Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-115251162-C-A | c.564G>T | p.Val188Val | Synonymous | 5/7 | - | 1 |
1-115251162-C-G | c.564G>C | p.Val188Val | Synonymous | 5/7 | - | 1 |
1-115251162-C-T | c.564G>A | p.Val188Val | Synonymous | 5/7 | - | 1 |
1-115251162-TC-T | c.564del | p.Met189Cysfs*19 | Frameshift | 5/7 | - | 1 |
1-115251169-C-A | c.557G>T | p.Cys186Phe | Missense | 5/7 | - | 2 |
1-115251169-C-G | c.557G>C | p.Cys186Ser | Missense | 5/7 | - | 3 |
1-115251170-A-T | c.556T>A | p.Cys186Ser | Missense | 5/7 | - | 3 |
1-115251172-GG-AA | c.553_554delinsTT | p.Pro185Leu | Missense | 5/7 | - | 1 |
1-115251178-CC-AC | c.548delinsT | p.Gly183Val | Missense | 5/7 | - | 1 |
1-115251179-C-T | c.547G>A | p.Gly183Arg | Missense | 5/7 | - | 1 |
1-115251183-A-G | c.543T>C | p.Cys181Cys | Synonymous | 5/7 | - | 1 |
1-115251184-CA-GC | c.541_542delinsGC | p.Cys181Ala | Missense | 5/7 | - | 7 |
1-115251184-C-G | c.542G>C | p.Cys181Ser | Missense | 5/7 | - | 6 |
1-115251185-A-T | c.541T>A | p.Cys181Ser | Missense | 5/7 | - | 6 |
1-115251190-T-C | c.536A>G | p.Gln179Arg | Missense | 5/7 | - | 1 |
1-115251217-TT-GC | c.508_509delinsGC | p.Lys170Ala | Missense | 5/7 | - | 1 |
1-115251225-TC-AT | c.500_501delinsAT | p.Arg167His | Missense | 5/7 | - | 1 |
1-115251234-GC-AA | c.491_492delinsTT | p.Arg164Leu | Missense | 5/7 | - | 2 |
1-115251236-G-A | c.490C>T | p.Arg164Cys | Missense | 5/7 | - | 1 |
1-115251244-CT-GC | c.481_482delinsGC | p.Arg161Ala | Missense | 5/7 | - | 2 |
1-115251249-C-A | c.477G>T | p.Leu159Leu | Synonymous | 5/7 | - | 1 |
1-115251259-A-G | c.467T>C | p.Phe156Ser | Missense | 5/7 | - | 1 |
1-115251258-A-C | c.468T>G | p.Phe156Leu | Missense | 5/7 | - | 1 |
1-115251258-A-T | c.468T>A | p.Phe156Leu | Missense | 5/7 | - | 1 |
1-115251260-A-G | c.466T>C | p.Phe156Leu | Missense | 5/7 | - | 1 |
1-115251260-A-T | c.466T>A | p.Phe156Ile | Missense | 5/7 | - | 1 |
1-115251263-C-T | c.463G>A | p.Ala155Thr | Missense | 5/7 | - | 1 |
1-115251268-T-A | c.458A>T | p.Glu153Val | Missense | 5/7 | - | 1 |
1-115251268-T-G | c.458A>C | p.Glu153Ala | Missense | 5/7 | - | 1 |
1-115251271-A-C | c.455T>G | p.Val152Gly | Missense | 5/7 | - | 1 |
1-115252202-G-A | c.438C>T | p.Ala146Ala | Synonymous | 4/7 | - | 2 |
1-115252202-G-C | c.438C>G | p.Ala146Ala | Synonymous | 4/7 | - | 2 |
1-115252202-G-T | c.438C>A | p.Ala146Ala | Synonymous | 4/7 | - | 2 |
