
p.Ala2Val |
Missense |
1/16 |
- |
1 |
2-47630336-G-T |
c.6G>T |
p.Ala2Ala |
Synonymous |
1/16 |
- |
1 |
2-47630344-CG-AT |
c.14_15delinsAT |
p.Pro5His |
Missense |
1/16 |
- |
1 |
2-47630344-C-A |
c.14C>A |
p.Pro5Gln |
Missense |
1/16 |
- |
5 |
2-47630344-CC-C |
c.14del |
p.Pro5Argfs*59 |
Frameshift |
1/16 |
- |
1 |
2-47630344-C-T |
c.14C>T |
p.Pro5Leu |
Missense |
1/16 |
- |
1 |
2-47630353-C-T |
c.23C>T |
p.Thr8Met |
Missense |
1/16 |
- |
8 |
2-47630353-C-G |
c.23C>G |
p.Thr8Arg |
Missense |
1/16 |
- |
1 |
2-47630358-C-T |
c.28C>T |
p.Gln10* |
Nonsense |
1/16 |
- |
1 |
2-47630364-GAG-TTT |
c.34_36delinsTTT |
p.Glu12Phe |
Missense |
1/16 |
- |
1 |
2-47630364-GA-AG |
c.34_35delinsAG |
p.Glu12Arg |
Missense |
1/16 |
- |
2 |
2-47630364-G-GG |
c.34dup |
p.Glu12Glyfs*70 |
Frameshift |
1/16 |
- |
1 |
2-47630367-AG-GC |
c.37_38delinsGC |
p.Ser13Ala |
Missense |
1/16 |
- |
3 |
2-47630367-AG-GA |
c.37_38delinsGA |
p.Ser13Asp |
Missense |
1/16 |
- |
1 |
2-47630367-A-T |
c.37A>T |
p.Ser13Cys |
Missense |
1/16 |
- |
2 |
2-47630373-GC-CG |
c.43_44delinsCG |
p.Ala15Arg |
Missense |
1/16 |
- |
1 |
2-47630379-G-T |
c.49G>T |
p.Val17Phe |
Missense |
1/16 |
- |
1 |
2-47630379-G-A |
c.49G>A |
p.Val17Ile |
Missense |
1/16 |
- |
1 |
2-47630387-C-A |
c.57C>A |
p.Phe19Leu |
Missense |
1/16 |
- |
1 |
2-47630387-C-G |
c.57C>G |
p.Phe19Leu |
Missense |
1/16 |
- |
1 |
2-47630385-T-C |
c.55T>C |
p.Phe19Leu |
Missense |
1/16 |
- |
1 |
2-47630397-T-C |
c.67T>C |
p.Phe23Leu |
Missense |
1/16 |
- |
1 |
2-47630399-T-G |
c.69T>G |
p.Phe23Leu |
Missense |
1/16 |
- |
1 |
2-47630399-T-A |
c.69T>A |
p.Phe23Leu |
Missense |
1/16 |
- |
1 |
2-47630401-CA-C |
c.71del |
p.Gln24Argfs*40 |
Frameshift |
1/16 |
- |
2 |
2-47630406-A-C |
c.76A>C |
p.Met26Leu |
Missense |
1/16 |
- |
1 |
2-47630406-A-T |
c.76A>T |
p.Met26Leu |
Missense |
1/16 |
- |
1 |
2-47630410-C-T |
c.80C>T |
p.Pro27Leu |
Missense |
1/16 |
- |
1 |
2-47630412-GG-G |
c.82del |
p.Glu28Argfs*36 |
Frameshift |
1/16 |
- |
1 |
2-47630423-C-T |
c.93C>T |
p.Thr31Thr |
Synonymous |
1/16 |
- |
1 |
2-47630424-A-T |
c.94A>T |
p.Thr32Ser |
Missense |
1/16 |
- |
1 |
2-47630425-C-G |
c.95C>G |
p.Thr32Ser |
Missense |
1/16 |
- |
1 |
2-47630426-C-CC |
c.96dup |
p.Thr33Hisfs*49 |
Frameshift |
1/16 |
- |
1 |
2-47630427-A-C |
c.97A>C |
p.Thr33Pro |
Missense |
1/16 |
- |
5 |
2-47630431-T-A |
c.101T>A |
p.Val34Glu |
Missense |
1/16 |
- |
2 |
2-47630440-TT-T |
c.110del |
p.Phe37Serfs*27 |
Frameshift |
1/16 |
- |
1 |
2-47630442-G-T |
c.112G>T |
p.Asp38Tyr |
Missense |
1/16 |
- |
1 |
2-47630445-CGG-AGC |
c.115_117delinsAGC |
p.Arg39Ser |
Missense |
1/16 |
- |
1 |
2-47630445-CG-GA |
c.115_116delinsGA |
p.Arg39Glu |
Missense |
1/16 |
- |
1 |
2-47630448-G-A |
c.118G>A |
p.Gly40Ser |
Missense |
1/16 |
- |
2 |
2-47630449-G-C |
c.119G>C |
p.Gly40Ala |
Missense |
1/16 |
- |
1 |
2-47630449-GG-G |
c.119del |
p.Gly40Alafs*24 |
Frameshift |
1/16 |
- |
1 |
2-47630458-A-G |
c.128A>G |
p.Tyr43Cys |
Missense |
1/16 |
- |
3 |
2-47630461-C-T |
c.131C>T |
p.Thr44Met |
Missense |
1/16 |
- |
4 |
2-47630463-G-GG |
c.133dup |
p.Ala45Glyfs*37 |
Frameshift |
1/16 |
- |
1 |
2-47630464-C-T |
c.134C>T |
p.Ala45Val |
Missense |
1/16 |
- |
1 |
2-47630466-GCACGGCGAGGACGCGCTGCTGGCCGCCCG-G |
c.136_164del |
p.His46Glyfs*26 |
Frameshift |
1/16 |
- |
2 |
2-47630468-C-G |
c.138C>G |
p.His46Gln |
Missense |
1/16 |
- |
5 |
2-47630472-G-T |
c.142G>T |
p.Glu48* |
Nonsense |
1/16 |
- |
3 |
2-47630475-GGACG-G |
c.145_148del |
p.Asp49Argfs*14 |
Frameshift |
1/16 |
- |
1 |
2-47630476-A-T |
c.146A>T |
p.Asp49Val |
Missense |
1/16 |
- |
2 |
2-47630483-G-GTAAA |
c.153_154insTAAA |
p.Leu52* |
Nonsense |
1/16 |
- |
1 |
2-47630485-CTGGC-C |
c.155_158del |
p.Leu52Profs*11 |
Frameshift |
1/16 |
- |
1 |
2-47630490-GC-TA |
c.160_161delinsTA |
p.Ala54Tyr |
Missense |
1/16 |
- |
1 |
2-47630493-CGG-GAC |
c.163_165delinsGAC |
p.Arg55Asp |
Missense |
1/16 |
- |
1 |
2-47630493-C-G |
c.163C>G |
p.Arg55Gly |
Missense |
1/16 |
- |
2 |
2-47630493-CC-C |
c.163del |
p.Arg55Glyfs*9 |
Frameshift |
1/16 |
- |
2 |
2-47630496-G-T |
c.166G>T |
p.Glu56* |
Nonsense |
1/16 |
- |
5 |
2-47630496-G-A |
c.166G>A |
p.Glu56Lys |
Missense |
1/16 |
- |
1 |
2-47630502-T-A |
c.172T>A |
p.Phe58Ile |
Missense |
1/16 |
- |
1 |
2-47630504-C-CC |
c.174dup |
p.Lys59Glnfs*23 |
Frameshift |
1/16 |
- |
3 |
2-47630506-A-AA |
c.176dup |
p.Thr60Aspfs*22 |
Frameshift |
1/16 |
- |
1 |
2-47630506-AA-A |
c.176del |
p.Lys59Argfs*5 |
Frameshift |
1/16 |
- |
1 |
2-47630511-C-T |
c.181C>T |
p.Gln61* |
Nonsense |
1/16 |
- |
6 |
2-47630511-C-A |
c.181C>A |
p.Gln61Lys |
Missense |
1/16 |
- |
1 |
2-47630512-A-C |
c.182A>C |
p.Gln61Pro |
Missense |
1/16 |
- |
3 |
2-47630516-G-GTA |
c.186_187insTA |
p.Val63* |
Nonsense |
1/16 |
- |
2 |
2-47630517-GG-G |
c.187del |
p.Val63* |
Frameshift |
1/16 |
- |
6 |
2-47630517-GTG-TTT |
c.187_189delinsTTT |
p.Val63Phe |
Missense |
1/16 |
- |
1 |
2-47630518-T-A |
c.188T>A |
p.Val63Glu |
Missense |
1/16 |
- |
1 |
2-47630520-A-G |
c.190A>G |
p.Ile64Val |
Missense |
1/16 |
- |
1 |
2-47630522-C-CC |
c.192dup |
p.Lys65Glnfs*17 |
Frameshift |
1/16 |
- |
1 |
2-47630523-A-T |
c.193A>T |
p.Lys65* |
Nonsense |
1/16 |
- |
1 |
2-47630526-TA-GC |
c.196_197delinsGC |
p.Tyr66Ala |
Missense |
1/16 |
- |
1 |
2-47630529-A-G |
c.199A>G |
p.Met67Val |
Missense |
1/16 |
- |
1 |
2-47630539-GCAGGTGAGGGCCGG-G |
c.209_211+11del |
- |
SpliceDonorDeletion |
1/16 |
1/15 |
1 |
2-47630541-G-A |
c.211G>A |
p.Gly71Arg |
Missense |
1/16 |
- |
1 |
2-47630541-G-C |
c.211G>C |
p.Gly71Arg |
Missense |
1/16 |
- |
1 |
2-47630542-G-C |
c.211+1G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47630550-C-G |
c.211+9C>G |
- |
IntronicSNV |
- |
1/15 |
11 |
2-47630550-C-A |
c.211+9C>A |
- |
IntronicSNV |
- |
1/15 |
6 |
2-47630550-C-T |
c.211+9C>T |
- |
IntronicSNV |
- |
1/15 |
5 |
2-47630639-T-C |
c.211+98T>C |
- |
IntronicSNV |
- |
1/15 |
2 |
2-47631091-G-C |
c.211+550G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635062-T-G |
c.212-478T>G |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635517-A-C |
c.212-23A>C |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635538-A-G |
c.212-2A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
2-47635539-G-A |
c.212-1G>A |
- |
IntronicSNV |
- |
1/15 |
3 |
2-47635542-G-A |
c.214G>A |
p.Ala72Thr |
Missense |
2/16 |
- |
1 |
2-47635543-C-T |
c.215C>T |
p.Ala72Val |
Missense |
2/16 |
- |
1 |
2-47635545-A-C |
c.217A>C |
p.Lys73Gln |
Missense |
2/16 |
- |
1 |
2-47635546-A-G |
c.218A>G |
p.Lys73Arg |
Missense |
2/16 |
- |
1 |
2-47635551-CT-AA |
c.223_224delinsAA |
p.Leu75Lys |
Missense |
2/16 |
- |
1 |
2-47635554-C-T |
c.226C>T |
p.Gln76* |
Nonsense |
2/16 |
- |
4 |
2-47635556-G-T |
c.228G>T |
p.Gln76His |
Missense |
2/16 |
- |
1 |
2-47635556-G-C |
c.228G>C |
p.Gln76His |
Missense |
2/16 |
- |
1 |
2-47635557-GAG-G |
c.229_230del |
p.Ser77Cysfs*4 |
Frameshift |
2/16 |
- |
5 |
2-47635560-G-A |
c.232G>A |
p.Val78Ile |
Missense |
2/16 |
- |
3 |
2-47635572-A-T |
c.244A>T |
p.Lys82* |
Nonsense |
2/16 |
- |
1 |
2-47635583-T-TT |
c.255dup |
p.Glu86* |
Nonsense |
2/16 |
- |
1 |
2-47635584-G-T |
c.256G>T |
p.Glu86* |
Nonsense |
2/16 |
- |
1 |
2-47635588-C-G |
c.260C>G |
p.Ser87Cys |
Missense |
2/16 |
- |
1 |
2-47635593-G-T |
c.265G>T |
p.Val89Leu |
Missense |
2/16 |
- |
2 |
2-47635594-T-C |
c.266T>C |
p.Val89Ala |
Missense |
2/16 |
- |
1 |
2-47635599-AG-A |
c.271del |
p.Asp91Ilefs*83 |
Frameshift |
2/16 |
- |
1 |
2-47635601-T-G |
c.273T>G |
p.Asp91Glu |
Missense |
2/16 |
- |
1 |
2-47635601-T-A |
c.273T>A |
p.Asp91Glu |
Missense |
2/16 |
- |
1 |
2-47635602-C-G |
c.274C>G |
p.Leu92Val |
Missense |
2/16 |
- |
2 |
2-47635605-C-T |
c.277C>T |
p.Leu93Phe |
Missense |
2/16 |
- |
1 |
2-47635606-CTT-C |
c.278_279del |
p.Leu93Profs*6 |
Frameshift |
2/16 |
- |
1 |
2-47635606-T-C |
c.278T>C |
p.Leu93Pro |
Missense |
2/16 |
- |
1 |
2-47635607-TTCT-T |
c.279_281del |
p.Leu94del |
InFrameDeletion |
2/16 |
- |
3 |
2-47635615-G-A |
c.287G>A |
p.Arg96His |
Missense |
2/16 |
- |
4 |
2-47635617-C-T |
c.289C>T |
p.Gln97* |
Nonsense |
2/16 |
- |
3 |
2-47635621-A-G |
c.293A>G |
p.Tyr98Cys |
Missense |
2/16 |
- |
3 |
2-47635626-G-A |
c.298G>A |
p.Val100Ile |
Missense |
2/16 |
- |
2 |
2-47635632-G-A |
c.304G>A |
p.Val102Ile |
Missense |
2/16 |
- |
1 |
2-47635636-A-G |
c.308A>G |
p.Tyr103Cys |
Missense |
2/16 |
- |
3 |
2-47635645-G-A |
c.317G>A |
p.Arg106Lys |
Missense |
2/16 |
- |
2 |
2-47635649-CT-C |
c.321del |
p.Gly108Glufs*66 |
Frameshift |
2/16 |
- |
1 |
2-47635656-A-C |
c.328A>C |
p.Lys110Gln |
Missense |
2/16 |
- |
1 |
2-47635657-A-G |
c.329A>G |
p.Lys110Arg |
Missense |
2/16 |
- |
1 |
2-47635657-A-C |
c.329A>C |
p.Lys110Thr |
Missense |
2/16 |
- |
1 |
2-47635660-C-T |
c.332C>T |
p.Ala111Val |
Missense |
2/16 |
- |
1 |
2-47635667-G-A |
c.339G>A |
p.Lys113Lys |
Synonymous |
2/16 |
- |
1 |
2-47635668-GG-G |
c.340del |
p.Glu114Argfs*60 |
