Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-40618947-G-T | c.14G>T | p.Ser5Ile | Missense | 1/51 | - | 1 |
12-40618961-G-A | c.28G>A | p.Glu10Lys | Missense | 1/51 | - | 2 |
12-40618964-GA-AG | c.31_32delinsAG | p.Glu11Arg | Missense | 1/51 | - | 1 |
12-40618964-GAG-TTT | c.31_33delinsTTT | p.Glu11Phe | Missense | 1/51 | - | 1 |
12-40618965-A-C | c.32A>C | p.Glu11Ala | Missense | 1/51 | - | 1 |
12-40618973-GA-AG | c.40_41delinsAG | p.Glu14Arg | Missense | 1/51 | - | 1 |
12-40618973-GAA-TTT | c.40_42delinsTTT | p.Glu14Phe | Missense | 1/51 | - | 1 |
12-40618983-AG-TC | c.50_51delinsTC | p.Lys17Ile | Missense | 1/51 | - | 1 |
12-40619014-G-T | c.81G>T | p.Gln27His | Missense | 1/51 | - | 2 |
12-40619021-AA-GC | c.88_89delinsGC | p.Lys30Ala | Missense | 1/51 | - | 4 |
12-40619045-A-AA | c.112dup | p.Ile38Asnfs*71 | Frameshift | 1/51 | - | 1 |
12-40619069-A-G | c.136A>G | p.Thr46Ala | Missense | 1/51 | - | 2 |
12-40619078-G-A | c.145G>A | p.Glu49Lys | Missense | 1/51 | - | 1 |
12-40619082-G-A | c.149G>A | p.Arg50His | Missense | 1/51 | - | 4 |
12-40619343-C-T | c.152-14C>T | - | IntronicSNV | - | 1/50 | 1 |
12-40619360-C-T | c.155C>T | p.Ser52Phe | Missense | 2/51 | - | 1 |
12-40619377-AA-GC | c.172_173delinsGC | p.Lys58Ala | Missense | 2/51 | - | 1 |
12-40619377-A-C | c.172A>C | p.Lys58Gln | Missense | 2/51 | - | 1 |
12-40619377-A-G | c.172A>G | p.Lys58Glu | Missense | 2/51 | - | 1 |
12-40619419-A-G | c.214A>G | p.Met72Val | Missense | 2/51 | - | 1 |
12-40619422-AG-CT | c.217_218inv | p.Arg73Leu | Missense | 2/51 | - | 1 |
12-40619423-G-C | c.218G>C | p.Arg73Thr | Missense | 2/51 | - | 1 |
12-40619430-G-A | c.225G>A | p.Ala75Ala | Synonymous | 2/51 | - | 2 |
12-40619430-G-T | c.225G>T | p.Ala75Ala | Synonymous | 2/51 | - | 2 |
12-40619431-AGT-GAG | c.226_228delinsGAG | p.Ser76Glu | Missense | 2/51 | - | 1 |
12-40619438-A-T | c.233A>T | p.Gln78Leu | Missense | 2/51 | - | 1 |
12-40619441-A-T | c.236A>T | p.Gln79Leu | Missense | 2/51 | - | 4 |
12-40620808-C-G | c.237+1366C>G | - | IntronicSNV | - | 2/50 | 21 |
12-40620815-G-A | c.237+1373G>A | - | IntronicSNV | - | 2/50 | 3 |
12-40621892-A-G | c.237+2450A>G | - | IntronicSNV | - | 2/50 | 1 |
12-40622790-C-T | c.238-3286C>T | - | IntronicSNV | - | 2/50 | 1 |
12-40623727-G-A | c.238-2349G>A | - | IntronicSNV | - | 2/50 | 3 |
12-40625081-G-A | c.238-995G>A | - | IntronicSNV | - | 2/50 | 1 |
12-40626145-C-A | c.307C>A | p.Gln103Lys | Missense | 3/51 | - | 1 |
12-40626176-G-C | c.338G>C | p.Gly113Ala | Missense | 3/51 | - | 1 |
12-40629436-T-C | c.356T>C | p.Leu119Pro | Missense | 4/51 | - | 5 |
12-40629444-C-T | c.364C>T | p.Leu122Leu | Synonymous | 4/51 | - | 1 |
12-40629457-A-T | c.377A>T | p.Asn126Ile | Missense | 4/51 | - | 1 |
12-40629498-G-C | c.418G>C | p.Asp140His | Missense | 4/51 | - | 2 |
12-40629554-A-T | c.436+38A>T | - | IntronicSNV | - | 4/50 | 1 |
12-40631608-G-A | c.437-163G>A | - | IntronicSNV | - | 4/50 | 1 |
12-40631779-A-G | c.445A>G | p.Thr149Ala | Missense | 5/51 | - | 1 |
12-40631788-A-C | c.454A>C | p.Ile152Leu | Missense | 5/51 | - | 1 |
12-40631788-A-T | c.454A>T | p.Ile152Leu | Missense | 5/51 | - | 1 |
12-40631791-T-A | c.457T>A | p.Leu153Met | Missense | 5/51 | - | 6 |
12-40631791-T-C | c.457T>C | p.Leu153Leu | Synonymous | 5/51 | - | 13 |
12-40631793-G-A | c.459G>A | p.Leu153Leu | Synonymous | 5/51 | - | 7 |
12-40631843-T-G | c.509T>G | p.Phe170Cys | Missense | 5/51 | - | 1 |
12-40631867-A-C | c.533A>C | p.Lys178Thr | Missense | 5/51 | - | 1 |
12-40631880-A-G | c.546A>G | p.Lys182Lys | Synonymous | 5/51 | - | 1 |
12-40632099-T-G | c.571+194T>G | - | IntronicSNV | - | 5/50 | 3 |
12-40632100-C-T | c.571+195C>T | - | IntronicSNV | - | 5/50 | 2 |
12-40633314-T-A | c.572-971T>A | - | IntronicSNV | - | 5/50 | 2 |
12-40633314-T-C | c.572-971T>C | - | IntronicSNV | - | 5/50 | 2 |
12-40633314-T-G | c.572-971T>G | - | IntronicSNV | - | 5/50 | 2 |
12-40634158-T-C | c.572-127T>C | - | IntronicSNV | - | 5/50 | 1 |
12-40634203-A-G | c.572-82A>G | - | IntronicSNV | - | 5/50 | 1 |
12-40634290-G-A | c.577G>A | p.Glu193Lys | Missense | 6/51 | - | 6 |
12-40634345-C-T | c.632C>T | p.Ala211Val | Missense | 6/51 | - | 4 |
12-40634396-G-C | c.683G>C | p.Cys228Ser | Missense | 6/51 | - | 3 |
12-40637358-A-T | c.713A>T | p.Asn238Ile | Missense | 7/51 | - | 2 |
12-40637421-C-A | c.776C>A | p.Ala259Glu | Missense | 7/51 | - | 1 |
12-40637434-T-TT | c.789dup | p.Glu264* | Nonsense | 7/51 | - | 1 |
12-40637437-A-ATTTAA | c.792_793insTTTAA | p.Arg265Phefs*7 | Frameshift | 7/51 | - | 1 |
12-40637438-AGA-TGT | c.793_795delinsTGT | p.Arg265Cys | Missense | 7/51 | - | 1 |
12-40637470-T-C | c.825T>C | p.His275His | Synonymous | 7/51 | - | 2 |
12-40639561-A-G | c.838+2078A>G | - | IntronicSNV | - | 7/50 | 1 |