1-115252203-G-A | c.437C>T | p.Ala146Val | Missense | 4/7 | - | 15 |
1-115252204-C-A | c.436G>T | p.Ala146Ser | Missense | 4/7 | - | 1 |
1-115252204-C-G | c.436G>C | p.Ala146Pro | Missense | 4/7 | - | 7 |
1-115252204-C-T | c.436G>A | p.Ala146Thr | Missense | 4/7 | - | 34 |
1-115252209-G-A | c.431C>T | p.Thr144Ile | Missense | 4/7 | - | 1 |
1-115252213-C-T | c.427G>A | p.Glu143Lys | Missense | 4/7 | - | 1 |
1-115252222-G-A | c.418C>T | p.Pro140Ser | Missense | 4/7 | - | 1 |
1-115252228-C-G | c.412G>C | p.Gly138Arg | Missense | 4/7 | - | 3 |
1-115252228-C-T | c.412G>A | p.Gly138Arg | Missense | 4/7 | - | 3 |
1-115252231-A-T | c.409T>A | p.Tyr137Asn | Missense | 4/7 | - | 1 |
1-115252236-T-C | c.404A>G | p.Lys135Arg | Missense | 4/7 | - | 1 |
1-115252239-G-A | c.401C>T | p.Ala134Val | Missense | 4/7 | - | 1 |
1-115252245-T-C | c.395A>G | p.Glu132Gly | Missense | 4/7 | - | 1 |
1-115252245-TC-AC | c.395delinsT | p.Glu132Val | Missense | 4/7 | - | 1 |
1-115252246-C-T | c.394G>A | p.Glu132Lys | Missense | 4/7 | - | 1 |
1-115252247-G-A | c.393C>T | p.His131His | Synonymous | 4/7 | - | 1 |
1-115252248-T-C | c.392A>G | p.His131Arg | Missense | 4/7 | - | 10 |
1-115252255-G-A | c.385C>T | p.Gln129* | Nonsense | 4/7 | - | 1 |
1-115252255-G-C | c.385C>G | p.Gln129Glu | Missense | 4/7 | - | 1 |
1-115252260-G-A | c.380C>T | p.Thr127Ile | Missense | 4/7 | - | 1 |
1-115252272-CT-GC | c.367_368delinsGC | p.Arg123Ala | Missense | 4/7 | - | 1 |
1-115252280-C-T | c.360G>A | p.Leu120Leu | Synonymous | 4/7 | - | 2 |
1-115252281-A-C | c.359T>G | p.Leu120Trp | Missense | 4/7 | - | 1 |
1-115252287-C-T | c.353G>A | p.Cys118Tyr | Missense | 4/7 | - | 2 |
1-115252287-C-G | c.353G>C | p.Cys118Ser | Missense | 4/7 | - | 2 |
1-115252288-A-T | c.352T>A | p.Cys118Ser | Missense | 4/7 | - | 2 |
1-115252289-C-A | c.351G>T | p.Lys117Asn | Missense | 4/7 | - | 18 |
1-115252289-C-G | c.351G>C | p.Lys117Asn | Missense | 4/7 | - | 19 |
1-115252290-T-C | c.350A>G | p.Lys117Arg | Missense | 4/7 | - | 2 |
1-115252294-T-G | c.346A>C | p.Asn116His | Missense | 4/7 | - | 1 |
1-115252298-CC-C | c.344del | p.Gly115Glufs*46 | Frameshift | 4/7 | - | 1 |
1-115252310-AGG-TAA | c.328_330delinsTTA | p.Pro110Leu | Nonsense | 4/7 | - | 1 |
1-115252311-G-A | c.329C>T | p.Pro110Leu | Missense | 4/7 | - | 1 |
1-115252311-GG-TA | c.328_329delinsTA | p.Pro110Tyr | Missense | 4/7 | - | 1 |
1-115252312-G-A | c.328C>T | p.Pro110Ser | Missense | 4/7 | - | 1 |