Frameshift |
2/16 |
- |
1 |
2-47635672-AA-A |
c.344del |
p.Asn115Metfs*59 |
Frameshift |
2/16 |
- |
1 |
2-47635691-T-G |
c.363T>G |
p.Tyr121* |
Nonsense |
2/16 |
- |
2 |
2-47635695-G-A |
c.366+1G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
2-47637239-C-T |
c.373C>T |
p.Pro125Ser |
Missense |
3/16 |
- |
1 |
2-47637240-C-T |
c.374C>T |
p.Pro125Leu |
Missense |
3/16 |
- |
1 |
2-47637242-G-A |
c.376G>A |
p.Gly126Ser |
Missense |
3/16 |
- |
1 |
2-47637243-GG-G |
c.377del |
p.Gly126Alafs*48 |
Frameshift |
3/16 |
- |
1 |
2-47637246-A-G |
c.380A>G |
p.Asn127Ser |
Missense |
3/16 |
- |
20 |
2-47637246-A-T |
c.380A>T |
p.Asn127Ile |
Missense |
3/16 |
- |
1 |
2-47637247-T-C |
c.381T>C |
p.Asn127Asn |
Synonymous |
3/16 |
- |
1 |
2-47637248-TC-T |
c.382del |
p.Leu128Serfs*46 |
Frameshift |
3/16 |
- |
1 |
2-47637248-C-G |
c.382C>G |
p.Leu128Val |
Missense |
3/16 |
- |
1 |
2-47637254-C-T |
c.388C>T |
p.Gln130* |
Nonsense |
3/16 |
- |
1 |
2-47637254-TCA-T |
c.388_389del |
p.Gln130Valfs*2 |
Frameshift |
3/16 |
- |
9 |
2-47637254-CA-GT |
c.388_389delinsGT |
p.Gln130Val |
Missense |
3/16 |
- |
1 |
2-47637260-G-T |
c.394G>T |
p.Glu132* |
Nonsense |
3/16 |
- |
1 |
2-47637269-CT-TA |
c.403_404delinsTA |
p.Leu135Tyr |
Missense |
3/16 |
- |
1 |
2-47637274-TT-T |
c.408del |
p.Phe136Leufs*38 |
Frameshift |
3/16 |
- |
1 |
2-47637282-AA-A |
c.416del |
p.Asn139Metfs*35 |
Frameshift |
3/16 |
- |
1 |
2-47637285-A-G |
c.419A>G |
p.Asp140Gly |
Missense |
3/16 |
- |
1 |
2-47637286-T-TT |
c.420dup |
p.Met141Tyrfs*11 |
Frameshift |
3/16 |
- |
1 |
2-47637287-A-G |
c.421A>G |
p.Met141Val |
Missense |
3/16 |
- |
1 |
2-47637291-C-G |
c.425C>G |
p.Ser142* |
Nonsense |
3/16 |
- |
2 |
2-47637296-TC-AT |
c.430_431delinsAT |
p.Ser144Ile |
Missense |
3/16 |
- |
1 |
2-47637301-T-G |
c.435T>G |
p.Ile145Met |
Missense |
3/16 |
- |
12 |
2-47637306-T-G |
c.440T>G |
p.Val147Gly |
Missense |
3/16 |
- |
1 |
2-47637309-T-A |
c.443T>A |
p.Val148Glu |
Missense |
3/16 |
- |
1 |
2-47637311-GG-AC |
c.445_446delinsAC |
p.Gly149Thr |
Missense |
3/16 |
- |
1 |
2-47637320-AA-A |
c.454del |
p.Met152Cysfs*22 |
Frameshift |
3/16 |
- |
1 |
2-47637324-C-G |
c.458C>G |
p.Ser153Cys |
Missense |
3/16 |
- |
2 |
2-47637337-C-T |
c.471C>T |
p.Gly157Gly |
Synonymous |
3/16 |
- |
2 |
2-47637337-C-A |
c.471C>A |
p.Gly157Gly |
Synonymous |
3/16 |
- |
3 |
2-47637341-A-AA |
c.475dup |
p.Arg159Lysfs*19 |
Frameshift |
3/16 |
- |
1 |
2-47637348-T-A |
c.482T>A |
p.Val161Asp |
Missense |
3/16 |
- |
4 |
2-47637350-G-A |
c.484G>A |
p.Gly162Arg |
Missense |
3/16 |
- |
7 |
2-47637351-G-C |
c.485G>C |
p.Gly162Ala |
Missense |
3/16 |
- |
2 |
2-47637354-T-A |
c.488T>A |
p.Val163Asp |
Missense |
3/16 |
- |
4 |
2-47637354-T-G |
c.488T>G |
p.Val163Gly |
Missense |
3/16 |
- |
2 |
2-47637356-G-A |
c.490G>A |
p.Gly164Arg |
Missense |
3/16 |
- |
4 |
2-47637356-TGGGTATGTGGATTCCATAC-T |
c.490_508del |
p.Gly164Argfs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637357-G-A |
c.491G>A |
p.Gly164Glu |
Missense |
3/16 |
- |
2 |
2-47637359-T-G |
c.493T>G |
p.Tyr165Asp |
Missense |
3/16 |
- |
1 |
2-47637365-G-C |
c.499G>C |
p.Asp167His |
Missense |
3/16 |
- |
8 |
2-47637371-A-G |
c.505A>G |
p.Ile169Val |
Missense |
3/16 |
- |
6 |
2-47637374-C-T |
c.508C>T |
p.Gln170* |
Nonsense |
3/16 |
- |
3 |
2-47637377-A-G |
c.511A>G |
p.Arg171Gly |
Missense |
3/16 |
- |
1 |
2-47637378-G-A |
c.512G>A |
p.Arg171Lys |
Missense |
3/16 |
- |
1 |
2-47637379-GG-G |
c.513del |
p.Lys172Asnfs*2 |
Frameshift |
3/16 |
- |
1 |
2-47637384-T-C |
c.518T>C |
p.Leu173Pro |
Missense |
3/16 |
- |
3 |
2-47637384-T-G |
c.518T>G |
p.Leu173Arg |
Missense |
3/16 |
- |
6 |
2-47637390-T-C |
c.524T>C |
p.Leu175Pro |
Missense |
3/16 |
- |
1 |
2-47637394-GTG-G |
c.528_529del |
p.Cys176* |
Frameshift |
3/16 |
- |
2 |
2-47637395-G-A |
c.529G>A |
p.Glu177Lys |
Missense |
3/16 |
- |
2 |
2-47637396-GAA-G |
c.530_531del |
p.Glu177Valfs*3 |
Frameshift |
3/16 |
- |
3 |
2-47637411-GATCAGTTC-G |
c.545_552del |
p.Asp182Valfs*4 |
Frameshift |
3/16 |
- |
1 |
2-47637413-C-T |
c.547C>T |
p.Gln183* |
Nonsense |
3/16 |
- |
1 |
2-47637423-A-G |
c.557A>G |
p.Asn186Ser |
Missense |
3/16 |
- |
3 |
2-47637426-T-C |
c.560T>C |
p.Leu187Pro |
Missense |
3/16 |
- |
4 |
2-47637426-T-G |
c.560T>G |
p.Leu187Arg |
Missense |
3/16 |
- |
2 |
2-47637428-G-C |
c.562G>C |
p.Glu188Gln |
Missense |
3/16 |
- |
1 |
2-47637434-CT-AC |
c.568_569delinsAC |
p.Leu190Thr |
Missense |
3/16 |
- |
1 |
2-47637437-CCTC-C |
c.571_573del |
p.Leu191del |
InFrameDeletion |
3/16 |
- |
4 |
2-47637439-C-T |
c.573C>T |
p.Leu191Leu |
Synonymous |
3/16 |
- |
1 |
2-47637447-T-C |
c.581T>C |
p.Ile194Thr |
Missense |
3/16 |
- |
1 |
2-47637458-G-GG |
c.592dup |
p.Glu198Glyfs*34 |
Frameshift |
3/16 |
- |
1 |
2-47637459-A-G |
c.593A>G |
p.Glu198Gly |
Missense |
3/16 |
- |
3 |
2-47637460-A-G |
c.594A>G |
p.Glu198Glu |
Synonymous |
3/16 |
- |
1 |
2-47637461-TG-CA |
c.595_596inv |
p.Cys199His |
Missense |
3/16 |
- |
1 |
2-47637461-T-C |
c.595T>C |
p.Cys199Arg |
Missense |
3/16 |
- |
5 |
2-47637462-TG-T |
c.596del |
p.Cys199Leufs*15 |
Frameshift |
3/16 |
- |
2 |
2-47637465-T-A |
c.599T>A |
p.Val200Asp |
Missense |
3/16 |
- |
1 |
2-47637473-G-C |
c.607G>C |
p.Gly203Arg |
Missense |
3/16 |
- |
1 |
2-47637473-G-A |
c.607G>A |
p.Gly203Arg |
Missense |
3/16 |
- |
1 |
2-47637476-G-T |
c.610G>T |
p.Gly204* |
Nonsense |
3/16 |
- |
3 |
2-47637477-G-C |
c.611G>C |
p.Gly204Ala |
Missense |
3/16 |
- |
1 |
2-47637479-G-C |
c.613G>C |
p.Glu205Gln |
Missense |
3/16 |
- |
3 |
2-47637479-G-T |
c.613G>T |
p.Glu205* |
Nonsense |
3/16 |
- |
2 |
2-47637485-G-T |
c.619G>T |
p.Ala207Ser |
Missense |
3/16 |
- |
1 |
2-47637499-G-GG |
c.633dup |
p.Lys212Glufs*20 |
Frameshift |
3/16 |
- |
1 |
2-47637503-C-G |
c.637C>G |
p.Leu213Val |
Missense |
3/16 |
- |
1 |
2-47637504-CTG-C |
c.638_639del |
p.Leu213Glnfs*18 |
Frameshift |
3/16 |
- |
1 |
2-47637504-T-TT |
c.638dup |
p.Arg214Glufs*18 |
Frameshift |
3/16 |
- |
2 |
2-47637506-AGA-TGT |
c.640_642delinsTGT |
p.Arg214Cys |
Missense |
3/16 |
- |
1 |
2-47637507-G-T |
c.641G>T |
p.Arg214Ile |
Missense |
3/16 |
- |
1 |
2-47637508-GACAG-G |
c.642_645del |
p.Gln215* |
SpliceDonorDeletion |
3/16 |
- |
2 |
2-47637509-C-T |
c.643C>T |
p.Gln215* |
Nonsense |
3/16 |
- |
1 |
2-47637512-G-A |
c.645+1G>A |
- |
IntronicSNV |
- |
3/15 |
2 |
2-47639507-TC-T |
c.646-46del |
- |
IntronicDeletion |
- |
3/15 |
1 |
2-47639551-A-G |
c.646-2A>G |
- |
IntronicSNV |
- |
3/15 |
1 |
2-47639554-T-TT |
c.647dup |
p.Ile217Asnfs*15 |
SpliceAcceptorInsertion |
4/16 |
- |
1 |
2-47639556-A-AA |
c.649dup |
p.Ile217Asnfs*15 |
Frameshift |
4/16 |
- |
1 |
2-47639556-AATT-A |
c.649_651del |
p.Ile217del |
InFrameDeletion |
4/16 |
- |
1 |
2-47639558-T-TT |
c.651dup |
p.Gln218Serfs*14 |
Frameshift |
4/16 |
- |
1 |
2-47639562-A-T |
c.655A>T |
p.Arg219* |
Nonsense |
4/16 |
- |
1 |
2-47639562-A-G |
c.655A>G |
p.Arg219Gly |
Missense |
4/16 |
- |
1 |
2-47639573-TT-T |
c.666del |
p.Leu223* |
Frameshift |
4/16 |
- |
1 |
2-47639580-ACA-TGT |
c.673_675inv |
p.Thr225Cys |
Missense |
4/16 |
- |
1 |
2-47639583-G-T |
c.676G>T |
p.Glu226* |
Nonsense |
4/16 |
- |
1 |
2-47639587-AGA-A |
c.680_681del |
p.Arg227Lysfs*4 |
Frameshift |
4/16 |
- |
1 |
2-47639587-AGAAA-A |
c.680_683del |
p.Arg227Lysfs*18 |
Frameshift |
4/16 |
- |
2 |
2-47639589-A-G |
c.682A>G |
p.Lys228Glu |
Missense |
4/16 |
- |
2 |
2-47639594-AA-A |
c.687del |
p.Ala230Leufs*16 |
Frameshift |
4/16 |
- |
2 |
2-47639598-TG-T |
c.691del |
p.Asp231Thrfs*15 |
Frameshift |
4/16 |
- |
1 |
2-47639618-TTTATCAGGACCTCAACC-T |
c.711_727del |
p.Ile237Metfs*13 |
Frameshift |
4/16 |
- |
1 |
2-47639620-A-T |
c.713A>T |
p.Tyr238Phe |
Missense |
4/16 |
- |
1 |
2-47639622-C-T |
c.715C>T |
p.Gln239* |
Nonsense |
4/16 |
- |
1 |
2-47639625-GA-AG |
c.718_719delinsAG |
p.Asp240Ser |
Missense |
4/16 |
- |
1 |
2-47639625-GG-G |
c.718del |
p.Asp240Thrfs*6 |
Frameshift |
4/16 |
- |
1 |
2-47639628-CT-AG |
c.721_722inv |
p.Leu241Ser |
Missense |
4/16 |
- |
1 |
2-47639635-G-A |
c.728G>A |
p.Arg243Gln |
Missense |
4/16 |
- |
2 |
2-47639638-T-TT |
c.731dup |
p.Leu244Phefs*12 |
Frameshift |
4/16 |
- |
1 |
2-47639643-A-C |
c.736A>C |
p.Lys246Gln |
Missense |
4/16 |
- |
1 |
2-47639649-A-G |
c.742A>G |
p.Lys248Glu |
Missense |
4/16 |
- |
1 |
2-47639649-A-C |
c.742A>C |
p.Lys248Gln |
Missense |
4/16 |
- |
1 |
2-47639664-ATG-TAT |
c.757_759delinsTAT |
p.Met253Tyr |
Missense |
4/16 |
- |
1 |
2-47639665-ATGAATA-A |
c.758_763del |
p.Met253_Asn254del |
InFrameDeletion |
4/16 |
- |
1 |
2-47639666-TGAAT-T |
c.759_762del |
p.Met253Ilefs*20 |
Frameshift |
4/16 |
- |
1 |
2-47639668-AA-A |
c.761del |
p.Asn254Ilefs*20 |
Frameshift |
4/16 |
- |
1 |
2-47639680-T-A |
c.773T>A |
p.Leu258* |
Nonsense |
4/16 |
- |
1 |
2-47639682-C-T |
c.775C>T |
p.Pro259Ser |
Missense |
4/16 |
- |
1 |
2-47639688-A-G |
c.781A>G |
p.Met261Val |
Missense |
4/16 |
- |
1 |
2-47639693-G-GT |
c.786_787insT |