12-40639561-A-T | c.838+2078A>T | - | IntronicSNV | - | 7/50 | 1 |
12-40640626-A-G | c.839-3002A>G | - | IntronicSNV | - | 7/50 | 1 |
12-40641692-A-G | c.839-1936A>G | - | IntronicSNV | - | 7/50 | 3 |
12-40643468-C-T | c.839-160C>T | - | IntronicSNV | - | 7/50 | 1 |
12-40643656-C-T | c.867C>T | p.Asn289Asn | Synonymous | 8/51 | - | 1 |
12-40643683-T-C | c.894T>C | p.Ala298Ala | Synonymous | 8/51 | - | 1 |
12-40643725-G-A | c.936G>A | p.Ala312Ala | Synonymous | 8/51 | - | 1 |
12-40643725-G-T | c.936G>T | p.Ala312Ala | Synonymous | 8/51 | - | 1 |
12-40644874-C-A | c.959-160C>A | - | IntronicSNV | - | 8/50 | 1 |
12-40644874-C-T | c.959-160C>T | - | IntronicSNV | - | 8/50 | 1 |
12-40645075-G-A | c.1000G>A | p.Glu334Lys | Missense | 9/51 | - | 6 |
12-40645114-TT-CC | c.1039_1040delinsCC | p.Leu347Pro | Missense | 9/51 | - | 1 |
12-40645150-T-A | c.1075T>A | p.Trp359Arg | Missense | 9/51 | - | 1 |
12-40645150-T-C | c.1075T>C | p.Trp359Arg | Missense | 9/51 | - | 1 |
12-40645163-A-G | c.1088A>G | p.Asn363Ser | Missense | 9/51 | - | 1 |
12-40645171-G-A | c.1096G>A | p.Val366Met | Missense | 9/51 | - | 1 |
12-40645257-C-A | c.1102-10C>A | - | IntronicSNV | - | 9/50 | 2 |
12-40645282-GCA-TTT | c.1117_1119delinsTTT | p.Ala373Phe | Missense | 10/51 | - | 1 |
12-40645340-GAT-G | c.1175_1176del | p.Asp392Glyfs*7 | Frameshift | 10/51 | - | 1 |
12-40645596-A-G | c.1181+250A>G | - | IntronicSNV | - | 10/50 | 1 |
12-40645630-G-A | c.1181+284G>A | - | IntronicSNV | - | 10/50 | 7 |
12-40646785-G-A | c.1255G>A | p.Ala419Thr | Missense | 11/51 | - | 1 |
12-40646786-C-T | c.1256C>T | p.Ala419Val | Missense | 11/51 | - | 19 |
12-40646818-G-A | c.1288G>A | p.Val430Ile | Missense | 11/51 | - | 1 |
12-40646948-G-A | c.1288+130G>A | - | IntronicSNV | - | 11/50 | 1 |
12-40646982-T-G | c.1288+164T>G | - | IntronicSNV | - | 11/50 | 1 |
12-40649888-G-A | c.1289-1162G>A | - | IntronicSNV | - | 11/50 | 1 |
12-40650502-G-A | c.1289-548G>A | - | IntronicSNV | - | 11/50 | 2 |
12-40651070-TT-CC | c.1309_1310delinsCC | p.Leu437Pro | Missense | 12/51 | - | 2 |
12-40651097-T-A | c.1336T>A | p.Leu446Met | Missense | 12/51 | - | 1 |
12-40651104-T-C | c.1343T>C | p.Leu448Ser | Missense | 12/51 | - | 1 |
12-40651127-C-T | c.1366C>T | p.Pro456Ser | Missense | 12/51 | - | 1 |
12-40651144-T-C | c.1383T>C | p.Ser461Ser | Synonymous | 12/51 | - | 1 |
12-40651169-T-C | c.1408T>C | p.Phe470Leu | Missense | 12/51 | - | 1 |
12-40651171-T-A | c.1410T>A | p.Phe470Leu | Missense | 12/51 | - | 1 |
12-40651171-T-G | c.1410T>G | p.Phe470Leu | Missense | 12/51 | - | 1 |
12-40652394-A-G | c.1419-888A>G | - | IntronicSNV | - | 12/50 | 1 |
12-40652520-T-C | c.1419-762T>C | - | IntronicSNV | - | 12/50 | 3 |
12-40653327-A-T | c.1464A>T | p.Leu488Leu | Synonymous | 13/51 | - | 1 |
12-40653407-G-GG | c.1543+1dup | - | SpliceDonorInsertion | 13/51 | - | 1 |
12-40653510-G-A | c.1543+104G>A | - | IntronicSNV | - | 13/50 | 3 |
12-40657225-G-A | c.1544-366G>A | - | IntronicSNV | - | 13/50 | 1 |
12-40657537-A-G | c.1544-54A>G | - | IntronicSNV | - | 13/50 | 1 |
12-40657537-A-T | c.1544-54A>T | - | IntronicSNV | - | 13/50 | 1 |
12-40657608-A-G | c.1561A>G | p.Arg521Gly | Missense | 14/51 | - | 2 |
12-40657677-AA-GT | c.1630_1631delinsGT | p.Lys544Val | Missense | 14/51 | - | 1 |
12-40657677-A-G | c.1630A>G | p.Lys544Glu | Missense | 14/51 | - | 3 |
12-40657700-C-A | c.1653C>A | p.Asn551Lys | Missense | 14/51 | - | 34 |
12-40657700-C-G | c.1653C>G | p.Asn551Lys | Missense | 14/51 | - | 36 |
12-40657704-GG-G | c.1656+1del | - | Frameshift | - | 14/50 | 1 |
12-40657771-C-A | c.1656+68C>A | - | IntronicSNV | - | 14/50 | 1 |
12-40657771-C-G | c.1656+68C>G | - | IntronicSNV | - | 14/50 | 1 |
12-40657771-C-T | c.1656+68C>T | - | IntronicSNV | - | 14/50 | 1 |
12-40661403-A-C | c.1656+3700A>C | - | IntronicSNV | - | 14/50 | 2 |
12-40661403-A-T | c.1656+3700A>T | - | IntronicSNV | - | 14/50 | 2 |
12-40663596-G-T | c.1657-4789G>T | - | IntronicSNV | - | 14/50 | 2 |
12-40664643-T-A | c.1657-3742T>A | - | IntronicSNV | - | 14/50 | 1 |
12-40665227-G-A | c.1657-3158G>A | - | IntronicSNV | - | 14/50 | 1 |
12-40665227-G-C | c.1657-3158G>C | - | IntronicSNV | - | 14/50 | 1 |
12-40666760-A-T | c.1657-1625A>T | - | IntronicSNV | - | 14/50 | 1 |
12-40666875-C-A | c.1657-1510C>A | - | IntronicSNV | - | 14/50 | 1 |
12-40666875-C-G | c.1657-1510C>G | - | IntronicSNV | - | 14/50 | 1 |
12-40666875-C-T | c.1657-1510C>T | - | IntronicSNV | - | 14/50 | 1 |
12-40668396-T-C | c.1668T>C | p.Asn556Asn | Synonymous | 15/51 | - | 1 |
12-40668402-G-A | c.1674G>A | p.Gly558Gly | Synonymous | 15/51 | - | 1 |
12-40668461-A-T | c.1733A>T | p.Glu578Val | Missense | 15/51 | - | 1 |
12-40668511-A-T | c.1783A>T | p.Met595Leu | Missense | 15/51 | - | 1 |