1-115252312-G-C | c.328C>G | p.Pro110Ala | Missense | 4/7 | - | 5 |
1-115252317-TC-TG | c.322delinsC | p.Asp108His | Missense | 4/7 | - | 1 |
1-115252317-T-G | c.323A>C | p.Asp108Ala | Missense | 4/7 | - | 1 |
1-115256421-C-G | c.290G>C | p.Arg97Thr | Missense | 3/7 | - | 1 |
1-115256427-A-G | c.284T>C | p.Leu95Pro | Missense | 3/7 | - | 1 |
1-115256436-T-G | c.275A>C | p.Asp92Ala | Missense | 3/7 | - | 1 |
1-115256437-C-T | c.274G>A | p.Asp92Asn | Missense | 3/7 | - | 1 |
1-115256443-AA-A | c.270del | p.Phe90Leufs*14 | Frameshift | 3/7 | - | 2 |
1-115256463-G-A | c.248C>T | p.Ala83Val | Missense | 3/7 | - | 1 |
1-115256466-A-G | c.245T>C | p.Phe82Ser | Missense | 3/7 | - | 1 |
1-115256471-A-G | c.240T>C | p.Cys80Cys | Synonymous | 3/7 | - | 1 |
1-115256473-A-G | c.238T>C | p.Cys80Arg | Missense | 3/7 | - | 1 |
1-115256484-T-C | c.227A>G | p.Glu76Gly | Missense | 3/7 | - | 1 |
1-115256485-C-T | c.226G>A | p.Glu76Lys | Missense | 3/7 | - | 2 |
1-115256486-CGCCTGTCCTCA-C | c.215_225del | p.Met72Argfs*11 | Frameshift | 3/7 | - | 1 |
1-115256491-T-C | c.220A>G | p.Thr74Ala | Missense | 3/7 | - | 1 |
1-115256495-CAT-TGT | c.215_216delinsCA | p.Met72Thr | Missense | 3/7 | - | 1 |
1-115256497-T-A | c.214A>T | p.Met72Leu | Missense | 3/7 | - | 1 |
1-115256497-T-G | c.214A>C | p.Met72Leu | Missense | 3/7 | - | 1 |
1-115256500-A-C | c.211T>G | p.Tyr71Asp | Missense | 3/7 | - | 1 |
1-115256501-T-A | c.210A>T | p.Gln70His | Missense | 3/7 | - | 1 |
1-115256504-G-A | c.207C>T | p.Asp69Asp | Synonymous | 3/7 | - | 1 |
1-115256504-G-C | c.207C>G | p.Asp69Glu | Missense | 3/7 | - | 1 |
1-115256504-G-T | c.207C>A | p.Asp69Glu | Missense | 3/7 | - | 1 |
1-115256506-C-A | c.205G>T | p.Asp69Tyr | Missense | 3/7 | - | 1 |
1-115256506-C-T | c.205G>A | p.Asp69Asn | Missense | 3/7 | - | 2 |
1-115256508-C-A | c.203G>T | p.Arg68Ile | Missense | 3/7 | - | 1 |
1-115256508-C-G | c.203G>C | p.Arg68Thr | Missense | 3/7 | - | 2 |
1-115256508-C-T | c.203G>A | p.Arg68Lys | Missense | 3/7 | - | 2 |
1-115256513-G-A | c.198C>T | p.Ala66Ala | Synonymous | 3/7 | - | 1 |
1-115256513-G-C | c.198C>G | p.Ala66Ala | Synonymous | 3/7 | - | 1 |
1-115256513-GG-AG | c.198delinsT | p.Ala66Ala | Missense | 3/7 | - | 1 |
1-115256513-G-T | c.198C>A | p.Ala66Ala | Synonymous | 3/7 | - | 1 |
1-115256514-G-A | c.197C>T | p.Ala66Val | Missense | 3/7 | - | 1 |
1-115256514-GC-TT | c.196_197delinsAA | p.Ala66Asn | Missense | 3/7 | - | 1 |