p.Asn263* |
Nonsense |
4/16 |
- |
1 |
2-47639697-C-G |
c.790C>G |
p.Gln264Glu |
Missense |
4/16 |
- |
1 |
2-47639697-C-T |
c.790C>T |
p.Gln264* |
Nonsense |
4/16 |
- |
1 |
2-47639699-G-C |
c.792G>C |
p.Gln264His |
Missense |
4/16 |
- |
1 |
2-47639700-G-T |
c.792+1G>T |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47639700-G-A |
c.792+1G>A |
- |
IntronicSNV |
- |
4/15 |
3 |
2-47641406-A-C |
c.793-2A>C |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47641406-A-T |
c.793-2A>T |
- |
IntronicSNV |
- |
4/15 |
1 |
2-47641410-TTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCA-T |
c.795_853del |
p.Ala266Leufs*5 |
InFrameDeletion |
5/16 |
- |
8 |
2-47641411-GCA-TGG |
c.796_798delinsTGG |
p.Ala266Trp |
Missense |
5/16 |
- |
1 |
2-47641418-C-T |
c.803C>T |
p.Ser268Leu |
Missense |
5/16 |
- |
1 |
2-47641425-TGT-T |
c.810_811del |
p.Ser271Cysfs*12 |
Frameshift |
5/16 |
- |
1 |
2-47641429-G-T |
c.814G>T |
p.Ala272Ser |
Missense |
5/16 |
- |
1 |
2-47641430-C-T |
c.815C>T |
p.Ala272Val |
Missense |
5/16 |
- |
11 |
2-47641432-G-A |
c.817G>A |
p.Val273Ile |
Missense |
5/16 |
- |
1 |
2-47641445-T-G |
c.830T>G |
p.Leu277* |
Nonsense |
5/16 |
- |
1 |
2-47641445-TT-T |
c.830del |
p.Leu277* |
Frameshift |
5/16 |
- |
1 |
2-47641447-AG-A |
c.832del |
p.Glu278Asnfs*14 |
Frameshift |
5/16 |
- |
1 |
2-47641450-C-G |
c.835C>G |
p.Leu279Val |
Missense |
5/16 |
- |
2 |
2-47641451-CT-C |
c.836del |
p.Leu279Profs*13 |
Frameshift |
5/16 |
- |
1 |
2-47641455-A-C |
c.840A>C |
p.Leu280Phe |
Missense |
5/16 |
- |
2 |
2-47641455-A-T |
c.840A>T |
p.Leu280Phe |
Missense |
5/16 |
- |
2 |
2-47641455-TAT-T |
c.840_841del |
p.Leu280Phefs*3 |
Frameshift |
5/16 |
- |
1 |
2-47641457-C-G |
c.842C>G |
p.Ser281* |
Nonsense |
5/16 |
- |
2 |
2-47641462-GAT-AAG |
c.847_849delinsAAG |
p.Asp283Lys |
Missense |
5/16 |
- |
1 |
2-47641469-AA-A |
c.854del |
p.Asn285Thrfs*7 |
Frameshift |
5/16 |
- |
1 |
2-47641475-G-GG |
c.860dup |
p.Gln288Thrfs*3 |
Frameshift |
5/16 |
- |
1 |
2-47641477-C-T |
c.862C>T |
p.Gln288* |
Nonsense |
5/16 |
- |
4 |
2-47641478-CA-C |
c.863del |
p.Gln288Argfs*4 |
Frameshift |
5/16 |
- |
1 |
2-47641481-T-G |
c.866T>G |
p.Phe289Cys |
Missense |
5/16 |
- |
1 |
2-47641483-G-T |
c.868G>T |
p.Glu290* |
Nonsense |
5/16 |
- |
1 |
2-47641488-TGACT-T |
c.873_876del |
p.Thr292Leufs*8 |
Frameshift |
5/16 |
- |
1 |
2-47641489-A-T |
c.874A>T |
p.Thr292Ser |
Missense |
5/16 |
- |
1 |
2-47641491-T-TC |
c.876_877insC |
p.Thr293Hisfs*3 |
Frameshift |
5/16 |
- |
2 |
2-47641496-TTT-T |
c.881_882del |
p.Phe294* |
Frameshift |
5/16 |
- |
1 |
2-47641499-A-G |
c.884A>G |
p.Asp295Gly |
Missense |
5/16 |
- |
1 |
2-47641507-C-T |
c.892C>T |
p.Gln298* |
Nonsense |
5/16 |
- |
6 |
2-47641510-T-C |
c.895T>C |
p.Tyr299His |
Missense |
5/16 |
- |
1 |
2-47641512-T-G |
c.897T>G |
p.Tyr299* |
Nonsense |
5/16 |
- |
3 |
2-47641512-T-A |
c.897T>A |
p.Tyr299* |
Nonsense |
5/16 |
- |
3 |
2-47641520-T-A |
c.905T>A |
p.Leu302* |
Nonsense |
5/16 |
- |
3 |
2-47641520-T-C |
c.905T>C |
p.Leu302Ser |
Missense |
5/16 |
- |
1 |
2-47641528-G-A |
c.913G>A |
p.Ala305Thr |
Missense |
5/16 |
- |
2 |
2-47641529-GCAGCAGTCAG-G |
c.914_923del |
p.Ala305Glufs*23 |
Frameshift |
5/16 |
- |
1 |
2-47641544-T-C |
c.929T>C |
p.Leu310Pro |
Missense |
5/16 |
- |
1 |
2-47641544-T-G |
c.929T>G |
p.Leu310Arg |
Missense |
5/16 |
- |
1 |
2-47641555-TCAG-T |
c.940_942del |
p.Gln314del |
InFrameDeletion |
5/16 |
- |
1 |
2-47641555-C-T |
c.940C>T |
p.Gln314* |
Nonsense |
5/16 |
- |
1 |
2-47641558-GGTAA-G |
c.942+1_942+4del |
- |
SpliceDonorDeletion |
- |
5/15 |
1 |
2-47641559-GT-G |
c.942+2del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-GTAAAAAA-G |
c.942+2_942+8del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-GTAAAAA-G |
c.942+2_942+7del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641559-T-G |
c.942+2T>G |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47641559-T-C |
c.942+2T>C |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641560-A-G |
c.942+3A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47641560-A-T |
c.942+3A>T |
- |
IntronicSNV |
- |
5/15 |
38 |
2-47641565-A-T |
c.942+8A>T |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47641581-AAAAAAA-A |
c.942+24_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641582-AAAAAA-A |
c.942+25_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641583-AAAAA-A |
c.942+26_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47641584-AAAA-A |
c.942+27_942+29del |
- |
IntronicDeletion |
- |
5/15 |
1 |
2-47643425-T-A |
c.943-10T>A |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47643434-G-C |
c.943-1G>C |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47643434-G-A |
c.943-1G>A |
- |
IntronicSNV |
- |
5/15 |
2 |
2-47643434-G-T |
c.943-1G>T |
- |
IntronicSNV |
- |
5/15 |
1 |
2-47643436-G-T |
c.944G>T |
p.Gly315Val |
Missense |
6/16 |
- |
5 |
2-47643436-G-A |
c.944G>A |
p.Gly315Asp |
Missense |
6/16 |
- |
3 |
2-47643438-TC-AT |
c.946_947delinsAT |
p.Ser316Ile |
Missense |
6/16 |
- |
1 |
2-47643441-G-C |
c.949G>C |
p.Val317Leu |
Missense |
6/16 |
- |
2 |
2-47643444-G-A |
c.952G>A |
p.Glu318Lys |
Missense |
6/16 |
- |
1 |
2-47643450-AC-GG |
c.958_959delinsGG |
p.Thr320Gly |
Missense |
6/16 |
- |
1 |
2-47643457-G-T |
c.965G>T |
p.Gly322Val |
Missense |
6/16 |
- |
7 |
2-47643457-G-A |
c.965G>A |
p.Gly322Asp |
Missense |
6/16 |
- |
48 |
2-47643458-C-G |
c.966C>G |
p.Gly322Gly |
Synonymous |
6/16 |
- |
1 |
2-47643458-C-A |
c.966C>A |
p.Gly322Gly |
Synonymous |
6/16 |
- |
1 |
2-47643458-C-T |
c.966C>T |
p.Gly322Gly |
Synonymous |
6/16 |
- |
1 |
2-47643460-C-T |
c.968C>T |
p.Ser323Phe |
Missense |
6/16 |
- |
1 |
2-47643460-C-A |
c.968C>A |
p.Ser323Tyr |
Missense |
6/16 |
- |
2 |
2-47643461-CTC-C |
c.969_970del |
p.Gln324Valfs*8 |
Frameshift |
6/16 |
- |
2 |
2-47643462-C-T |
c.970C>T |
p.Gln324* |
Nonsense |
6/16 |
- |
1 |
2-47643462-C-G |
c.970C>G |
p.Gln324Glu |
Missense |
6/16 |
- |
1 |
2-47643464-G-A |
c.972G>A |
p.Gln324Gln |
Synonymous |
6/16 |
- |
1 |
2-47643474-G-C |
c.982G>C |
p.Ala328Pro |
Missense |
6/16 |
- |
2 |
2-47643476-C-G |
c.984C>G |
p.Ala328Ala |
Synonymous |
6/16 |
- |
1 |
2-47643476-C-T |
c.984C>T |
p.Ala328Ala |
Synonymous |
6/16 |
- |
2 |
2-47643476-C-A |
c.984C>A |
p.Ala328Ala |
Synonymous |
6/16 |
- |
1 |
2-47643481-T-TT |
c.989dup |
p.Asn331Glufs*2 |
Frameshift |
6/16 |
- |
1 |
2-47643481-T-C |
c.989T>C |
p.Leu330Pro |
Missense |
6/16 |
- |
1 |
2-47643484-A-G |
c.992A>G |
p.Asn331Ser |
Missense |
6/16 |
- |
1 |
2-47643484-A-C |
c.992A>C |
p.Asn331Thr |
Missense |
6/16 |
- |
1 |
2-47643489-TG-AC |
c.997_998delinsAC |
p.Cys333Thr |
Missense |
6/16 |
- |
1 |
2-47643489-T-C |
c.997T>C |
p.Cys333Arg |
Missense |
6/16 |
- |
2 |
2-47643490-G-A |
c.998G>A |
p.Cys333Tyr |
Missense |
6/16 |
- |
6 |
2-47643496-C-T |
c.1004C>T |
p.Thr335Ile |
Missense |
6/16 |
- |
1 |
2-47643504-G-A |
c.1012G>A |
p.Gly338Arg |
Missense |
6/16 |
- |
3 |
2-47643505-G-A |
c.1013G>A |
p.Gly338Glu |
Missense |
6/16 |
- |
1 |
2-47643506-A-T |
c.1014A>T |
p.Gly338Gly |
Synonymous |
6/16 |
- |
1 |
2-47643506-A-C |
c.1014A>C |
p.Gly338Gly |
Synonymous |
6/16 |
- |
1 |
2-47643506-A-G |
c.1014A>G |
p.Gly338Gly |
Synonymous |
6/16 |
- |
1 |
2-47643513-CT-GC |
c.1021_1022delinsGC |
p.Leu341Ala |
Missense |
6/16 |
- |
1 |
2-47643514-T-C |
c.1022T>C |
p.Leu341Pro |
Missense |
6/16 |
- |
2 |
2-47643516-TG-T |
c.1024del |
p.Val342Leufs*15 |
Frameshift |
6/16 |
- |
1 |
2-47643516-G-A |
c.1024G>A |
p.Val342Ile |
Missense |
6/16 |
- |
2 |
2-47643526-G-A |
c.1034G>A |
p.Trp345* |
Nonsense |
6/16 |
- |
2 |
2-47643527-G-A |
c.1035G>A |
p.Trp345* |
Nonsense |
6/16 |
- |
2 |
2-47643529-T-A |
c.1037T>A |
p.Ile346Asn |
Missense |
6/16 |
- |
1 |
2-47643534-C-T |
c.1042C>T |
p.Gln348* |
Nonsense |
6/16 |
- |
2 |
2-47643535-A-G |
c.1043A>G |
p.Gln348Arg |
Missense |
6/16 |
- |
1 |
2-47643536-G-C |
c.1044G>C |
p.Gln348His |
Missense |
6/16 |
- |
1 |
2-47643537-C-G |
c.1045C>G |
p.Pro349Ala |
Missense |
6/16 |
- |
4 |
2-47643538-C-G |
c.1046C>G |
p.Pro349Arg |
Missense |
6/16 |
- |
8 |
2-47643538-C-T |
c.1046C>T |
p.Pro349Leu |
Missense |
6/16 |
- |
7 |
2-47643551-AG-A |
c.1059del |
p.Asn354Thrfs*3 |
Frameshift |
6/16 |
- |
1 |
2-47643554-ACAGAA-A |
c.1062_1066del |
p.Ile356Glyfs*31 |
Frameshift |
6/16 |
- |
1 |
2-47643556-G-A |
c.1064G>A |
p.Arg355Lys |
Missense |
6/16 |
- |
1 |
2-47643559-T-G |
c.1067T>G |
p.Ile356Arg |
Missense |
6/16 |
- |
1 |
2-47643559-T-A |
c.1067T>A |
p.Ile356Lys |
Missense |
6/16 |
- |
1 |
2-47643566-G-C |
c.1074G>C |
p.Glu358Asp |
Missense |
6/16 |
- |
1 |
2-47643566-G-T |
c.1074G>T |
p.Glu358Asp |
Missense |
6/16 |
- |
1 |
2-47643569-G-A |
c.1076+1G>A |
- |
IntronicSNV |
- |
6/15 |
4 |
2-47643569-G-T |
c.1076+1G>T |
- |
IntronicSNV |
- |
6/15 |
1 |
2-47645249-G-T |
c.1076+1681G>T |
- |
IntronicSNV |
- |
6/15 |
6 |
2-47646968-C-T |
c.1076+3400C>T |
- |