12-40668701-A-G | c.1847A>G | p.Lys616Arg | Missense | 16/51 | - | 1 |
12-40668752-C-T | c.1898C>T | p.Ser633Phe | Missense | 16/51 | - | 1 |
12-40669939-T-C | c.1941+1144T>C | - | IntronicSNV | - | 16/50 | 1 |
12-40670394-G-A | c.1942-1296G>A | - | IntronicSNV | - | 16/50 | 1 |
12-40670801-C-T | c.1942-889C>T | - | IntronicSNV | - | 16/50 | 1 |
12-40670998-C-A | c.1942-692C>A | - | IntronicSNV | - | 16/50 | 5 |
12-40671735-T-C | c.1987T>C | p.Ser663Pro | Missense | 17/51 | - | 1 |
12-40671747-G-A | c.1999G>A | p.Val667Met | Missense | 17/51 | - | 1 |
12-40671770-A-C | c.2022A>C | p.Val674Val | Synonymous | 17/51 | - | 2 |
12-40671804-C-T | c.2056C>T | p.Gln686* | Nonsense | 17/51 | - | 1 |
12-40671943-C-T | c.2121C>T | p.Tyr707Tyr | Synonymous | 18/51 | - | 1 |
12-40671951-A-AA | c.2129dup | p.Asn710Lysfs*9 | Frameshift | 18/51 | - | 1 |
12-40671956-A-G | c.2134A>G | p.Met712Val | Missense | 18/51 | - | 4 |
12-40671969-C-T | c.2147C>T | p.Ala716Val | Missense | 18/51 | - | 2 |
12-40671989-A-G | c.2167A>G | p.Ile723Val | Missense | 18/51 | - | 8 |
12-40672001-TG-GA | c.2179_2180delinsGA | p.Cys727Asp | Missense | 18/51 | - | 1 |
12-40672004-TTG-GAC | c.2182_2184delinsGAC | p.Leu728Asp | Missense | 18/51 | - | 3 |
12-40672007-CT-GA | c.2185_2186delinsGA | p.Leu729Asp | Missense | 18/51 | - | 2 |
12-40676200-G-T | c.2242-1477G>T | - | IntronicSNV | - | 18/50 | 2 |
12-40677029-A-C | c.2242-648A>C | - | IntronicSNV | - | 18/50 | 3 |
12-40677699-C-T | c.2264C>T | p.Pro755Leu | Missense | 19/51 | - | 9 |
12-40677710-G-T | c.2275G>T | p.Glu759* | Nonsense | 19/51 | - | 1 |
12-40677713-CT-GA | c.2278_2279delinsGA | p.Leu760Asp | Missense | 19/51 | - | 1 |
12-40677716-TTA-GAC | c.2281_2283delinsGAC | p.Leu761Asp | Missense | 19/51 | - | 1 |
12-40677719-CTG-GAC | c.2284_2286delinsGAC | p.Leu762Asp | Missense | 19/51 | - | 1 |
12-40677735-G-A | c.2300G>A | p.Arg767His | Missense | 19/51 | - | 1 |
12-40677749-C-T | c.2314C>T | p.Arg772* | Nonsense | 19/51 | - | 2 |
12-40677800-TTG-GAC | c.2365_2367delinsGAC | p.Leu789Asp | Missense | 19/51 | - | 1 |
12-40677803-CT-GA | c.2368_2369delinsGA | p.Leu790Asp | Missense | 19/51 | - | 1 |
12-40677806-TTA-GAC | c.2371_2373delinsGAC | p.Leu791Asp | Missense | 19/51 | - | 1 |
12-40677813-G-T | c.2378G>T | p.Arg793Met | Missense | 19/51 | - | 19 |
12-40677817-G-A | c.2382G>A | p.Leu794Leu | Synonymous | 19/51 | - | 1 |
12-40677863-A-G | c.2428A>G | p.Ile810Val | Missense | 19/51 | - | 1 |
12-40677916-T-C | c.2481T>C | p.Ser827Ser | Synonymous | 19/51 | - | 1 |
12-40677934-CAA-C | c.2499_2500del | p.Asn834Tyrfs*32 | SpliceDonorDeletion | 19/51 | - | 1 |
12-40677940-AGTAA-A | c.2500+5_2500+8del | - | IntronicDeletion | - | 19/50 | 1 |
12-40680941-A-G | c.2501-212A>G | - | IntronicSNV | - | 19/50 | 1 |
12-40681162-C-T | c.2510C>T | p.Ser837Phe | Missense | 20/51 | - | 1 |
12-40681263-A-G | c.2611A>G | p.Lys871Glu | Missense | 20/51 | - | 2 |
12-40681305-A-T | c.2653A>T | p.Ser885Cys | Missense | 20/51 | - | 1 |
12-40681306-G-A | c.2654G>A | p.Ser885Asn | Missense | 20/51 | - | 1 |
12-40686038-G-T | c.2690-1309G>T | - | IntronicSNV | - | 20/50 | 1 |
12-40687370-AAA-TGG | c.2713_2715delinsTGG | p.Lys905Trp | Missense | 21/51 | - | 1 |
12-40687379-TCT-GAG | c.2722_2724delinsGAG | p.Ser908Glu | Missense | 21/51 | - | 2 |
12-40687379-T-G | c.2722T>G | p.Ser908Ala | Missense | 21/51 | - | 2 |
12-40687385-T-G | c.2728T>G | p.Ser910Ala | Missense | 21/51 | - | 13 |
12-40687409-C-T | c.2752C>T | p.Arg918* | Nonsense | 21/51 | - | 1 |
12-40687426-G-C | c.2769G>C | p.Gln923His | Missense | 21/51 | - | 2 |
12-40687446-A-G | c.2789A>G | p.Gln930Arg | Missense | 21/51 | - | 4 |
12-40687460-TCC-GAG | c.2803_2805delinsGAG | p.Ser935Glu | Missense | 21/51 | - | 2 |
12-40687460-T-G | c.2803T>G | p.Ser935Ala | Missense | 21/51 | - | 12 |
12-40688081-A-G | c.2809-566A>G | - | IntronicSNV | - | 21/50 | 2 |
12-40688668-G-T | c.2830G>T | p.Asp944Tyr | Missense | 22/51 | - | 1 |
12-40688695-T-C | c.2857T>C | p.Leu953Leu | Synonymous | 22/51 | - | 13 |
12-40688697-A-G | c.2859A>G | p.Leu953Leu | Synonymous | 22/51 | - | 6 |
12-40688701-T-G | c.2863T>G | p.Ser955Ala | Missense | 22/51 | - | 2 |
12-40689267-AGC-GAG | c.2917_2919delinsGAG | p.Ser973Glu | Missense | 23/51 | - | 2 |
12-40689267-AG-GC | c.2917_2918delinsGC | p.Ser973Ala | Missense | 23/51 | - | 3 |
12-40689268-G-A | c.2918G>A | p.Ser973Asn | Missense | 23/51 | - | 2 |
12-40689336-G-T | c.2986G>T | p.Asp996Tyr | Missense | 23/51 | - | 1 |
12-40689368-A-G | c.3018A>G | p.Ile1006Met | Missense | 23/51 | - | 1 |
12-40689371-T-C | c.3021T>C | p.Ser1007Ser | Synonymous | 23/51 | - | 1 |
12-40689437-G-T | c.3087G>T | p.Gln1029His | Missense | 23/51 | - | 1 |
12-40689588-C-T | c.3096+142C>T | - | IntronicSNV | - | 23/50 | 1 |