1-115256515-C-G | c.196G>C | p.Ala66Pro | Missense | 3/7 | - | 1 |
1-115256518-T-A | c.193A>T | p.Ser65Cys | Missense | 3/7 | - | 1 |
1-115256520-T-C | c.191A>G | p.Tyr64Cys | Missense | 3/7 | - | 1 |
1-115256521-A-C | c.190T>G | p.Tyr64Asp | Missense | 3/7 | - | 3 |
1-115256521-A-T | c.190T>A | p.Tyr64Asn | Missense | 3/7 | - | 2 |
1-115256524-C-T | c.187G>A | p.Glu63Lys | Missense | 3/7 | - | 14 |
1-115256525-T-C | c.186A>G | p.Glu62Glu | Synonymous | 3/7 | - | 1 |
1-115256525-TTC-CTTATG | c.184_186delinsCATAAG | p.Glu62delinsHisLys | MultiAAMissense | 3/7 | - | 1 |
1-115256527-C-A | c.184G>T | p.Glu62* | Nonsense | 3/7 | - | 1 |
1-115256527-C-G | c.184G>C | p.Glu62Gln | Missense | 3/7 | - | 1 |
1-115256527-C-T | c.184G>A | p.Glu62Lys | Missense | 3/7 | - | 3 |
1-115256527-TC-T | c.184del | p.Glu62Lysfs*6 | Frameshift | 3/7 | - | 1 |
1-115256528-T-A | c.183A>T | p.Gln61His | Missense | 3/7 | - | 163 |
1-115256528-T-C | c.183A>G | p.Gln61Gln | Synonymous | 3/7 | - | 4 |
1-115256528-T-G | c.183A>C | p.Gln61His | Missense | 3/7 | - | 169 |
1-115256528-TT-CC | c.182_183delinsGG | p.Gln61Arg | Missense | 3/7 | - | 1 |
1-115256528-TTG-AAC | c.181_183delinsGTT | p.Gln61Val | Missense | 3/7 | - | 1 |
1-115256528-TTG-CTT | c.181_183delinsAAG | p.Gln61Lys | Missense | 3/7 | - | 1 |
1-115256528-TTG-GAC | c.181_183delinsGTC | p.Gln61Val | Missense | 3/7 | - | 1 |
1-115256529-T-A | c.182A>T | p.Gln61Leu | Missense | 3/7 | - | 313 |
1-115256529-T-C | c.182A>G | p.Gln61Arg | Missense | 3/7 | - | 674 |
1-115256529-T-G | c.182A>C | p.Gln61Pro | Missense | 3/7 | - | 20 |
1-115256529-TG-AT | c.181_182delinsAT | p.Gln61Ile | Missense | 3/7 | - | 1 |
1-115256529-TG-CT | c.181_182delinsAG | p.Gln61Arg | Missense | 3/7 | - | 1 |
1-115256529-TG-GC | c.181_182delinsGC | p.Gln61Ala | Missense | 3/7 | - | 2 |
1-115256529-TG-GT | c.181_182delinsAC | p.Gln61Thr | Missense | 3/7 | - | 1 |
1-115256530-G-A | c.181C>T | p.Gln61* | Nonsense | 3/7 | - | 5 |
1-115256530-G-C | c.181C>G | p.Gln61Glu | Missense | 3/7 | - | 18 |
1-115256530-G-T | c.181C>A | p.Gln61Lys | Missense | 3/7 | - | 730 |
1-115256530-GT-TA | c.180_181delinsTA | p.Gln61Lys | Missense | 3/7 | - | 1 |
1-115256531-T-A | c.180A>T | p.Gly60Gly | Synonymous | 3/7 | - | 2 |
1-115256532-C-A | c.179G>T | p.Gly60Val | Missense | 3/7 | - | 2 |
1-115256532-C-T | c.179G>A | p.Gly60Glu | Missense | 3/7 | - | 25 |