IntronicSNV |
- |
6/15 |
9 |
2-47654145-T-G |
c.1077-2736T>G |
- |
IntronicSNV |
- |
6/15 |
1 |
2-47654844-G-T |
c.1077-2037G>T |
- |
IntronicSNV |
- |
6/15 |
2 |
2-47656801-G-T |
c.1077-80G>T |
- |
IntronicSNV |
- |
6/15 |
5 |
2-47656801-G-A |
c.1077-80G>A |
- |
IntronicSNV |
- |
6/15 |
6 |
2-47656871-T-C |
c.1077-10T>C |
- |
IntronicSNV |
- |
6/15 |
1 |
2-47656879-A-C |
c.1077-2A>C |
- |
IntronicSNV |
- |
6/15 |
1 |
2-47656880-G-T |
c.1077-1G>T |
- |
IntronicSNV |
- |
6/15 |
1 |
2-47656881-A-C |
c.1077A>C |
p.Arg359Ser |
Missense |
7/16 |
- |
3 |
2-47656881-A-T |
c.1077A>T |
p.Arg359Ser |
Missense |
7/16 |
- |
3 |
2-47656886-AA-A |
c.1082del |
p.Asn361Ilefs*2 |
Frameshift |
7/16 |
- |
1 |
2-47656890-TAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTC-T |
c.1086_1144del |
p.Val363Serfs*6 |
InFrameDeletion |
7/16 |
- |
1 |
2-47656903-G-A |
c.1099G>A |
p.Val367Ile |
Missense |
7/16 |
- |
1 |
2-47656912-G-A |
c.1108G>A |
p.Ala370Thr |
Missense |
7/16 |
- |
2 |
2-47656924-C-T |
c.1120C>T |
p.Gln374* |
Nonsense |
7/16 |
- |
2 |
2-47656928-C-CG |
c.1124_1125insG |
p.Leu376Phefs*13 |
Frameshift |
7/16 |
- |
1 |
2-47656939-AGATTT-A |
c.1135_1139del |
p.Asp379Thrfs*8 |
Frameshift |
7/16 |
- |
1 |
2-47656944-TA-T |
c.1140del |
p.Leu380Phefs*32 |
Frameshift |
7/16 |
- |
1 |
2-47656947-T-TA |
c.1143_1144insA |
p.Arg382Thrfs*7 |
Frameshift |
7/16 |
- |
2 |
2-47656948-CGT-TGA |
c.1144_1146delinsTGA |
p.Arg382* |
Nonsense |
7/16 |
- |
2 |
2-47656948-TCGTCGATTCCCAGATCTTAACCGACTT-T |
c.1144_1170del |
p.Arg382_Leu390del |
InFrameDeletion |
7/16 |
- |
1 |
2-47656948-TC-T |
c.1144del |
p.Arg382Valfs*30 |
Frameshift |
7/16 |
- |
1 |
2-47656949-G-A |
c.1145G>A |
p.Arg382His |
Missense |
7/16 |
- |
2 |
2-47656951-C-T |
c.1147C>T |
p.Arg383* |
Nonsense |
7/16 |
- |
10 |
2-47656955-T-A |
c.1151T>A |
p.Phe384Tyr |
Missense |
7/16 |
- |
1 |
2-47656960-G-T |
c.1156G>T |
p.Asp386Tyr |
Missense |
7/16 |
- |
1 |
2-47656963-C-G |
c.1159C>G |
p.Leu387Val |
Missense |
7/16 |
- |
1 |
2-47656969-C-T |
c.1165C>T |
p.Arg389* |
Nonsense |
7/16 |
- |
13 |
2-47656970-G-A |
c.1166G>A |
p.Arg389Gln |
Missense |
7/16 |
- |
2 |
2-47656972-C-T |
c.1168C>T |
p.Leu390Phe |
Missense |
7/16 |
- |
16 |
2-47656981-AA-GC |
c.1177_1178delinsGC |
p.Lys393Ala |
Missense |
7/16 |
- |
2 |
2-47656982-A-T |
c.1178A>T |
p.Lys393Met |
Missense |
7/16 |
- |
3 |
2-47656986-T-G |
c.1182T>G |
p.Phe394Leu |
Missense |
7/16 |
- |
1 |
2-47656986-T-A |
c.1182T>A |
p.Phe394Leu |
Missense |
7/16 |
- |
1 |
2-47656984-T-C |
c.1180T>C |
p.Phe394Leu |
Missense |
7/16 |
- |
1 |
2-47656987-C-T |
c.1183C>T |
p.Gln395* |
Nonsense |
7/16 |
- |
2 |
2-47656991-G-A |
c.1187G>A |
p.Arg396Lys |
Missense |
7/16 |
- |
1 |
2-47656993-C-T |
c.1189C>T |
p.Gln397* |
Nonsense |
7/16 |
- |
1 |
2-47656999-GC-AA |
c.1195_1196delinsAA |
p.Ala399Lys |
Missense |
7/16 |
- |
1 |
2-47657007-A-AA |
c.1203dup |
p.Gln402Thrfs*15 |
Frameshift |
7/16 |
- |
4 |
2-47657008-C-T |
c.1204C>T |
p.Gln402* |
Nonsense |
7/16 |
- |
5 |
2-47657008-AC-A |
c.1204del |
p.Gln402Lysfs*10 |
Frameshift |
7/16 |
- |
1 |
2-47657019-C-A |
c.1215C>A |
p.Tyr405* |
Nonsense |
7/16 |
- |
6 |
2-47657020-C-T |
c.1216C>T |
p.Arg406* |
Nonsense |
7/16 |
- |
15 |
2-47657024-T-C |
c.1220T>C |
p.Leu407Pro |
Missense |
7/16 |
- |
1 |
2-47657025-C-A |
c.1221C>A |
p.Leu407Leu |
Synonymous |
7/16 |
- |
1 |
2-47657025-C-G |
c.1221C>G |
p.Leu407Leu |
Synonymous |
7/16 |
- |
1 |
2-47657025-C-T |
c.1221C>T |
p.Leu407Leu |
Synonymous |
7/16 |
- |
1 |
2-47657026-T-TT |
c.1222dup |
p.Tyr408Leufs*9 |
Frameshift |
7/16 |
- |
1 |
2-47657027-A-G |
c.1223A>G |
p.Tyr408Cys |
Missense |
7/16 |
- |
2 |
2-47657028-T-G |
c.1224T>G |
p.Tyr408* |
Nonsense |
7/16 |
- |
2 |
2-47657028-T-A |
c.1224T>A |
p.Tyr408* |
Nonsense |
7/16 |
- |
2 |
2-47657029-C-A |
c.1225C>A |
p.Gln409Lys |
Missense |
7/16 |
- |
2 |
2-47657029-C-T |
c.1225C>T |
p.Gln409* |
Nonsense |
7/16 |
- |
1 |
2-47657030-CAG-C |
c.1226_1227del |
p.Gln409Argfs*7 |
Frameshift |
7/16 |
- |
8 |
2-47657032-G-T |
c.1228G>T |
p.Gly410Cys |
Missense |
7/16 |
- |
1 |
2-47657033-GG-G |
c.1229del |
p.Gly410Valfs*2 |
Frameshift |
7/16 |
- |
1 |
2-47657039-A-G |
c.1235A>G |
p.Asn412Ser |
Missense |
7/16 |
- |
1 |
2-47657041-C-T |
c.1237C>T |
p.Gln413* |
Nonsense |
7/16 |
- |
1 |
2-47657047-C-T |
c.1243C>T |
p.Pro415Ser |
Missense |
7/16 |
- |
1 |
2-47657053-TG-T |
c.1249del |
p.Val417Leufs*21 |
Frameshift |
7/16 |
- |
3 |
2-47657053-TGTTAT-T |
c.1249_1253del |
p.Val417Thrfs*7 |
Frameshift |
7/16 |
- |
1 |
2-47657055-T-TT |
c.1251dup |
p.Ile418Tyrfs*8 |
Frameshift |
7/16 |
- |
1 |
2-47657059-C-T |
c.1255C>T |
p.Gln419* |
Nonsense |
7/16 |
- |
5 |
2-47657059-C-A |
c.1255C>A |
p.Gln419Lys |
Missense |
7/16 |
- |
5 |
2-47657065-C-G |
c.1261C>G |
p.Leu421Val |
Missense |
7/16 |
- |
1 |
2-47657065-C-A |
c.1261C>A |
p.Leu421Met |
Missense |
7/16 |
- |
1 |
2-47657065-CT-TC |
c.1261_1262delinsTC |
p.Leu421Ser |
Missense |
7/16 |
- |
1 |
2-47657068-G-T |
c.1264G>T |
p.Glu422* |
Nonsense |
7/16 |
- |
1 |
2-47657079-A-G |
c.1275A>G |
p.Glu425Glu |
Synonymous |
7/16 |
- |
4 |
2-47657080-G-A |
c.1276G>A |
p.Gly426Arg |
Missense |
7/16 |
- |
1 |
2-47657080-G-C |
c.1276G>C |
p.Gly426Arg |
Missense |
7/16 |
- |
1 |
2-47657082-T-A |
c.1276+2T>A |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47657127-T-A |
c.1276+47T>A |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47657278-CTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTGGCTGGGATTACA-C |
c.1276+198_1276+256del |
- |
Unclassified |
- |
7/15 |
1 |
2-47657684-G-A |
c.1276+604G>A |
- |
IntronicSNV |
- |
7/15 |
3 |
2-47658429-T-A |
c.1276+1349T>A |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47658474-A-T |
c.1276+1394A>T |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47663845-G-A |
c.1276+6765G>A |
- |
IntronicSNV |
- |
7/15 |
3 |
2-47665697-T-G |
c.1277-6990T>G |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47666838-T-C |
c.1277-5849T>C |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47666838-T-G |
c.1277-5849T>G |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47670304-G-C |
c.1277-2383G>C |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47670390-G-A |
c.1277-2297G>A |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47671508-TGCTAAAATTTCTGGAGAAGTTTGGGAACTATTGTTTTGGAGTGAAATGCAGTGTGTTAG-T |
c.1277-1179_1277-1121del |
- |
Unclassified |
- |
7/15 |
1 |
2-47671565-A-G |
c.1277-1122A>G |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47671565-A-T |
c.1277-1122A>T |
- |
IntronicSNV |
- |
7/15 |
2 |
2-47671742-A-T |
c.1277-945A>T |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47671742-A-C |
c.1277-945A>C |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47672475-T-G |
c.1277-212T>G |
- |
IntronicSNV |
- |
7/15 |
4 |
2-47672475-T-A |
c.1277-212T>A |
- |
IntronicSNV |
- |
7/15 |
5 |
2-47672569-G-A |
c.1277-118G>A |
- |
IntronicSNV |
- |
7/15 |
10 |
2-47672569-G-C |
c.1277-118G>C |
- |
IntronicSNV |
- |
7/15 |
8 |
2-47672680-C-A |
c.1277-7C>A |
- |
IntronicSNV |
- |
7/15 |
1 |
2-47672688-GAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTG-G |
c.1279_1337del |
p.Lys427Leufs*21 |
Unclassified |
8/16 |
- |
1 |
2-47672694-C-G |
c.1284C>G |
p.His428Gln |
Missense |
8/16 |
- |
2 |
2-47672696-CA-C |
c.1286del |
p.Gln429Argfs*9 |
Frameshift |
8/16 |
- |
1 |
2-47672699-AA-TG |
c.1289_1290delinsTG |
p.Lys430Met |
Missense |
8/16 |
- |
1 |
2-47672704-ATTGTT-A |
c.1294_1298del |
p.Leu432Glyfs*9 |
Frameshift |
8/16 |
- |
1 |
2-47672705-T-C |
c.1295T>C |
p.Leu432Ser |
Missense |
8/16 |
- |
1 |
2-47672718-T-TT |
c.1308dup |
p.Val437Cysfs*6 |
Frameshift |
8/16 |
- |
2 |
2-47672720-GT-G |
c.1310del |
p.Val437Glyfs*17 |
Frameshift |
8/16 |
- |
1 |
2-47672726-C-T |
c.1316C>T |
p.Pro439Leu |
Missense |
8/16 |
- |
1 |
2-47672729-T-C |
c.1319T>C |
p.Leu440Pro |
Missense |
8/16 |
- |
1 |
2-47672741-G-T |
c.1331G>T |
p.Arg444Leu |
Missense |
8/16 |
- |
1 |
2-47672749-T-G |
c.1339T>G |
p.Phe447Val |
Missense |
8/16 |
- |
1 |
2-47672749-T-C |
c.1339T>C |
p.Phe447Leu |
Missense |
8/16 |
- |
1 |
2-47672751-C-A |
c.1341C>A |
p.Phe447Leu |
Missense |
8/16 |
- |
1 |
2-47672751-C-G |
c.1341C>G |
p.Phe447Leu |
Missense |
8/16 |
- |
1 |
2-47672754-C-T |
c.1344C>T |
p.Ser448Ser |
Synonymous |
8/16 |
- |
1 |
2-47672756-A-C |
c.1346A>C |
p.Lys449Thr |
Missense |
8/16 |
- |
1 |
2-47672771-T-G |
c.1361T>G |
p.Ile454Arg |
Missense |
8/16 |
- |
1 |
2-47672773-G-T |
c.1363G>T |
p.Glu455* |
Nonsense |
8/16 |
- |
1 |
2-47672783-T-G |
c.1373T>G |
p.Leu458* |
Nonsense |
8/16 |
- |
1 |
2-47672785-GA-AT |
c.1375_1376delinsAT |
p.Asp459Ile |
Missense |
8/16 |
- |
1 |
2-47672794-C-T |
c.1384C>T |
p.Gln462* |
Nonsense |
8/16 |
- |
1 |
2-47672797-G-T |
c.1386+1G>T |
- |
IntronicSNV |
- |
8/15 |
3 |
2-47672797-G-A |
c.1386+1G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47672799-A-G |