12-40692148-G-A | c.3200G>A | p.Arg1067Gln | Missense | 24/51 | - | 6 |
12-40692235-C-G | c.3287C>G | p.Ser1096Cys | Missense | 24/51 | - | 4 |
12-40692281-G-T | c.3333G>T | p.Gln1111His | Missense | 24/51 | - | 5 |
12-40692290-A-G | c.3342A>G | p.Leu1114Leu | Synonymous | 24/51 | - | 10 |
12-40692927-A-G | c.3364A>G | p.Ile1122Val | Missense | 25/51 | - | 25 |
12-40692953-A-C | c.3390A>C | p.Glu1130Asp | Missense | 25/51 | - | 1 |
12-40692986-T-A | c.3423T>A | p.Ile1141Ile | Synonymous | 25/51 | - | 1 |
12-40692986-T-C | c.3423T>C | p.Ile1141Ile | Synonymous | 25/51 | - | 1 |
12-40693014-G-A | c.3451G>A | p.Ala1151Thr | Missense | 25/51 | - | 3 |
12-40693018-G-T | c.3455G>T | p.Cys1152Phe | Missense | 25/51 | - | 1 |
12-40693057-T-C | c.3494T>C | p.Leu1165Pro | Missense | 25/51 | - | 10 |
12-40693806-G-T | c.3496+747G>T | - | IntronicSNV | - | 25/50 | 1 |
12-40696632-TT-AC | c.3538_3539delinsAC | p.Leu1180Thr | Missense | 26/51 | - | 2 |
12-40696668-A-G | c.3574A>G | p.Ile1192Val | Missense | 26/51 | - | 3 |
12-40697434-G-A | c.3591-316G>A | - | IntronicSNV | - | 26/50 | 2 |
12-40697796-G-A | c.3637G>A | p.Gly1213Ser | Missense | 27/51 | - | 1 |
12-40697802-G-A | c.3643G>A | p.Ala1215Thr | Missense | 27/51 | - | 1 |
12-40697806-A-G | c.3647A>G | p.His1216Arg | Missense | 27/51 | - | 1 |
12-40697842-G-C | c.3683G>C | p.Ser1228Thr | Missense | 27/51 | - | 5 |
12-40697842-G-T | c.3683G>T | p.Ser1228Ile | Missense | 27/51 | - | 1 |
12-40698686-A-G | c.3777+750A>G | - | IntronicSNV | - | 27/50 | 4 |
12-40699593-C-G | c.3784C>G | p.Pro1262Ala | Missense | 28/51 | - | 2 |
12-40699615-A-G | c.3806A>G | p.Asn1269Ser | Missense | 28/51 | - | 1 |
12-40699683-AG-GA | c.3874_3875delinsGA | p.Ser1292Asp | Missense | 28/51 | - | 1 |
12-40699683-AG-GC | c.3874_3875delinsGC | p.Ser1292Ala | Missense | 28/51 | - | 10 |
12-40699692-T-C | c.3883T>C | p.Trp1295Arg | Missense | 28/51 | - | 1 |
12-40699748-T-A | c.3939T>A | p.Cys1313* | Nonsense | 28/51 | - | 2 |
12-40699757-A-C | c.3948A>C | p.Lys1316Asn | Missense | 28/51 | - | 1 |
12-40699757-A-T | c.3948A>T | p.Lys1316Asn | Missense | 28/51 | - | 1 |
12-40702164-C-T | c.3960-105C>T | - | IntronicSNV | - | 28/50 | 1 |
12-40702269-G-C | c.3960G>C | p.Arg1320Ser | Missense | 29/51 | - | 1 |
12-40702269-G-T | c.3960G>T | p.Arg1320Ser | Missense | 29/51 | - | 1 |
12-40702283-G-A | c.3974G>A | p.Arg1325Gln | Missense | 29/51 | - | 2 |
12-40702309-C-T | c.4000C>T | p.Arg1334* | Nonsense | 29/51 | - | 1 |
12-40702315-AAA-TGT | c.4006_4008delinsTGT | p.Lys1336Cys | Missense | 29/51 | - | 1 |
12-40702336-AC-GA | c.4027_4028delinsGA | p.Thr1343Asp | Missense | 29/51 | - | 1 |
12-40702336-AC-GG | c.4027_4028delinsGG | p.Thr1343Gly | Missense | 29/51 | - | 8 |
12-40702336-AC-GT | c.4027_4028inv | p.Thr1343Val | Missense | 29/51 | - | 4 |
12-40702336-A-G | c.4027A>G | p.Thr1343Ala | Missense | 29/51 | - | 2 |
12-40702339-G-A | c.4030G>A | p.Gly1344Arg | Missense | 29/51 | - | 1 |
12-40702348-AA-GC | c.4039_4040delinsGC | p.Lys1347Ala | Missense | 29/51 | - | 44 |
12-40702350-A-C | c.4041A>C | p.Lys1347Asn | Missense | 29/51 | - | 1 |
12-40702350-A-T | c.4041A>T | p.Lys1347Asn | Missense | 29/51 | - | 1 |
12-40702351-AC-GA | c.4042_4043delinsGA | p.Thr1348Asp | Missense | 29/51 | - | 1 |
12-40702351-A-G | c.4042A>G | p.Thr1348Ala | Missense | 29/51 | - | 3 |
12-40702352-C-A | c.4043C>A | p.Thr1348Asn | Missense | 29/51 | - | 40 |
12-40702354-AC-GA | c.4045_4046delinsGA | p.Thr1349Asp | Missense | 29/51 | - | 1 |
12-40702354-A-G | c.4045A>G | p.Thr1349Ala | Missense | 29/51 | - | 1 |
12-40702378-AC-GA | c.4069_4070delinsGA | p.Thr1357Asp | Missense | 29/51 | - | 1 |
12-40702378-A-G | c.4069A>G | p.Thr1357Ala | Missense | 29/51 | - | 2 |
12-40702420-A-G | c.4111A>G | p.Ile1371Val | Missense | 29/51 | - | 31 |
12-40702434-C-A | c.4125C>A | p.Asp1375Glu | Missense | 29/51 | - | 1 |
12-40702474-G-A | c.4165G>A | p.Val1389Ile | Missense | 29/51 | - | 1 |
12-40702911-G-A | c.4193G>A | p.Arg1398His | Missense | 30/51 | - | 50 |
12-40702911-G-T | c.4193G>T | p.Arg1398Leu | Missense | 30/51 | - | 22 |
12-40702911-GT-AA | c.4193_4194delinsAA | p.Arg1398Gln | Missense | 30/51 | - | 9 |
12-40702925-AG-GC | c.4207_4208delinsGC | p.Ser1403Ala | Missense | 30/51 | - | 1 |
12-40702946-ACG-GAC | c.4228_4230delinsGAC | p.Thr1410Asp | Missense | 30/51 | - | 2 |
12-40702946-A-G | c.4228A>G | p.Thr1410Ala | Missense | 30/51 | - | 2 |
12-40702947-C-T | c.4229C>T | p.Thr1410Met | Missense | 30/51 | - | 4 |
12-40702952-C-T | c.4234C>T | p.Arg1412* | Nonsense | 30/51 | - | 1 |
12-40702955-G-A | c.4237G>A | p.Ala1413Thr | Missense | 30/51 | - | 2 |
12-40702974-A-G | c.4256A>G | p.Tyr1419Cys | Missense | 30/51 | - | 1 |