1-115256533-C-T | c.178G>A | p.Gly60Arg | Missense | 3/7 | - | 7 |
1-115256534-AGC-TAA | c.175_177delinsTTA | p.Ala59Leu | Nonsense | 3/7 | - | 2 |
1-115256535-G-C | c.176C>G | p.Ala59Gly | Missense | 3/7 | - | 3 |
1-115256535-GC-TG | c.175_176delinsCA | p.Ala59His | Missense | 3/7 | - | 1 |
1-115256535-G-T | c.176C>A | p.Ala59Asp | Missense | 3/7 | - | 6 |
1-115256536-C-A | c.175G>T | p.Ala59Ser | Missense | 3/7 | - | 1 |
1-115256536-C-T | c.175G>A | p.Ala59Thr | Missense | 3/7 | - | 29 |
1-115256538-G-A | c.173C>T | p.Thr58Ile | Missense | 3/7 | - | 4 |
1-115256538-G-C | c.173C>G | p.Thr58Arg | Missense | 3/7 | - | 1 |
1-115256539-T-C | c.172A>G | p.Thr58Ala | Missense | 3/7 | - | 4 |
1-115256540-A-C | c.171T>G | p.Asp57Glu | Missense | 3/7 | - | 2 |
1-115256540-A-T | c.171T>A | p.Asp57Glu | Missense | 3/7 | - | 2 |
1-115256542-C-T | c.169G>A | p.Asp57Asn | Missense | 3/7 | - | 1 |
1-115256550-T-C | c.161A>G | p.Asp54Gly | Missense | 3/7 | - | 1 |
1-115256551-C-T | c.160G>A | p.Asp54Asn | Missense | 3/7 | - | 1 |
1-115256556-A-C | c.155T>G | p.Leu52Trp | Missense | 3/7 | - | 1 |
1-115256556-A-G | c.155T>C | p.Leu52Ser | Missense | 3/7 | - | 1 |
1-115256555-C-T | c.156G>A | p.Leu52Leu | Synonymous | 3/7 | - | 1 |
1-115256557-A-C | c.154T>G | p.Leu52Val | Missense | 3/7 | - | 1 |
1-115256557-A-G | c.154T>C | p.Leu52Leu | Synonymous | 3/7 | - | 1 |
1-115256559-C-T | c.152G>A | p.Cys51Tyr | Missense | 3/7 | - | 1 |
1-115256562-G-A | c.149C>T | p.Thr50Ile | Missense | 3/7 | - | 17 |
1-115256565-T-G | c.146A>C | p.Glu49Ala | Missense | 3/7 | - | 1 |
1-115256566-C-T | c.145G>A | p.Glu49Lys | Missense | 3/7 | - | 2 |
1-115256569-C-G | c.142G>C | p.Gly48Arg | Missense | 3/7 | - | 1 |
1-115256571-T-G | c.140A>C | p.Asp47Ala | Missense | 3/7 | - | 3 |
1-115256573-T-C | c.138A>G | p.Ile46Met | Missense | 3/7 | - | 2 |
1-115256577-A-G | c.134T>C | p.Val45Ala | Missense | 3/7 | - | 1 |
1-115256592-TA-GC | c.118_119delinsGC | p.Tyr40Ala | Missense | 3/7 | - | 1 |
1-115256592-T-C | c.119A>G | p.Tyr40Cys | Missense | 3/7 | - | 2 |
1-115256595-G-A | c.116C>T | p.Ser39Phe | Missense | 3/7 | - | 2 |
1-115256598-T-G | c.113A>C | p.Asp38Ala | Missense | 3/7 | - | 2 |
1-115256599-C-T | c.112G>A | p.Asp38Asn | Missense | 3/7 | - | 1 |
1-115258669-A-G | c.111+2T>C | - | IntronicSNV | - | 2/6 | 1 |
1-115258672-T-C | c.110A>G | p.Glu37Gly | Missense | 2/7 | - | 4 |
1-115258672-T-G | c.110A>C | p.Glu37Ala | Missense | 2/7 | - | 1 |