c.1386+3A>G |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47673515-T-C |
c.1386+719T>C |
- |
IntronicSNV |
- |
8/15 |
4 |
2-47675331-G-C |
c.1386+2535G>C |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47680173-G-T |
c.1386+7377G>T |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47680173-G-A |
c.1386+7377G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47685659-G-C |
c.1387-4511G>C |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47685659-G-T |
c.1387-4511G>T |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47685659-G-A |
c.1387-4511G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47686376-A-G |
c.1387-3794A>G |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47686376-A-T |
c.1387-3794A>T |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47686573-G-T |
c.1387-3597G>T |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47686573-G-A |
c.1387-3597G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47686686-A-G |
c.1387-3484A>G |
- |
IntronicSNV |
- |
8/15 |
2 |
2-47686686-A-T |
c.1387-3484A>T |
- |
IntronicSNV |
- |
8/15 |
2 |
2-47687649-A-C |
c.1387-2521A>C |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47687649-A-T |
c.1387-2521A>T |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47689217-G-A |
c.1387-953G>A |
- |
IntronicSNV |
- |
8/15 |
2 |
2-47689217-G-T |
c.1387-953G>T |
- |
IntronicSNV |
- |
8/15 |
2 |
2-47689256-A-G |
c.1387-914A>G |
- |
IntronicSNV |
- |
8/15 |
2 |
2-47689920-G-A |
c.1387-250G>A |
- |
IntronicSNV |
- |
8/15 |
2 |
2-47690161-T-A |
c.1387-9T>A |
- |
IntronicSNV |
- |
8/15 |
1 |
2-47690173-G-A |
c.1390G>A |
p.Glu464Lys |
Missense |
9/16 |
- |
1 |
2-47690180-A-G |
c.1397A>G |
p.His466Arg |
Missense |
9/16 |
- |
2 |
2-47690182-G-A |
c.1399G>A |
p.Glu467Lys |
Missense |
9/16 |
- |
1 |
2-47690182-G-T |
c.1399G>T |
p.Glu467* |
Nonsense |
9/16 |
- |
1 |
2-47690191-TG-T |
c.1408del |
p.Val470* |
Frameshift |
9/16 |
- |
2 |
2-47690196-A-AA |
c.1413dup |
p.Pro472Thrfs*4 |
Frameshift |
9/16 |
- |
1 |
2-47690201-C-T |
c.1418C>T |
p.Ser473Leu |
Missense |
9/16 |
- |
2 |
2-47690203-ATTTGATCCTAATCTCAGTGAATTA-A |
c.1420_1443del |
p.Phe474_Leu481del |
InFrameDeletion |
9/16 |
- |
1 |
2-47690205-TT-T |
c.1422del |
p.Phe474Leufs*8 |
Frameshift |
9/16 |
- |
1 |
2-47690209-C-T |
c.1426C>T |
p.Pro476Ser |
Missense |
9/16 |
- |
1 |
2-47690215-C-T |
c.1432C>T |
p.Leu478Phe |
Missense |
9/16 |
- |
1 |
2-47690219-G-A |
c.1436G>A |
p.Ser479Asn |
Missense |
9/16 |
- |
1 |
2-47690227-A-AA |
c.1444dup |
p.Arg482Lysfs*6 |
Frameshift |
9/16 |
- |
1 |
2-47690227-A-T |
c.1444A>T |
p.Arg482* |
Nonsense |
9/16 |
- |
4 |
2-47690230-G-T |
c.1447G>T |
p.Glu483* |
Nonsense |
9/16 |
- |
5 |
2-47690240-AATGA-A |
c.1457_1460del |
p.Asn486Thrfs*10 |
Frameshift |
9/16 |
- |
6 |
2-47690240-AA-A |
c.1457del |
p.Asn486Metfs*11 |
Frameshift |
9/16 |
- |
2 |
2-47690244-C-G |
c.1461C>G |
p.Asp487Glu |
Missense |
9/16 |
- |
3 |
2-47690257-A-G |
c.1474A>G |
p.Met492Val |
Missense |
9/16 |
- |
1 |
2-47690260-C-T |
c.1477C>T |
p.Gln493* |
Nonsense |
9/16 |
- |
1 |
2-47690263-T-C |
c.1480T>C |
p.Ser494Pro |
Missense |
9/16 |
- |
1 |
2-47690264-C-G |
c.1481C>G |
p.Ser494* |
Nonsense |
9/16 |
- |
2 |
2-47690277-T-TT |
c.1494dup |
p.Ala499Cysfs*14 |
Frameshift |
9/16 |
- |
1 |
2-47690280-CA-C |
c.1497del |
p.Ala500Profs*26 |
Frameshift |
9/16 |
- |
1 |
2-47690291-T-C |
c.1508T>C |
p.Leu503Pro |
Missense |
9/16 |
- |
1 |
2-47690292-T-TTA |
c.1509_1510insTA |
p.Gly504* |
SpliceDonorInsertion |
9/16 |
- |
1 |
2-47690404-T-C |
c.1510+111T>C |
- |
IntronicSNV |
- |
9/15 |
1 |
2-47690408-A-G |
c.1510+115A>G |
- |
IntronicSNV |
- |
9/15 |
1 |
2-47690411-T-C |
c.1510+118T>C |
- |
IntronicSNV |
- |
9/15 |
3 |
2-47690411-T-A |
c.1510+118T>A |
- |
IntronicSNV |
- |
9/15 |
2 |
2-47692281-C-T |
c.1511-1516C>T |
- |
IntronicSNV |
- |
9/15 |
4 |
2-47693706-G-T |
c.1511-91G>T |
- |
IntronicSNV |
- |
9/15 |
7 |
2-47693788-A-G |
c.1511-9A>G |
- |
IntronicSNV |
- |
9/15 |
1 |
2-47693788-A-T |
c.1511-9A>T |
- |
IntronicSNV |
- |
9/15 |
9 |
2-47693795-A-G |
c.1511-2A>G |
- |
IntronicSNV |
- |
9/15 |
3 |
2-47693796-G-A |
c.1511-1G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
2-47693796-G-T |
c.1511-1G>T |
- |
IntronicSNV |
- |
9/15 |
1 |
2-47693802-G-T |
c.1516G>T |
p.Asp506Tyr |
Missense |
10/16 |
- |
3 |
2-47693806-CC-C |
c.1520del |
p.Pro507Leufs*19 |
Frameshift |
10/16 |
- |
1 |
2-47693814-C-T |
c.1528C>T |
p.Gln510* |
Nonsense |
10/16 |
- |
1 |
2-47693819-T-TT |
c.1533dup |
p.Lys512* |
Nonsense |
10/16 |
- |
1 |
2-47693833-AG-A |
c.1547del |
p.Ser516Metfs*10 |
Frameshift |
10/16 |
- |
1 |
2-47693836-C-T |
c.1550C>T |
p.Ala517Val |
Missense |
10/16 |
- |
1 |
2-47693838-C-T |
c.1552C>T |
p.Gln518* |
Nonsense |
10/16 |
- |
1 |
2-47693852-C-G |
c.1566C>G |
p.Tyr522* |
Nonsense |
10/16 |
- |
1 |
2-47693856-C-T |
c.1570C>T |
p.Arg524Cys |
Missense |
10/16 |
- |
1 |
2-47693857-G-C |
c.1571G>C |
p.Arg524Pro |
Missense |
10/16 |
- |
5 |
2-47693857-G-A |
c.1571G>A |
p.Arg524His |
Missense |
10/16 |
- |
2 |
2-47693857-G-T |
c.1571G>T |
p.Arg524Leu |
Missense |
10/16 |
- |
2 |
2-47693862-AA-A |
c.1576del |
p.Thr526Profs*17 |
Frameshift |
10/16 |
- |
1 |
2-47693862-A-AA |
c.1576dup |
p.Thr526Asnfs*3 |
Frameshift |
10/16 |
- |
1 |
2-47693862-ACC-TAA |
c.1576_1578delinsTAA |
p.Thr526* |
Nonsense |
10/16 |
- |
1 |
2-47693868-A-T |
c.1582A>T |
p.Lys528* |
Nonsense |
10/16 |
- |
1 |
2-47693873-AA-A |
c.1587del |
p.Glu530Lysfs*13 |
Frameshift |
10/16 |
- |
1 |
2-47693879-AAGTCCTTCGTAACAATAAAAA-A |
c.1593_1613del |
p.Lys531_Lys537del |
InFrameDeletion |
10/16 |
- |
1 |
2-47693880-G-GG |
c.1594dup |
p.Val532Glyfs*4 |
Frameshift |
10/16 |
- |
1 |
2-47693883-C-G |
c.1597C>G |
p.Leu533Val |
Missense |
10/16 |
- |
1 |
2-47693886-TCG-T |
c.1600_1601del |
p.Arg534* |
Frameshift |
10/16 |
- |
1 |
2-47693886-TC-T |
c.1600del |
p.Arg534Valfs*9 |
Frameshift |
10/16 |
- |
1 |
2-47693887-G-T |
c.1601G>T |
p.Arg534Leu |
Missense |
10/16 |
- |
1 |
2-47693887-G-C |
c.1601G>C |
p.Arg534Pro |
Missense |
10/16 |
- |
1 |
2-47693887-G-A |
c.1601G>A |
p.Arg534His |
Missense |
10/16 |
- |
2 |
2-47693892-AA-GC |
c.1606_1607delinsGC |
p.Asn536Ala |
Missense |
10/16 |
- |
1 |
2-47693893-A-G |
c.1607A>G |
p.Asn536Ser |
Missense |
10/16 |
- |
1 |
2-47693895-A-T |
c.1609A>T |
p.Lys537* |
Nonsense |
10/16 |
- |
1 |
2-47693897-AAAA-A |
c.1611_1613del |
p.Lys537del |
InFrameDeletion |
10/16 |
- |
1 |
2-47693899-AA-A |
c.1613del |
p.Asn538Thrfs*5 |
Frameshift |
10/16 |
- |
1 |
2-47693904-A-G |
c.1618A>G |
p.Ser540Gly |
Missense |
10/16 |
- |
1 |
2-47693913-G-A |
c.1627G>A |
p.Asp543Asn |
Missense |
10/16 |
- |
1 |
2-47693919-C-T |
c.1633C>T |
p.Gln545* |
Nonsense |
10/16 |
- |
2 |
2-47693922-A-G |
c.1636A>G |
p.Lys546Glu |
Missense |
10/16 |
- |
1 |
2-47693923-A-AA |
c.1637dup |
p.Asn547Glufs*4 |
Frameshift |
10/16 |
- |
1 |
2-47693926-A-G |
c.1640A>G |
p.Asn547Ser |
Missense |
10/16 |
- |
1 |
2-47693929-G-A |
c.1643G>A |
p.Gly548Asp |
Missense |
10/16 |
- |
1 |
2-47693940-A-C |
c.1654A>C |
p.Thr552Pro |
Missense |
10/16 |
- |
1 |
2-47693945-C-A |
c.1659C>A |
p.Asn553Lys |
Missense |
10/16 |
- |
1 |
2-47693946-A-G |
c.1660A>G |
p.Ser554Gly |
Missense |
10/16 |
- |
4 |
2-47693946-A-T |
c.1660A>T |
p.Ser554Cys |
Missense |
10/16 |
- |
2 |
2-47693947-G-A |
c.1661G>A |
p.Ser554Asn |
Missense |
10/16 |
- |
3 |
2-47693947-G-C |
c.1661G>C |
p.Ser554Thr |
Missense |
10/16 |
- |
1 |
2-47693948-G-A |
c.1661+1G>A |
- |
IntronicSNV |
- |
10/15 |
4 |
2-47693948-G-T |
c.1661+1G>T |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47693949-T-G |
c.1661+2T>G |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47693949-T-C |
c.1661+2T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47693959-G-A |
c.1661+12G>A |
- |
IntronicSNV |
- |
10/15 |
11 |
2-47693959-G-T |
c.1661+12G>T |
- |
IntronicSNV |
- |
10/15 |
5 |
2-47694037-T-C |
c.1661+90T>C |
- |
IntronicSNV |
- |
10/15 |
2 |
2-47698086-T-C |
c.1662-18T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47698095-G-A |
c.1662-9G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47698102-A-C |
c.1662-2A>C |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47698102-A-G |
c.1662-2A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
2-47693946-A-C |
c.1660A>C |
p.Ser554Arg |
Missense |
10/16 |
- |
1 |
2-47698104-C-G |
c.1662C>G |
p.Ser554Arg |
Missense |
11/16 |
- |
1 |
2-47698104-C-A |
c.1662C>A |
p.Ser554Arg |
Missense |
11/16 |
- |
1 |
2-47698107-AA-A |
c.1665del |
p.Lys555Asnfs*2 |
Frameshift |
11/16 |
- |
1 |
2-47698108-T-C |
c.1666T>C |
p.Leu556Leu |
Synonymous |
11/16 |
- |
3 |
2-47698110-G-A |
c.1668G>A |
p.Leu556Leu |
Synonymous |
11/16 |
- |
1 |
2-47698109-T-C |
c.1667T>C |
p.Leu556Ser |
Missense |
11/16 |
- |
3 |
2-47698109-T-TA |
c.1667_1668insA |
p.Thr557Aspfs*5 |
Frameshift |
11/16 |
- |
2 |
2-47698109-TT-T |
c.1667del |