12-40702976-G-A | c.4258G>A | p.Asp1420Asn | Missense | 30/51 | - | 1 |
12-40702987-G-A | c.4269G>A | p.Lys1423Lys | Synonymous | 30/51 | - | 16 |
12-40703008-C-T | c.4290C>T | p.Ala1430Ala | Synonymous | 30/51 | - | 2 |
12-40703027-AA-TT | c.4309_4310inv | p.Asn1437Phe | Missense | 30/51 | - | 1 |
12-40703027-A-C | c.4309A>C | p.Asn1437His | Missense | 30/51 | - | 94 |
12-40703027-A-T | c.4309A>T | p.Asn1437Tyr | Missense | 30/51 | - | 1 |
12-40703028-A-G | c.4310A>G | p.Asn1437Ser | Missense | 30/51 | - | 4 |
12-40703047-CT-C | c.4317+12del | - | IntronicDeletion | - | 30/50 | 1 |
12-40703152-C-A | c.4317+117C>A | - | IntronicSNV | - | 30/50 | 1 |
12-40704236-C-A | c.4321C>A | p.Arg1441Ser | Missense | 31/51 | - | 3 |
12-40704236-C-G | c.4321C>G | p.Arg1441Gly | Missense | 31/51 | - | 365 |
12-40704236-CGC-AAG | c.4321_4323delinsAAG | p.Arg1441Lys | Missense | 31/51 | - | 1 |
12-40704236-CGC-TGA | c.4321_4323delinsTGA | p.Arg1441* | Nonsense | 31/51 | - | 1 |
12-40704236-CG-TA | c.4321_4322delinsTA | p.Arg1441Tyr | Missense | 31/51 | - | 1 |
12-40704236-C-T | c.4321C>T | p.Arg1441Cys | Missense | 31/51 | - | 530 |
12-40704237-G-A | c.4322G>A | p.Arg1441His | Missense | 31/51 | - | 111 |
12-40704238-C-T | c.4323C>T | p.Arg1441Arg | Synonymous | 31/51 | - | 4 |
12-40704239-G-C | c.4324G>C | p.Ala1442Pro | Missense | 31/51 | - | 7 |
12-40704242-T-G | c.4327T>G | p.Ser1443Ala | Missense | 31/51 | - | 1 |
12-40704245-T-G | c.4330T>G | p.Ser1444Ala | Missense | 31/51 | - | 1 |
12-40704252-C-T | c.4337C>T | p.Pro1446Leu | Missense | 31/51 | - | 2 |
12-40704263-G-A | c.4348G>A | p.Val1450Ile | Missense | 31/51 | - | 3 |
12-40704270-C-T | c.4355C>T | p.Thr1452Ile | Missense | 31/51 | - | 1 |
12-40704273-A-G | c.4358A>G | p.His1453Arg | Missense | 31/51 | - | 1 |
12-40704304-A-AA | c.4389dup | p.Ala1464Serfs*5 | Frameshift | 31/51 | - | 1 |
12-40704306-C-G | c.4391C>G | p.Ala1464Gly | Missense | 31/51 | - | 2 |
12-40704317-A-G | c.4402A>G | p.Lys1468Glu | Missense | 31/51 | - | 2 |
12-40704362-C-A | c.4447C>A | p.Arg1483Arg | Synonymous | 31/51 | - | 1 |
12-40704362-C-T | c.4447C>T | p.Arg1483* | Nonsense | 31/51 | - | 3 |
12-40704363-G-A | c.4448G>A | p.Arg1483Gln | Missense | 31/51 | - | 2 |
12-40704383-G-A | c.4468G>A | p.Ala1490Thr | Missense | 31/51 | - | 1 |
12-40704386-AC-GA | c.4471_4472delinsGA | p.Thr1491Asp | Missense | 31/51 | - | 4 |
12-40704386-A-G | c.4471A>G | p.Thr1491Ala | Missense | 31/51 | - | 2 |
12-40704422-AC-GA | c.4507_4508delinsGA | p.Thr1503Asp | Missense | 31/51 | - | 2 |
12-40704422-A-G | c.4507A>G | p.Thr1503Ala | Missense | 31/51 | - | 1 |
12-40704454-A-G | c.4536+3A>G | - | IntronicSNV | - | 31/50 | 1 |
12-40706531-G-A | c.4537-1243G>A | - | IntronicSNV | - | 31/50 | 1 |
12-40707278-C-T | c.4537-496C>T | - | IntronicSNV | - | 31/50 | 2 |
12-40707778-G-A | c.4541G>A | p.Arg1514Gln | Missense | 32/51 | - | 17 |
12-40707861-C-T | c.4624C>T | p.Pro1542Ser | Missense | 32/51 | - | 9 |
12-40707891-C-T | c.4654C>T | p.Arg1552* | Nonsense | 32/51 | - | 1 |
12-40707903-C-A | c.4666C>A | p.Leu1556Ile | Missense | 32/51 | - | 1 |
12-40708892-T-C | c.4739-122T>C | - | IntronicSNV | - | 32/50 | 1 |
12-40709068-T-A | c.4793T>A | p.Val1598Glu | Missense | 33/51 | - | 1 |
12-40709413-T-A | c.4827+311T>A | - | IntronicSNV | - | 33/50 | 1 |
12-40713759-T-C | c.4828-31T>C | - | IntronicSNV | - | 33/50 | 5 |
12-40713800-T-C | c.4838T>C | p.Val1613Ala | Missense | 34/51 | - | 2 |
12-40713834-C-A | c.4872C>A | p.Gly1624Gly | Synonymous | 34/51 | - | 14 |
12-40713834-C-G | c.4872C>G | p.Gly1624Gly | Synonymous | 34/51 | - | 7 |
12-40713834-C-T | c.4872C>T | p.Gly1624Gly | Synonymous | 34/51 | - | 7 |
12-40713841-TCG-GAC | c.4879_4881delinsGAC | p.Ser1627Asp | Missense | 34/51 | - | 1 |
12-40713841-T-G | c.4879T>G | p.Ser1627Ala | Missense | 34/51 | - | 1 |
12-40713842-C-T | c.4880C>T | p.Ser1627Leu | Missense | 34/51 | - | 1 |
12-40713845-G-A | c.4883G>A | p.Arg1628His | Missense | 34/51 | - | 4 |
12-40713845-G-C | c.4883G>C | p.Arg1628Pro | Missense | 34/51 | - | 113 |
12-40713845-G-T | c.4883G>T | p.Arg1628Leu | Missense | 34/51 | - | 3 |
12-40713856-G-C | c.4894G>C | p.Glu1632Gln | Missense | 34/51 | - | 1 |
12-40713873-A-G | c.4911A>G | p.Lys1637Lys | Synonymous | 34/51 | - | 18 |
12-40713899-T-C | c.4937T>C | p.Met1646Thr | Missense | 34/51 | - | 22 |
12-40713901-T-A | c.4939T>A | p.Ser1647Thr | Missense | 34/51 | - | 33 |
12-40713905-A-C | c.4943A>C | p.Gln1648Pro | Missense | 34/51 | - | 1 |
12-40713908-A-C | c.4946A>C | p.Tyr1649Ser | Missense | 34/51 | - | 1 |
12-40713921-A-G | c.4959A>G | p.Leu1653Leu | Synonymous | 34/51 | - | 1 |
12-40714009-A-G | c.5015+32A>G | - | IntronicSNV | - | 34/50 | 4 |
12-40714864-C-A | c.5044C>A | p.Leu1682Ile | Missense | 35/51 | - | 1 |