1-115258673-C-T | c.109G>A | p.Glu37Lys | Missense | 2/7 | - | 1 |
1-115258677-G-A | c.105C>T | p.Thr35Thr | Synonymous | 2/7 | - | 1 |
1-115258677-G-C | c.105C>G | p.Thr35Thr | Synonymous | 2/7 | - | 1 |
1-115258677-G-T | c.105C>A | p.Thr35Thr | Synonymous | 2/7 | - | 1 |
1-115258678-G-C | c.104C>G | p.Thr35Ser | Missense | 2/7 | - | 3 |
1-115258679-T-A | c.103A>T | p.Thr35Ser | Missense | 2/7 | - | 3 |
1-115258679-T-C | c.103A>G | p.Thr35Ala | Missense | 2/7 | - | 1 |
1-115258681-G-A | c.101C>T | p.Pro34Leu | Missense | 2/7 | - | 3 |
1-115258682-G-T | c.100C>A | p.Pro34Thr | Missense | 2/7 | - | 1 |
1-115258683-A-C | c.99T>G | p.Asp33Glu | Missense | 2/7 | - | 2 |
1-115258683-A-G | c.99T>C | p.Asp33Asp | Synonymous | 2/7 | - | 2 |
1-115258683-A-T | c.99T>A | p.Asp33Glu | Missense | 2/7 | - | 1 |
1-115258685-C-T | c.97G>A | p.Asp33Asn | Missense | 2/7 | - | 1 |
1-115258686-A-G | c.96T>C | p.Tyr32Tyr | Synonymous | 2/7 | - | 1 |
1-115258687-T-C | c.95A>G | p.Tyr32Cys | Missense | 2/7 | - | 1 |
1-115258688-A-G | c.94T>C | p.Tyr32His | Missense | 2/7 | - | 1 |
1-115258689-T-C | c.93A>G | p.Glu31Glu | Synonymous | 2/7 | - | 1 |
1-115258690-T-G | c.92A>C | p.Glu31Ala | Missense | 2/7 | - | 1 |
1-115258691-C-T | c.91G>A | p.Glu31Lys | Missense | 2/7 | - | 1 |
1-115258698-AAA-GAG | c.82_84delinsCTC | p.Phe28Leu | Missense | 2/7 | - | 1 |
1-115258699-A-G | c.83T>C | p.Phe28Ser | Missense | 2/7 | - | 1 |
1-115258698-A-C | c.84T>G | p.Phe28Leu | Missense | 2/7 | - | 1 |
1-115258698-A-T | c.84T>A | p.Phe28Leu | Missense | 2/7 | - | 1 |
1-115258700-A-G | c.82T>C | p.Phe28Leu | Missense | 2/7 | - | 1 |
1-115258701-G-A | c.81C>T | p.His27His | Synonymous | 2/7 | - | 2 |
1-115258711-A-T | c.71T>A | p.Ile24Asn | Missense | 2/7 | - | 8 |
1-115258713-T-C | c.69A>G | p.Leu23Leu | Synonymous | 2/7 | - | 1 |
1-115258718-G-A | c.64C>T | p.Gln22* | Nonsense | 2/7 | - | 1 |
1-115258718-G-T | c.64C>A | p.Gln22Lys | Missense | 2/7 | - | 4 |
1-115258725-C-A | c.57G>T | p.Leu19Leu | Synonymous | 2/7 | - | 1 |
1-115258725-CAG-TTT | c.55_57delinsAAA | p.Leu19Lys | Missense | 2/7 | - | 1 |
1-115258725-C-G | c.57G>C | p.Leu19Leu | Synonymous | 2/7 | - | 1 |
1-115258725-C-T | c.57G>A | p.Leu19Leu | Synonymous | 2/7 | - | 1 |
1-115258727-G-A | c.55C>T | p.Leu19Leu | Synonymous | 2/7 | - | 1 |
1-115258729-G-A | c.53C>T | p.Ala18Val | Missense | 2/7 | - | 1 |
1-115258730-C-G | c.52G>C | p.Ala18Pro | Missense | 2/7 | - | 1 |