p.Leu556* |
Frameshift |
11/16 |
- |
4 |
2-47698110-TGACTT-T |
c.1668_1672del |
p.Leu556Phefs*4 |
Frameshift |
11/16 |
- |
1 |
2-47698111-A-C |
c.1669A>C |
p.Thr557Pro |
Missense |
11/16 |
- |
1 |
2-47698119-TAAAT-T |
c.1677_1680del |
p.Asn560Lysfs*29 |
Frameshift |
11/16 |
- |
1 |
2-47698126-G-T |
c.1684G>T |
p.Glu562* |
Nonsense |
11/16 |
- |
1 |
2-47698129-TA-GC |
c.1687_1688delinsGC |
p.Tyr563Ala |
Missense |
11/16 |
- |
1 |
2-47698130-A-C |
c.1688A>C |
p.Tyr563Ser |
Missense |
11/16 |
- |
2 |
2-47698132-A-G |
c.1690A>G |
p.Thr564Ala |
Missense |
11/16 |
- |
3 |
2-47698138-A-C |
c.1696A>C |
p.Asn566His |
Missense |
11/16 |
- |
1 |
2-47698139-AA-A |
c.1697del |
p.Asn566Ilefs*24 |
Frameshift |
11/16 |
- |
2 |
2-47698146-A-AT |
c.1704_1705insT |
p.Glu569* |
Nonsense |
11/16 |
- |
1 |
2-47698147-AGA-A |
c.1705_1706del |
p.Glu569Ilefs*2 |
Frameshift |
11/16 |
- |
9 |
2-47698148-A-T |
c.1706A>T |
p.Glu569Val |
Missense |
11/16 |
- |
1 |
2-47698149-AA-A |
c.1707del |
p.Glu569Aspfs*21 |
Frameshift |
11/16 |
- |
1 |
2-47698152-T-A |
c.1710T>A |
p.Tyr570* |
Nonsense |
11/16 |
- |
1 |
2-47698153-G-T |
c.1711G>T |
p.Glu571* |
Nonsense |
11/16 |
- |
1 |
2-47698157-GAAG-G |
c.1715_1717del |
p.Glu572del |
InFrameDeletion |
11/16 |
- |
1 |
2-47698162-CC-C |
c.1720del |
p.Gln574Argfs*16 |
Frameshift |
11/16 |
- |
1 |
2-47698165-GG-G |
c.1723del |
p.Asp575Metfs*15 |
Frameshift |
11/16 |
- |
1 |
2-47698170-CC-C |
c.1728del |
p.Ile577Leufs*13 |
Frameshift |
11/16 |
- |
1 |
2-47698172-T-C |
c.1730T>C |
p.Ile577Thr |
Missense |
11/16 |
- |
2 |
2-47698180-G-T |
c.1738G>T |
p.Glu580* |
Nonsense |
11/16 |
- |
6 |
2-47698183-A-AA |
c.1741dup |
p.Ile581Asnfs*17 |
Frameshift |
11/16 |
- |
1 |
2-47698184-T-G |
c.1742T>G |
p.Ile581Ser |
Missense |
11/16 |
- |
1 |
2-47698186-TG-T |
c.1744del |
p.Val582Serfs*8 |
Frameshift |
11/16 |
- |
1 |
2-47698190-A-G |
c.1748A>G |
p.Asn583Ser |
Missense |
11/16 |
- |
1 |
2-47698199-C-G |
c.1757C>G |
p.Ser586* |
Nonsense |
11/16 |
- |
1 |
2-47698200-A-AA |
c.1758dup |
p.Gly587Argfs*11 |
SpliceDonorInsertion |
11/16 |
- |
1 |
2-47698201-G-C |
c.1759G>C |
p.Gly587Arg |
Missense |
11/16 |
- |
4 |
2-47698201-G-T |
c.1759G>T |
p.Gly587Cys |
Missense |
11/16 |
- |
1 |
2-47698202-G-T |
c.1759+1G>T |
- |
IntronicSNV |
- |
11/15 |
1 |
2-47698203-T-A |
c.1759+2T>A |
- |
IntronicSNV |
- |
11/15 |
1 |
2-47698308-A-G |
c.1759+107A>G |
- |
IntronicSNV |
- |
11/15 |
3 |
2-47698308-A-T |
c.1759+107A>T |
- |
IntronicSNV |
- |
11/15 |
1 |
2-47698384-G-A |
c.1759+183G>A |
- |
IntronicSNV |
- |
11/15 |
2 |
2-47698702-A-G |
c.1759+501A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
2-47700957-C-T |
c.1760-1207C>T |
- |
IntronicSNV |
- |
11/15 |
2 |
2-47702163-G-A |
c.1760-1G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
2-47702168-T-A |
c.1764T>A |
p.Tyr588* |
Nonsense |
12/16 |
- |
1 |
2-47702178-A-G |
c.1774A>G |
p.Met592Val |
Missense |
12/16 |
- |
2 |
2-47702179-T-A |
c.1775T>A |
p.Met592Lys |
Missense |
12/16 |
- |
1 |
2-47702181-C-T |
c.1777C>T |
p.Gln593* |
Nonsense |
12/16 |
- |
3 |
2-47702188-T-C |
c.1784T>C |
p.Leu595Pro |
Missense |
12/16 |
- |
1 |
2-47702190-CAAT-C |
c.1786_1788del |
p.Asn596del |
InFrameDeletion |
12/16 |
- |
16 |
2-47702191-AA-A |
c.1787del |
p.Asn596Metfs*4 |
Frameshift |
12/16 |
- |
1 |
2-47702191-A-G |
c.1787A>G |
p.Asn596Ser |
Missense |
12/16 |
- |
4 |
2-47702194-A-C |
c.1790A>C |
p.Asp597Ala |
Missense |
12/16 |
- |
1 |
2-47702200-T-C |
c.1796T>C |
p.Leu599Ser |
Missense |
12/16 |
- |
1 |
2-47702202-G-A |
c.1798G>A |
p.Ala600Thr |
Missense |
12/16 |
- |
1 |
2-47702203-C-T |
c.1799C>T |
p.Ala600Val |
Missense |
12/16 |
- |
3 |
2-47702205-C-T |
c.1801C>T |
p.Gln601* |
Nonsense |
12/16 |
- |
1 |
2-47702209-T-C |
c.1805T>C |
p.Leu602Pro |
Missense |
12/16 |
- |
1 |
2-47702211-G-T |
c.1807G>T |
p.Asp603Tyr |
Missense |
12/16 |
- |
2 |
2-47702211-G-A |
c.1807G>A |
p.Asp603Asn |
Missense |
12/16 |
- |
5 |
2-47702212-A-G |
c.1808A>G |
p.Asp603Gly |
Missense |
12/16 |
- |
2 |
2-47702217-TG-T |
c.1813del |
p.Val605Leufs*30 |
Frameshift |
12/16 |
- |
1 |
2-47702220-G-A |
c.1816G>A |
p.Val606Ile |
Missense |
12/16 |
- |
1 |
2-47702230-C-T |
c.1826C>T |
p.Ala609Val |
Missense |
12/16 |
- |
1 |
2-47702236-GT-G |
c.1832del |
p.Val611Glyfs*24 |
Frameshift |
12/16 |
- |
1 |
2-47702236-T-A |
c.1832T>A |
p.Val611Glu |
Missense |
12/16 |
- |
1 |
2-47702251-C-G |
c.1847C>G |
p.Pro616Arg |
Missense |
12/16 |
- |
3 |
2-47702253-G-T |
c.1849G>T |
p.Val617Phe |
Missense |
12/16 |
- |
1 |
2-47702256-TCCA-T |
c.1852_1854del |
p.Pro618del |
InFrameDeletion |
12/16 |
- |
1 |
2-47702256-CC-TA |
c.1852_1853delinsTA |
p.Pro618* |
Nonsense |
12/16 |
- |
1 |
2-47702257-CC-C |
c.1853del |
p.Pro618Hisfs*17 |
Frameshift |
12/16 |
- |
1 |
2-47702261-T-G |
c.1857T>G |
p.Tyr619* |
Nonsense |
12/16 |
- |
1 |
2-47702265-C-G |
c.1861C>G |
p.Arg621Gly |
Missense |
12/16 |
- |
1 |
2-47702265-C-T |
c.1861C>T |
p.Arg621* |
Nonsense |
12/16 |
- |
20 |
2-47702266-G-A |
c.1862G>A |
p.Arg621Gln |
Missense |
12/16 |
- |
2 |
2-47702268-C-A |
c.1864C>A |
p.Pro622Thr |
Missense |
12/16 |
- |
6 |
2-47702269-C-G |
c.1865C>G |
p.Pro622Arg |
Missense |
12/16 |
- |
1 |
2-47702269-C-A |
c.1865C>A |
p.Pro622Gln |
Missense |
12/16 |
- |
1 |
2-47702269-C-T |
c.1865C>T |
p.Pro622Leu |
Missense |
12/16 |
- |
18 |
2-47702290-A-G |
c.1886A>G |
p.Gln629Arg |
Missense |
12/16 |
- |
9 |
2-47702293-GGAAG-G |
c.1889_1892del |
p.Gly630Glufs*4 |
Frameshift |
12/16 |
- |
1 |
2-47702295-A-AA |
c.1891dup |
p.Arg631Lysfs*13 |
Frameshift |
12/16 |
- |
1 |
2-47702297-A-T |
c.1893A>T |
p.Arg631Ser |
Missense |
12/16 |
- |
1 |
2-47702297-A-C |
c.1893A>C |
p.Arg631Ser |
Missense |
12/16 |
- |
1 |
2-47702298-AA-A |
c.1894del |
p.Ile632Leufs*3 |
Frameshift |
12/16 |
- |
1 |
2-47702305-T-A |
c.1901T>A |
p.Leu634* |
Nonsense |
12/16 |
- |
1 |
2-47702305-T-G |
c.1901T>G |
p.Leu634* |
Nonsense |
12/16 |
- |
1 |
2-47702310-G-C |
c.1906G>C |
p.Ala636Pro |
Missense |
12/16 |
- |
41 |
2-47702310-G-A |
c.1906G>A |
p.Ala636Thr |
Missense |
12/16 |
- |
1 |
2-47702315-CC-C |
c.1911del |
p.Arg638Glyfs*47 |
Frameshift |
12/16 |
- |
4 |
2-47702316-A-T |
c.1912A>T |
p.Arg638Trp |
Missense |
12/16 |
- |
1 |
2-47702318-G-C |
c.1914G>C |
p.Arg638Ser |
Missense |
12/16 |
- |
1 |
2-47702318-G-T |
c.1914G>T |
p.Arg638Ser |
Missense |
12/16 |
- |
1 |
2-47702319-C-T |
c.1915C>T |
p.His639Tyr |
Missense |
12/16 |
- |
5 |
2-47702320-A-G |
c.1916A>G |
p.His639Arg |
Missense |
12/16 |
- |
1 |
2-47702320-A-T |
c.1916A>T |
p.His639Leu |
Missense |
12/16 |
- |
1 |
2-47702321-T-A |
c.1917T>A |
p.His639Gln |
Missense |
12/16 |
- |
3 |
2-47702322-G-T |
c.1918G>T |
p.Ala640Ser |
Missense |
12/16 |
- |
1 |
2-47702328-G-A |
c.1924G>A |
p.Val642Ile |
Missense |
12/16 |
- |
1 |
2-47702331-G-A |
c.1927G>A |
p.Glu643Lys |
Missense |
12/16 |
- |
1 |
2-47702341-A-G |
c.1937A>G |
p.Asp646Gly |
Missense |
12/16 |
- |
1 |
2-47702343-G-A |
c.1939G>A |
p.Glu647Lys |
Missense |
12/16 |
- |
2 |
2-47702349-GCA-TTT |
c.1945_1947delinsTTT |
p.Ala649Phe |
Missense |
12/16 |
- |
1 |
2-47702353-T-C |
c.1949T>C |
p.Phe650Ser |
Missense |
12/16 |
- |
1 |
2-47702359-C-A |
c.1955C>A |
p.Pro652His |
Missense |
12/16 |
- |
2 |
2-47702367-G-A |
c.1963G>A |
p.Val655Ile |
Missense |
12/16 |
- |
1 |
2-47702370-T-C |
c.1966T>C |
p.Tyr656His |
Missense |
12/16 |
- |
1 |
2-47702371-A-G |
c.1967A>G |
p.Tyr656Cys |
Missense |
12/16 |
- |
1 |
2-47702372-C-G |
c.1968C>G |
p.Tyr656* |
Nonsense |
12/16 |
- |
3 |
2-47702377-A-G |
c.1973A>G |
p.Glu658Gly |
Missense |
12/16 |
- |
1 |
2-47702383-A-G |
c.1979A>G |
p.Asp660Gly |
Missense |
12/16 |
- |
2 |
2-47702387-AA-A |
c.1983del |
p.Lys661Asnfs*24 |
Frameshift |
12/16 |
- |
1 |
2-47702388-C-T |
c.1984C>T |
p.Gln662* |
Nonsense |
12/16 |
- |
1 |
2-47702390-AG-A |
c.1986del |
p.Met663Cysfs*22 |
Frameshift |
12/16 |
- |
1 |
2-47702397-CCAC-C |
c.1993_1995del |
p.His665del |
InFrameDeletion |
12/16 |
- |
1 |
2-47702405-TT-T |
c.2001del |
p.Thr668Leufs*17 |
Frameshift |
12/16 |
- |
1 |
2-47702409-G-C |
c.2005G>C |
p.Gly669Arg |
Missense |
12/16 |
- |
1 |
2-47702410-G-C |
c.2005+1G>C |
- |
IntronicSNV |
- |
12/15 |
1 |
2-47702412-TAAAAAACCTGGT-T |
c.2005+3_2005+14del |
- |
IntronicDeletion |
- |
12/15 |
1 |
2-47702417-A-AA |
c.2005+8dup |
- |
IntronicInsertion |
- |
12/15 |
1 |
2-47702470-TT-T |
c.2005+61del |
- |
IntronicDeletion |
- |
12/15 |
1 |
2-47703241-A-G |
c.2006-265A>G |
- |
IntronicSNV |
- |
12/15 |
4 |
2-47703241-A-C |
c.2006-265A>C |
- |
IntronicSNV |
- |
12/15 |
3 |
2-47703290-G-A |
c.2006-216G>A |
- |
IntronicSNV |
- |
12/15 |
2 |
2-47703470-TTAA-TTAATTAA |
c.2006-36_2006-33dup |
- |
IntronicInsertion |
- |
12/15 |
1 |
2-47703500-T-C |
c.2006-6T>C |
- |
IntronicSNV |
- |
12/15 |
25 |
2-47703500-T-A |
c.2006-6T>A |
- |
IntronicSNV |
- |
12/15 |
19 |
2-47703500-T-G |
c.2006-6T>G |
- |
IntronicSNV |
- |