12-40714885-G-T | c.5065G>T | p.Glu1689* | Nonsense | 35/51 | - | 1 |
12-40714897-C-T | c.5077C>T | p.Arg1693* | Nonsense | 35/51 | - | 1 |
12-40714898-G-A | c.5078G>A | p.Arg1693Gln | Missense | 35/51 | - | 1 |
12-40714915-TA-GG | c.5095_5096delinsGG | p.Tyr1699Gly | Missense | 35/51 | - | 1 |
12-40714916-A-G | c.5096A>G | p.Tyr1699Cys | Missense | 35/51 | - | 302 |
12-40714940-G-A | c.5120G>A | p.Arg1707Lys | Missense | 35/51 | - | 1 |
12-40714983-A-C | c.5163A>C | p.Ser1721Ser | Synonymous | 35/51 | - | 2 |
12-40714983-A-G | c.5163A>G | p.Ser1721Ser | Synonymous | 35/51 | - | 2 |
12-40715013-T-A | c.5170+23T>A | - | IntronicSNV | - | 35/50 | 1 |
12-40715302-G-A | c.5170+312G>A | - | IntronicSNV | - | 35/50 | 2 |
12-40715839-C-A | c.5173C>A | p.Arg1725Arg | Synonymous | 36/51 | - | 1 |
12-40715839-C-G | c.5173C>G | p.Arg1725Gly | Missense | 36/51 | - | 1 |
12-40715839-C-T | c.5173C>T | p.Arg1725* | Nonsense | 36/51 | - | 2 |
12-40715849-G-A | c.5183G>A | p.Arg1728His | Missense | 36/51 | - | 7 |
12-40715849-G-T | c.5183G>T | p.Arg1728Leu | Missense | 36/51 | - | 4 |
12-40715947-A-C | c.5281A>C | p.Ser1761Arg | Missense | 36/51 | - | 3 |
12-40716015-C-A | c.5317+32C>A | - | IntronicSNV | - | 36/50 | 1 |
12-40716015-C-T | c.5317+32C>T | - | IntronicSNV | - | 36/50 | 1 |
12-40716188-G-T | c.5385G>T | p.Leu1795Phe | Missense | 37/51 | - | 8 |
12-40716215-A-AT | c.5412_5413insT | p.Glu1805* | Nonsense | 37/51 | - | 1 |
12-40716220-C-T | c.5417C>T | p.Thr1806Ile | Missense | 37/51 | - | 1 |
12-40716260-T-C | c.5457T>C | p.Gly1819Gly | Synonymous | 37/51 | - | 9 |
12-40716306-G-T | c.5503G>T | p.Glu1835* | Nonsense | 37/51 | - | 1 |
12-40716434-A-G | c.5509+122A>G | - | IntronicSNV | - | 37/50 | 1 |
12-40716474-T-C | c.5509+162T>C | - | IntronicSNV | - | 37/50 | 1 |
12-40716694-A-C | c.5510-268A>C | - | IntronicSNV | - | 37/50 | 1 |
12-40716694-A-G | c.5510-268A>G | - | IntronicSNV | - | 37/50 | 1 |
12-40717057-A-G | c.5605A>G | p.Met1869Val | Missense | 38/51 | - | 1 |
12-40717057-AT-CA | c.5605_5606delinsCA | p.Met1869Gln | Missense | 38/51 | - | 1 |
12-40717058-T-C | c.5606T>C | p.Met1869Thr | Missense | 38/51 | - | 7 |
12-40717062-G-C | c.5610G>C | p.Leu1870Phe | Missense | 38/51 | - | 2 |
12-40717062-G-T | c.5610G>T | p.Leu1870Phe | Missense | 38/51 | - | 2 |
12-40717115-C-T | c.5656+7C>T | - | IntronicSNV | - | 38/50 | 1 |
12-40717143-G-A | c.5656+35G>A | - | IntronicSNV | - | 38/50 | 1 |
12-40719500-A-C | c.5656+2392A>C | - | IntronicSNV | - | 38/50 | 2 |
12-40719500-A-G | c.5656+2392A>G | - | IntronicSNV | - | 38/50 | 2 |
12-40719500-A-T | c.5656+2392A>T | - | IntronicSNV | - | 38/50 | 2 |
12-40722164-G-A | c.5659G>A | p.Asp1887Asn | Missense | 39/51 | - | 1 |
12-40722182-G-T | c.5677G>T | p.Val1893Phe | Missense | 39/51 | - | 1 |
12-40722188-C-T | c.5683C>T | p.Arg1895* | Nonsense | 39/51 | - | 2 |
12-40722192-C-G | c.5687C>G | p.Ala1896Gly | Missense | 39/51 | - | 1 |
12-40722215-GC-TT | c.5710_5711delinsTT | p.Ala1904Phe | Missense | 39/51 | - | 1 |
12-40722221-AA-GC | c.5716_5717delinsGC | p.Lys1906Ala | Missense | 39/51 | - | 6 |
12-40722222-A-G | c.5717A>G | p.Lys1906Arg | Missense | 39/51 | - | 3 |
12-40722222-A-T | c.5717A>T | p.Lys1906Met | Missense | 39/51 | - | 55 |
12-40722223-G-C | c.5718G>C | p.Lys1906Asn | Missense | 39/51 | - | 1 |
12-40722223-G-T | c.5718G>T | p.Lys1906Asn | Missense | 39/51 | - | 1 |
12-40722227-T-C | c.5722T>C | p.Phe1908Leu | Missense | 39/51 | - | 1 |
12-40722229-T-A | c.5724T>A | p.Phe1908Leu | Missense | 39/51 | - | 1 |
12-40722229-T-G | c.5724T>G | p.Phe1908Leu | Missense | 39/51 | - | 1 |
12-40722257-AG-GC | c.5752_5753delinsGC | p.Arg1918Ala | Missense | 39/51 | - | 1 |
12-40722260-CA-GC | c.5755_5756delinsGC | p.Gln1919Ala | Missense | 39/51 | - | 1 |
12-40723171-C-A | c.5757+909C>A | - | IntronicSNV | - | 39/50 | 1 |
12-40723171-C-T | c.5757+909C>T | - | IntronicSNV | - | 39/50 | 1 |
12-40723900-C-A | c.5757+1638C>A | - | IntronicSNV | - | 39/50 | 2 |
12-40723900-C-T | c.5757+1638C>T | - | IntronicSNV | - | 39/50 | 2 |
12-40724030-C-T | c.5757+1768C>T | - | IntronicSNV | - | 39/50 | 1 |
12-40724581-G-A | c.5757+2319G>A | - | IntronicSNV | - | 39/50 | 1 |
12-40724960-G-A | c.5757+2698G>A | - | IntronicSNV | - | 39/50 | 3 |
12-40724960-G-T | c.5757+2698G>T | - | IntronicSNV | - | 39/50 | 3 |
12-40725928-A-G | c.5758-2841A>G | - | IntronicSNV | - | 39/50 | 2 |
12-40726567-C-G | c.5758-2202C>G | - | IntronicSNV | - | 39/50 | 1 |
12-40727779-T-G | c.5758-990T>G | - | IntronicSNV | - | 39/50 | 1 |
12-40728781-C-T | c.5770C>T | p.Leu1924Phe | Missense | 40/51 | - | 1 |
12-40728816-G-C | c.5805G>C | p.Leu1935Phe | Missense | 40/51 | - | 1 |
12-40728816-G-T | c.5805G>T | p.Leu1935Phe | Missense | 40/51 | - | 1 |