1-115258730-C-T | c.52G>A | p.Ala18Thr | Missense | 2/7 | - | 15 |
1-115258732-C-A | c.50G>T | p.Ser17Ile | Missense | 2/7 | - | 1 |
1-115258732-C-T | c.50G>A | p.Ser17Asn | Missense | 2/7 | - | 6 |
1-115258733-T-C | c.49A>G | p.Ser17Gly | Missense | 2/7 | - | 2 |
1-115258736-T-C | c.46A>G | p.Lys16Glu | Missense | 2/7 | - | 1 |
1-115258737-CC-AC | c.45delinsT | p.Gly15Gly | Missense | 2/7 | - | 3 |
1-115258737-CCC-AGC | c.44_45delinsCT | p.Gly15Ala | Missense | 2/7 | - | 1 |
1-115258738-C-G | c.44G>C | p.Gly15Ala | Missense | 2/7 | - | 1 |
1-115258739-C-A | c.43G>T | p.Gly15Trp | Missense | 2/7 | - | 1 |
1-115258742-C-T | c.40G>A | p.Val14Ile | Missense | 2/7 | - | 1 |
1-115258743-A-C | c.39T>G | p.Gly13Gly | Synonymous | 2/7 | - | 2 |
1-115258743-A-G | c.39T>C | p.Gly13Gly | Synonymous | 2/7 | - | 2 |
1-115258743-A-T | c.39T>A | p.Gly13Gly | Synonymous | 2/7 | - | 2 |
1-115258744-C-A | c.38G>T | p.Gly13Val | Missense | 2/7 | - | 70 |
1-115258744-CC-AA | c.37_38delinsTT | p.Gly13Phe | Missense | 2/7 | - | 1 |
1-115258744-C-G | c.38G>C | p.Gly13Ala | Missense | 2/7 | - | 23 |
1-115258744-C-T | c.38G>A | p.Gly13Asp | Missense | 2/7 | - | 157 |
1-115258745-C-A | c.37G>T | p.Gly13Cys | Missense | 2/7 | - | 38 |
1-115258745-C-G | c.37G>C | p.Gly13Arg | Missense | 2/7 | - | 144 |
1-115258745-C-T | c.37G>A | p.Gly13Ser | Missense | 2/7 | - | 19 |
1-115258746-A-C | c.36T>G | p.Gly12Gly | Synonymous | 2/7 | - | 1 |
1-115258746-A-G | c.36T>C | p.Gly12Gly | Synonymous | 2/7 | - | 1 |
1-115258746-A-T | c.36T>A | p.Gly12Gly | Synonymous | 2/7 | - | 1 |
1-115258747-C-A | c.35G>T | p.Gly12Val | Missense | 2/7 | - | 152 |
1-115258747-CC-AA | c.34_35delinsTT | p.Gly12Phe | Missense | 2/7 | - | 2 |
1-115258747-CC-AT | c.34_35delinsAT | p.Gly12Ile | Missense | 2/7 | - | 1 |
1-115258747-C-G | c.35G>C | p.Gly12Ala | Missense | 2/7 | - | 60 |
1-115258747-C-T | c.35G>A | p.Gly12Asp | Missense | 2/7 | - | 353 |
1-115258748-C-A | c.34G>T | p.Gly12Cys | Missense | 2/7 | - | 94 |
1-115258748-C-G | c.34G>C | p.Gly12Arg | Missense | 2/7 | - | 48 |
1-115258748-C-T | c.34G>A | p.Gly12Ser | Missense | 2/7 | - | 113 |
1-115258750-G-A | c.32C>T | p.Ala11Val | Missense | 2/7 | - | 1 |
1-115258751-C-T | c.31G>A | p.Ala11Thr | Missense | 2/7 | - | 2 |
1-115258752-TC-AC | c.30delinsT | p.Gly10Gly | Missense | 2/7 | - | 2 |
1-115258753-C-T | c.29G>A | p.Gly10Glu | Missense | 2/7 | - | 2 |