12/15 |
18 |
2-47703502-G-A |
c.2006-4G>A |
- |
IntronicSNV |
- |
12/15 |
1 |
2-47703506-G-T |
c.2006G>T |
p.Gly669Val |
Missense |
13/16 |
- |
3 |
2-47703506-G-A |
c.2006G>A |
p.Gly669Asp |
Missense |
13/16 |
- |
1 |
2-47703507-C-CA |
c.2007_2008insA |
p.Pro670Thrfs*6 |
SpliceAcceptorInsertion |
13/16 |
- |
1 |
2-47703507-C-CG |
c.2007_2008insG |
p.Pro670Alafs*6 |
SpliceAcceptorInsertion |
13/16 |
- |
1 |
2-47703507-C-CT |
c.2007_2008insT |
p.Pro670Serfs*6 |
SpliceAcceptorInsertion |
13/16 |
- |
1 |
2-47703509-C-T |
c.2009C>T |
p.Pro670Leu |
Missense |
13/16 |
- |
1 |
2-47703511-A-T |
c.2011A>T |
p.Asn671Tyr |
Missense |
13/16 |
- |
1 |
2-47703512-A-T |
c.2012A>T |
p.Asn671Ile |
Missense |
13/16 |
- |
1 |
2-47703513-T-A |
c.2013T>A |
p.Asn671Lys |
Missense |
13/16 |
- |
2 |
2-47703518-G-A |
c.2018G>A |
p.Gly673Glu |
Missense |
13/16 |
- |
1 |
2-47703520-G-C |
c.2020G>C |
p.Gly674Arg |
Missense |
13/16 |
- |
3 |
2-47703520-G-A |
c.2020G>A |
p.Gly674Ser |
Missense |
13/16 |
- |
1 |
2-47703521-G-C |
c.2021G>C |
p.Gly674Ala |
Missense |
13/16 |
- |
15 |
2-47703521-G-A |
c.2021G>A |
p.Gly674Asp |
Missense |
13/16 |
- |
5 |
2-47703523-AA-GC |
c.2023_2024delinsGC |
p.Lys675Ala |
Missense |
13/16 |
- |
1 |
2-47703524-A-G |
c.2024A>G |
p.Lys675Arg |
Missense |
13/16 |
- |
2 |
2-47703526-T-C |
c.2026T>C |
p.Ser676Pro |
Missense |
13/16 |
- |
1 |
2-47703527-C-T |
c.2027C>T |
p.Ser676Leu |
Missense |
13/16 |
- |
1 |
2-47703530-C-G |
c.2030C>G |
p.Thr677Arg |
Missense |
13/16 |
- |
2 |
2-47703534-T-G |
c.2034T>G |
p.Tyr678* |
Nonsense |
13/16 |
- |
1 |
2-47703534-T-A |
c.2034T>A |
p.Tyr678* |
Nonsense |
13/16 |
- |
1 |
2-47703535-TAT-T |
c.2035_2036del |
p.Ile679Serfs*19 |
Frameshift |
13/16 |
- |
1 |
2-47703536-T-C |
c.2036T>C |
p.Ile679Thr |
Missense |
13/16 |
- |
2 |
2-47703538-C-T |
c.2038C>T |
p.Arg680* |
Nonsense |
13/16 |
- |
18 |
2-47703539-G-A |
c.2039G>A |
p.Arg680Gln |
Missense |
13/16 |
- |
1 |
2-47703541-C-T |
c.2041C>T |
p.Gln681* |
Nonsense |
13/16 |
- |
2 |
2-47703545-C-G |
c.2045C>G |
p.Thr682Ser |
Missense |
13/16 |
- |
1 |
2-47703546-CTG-C |
c.2046_2047del |
p.Val684Aspfs*14 |
Frameshift |
13/16 |
- |
3 |
2-47703547-G-A |
c.2047G>A |
p.Gly683Arg |
Missense |
13/16 |
- |
6 |
2-47703548-GG-AC |
c.2048_2049delinsAC |
p.Gly683Asp |
Missense |
13/16 |
- |
1 |
2-47703548-G-A |
c.2048G>A |
p.Gly683Glu |
Missense |
13/16 |
- |
2 |
2-47703548-G-C |
c.2048G>C |
p.Gly683Ala |
Missense |
13/16 |
- |
1 |
2-47703550-GT-TA |
c.2050_2051delinsTA |
p.Val684* |
Nonsense |
13/16 |
- |
1 |
2-47703558-A-AA |
c.2058dup |
p.Leu687Thrfs*12 |
Frameshift |
13/16 |
- |
1 |
2-47703562-A-G |
c.2062A>G |
p.Met688Val |
Missense |
13/16 |
- |
2 |
2-47703563-T-G |
c.2063T>G |
p.Met688Arg |
Missense |
13/16 |
- |
4 |
2-47703563-T-A |
c.2063T>A |
p.Met688Lys |
Missense |
13/16 |
- |
1 |
2-47703564-G-A |
c.2064G>A |
p.Met688Ile |
Missense |
13/16 |
- |
6 |
2-47703568-C-G |
c.2068C>G |
p.Gln690Glu |
Missense |
13/16 |
- |
1 |
2-47703572-T-C |
c.2072T>C |
p.Ile691Thr |
Missense |
13/16 |
- |
1 |
2-47703574-G-T |
c.2074G>T |
p.Gly692Trp |
Missense |
13/16 |
- |
1 |
2-47703574-G-A |
c.2074G>A |
p.Gly692Arg |
Missense |
13/16 |
- |
2 |
2-47703574-G-C |
c.2074G>C |
p.Gly692Arg |
Missense |
13/16 |
- |
2 |
2-47703575-G-C |
c.2075G>C |
p.Gly692Ala |
Missense |
13/16 |
- |
1 |
2-47703575-G-T |
c.2075G>T |
p.Gly692Val |
Missense |
13/16 |
- |
4 |
2-47703577-T-C |
c.2077T>C |
p.Cys693Arg |
Missense |
13/16 |
- |
1 |
2-47703578-G-A |
c.2078G>A |
p.Cys693Tyr |
Missense |
13/16 |
- |
3 |
2-47703582-TT-T |
c.2082del |
p.Phe694Leufs*16 |
Frameshift |
13/16 |
- |
1 |
2-47703584-T-A |
c.2084T>A |
p.Val695Glu |
Missense |
13/16 |
- |
1 |
2-47703586-CCA-TTT |
c.2086_2088delinsTTT |
p.Pro696Phe |
Missense |
13/16 |
- |
1 |
2-47703587-C-T |
c.2087C>T |
p.Pro696Leu |
Missense |
13/16 |
- |
4 |
2-47703589-T-C |
c.2089T>C |
p.Cys697Arg |
Missense |
13/16 |
- |
5 |
2-47703590-G-A |
c.2090G>A |
p.Cys697Tyr |
Missense |
13/16 |
- |
3 |
2-47703590-G-T |
c.2090G>T |
p.Cys697Phe |
Missense |
13/16 |
- |
5 |
2-47703591-T-A |
c.2091T>A |
p.Cys697* |
Nonsense |
13/16 |
- |
1 |
2-47703592-G-T |
c.2092G>T |
p.Glu698* |
Nonsense |
13/16 |
- |
1 |
2-47703595-T-C |
c.2095T>C |
p.Ser699Pro |
Missense |
13/16 |
- |
1 |
2-47703599-C-A |
c.2099C>A |
p.Ala700Glu |
Missense |
13/16 |
- |
1 |
2-47703601-G-T |
c.2101G>T |
p.Glu701* |
Nonsense |
13/16 |
- |
1 |
2-47703601-G-A |
c.2101G>A |
p.Glu701Lys |
Missense |
13/16 |
- |
1 |
2-47703605-T-G |
c.2105T>G |
p.Val702Gly |
Missense |
13/16 |
- |
1 |
2-47703605-T-A |
c.2105T>A |
p.Val702Glu |
Missense |
13/16 |
- |
1 |
2-47703608-C-A |
c.2108C>A |
p.Ser703Tyr |
Missense |
13/16 |
- |
3 |
2-47703610-A-G |
c.2110A>G |
p.Ile704Val |
Missense |
13/16 |
- |
1 |
2-47703611-T-C |
c.2111T>C |
p.Ile704Thr |
Missense |
13/16 |
- |
1 |
2-47703613-TG-T |
c.2113del |
p.Val705Trpfs*5 |
Frameshift |
13/16 |
- |
1 |
2-47703620-G-A |
c.2120G>A |
p.Cys707Tyr |
Missense |
13/16 |
- |
1 |
2-47703620-TGCA-T |
c.2120_2122del |
p.Cys707_Ile708delinsPhe |
MultiAAMissense |
13/16 |
- |
2 |
2-47703628-G-T |
c.2128G>T |
p.Ala710Ser |
Missense |
13/16 |
- |
1 |
2-47703631-C-T |
c.2131C>T |
p.Arg711* |
Nonsense |
13/16 |
- |
23 |
2-47703632-G-C |
c.2132G>C |
p.Arg711Pro |
Missense |
13/16 |
- |
1 |
2-47703633-A-ATA |
c.2133_2134insTA |
p.Val712* |
Nonsense |
13/16 |
- |
1 |
2-47703634-AG-A |
c.2134del |
p.Val712* |
Frameshift |
13/16 |
- |
1 |
2-47703635-T-TT |
c.2135dup |
p.Gly713Argfs*4 |
Frameshift |
13/16 |
- |
1 |
2-47703639-G-C |
c.2139G>C |
p.Gly713Gly |
Synonymous |
13/16 |
- |
1 |
2-47703639-G-T |
c.2139G>T |
p.Gly713Gly |
Synonymous |
13/16 |
- |
1 |
2-47703641-C-T |
c.2141C>T |
p.Ala714Val |
Missense |
13/16 |
- |
3 |
2-47703645-GT-G |
c.2145del |
p.Asp716Thrfs*4 |
Frameshift |
13/16 |
- |
3 |
2-47703652-C-T |
c.2152C>T |
p.Gln718* |
Nonsense |
13/16 |
- |
7 |
2-47703654-A-G |
c.2154A>G |
p.Gln718Gln |
Synonymous |
13/16 |
- |
1 |
2-47703657-G-C |
c.2157G>C |
p.Leu719Phe |
Missense |
13/16 |
- |
1 |
2-47703657-G-T |
c.2157G>T |
p.Leu719Phe |
Missense |
13/16 |
- |
1 |
2-47703661-G-T |
c.2161G>T |
p.Gly721* |
Nonsense |
13/16 |
- |
1 |
2-47703664-G-A |
c.2164G>A |
p.Val722Ile |
Missense |
13/16 |
- |
3 |
2-47703664-G-T |
c.2164G>T |
p.Val722Phe |
Missense |
13/16 |
- |
1 |
2-47703668-C-T |
c.2168C>T |
p.Ser723Phe |
Missense |
13/16 |
- |
3 |
2-47703678-G-C |
c.2178G>C |
p.Met726Ile |
Missense |
13/16 |
- |
1 |
2-47703678-G-GA |
c.2178_2179insA |
p.Ala727Serfs*2 |
Frameshift |
13/16 |
- |
1 |
2-47703679-G-T |
c.2179G>T |
p.Ala727Ser |
Missense |
13/16 |
- |
1 |
2-47703685-A-G |
c.2185A>G |
p.Met729Val |
Missense |
13/16 |
- |
1 |
2-47703685-AA-A |
c.2185del |
p.Met729Cysfs*16 |
Frameshift |
13/16 |
- |
1 |
2-47703687-G-T |
c.2187G>T |
p.Met729Ile |
Missense |
13/16 |
- |
3 |
2-47703695-C-T |
c.2195C>T |
p.Thr732Ile |
Missense |
13/16 |
- |
1 |
2-47703696-T-C |
c.2196T>C |
p.Thr732Thr |
Synonymous |
13/16 |
- |
1 |
2-47703697-G-A |
c.2197G>A |
p.Ala733Thr |
Missense |
13/16 |
- |
2 |
2-47703698-C-A |
c.2198C>A |
p.Ala733Asp |
Missense |
13/16 |
- |
1 |
2-47703701-C-A |
c.2201C>A |
p.Ser734Tyr |
Missense |
13/16 |
- |
1 |
2-47703701-C-T |
c.2201C>T |
p.Ser734Phe |
Missense |
13/16 |
- |
1 |
2-47703703-A-G |
c.2203A>G |
p.Ile735Val |
Missense |
13/16 |
- |
3 |
2-47703705-C-A |
c.2205C>A |
p.Ile735Ile |
Synonymous |
13/16 |
- |
1 |
2-47703705-C-T |
c.2205C>T |
p.Ile735Ile |
Synonymous |
13/16 |
- |
1 |
2-47703711-G-A |
c.2210+1G>A |
- |
IntronicSNV |
- |
13/15 |
2 |
2-47703711-G-C |
c.2210+1G>C |
- |
IntronicSNV |
- |
13/15 |
1 |
2-47703717-G-T |
c.2210+7G>T |
- |
IntronicSNV |
- |
13/15 |
2 |
2-47703885-G-A |
c.2210+175G>A |
- |
IntronicSNV |
- |
13/15 |
7 |
2-47703984-T-G |
c.2210+274T>G |
- |
IntronicSNV |
- |
13/15 |
9 |
2-47704027-G-C |
c.2210+317G>C |
- |
IntronicSNV |
- |
13/15 |
6 |
2-47704027-G-A |
c.2210+317G>A |
- |
IntronicSNV |
- |
13/15 |
6 |
2-47705409-A-G |
c.2211-2A>G |
- |
IntronicSNV |
- |
13/15 |
1 |
2-47705409-A-C |
c.2211-2A>C |
- |
IntronicSNV |
- |
13/15 |
2 |
2-47705427-T-C |
c.2227T>C |
p.Ser743Pro |
Missense |
14/16 |
- |
1 |
2-47705428-C-A |
c.2228C>A |
p.Ser743* |
Nonsense |
14/16 |
- |
4 |
2-47705428-C-G |
c.2228C>G |
p.Ser743* |
Nonsense |
14/16 |
- |
2 |
2-47705428-C-T |
c.2228C>T |
p.Ser743Leu |
Missense |
14/16 |
- |
2 |
2-47705431-T-G |
c.2231T>G |
p.Leu744* |
Nonsense |
14/16 |
- |
1 |
2-47705434-T-G |
c.2234T>G |
p.Ile745Arg |
Missense |
14/16 |
- |
1 |
2-47705435-TAAT-T |
c.2235_2237del |
p.Ile747del |
InFrameDeletion |
14/16 |
- |
1 |
2-47705440-ATA-A |
c.2240_2241del |
p.Ile747Argfs*2 |
Frameshift |
14/16 |
- |
1 |
2-47705445-G-A |
c.2245G>A |
p.Glu749Lys |
Missense |
14/16 |
- |
3 |
2-47705445-G-T |
c.2245G>T |
p.Glu749* |
Nonsense |
14/16 |
- |
1 |
2-47705446-A-G |
c.2246A>G |
p.Glu749Gly |
Missense |
14/16 |
- |
1 |
2-47705450-G-C |
c.2250G>C |
p.Leu750Phe |