12-40728833-G-A | c.5822G>A | p.Arg1941His | Missense | 40/51 | - | 7 |
12-40728868-G-C | c.5857G>C | p.Gly1953Arg | Missense | 40/51 | - | 1 |
12-40728880-C-T | c.5869C>T | p.Arg1957Cys | Missense | 40/51 | - | 1 |
12-40728881-G-T | c.5870G>T | p.Arg1957Leu | Missense | 40/51 | - | 1 |
12-40728902-C-T | c.5891C>T | p.Ala1964Val | Missense | 40/51 | - | 1 |
12-40729007-C-T | c.5948+48C>T | - | IntronicSNV | - | 40/50 | 2 |
12-40730463-C-G | c.5948+1504C>G | - | IntronicSNV | - | 40/50 | 3 |
12-40730463-C-T | c.5948+1504C>T | - | IntronicSNV | - | 40/50 | 3 |
12-40731606-G-A | c.5949-2490G>A | - | IntronicSNV | - | 40/50 | 1 |
12-40732394-T-C | c.5949-1702T>C | - | IntronicSNV | - | 40/50 | 3 |
12-40732730-C-G | c.5949-1366C>G | - | IntronicSNV | - | 40/50 | 1 |
12-40732900-C-A | c.5949-1196C>A | - | IntronicSNV | - | 40/50 | 3 |
12-40734122-A-T | c.5975A>T | p.Tyr1992Phe | Missense | 41/51 | - | 1 |
12-40734124-C-T | c.5977C>T | p.Arg1993* | Nonsense | 41/51 | - | 2 |
12-40734127-G-A | c.5980G>A | p.Asp1994Asn | Missense | 41/51 | - | 10 |
12-40734127-GA-AG | c.5980_5981delinsAG | p.Asp1994Ser | Missense | 41/51 | - | 11 |
12-40734127-GAC-AAG | c.5980_5982delinsAAG | p.Asp1994Lys | Missense | 41/51 | - | 1 |
12-40734128-A-C | c.5981A>C | p.Asp1994Ala | Missense | 41/51 | - | 67 |
12-40734163-T-C | c.6016T>C | p.Tyr2006His | Missense | 41/51 | - | 2 |
12-40734168-C-A | c.6021C>A | p.Pro2007Pro | Synonymous | 41/51 | - | 1 |
12-40734168-C-G | c.6021C>G | p.Pro2007Pro | Synonymous | 41/51 | - | 1 |
12-40734168-C-T | c.6021C>T | p.Pro2007Pro | Synonymous | 41/51 | - | 1 |
12-40734181-AT-GC | c.6034_6035delinsGC | p.Ile2012Ala | Missense | 41/51 | - | 1 |
12-40734182-T-C | c.6035T>C | p.Ile2012Thr | Missense | 41/51 | - | 37 |
12-40734193-G-A | c.6046G>A | p.Ala2016Thr | Missense | 41/51 | - | 38 |
12-40734197-A-C | c.6050A>C | p.Asp2017Ala | Missense | 41/51 | - | 26 |
12-40734200-A-T | c.6053A>T | p.Tyr2018Phe | Missense | 41/51 | - | 2 |
12-40734201-C-T | c.6054C>T | p.Tyr2018Tyr | Synonymous | 41/51 | - | 1 |
12-40734202-G-A | c.6055G>A | p.Gly2019Ser | Missense | 41/51 | - | 1460 |
12-40734202-GGC-AAG | c.6055_6057delinsAAG | p.Gly2019Lys | Missense | 41/51 | - | 1 |
12-40734203-G-A | c.6056G>A | p.Gly2019Asp | Missense | 41/51 | - | 1 |
12-40734203-G-C | c.6056G>C | p.Gly2019Ala | Missense | 41/51 | - | 2 |
12-40734204-C-A | c.6057C>A | p.Gly2019Gly | Synonymous | 41/51 | - | 1 |
12-40734204-C-G | c.6057C>G | p.Gly2019Gly | Synonymous | 41/51 | - | 1 |
12-40734204-C-T | c.6057C>T | p.Gly2019Gly | Synonymous | 41/51 | - | 1 |
12-40734205-A-C | c.6058A>C | p.Ile2020Leu | Missense | 41/51 | - | 2 |
12-40734206-T-C | c.6059T>C | p.Ile2020Thr | Missense | 41/51 | - | 306 |
12-40734238-ACA-GAC | c.6091_6093delinsGAC | p.Thr2031Asp | Missense | 41/51 | - | 1 |
12-40734238-AC-GA | c.6091_6092delinsGA | p.Thr2031Glu | Missense | 41/51 | - | 1 |
12-40734238-A-G | c.6091A>G | p.Thr2031Ala | Missense | 41/51 | - | 3 |
12-40734238-A-T | c.6091A>T | p.Thr2031Ser | Missense | 41/51 | - | 12 |
12-40734241-TCA-GAC | c.6094_6096delinsGAC | p.Ser2032Asp | Missense | 41/51 | - | 2 |
12-40734241-TC-GA | c.6094_6095inv | p.Ser2032Glu | Missense | 41/51 | - | 3 |
12-40734241-T-G | c.6094T>G | p.Ser2032Ala | Missense | 41/51 | - | 5 |
12-40734250-ACA-GAC | c.6103_6105delinsGAC | p.Thr2035Asp | Missense | 41/51 | - | 1 |
12-40734250-AC-GA | c.6103_6104delinsGA | p.Thr2035Glu | Missense | 41/51 | - | 2 |
12-40734250-A-G | c.6103A>G | p.Thr2035Ala | Missense | 41/51 | - | 7 |
12-40734583-T-C | c.6109+327T>C | - | IntronicSNV | - | 41/50 | 1 |
12-40735939-G-A | c.6109+1683G>A | - | IntronicSNV | - | 41/50 | 1 |
12-40739493-G-A | c.6110-1062G>A | - | IntronicSNV | - | 41/50 | 1 |
12-40739493-G-T | c.6110-1062G>T | - | IntronicSNV | - | 41/50 | 1 |
12-40740365-G-T | c.6110-190G>T | - | IntronicSNV | - | 41/50 | 1 |
12-40740632-ACTCTA-A | c.6187_6191del | p.Leu2063* | Frameshift | 42/51 | - | 1 |
12-40740632-CTC-TAA | c.6187_6189delinsTAA | p.Leu2063* | Nonsense | 42/51 | - | 2 |
12-40740686-A-G | c.6241A>G | p.Asn2081Asp | Missense | 42/51 | - | 26 |
12-40740686-A-T | c.6241A>T | p.Asn2081Tyr | Missense | 42/51 | - | 3 |
12-40742254-G-A | c.6324G>A | p.Glu2108Glu | Synonymous | 43/51 | - | 12 |
12-40742286-C-T | c.6356C>T | p.Pro2119Leu | Missense | 43/51 | - | 1 |
12-40742363-G-A | c.6381+52G>A | - | IntronicSNV | - | 43/50 | 3 |
12-40742363-G-C | c.6381+52G>C | - | IntronicSNV | - | 43/50 | 3 |
12-40744086-A-T | c.6382-1255A>T | - | IntronicSNV | - | 43/50 | 1 |
12-40744775-A-C | c.6382-566A>C | - | IntronicSNV | - | 43/50 | 2 |
12-40744808-G-A | c.6382-533G>A | - | IntronicSNV | - | 43/50 | 1 |
12-40745181-T-C | c.6382-160T>C | - | IntronicSNV | - | 43/50 | 2 |