Missense |
14/16 |
- |
1 |
2-47705451-G-A |
c.2251G>A |
p.Gly751Arg |
Missense |
14/16 |
- |
4 |
2-47705460-A-G |
c.2260A>G |
p.Thr754Ala |
Missense |
14/16 |
- |
1 |
2-47705460-A-T |
c.2260A>T |
p.Thr754Ser |
Missense |
14/16 |
- |
1 |
2-47705461-C-G |
c.2261C>G |
p.Thr754Ser |
Missense |
14/16 |
- |
1 |
2-47705472-G-A |
c.2272G>A |
p.Asp758Asn |
Missense |
14/16 |
- |
1 |
2-47705475-G-A |
c.2275G>A |
p.Gly759Arg |
Missense |
14/16 |
- |
1 |
2-47705475-G-C |
c.2275G>C |
p.Gly759Arg |
Missense |
14/16 |
- |
1 |
2-47705475-G-T |
c.2275G>T |
p.Gly759* |
Nonsense |
14/16 |
- |
1 |
2-47705476-G-A |
c.2276G>A |
p.Gly759Glu |
Missense |
14/16 |
- |
3 |
2-47705481-G-A |
c.2281G>A |
p.Gly761Arg |
Missense |
14/16 |
- |
1 |
2-47705487-G-C |
c.2287G>C |
p.Ala763Pro |
Missense |
14/16 |
- |
1 |
2-47705491-G-A |
c.2291G>A |
p.Trp764* |
Nonsense |
14/16 |
- |
1 |
2-47705492-G-C |
c.2292G>C |
p.Trp764Cys |
Missense |
14/16 |
- |
1 |
2-47705492-G-T |
c.2292G>T |
p.Trp764Cys |
Missense |
14/16 |
- |
1 |
2-47705494-GC-G |
c.2294del |
p.Ala765Valfs*47 |
Frameshift |
14/16 |
- |
1 |
2-47705496-A-G |
c.2296A>G |
p.Ile766Val |
Missense |
14/16 |
- |
1 |
2-47705497-AT-A |
c.2297del |
p.Ile766Asnfs*46 |
Frameshift |
14/16 |
- |
1 |
2-47705500-CAGA-ATATATAT |
c.2300_2303delinsATATATAT |
p.Ser767Tyrfs*21 |
Frameshift |
14/16 |
- |
1 |
2-47705503-A-C |
c.2303A>C |
p.Glu768Ala |
Missense |
14/16 |
- |
1 |
2-47705505-AT-A |
c.2305del |
p.Tyr769Thrfs*43 |
Frameshift |
14/16 |
- |
1 |
2-47705510-TT-T |
c.2310del |
p.Ile770Metfs*42 |
Frameshift |
14/16 |
- |
1 |
2-47705514-A-T |
c.2314A>T |
p.Thr772Ser |
Missense |
14/16 |
- |
1 |
2-47705520-A-G |
c.2320A>G |
p.Ile774Val |
Missense |
14/16 |
- |
2 |
2-47705534-C-A |
c.2334C>A |
p.Cys778* |
Nonsense |
14/16 |
- |
1 |
2-47705544-A-G |
c.2344A>G |
p.Thr782Ala |
Missense |
14/16 |
- |
1 |
2-47705547-CC-C |
c.2347del |
p.His783Ilefs*29 |
Frameshift |
14/16 |
- |
1 |
2-47705552-TT-T |
c.2352del |
p.His785Metfs*27 |
Frameshift |
14/16 |
- |
1 |
2-47705554-A-C |
c.2354A>C |
p.His785Pro |
Missense |
14/16 |
- |
1 |
2-47705562-A-AA |
c.2362dup |
p.Thr788Asnfs*11 |
Frameshift |
14/16 |
- |
2 |
2-47705564-T-TTACA |
c.2364_2365insTACA |
p.Ala789Tyrfs*11 |
Frameshift |
14/16 |
- |
1 |
2-47705566-GCC-G |
c.2366_2367del |
p.Ala789Valfs*9 |
Frameshift |
14/16 |
- |
1 |
2-47705570-TGGCCAA-T |
c.2370_2375del |
p.Leu790_Asn792delinsPhe |
MultiAAMissense |
14/16 |
- |
1 |
2-47705572-C-A |
c.2372C>A |
p.Ala791Asp |
Missense |
14/16 |
- |
1 |
2-47705588-T-G |
c.2388T>G |
p.Thr796Thr |
Synonymous |
14/16 |
- |
1 |
2-47705588-T-A |
c.2388T>A |
p.Thr796Thr |
Synonymous |
14/16 |
- |
1 |
2-47705588-T-C |
c.2388T>C |
p.Thr796Thr |
Synonymous |
14/16 |
- |
1 |
2-47705588-CT-C |
c.2388del |
p.Val797Leufs*15 |
Frameshift |
14/16 |
- |
2 |
2-47705599-T-C |
c.2399T>C |
p.Leu800Pro |
Missense |
14/16 |
- |
1 |
2-47705605-T-C |
c.2405T>C |
p.Val802Ala |
Missense |
14/16 |
- |
1 |
2-47705622-G-T |
c.2422G>T |
p.Glu808* |
Nonsense |
14/16 |
- |
4 |
2-47705625-G-A |
c.2425G>A |
p.Glu809Lys |
Missense |
14/16 |
- |
2 |
2-47705637-AT-TG |
c.2437_2438delinsTG |
p.Met813Trp |
Missense |
14/16 |
- |
1 |
2-47705639-G-A |
c.2439G>A |
p.Met813Ile |
Missense |
14/16 |
- |
1 |
2-47705645-T-A |
c.2445T>A |
p.Tyr815* |
Nonsense |
14/16 |
- |
1 |
2-47705646-C-T |
c.2446C>T |
p.Gln816* |
Nonsense |
14/16 |
- |
1 |
2-47705655-A-T |
c.2455A>T |
p.Lys819* |
Nonsense |
14/16 |
- |
1 |
2-47705660-GT-G |
c.2458+2del |
- |
IntronicDeletion |
- |
14/15 |
1 |
2-47705664-T-C |
c.2458+6T>C |
- |
IntronicSNV |
- |
14/15 |
1 |
2-47707001-A-G |
c.2459-834A>G |
- |
IntronicSNV |
- |
14/15 |
1 |
2-47707817-TT-T |
c.2459-18del |
- |
IntronicDeletion |
- |
14/15 |
1 |
2-47707833-A-C |
c.2459-2A>C |
- |
IntronicSNV |
- |
14/15 |
1 |
2-47707841-G-A |
c.2465G>A |
p.Cys822Tyr |
Missense |
15/16 |
- |
1 |
2-47707846-C-T |
c.2470C>T |
p.Gln824* |
Nonsense |
15/16 |
- |
2 |
2-47707855-G-A |
c.2479G>A |
p.Gly827Arg |
Missense |
15/16 |
- |
1 |
2-47707873-C-G |
c.2497C>G |
p.Leu833Val |
Missense |
15/16 |
- |
1 |
2-47707876-G-A |
c.2500G>A |
p.Ala834Thr |
Missense |
15/16 |
- |
6 |
2-47707878-CTAATTTC-C |
c.2502_2508del |
p.Asn835Leufs*4 |
Frameshift |
15/16 |
- |
2 |
2-47707879-A-C |
c.2503A>C |
p.Asn835His |
Missense |
15/16 |
- |
2 |
2-47707892-A-G |
c.2516A>G |
p.His839Arg |
Missense |
15/16 |
- |
3 |
2-47707895-GTAATAGAGTGTG-G |
c.2519_2530del |
p.Val840_Cys843del |
InFrameDeletion |
15/16 |
- |
1 |
2-47707901-GAG-G |
c.2525_2526del |
p.Glu842Valfs*3 |
Frameshift |
15/16 |
- |
4 |
2-47707903-GT-G |
c.2527del |
p.Cys843Valfs*49 |
Frameshift |
15/16 |
- |
1 |
2-47707904-TG-T |
c.2528del |
p.Cys843Leufs*49 |
Frameshift |
15/16 |
- |
1 |
2-47707909-A-C |
c.2533A>C |
p.Lys845Gln |
Missense |
15/16 |
- |
1 |
2-47707909-A-G |
c.2533A>G |
p.Lys845Glu |
Missense |
15/16 |
- |
3 |
2-47707910-A-G |
c.2534A>G |
p.Lys845Arg |
Missense |
15/16 |
- |
1 |
2-47707912-C-T |
c.2536C>T |
p.Gln846* |
Nonsense |
15/16 |
- |
1 |
2-47707915-A-C |
c.2539A>C |
p.Lys847Gln |
Missense |
15/16 |
- |
1 |
2-47707916-A-G |
c.2540A>G |
p.Lys847Arg |
Missense |
15/16 |
- |
1 |
2-47707918-G-T |
c.2542G>T |
p.Ala848Ser |
Missense |
15/16 |
- |
2 |
2-47707928-T-C |
c.2552T>C |
p.Leu851Pro |
Missense |
15/16 |
- |
1 |
2-47707930-G-T |
c.2554G>T |
p.Glu852* |
Nonsense |
15/16 |
- |
1 |
2-47707933-G-T |
c.2557G>T |
p.Glu853* |
Nonsense |
15/16 |
- |
1 |
2-47707934-A-G |
c.2558A>G |
p.Glu853Gly |
Missense |
15/16 |
- |
1 |
2-47707939-C-T |
c.2563C>T |
p.Gln855* |
Nonsense |
15/16 |
- |
1 |
2-47707940-A-C |
c.2564A>C |
p.Gln855Pro |
Missense |
15/16 |
- |
1 |
2-47707951-G-T |
c.2575G>T |
p.Glu859* |
Nonsense |
15/16 |
- |
1 |
2-47707959-A-G |
c.2583A>G |
p.Gln861Gln |
Synonymous |
15/16 |
- |
2 |
2-47707971-TCAT-T |
c.2595_2597del |
p.Ile865del |
InFrameDeletion |
15/16 |
- |
1 |
2-47707982-C-A |
c.2606C>A |
p.Ala869Glu |
Missense |
15/16 |
- |
1 |
2-47707989-G-C |
c.2613G>C |
p.Lys871Asn |
Missense |
15/16 |
- |
1 |
2-47707989-G-T |
c.2613G>T |
p.Lys871Asn |
Missense |
15/16 |
- |
1 |
2-47708010-G-C |
c.2634G>C |
p.Glu878Asp |
Missense |
15/16 |
- |
1 |
2-47708010-G-T |
c.2634G>T |
p.Glu878Asp |
Missense |
15/16 |
- |
1 |
2-47708011-G-T |
c.2634+1G>T |
- |
IntronicSNV |
- |
15/15 |
2 |
2-47708011-G-A |
c.2634+1G>A |
- |
IntronicSNV |
- |
15/15 |
2 |
2-47709153-G-A |
c.2635-765G>A |
- |
IntronicSNV |
- |
15/15 |
5 |
2-47709704-T-C |
c.2635-214T>C |
- |
IntronicSNV |
- |
15/15 |
5 |
2-47709894-A-G |
c.2635-24A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
2-47709908-T-G |
c.2635-10T>G |
- |
IntronicSNV |
- |
15/15 |
1 |
2-47709915-C-G |
c.2635-3C>G |
- |
IntronicSNV |
- |
15/15 |
1 |
2-47709916-A-G |
c.2635-2A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
2-47709917-G-T |
c.2635-1G>T |
- |
IntronicSNV |
- |
15/15 |
1 |
2-47709922-G-A |
c.2639G>A |
p.Gly880Asp |
Missense |
16/16 |
- |
1 |
2-47709930-AA-A |
c.2647del |
p.Ile883Leufs*9 |
Frameshift |
16/16 |
- |
1 |
2-47709932-T-G |
c.2649T>G |
p.Ile883Met |
Missense |
16/16 |
- |
1 |
2-47709934-T-C |
c.2651T>C |
p.Ile884Thr |
Missense |
16/16 |
- |
1 |
2-47709936-C-T |
c.2653C>T |
p.Gln885* |
Nonsense |
16/16 |
- |
2 |
2-47709939-G-T |
c.2656G>T |
p.Glu886* |
Nonsense |
16/16 |
- |
2 |
2-47709940-A-G |
c.2657A>G |
p.Glu886Gly |
Missense |
16/16 |
- |
2 |
2-47709948-TC-GG |
c.2665_2666delinsGG |
p.Ser889Gly |
Missense |
16/16 |
- |
1 |
2-47709957-A-C |
c.2674A>C |
p.Lys892Gln |
Missense |
16/16 |
- |
1 |
2-47709958-A-G |
c.2675A>G |
p.Lys892Arg |
Missense |
16/16 |
- |
1 |
2-47709982-C-G |
c.2699C>G |
p.Ser900* |
Nonsense |
16/16 |
- |
1 |
2-47709982-C-T |
c.2699C>T |
p.Ser900Leu |
Missense |
16/16 |
- |
1 |
2-47709985-A-T |
c.2702A>T |
p.Glu901Val |
Missense |
16/16 |
- |
1 |
2-47709997-C-G |
c.2714C>G |
p.Thr905Arg |
Missense |
16/16 |
- |
1 |
2-47710009-A-T |
c.2726A>T |
p.Lys909Ile |
Missense |
16/16 |
- |
2 |
2-47710011-C-A |
c.2728C>A |
p.Gln910Lys |
Missense |
16/16 |
- |
1 |
2-47710015-T-A |
c.2732T>A |
p.Leu911Gln |
Missense |
16/16 |
- |
1 |
2-47710015-T-G |
c.2732T>G |
p.Leu911Arg |
Missense |
16/16 |
- |
5 |
2-47710021-GC-G |
c.2738del |
p.Ala913Valfs*3 |
Frameshift |
16/16 |
- |
1 |
2-47710037-G-C |
c.2754G>C |
p.Lys918Asn |
Missense |
16/16 |
- |
1 |
2-47710037-G-T |
c.2754G>T |
p.Lys918Asn |
Missense |
16/16 |
- |
1 |
2-47710050-G-A |
c.2767G>A |
p.Val923Ile |
Missense |
16/16 |
- |
1 |
2-47710051-T-A |
c.2768T>A |
p.Val923Glu |
Missense |
16/16 |
- |
2 |
2-47710066-C-A |
c.2783C>A |
p.Ser928* |
Nonsense |
16/16 |
- |
1 |
2-47710068-C-T |
c.2785C>T |
p.Arg929* |
Nonsense |
16/16 |
- |
7 |
2-47710069-G-A |
c.2786G>A |
p.Arg929Gln |
Missense |
16/16 |
- |
1 |
2-47710075-A-C |
c.2792A>C |
p.Lys931Thr |
Missense |
16/16 |
- |
2 |
2-47710085-G-A |
c.2802G>A |
p.Thr934Thr |
Synonymous |
16/16 |
- |
1 |
2-47710229-T-G |
c.*141T>G |
- |
3-UTRSNV |
16/16 |
- |
1 |