12-40745381-C-T | c.6422C>T | p.Thr2141Met | Missense | 44/51 | - | 3 |
12-40745387-G-A | c.6428G>A | p.Arg2143His | Missense | 44/51 | - | 3 |
12-40745407-G-A | c.6448G>A | p.Val2150Ile | Missense | 44/51 | - | 1 |
12-40745469-C-A | c.6510C>A | p.Gly2170Gly | Synonymous | 44/51 | - | 1 |
12-40745482-G-C | c.6523G>C | p.Asp2175His | Missense | 44/51 | - | 1 |
12-40745525-A-G | c.6566A>G | p.Tyr2189Cys | Missense | 44/51 | - | 5 |
12-40746849-C-A | c.6577-1252C>A | - | IntronicSNV | - | 44/50 | 1 |
12-40746849-C-G | c.6577-1252C>G | - | IntronicSNV | - | 44/50 | 1 |
12-40746849-C-T | c.6577-1252C>T | - | IntronicSNV | - | 44/50 | 1 |
12-40747059-C-T | c.6577-1042C>T | - | IntronicSNV | - | 44/50 | 1 |
12-40748190-T-A | c.6666T>A | p.Gly2222Gly | Synonymous | 45/51 | - | 1 |
12-40748395-G-A | c.6770+101G>A | - | IntronicSNV | - | 45/50 | 1 |
12-40748395-G-T | c.6770+101G>T | - | IntronicSNV | - | 45/50 | 1 |
12-40749928-A-T | c.6782A>T | p.Asn2261Ile | Missense | 46/51 | - | 1 |
12-40750471-G-A | c.6843+482G>A | - | IntronicSNV | - | 46/50 | 2 |
12-40753140-A-G | c.6922A>G | p.Asn2308Asp | Missense | 47/51 | - | 1 |
12-40753147-C-T | c.6929C>T | p.Thr2310Met | Missense | 47/51 | - | 1 |
12-40753156-A-G | c.6938A>G | p.Asn2313Ser | Missense | 47/51 | - | 1 |
12-40756207-T-C | c.7029-997T>C | - | IntronicSNV | - | 47/50 | 1 |
12-40756472-C-A | c.7029-732C>A | - | IntronicSNV | - | 47/50 | 3 |
12-40756472-C-T | c.7029-732C>T | - | IntronicSNV | - | 47/50 | 3 |
12-40757205-TT-GC | c.7030_7031delinsGC | p.Phe2344Ala | Missense | 48/51 | - | 1 |
12-40757208-TC-GA | c.7033_7034inv | p.Ser2345Asp | Missense | 48/51 | - | 1 |
12-40757211-TA-GC | c.7036_7037delinsGC | p.Tyr2346Ala | Missense | 48/51 | - | 1 |
12-40757224-G-T | c.7049G>T | p.Ser2350Ile | Missense | 48/51 | - | 1 |
12-40757241-A-AGT | c.7066_7067insGT | p.Thr2356Serfs*5 | Frameshift | 48/51 | - | 1 |
12-40757241-AC-CT | c.7066_7067delinsCT | p.Thr2356Leu | Missense | 48/51 | - | 1 |
12-40757242-C-T | c.7067C>T | p.Thr2356Ile | Missense | 48/51 | - | 7 |
12-40757328-G-A | c.7153G>A | p.Gly2385Arg | Missense | 48/51 | - | 207 |
12-40757329-G-A | c.7154G>A | p.Gly2385Glu | Missense | 48/51 | - | 2 |
12-40757329-G-C | c.7154G>C | p.Gly2385Ala | Missense | 48/51 | - | 1 |
12-40757330-A-G | c.7155A>G | p.Gly2385Gly | Synonymous | 48/51 | - | 8 |
12-40757337-GAC-AAG | c.7162_7164delinsAAG | p.Asp2388Lys | Missense | 48/51 | - | 1 |
12-40757343-G-A | c.7168G>A | p.Val2390Met | Missense | 48/51 | - | 6 |
12-40757346-C-G | c.7171C>G | p.His2391Asp | Missense | 48/51 | - | 1 |
12-40757355-AG-GA | c.7180_7181delinsGA | p.Arg2394Glu | Missense | 48/51 | - | 1 |
12-40758045-T-C | c.7182-599T>C | - | IntronicSNV | - | 48/50 | 2 |
12-40758045-T-G | c.7182-599T>G | - | IntronicSNV | - | 48/50 | 2 |
12-40758291-G-A | c.7182-353G>A | - | IntronicSNV | - | 48/50 | 1 |
12-40758645-G-A | c.7183G>A | p.Glu2395Lys | Missense | 49/51 | - | 2 |
12-40758645-GA-AG | c.7183_7184delinsAG | p.Glu2395Arg | Missense | 49/51 | - | 1 |
12-40758652-T-C | c.7190T>C | p.Met2397Thr | Missense | 49/51 | - | 33 |
12-40758669-G-T | c.7207G>T | p.Glu2403* | Nonsense | 49/51 | - | 1 |
12-40758684-AT-GA | c.7222_7223delinsGA | p.Met2408Glu | Missense | 49/51 | - | 1 |
12-40758684-AT-GC | c.7222_7223delinsGC | p.Met2408Ala | Missense | 49/51 | - | 1 |
12-40758686-G-A | c.7224G>A | p.Met2408Ile | Missense | 49/51 | - | 1 |
12-40758687-T-G | c.7225T>G | p.Ser2409Ala | Missense | 49/51 | - | 1 |
12-40758758-C-A | c.7296C>A | p.Gly2432Gly | Synonymous | 49/51 | - | 1 |
12-40758758-C-G | c.7296C>G | p.Gly2432Gly | Synonymous | 49/51 | - | 1 |
12-40758758-C-T | c.7296C>T | p.Gly2432Gly | Synonymous | 49/51 | - | 1 |
12-40758777-C-A | c.7315C>A | p.Leu2439Ile | Missense | 49/51 | - | 1 |
12-40758823-C-A | c.7361C>A | p.Ser2454* | Nonsense | 49/51 | - | 1 |
12-40758823-C-T | c.7361C>T | p.Ser2454Leu | Missense | 49/51 | - | 1 |
12-40758844-C-T | c.7382C>T | p.Ala2461Val | Missense | 49/51 | - | 1 |
12-40759848-T-A | c.7391-960T>A | - | IntronicSNV | - | 49/50 | 1 |
12-40760631-A-G | c.7391-177A>G | - | IntronicSNV | - | 49/50 | 1 |
12-40760764-T-C | c.7391-44T>C | - | IntronicSNV | - | 49/50 | 1 |
12-40760814-T-A | c.7397T>A | p.Leu2466His | Missense | 50/51 | - | 3 |
12-40760852-A-G | c.7435A>G | p.Asn2479Asp | Missense | 50/51 | - | 1 |
12-40761315-A-T | c.7463-131A>T | - | IntronicSNV | - | 50/50 | 1 |
12-40761358-A-G | c.7463-88A>G | - | IntronicSNV | - | 50/50 | 1 |
12-40761358-A-T | c.7463-88A>T | - | IntronicSNV | - | 50/50 | 1 |
12-40761550-C-T | c.7567C>T | p.Arg2523* | Nonsense | 51/51 | - | 1 |
12-40761553-ACA-TGT | c.7570_7572inv | p.Thr2524Cys | Missense | 51/51 | - | 1 |
12-40761951-C-T | c.*384C>T | - | 3-UTRSNV | 51/51 | - | 1 |