Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101362619A>C | CA374254298 | BAAT | c.1066T>G (p.Ser356Ala) c.762+304T>G (n.762+304T>G) c.804+262T>G (n.804+262T>G) | |
9 | g.101362619A>G | CA374254299 | BAAT | c.1066T>C (p.Ser356Pro) c.762+304T>C (n.762+304T>C) c.804+262T>C (n.804+262T>C) | |
9 | g.101362619A>T | CA374254300 | BAAT | c.1066T>A (p.Ser356Thr) c.762+304T>A (n.762+304T>A) c.804+262T>A (n.804+262T>A) | |
9 | g.101362620T>A | CA466650515 | BAAT | c.1065A>T (p.Leu355=) c.762+303A>T (n.762+303A>T) c.804+261A>T (n.804+261A>T) | |
9 | g.101362620T>C | CA5160575 | BAAT | c.1065A>G (p.Leu355=) c.762+303A>G (n.762+303A>G) c.804+261A>G (n.804+261A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362620T>G | CA466650517 | BAAT | c.1065A>C (p.Leu355=) c.762+303A>C (n.762+303A>C) c.804+261A>C (n.804+261A>C) | gnomAD v4 |
9 | g.101362620T= | CA1868206329 | BAAT | c.1065A= (p.Leu355=) c.762+303A= (n.762+303A=) c.804+261A= (n.804+261A=) | |
9 | g.101362621A= | CA1868206334 | BAAT | c.1064T= (p.Leu355=) c.762+302T= (n.762+302T=) c.804+260T= (n.804+260T=) | |
9 | g.101362621A>C | CA374254301 | BAAT | c.1064T>G (p.Leu355Arg) c.762+302T>G (n.762+302T>G) c.804+260T>G (n.804+260T>G) | |
9 | g.101362621A>G | CA374254302 | BAAT | c.1064T>C (p.Leu355Pro) c.762+302T>C (n.762+302T>C) c.804+260T>C (n.804+260T>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362621A>T | CA374254303 | BAAT | c.1064T>A (p.Leu355Gln) c.762+302T>A (n.762+302T>A) c.804+260T>A (n.804+260T>A) | |
9 | g.101362622G>A | CA466650518 | BAAT | c.1063C>T (p.Leu355=) c.762+301C>T (n.762+301C>T) c.804+259C>T (n.804+259C>T) | |
9 | g.101362622G>C | CA374254304 | BAAT | c.1063C>G (p.Leu355Val) c.762+301C>G (n.762+301C>G) c.804+259C>G (n.804+259C>G) | gnomAD v4 |
9 | g.101362622G= | CA1868206336 | BAAT | c.1063C= (p.Leu355=) c.762+301C= (n.762+301C=) c.804+259C= (n.804+259C=) | |
9 | g.101362622G>T | CA5160576 | BAAT | c.1063C>A (p.Leu355Ile) c.762+301C>A (n.762+301C>A) c.804+259C>A (n.804+259C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362623C>A | CA466650520 | BAAT | c.1062G>T (p.Leu354=) c.762+300G>T (n.762+300G>T) c.804+258G>T (n.804+258G>T) | |
9 | g.101362623C>G | CA466650521 | BAAT | c.1062G>C (p.Leu354=) c.762+300G>C (n.762+300G>C) c.804+258G>C (n.804+258G>C) | |
9 | g.101362623C>T | CA466650522 | BAAT | c.1062G>A (p.Leu354=) c.762+300G>A (n.762+300G>A) c.804+258G>A (n.804+258G>A) | |
9 | g.101362624A>C | CA374254306 | BAAT | c.1061T>G (p.Leu354Arg) c.762+299T>G (n.762+299T>G) c.804+257T>G (n.804+257T>G) | gnomAD v4 |
9 | g.101362624A>G | CA374254307 | BAAT | c.1061T>C (p.Leu354Pro) c.762+299T>C (n.762+299T>C) c.804+257T>C (n.804+257T>C) | |
9 | g.101362624A>T | CA374254305 | BAAT | c.1061T>A (p.Leu354Gln) c.762+299T>A (n.762+299T>A) c.804+257T>A (n.804+257T>A) | |
9 | g.101362625G>A | CA466650523 | BAAT | c.1060C>T (p.Leu354=) c.762+298C>T (n.762+298C>T) c.804+256C>T (n.804+256C>T) | |
9 | g.101362625G>C | CA374254308 | BAAT | c.1060C>G (p.Leu354Val) c.762+298C>G (n.762+298C>G) c.804+256C>G (n.804+256C>G) | |
9 | g.101362625G>T | CA374254309 | BAAT | c.1060C>A (p.Leu354Met) c.762+298C>A (n.762+298C>A) c.804+256C>A (n.804+256C>A) | |
9 | g.101362626G>A | CA466650526 | BAAT | c.1059C>T (p.Thr353=) c.762+297C>T (n.762+297C>T) c.804+255C>T (n.804+255C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362626G>C | CA466650528 | BAAT | c.1059C>G (p.Thr353=) c.762+297C>G (n.762+297C>G) c.804+255C>G (n.804+255C>G) | |
9 | g.101362626G= | CA1868206338 | BAAT | c.1059C= (p.Thr353=) c.762+297C= (n.762+297C=) c.804+255C= (n.804+255C=) | |
9 | g.101362626G>T | CA466650529 | BAAT | c.1059C>A (p.Thr353=) c.762+297C>A (n.762+297C>A) c.804+255C>A (n.804+255C>A) | |
9 | g.101362627G>A | CA374254310 | BAAT | c.1058C>T (p.Thr353Ile) c.762+296C>T (n.762+296C>T) c.804+254C>T (n.804+254C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362627G>C | CA374254311 | BAAT | c.1058C>G (p.Thr353Ser) c.762+296C>G (n.762+296C>G) c.804+254C>G (n.804+254C>G) | |
9 | g.101362627G= | CA1868206341 | BAAT | c.1058C= (p.Thr353=) c.762+296C= (n.762+296C=) c.804+254C= (n.804+254C=) | |
9 | g.101362627G>T | CA374254312 | BAAT | c.1058C>A (p.Thr353Asn) c.762+296C>A (n.762+296C>A) c.804+254C>A (n.804+254C>A) | |
9 | g.101362628T>A | CA374254313 | BAAT | c.1057A>T (p.Thr353Ser) c.762+295A>T (n.762+295A>T) c.804+253A>T (n.804+253A>T) | |
9 | g.101362628T>C | CA374254314 | BAAT | c.1057A>G (p.Thr353Ala) c.762+295A>G (n.762+295A>G) c.804+253A>G (n.804+253A>G) | COSMIC |
9 | g.101362628T>G | CA374254315 | BAAT | c.1057A>C (p.Thr353Pro) c.762+295A>C (n.762+295A>C) c.804+253A>C (n.804+253A>C) | |
9 | g.101362629C>A | CA374254316 | BAAT | c.1056G>T (p.Trp352Cys) c.762+294G>T (n.762+294G>T) c.804+252G>T (n.804+252G>T) | |
9 | g.101362629C= | CA1868206351 | BAAT | c.1056G= (p.Trp352=) c.762+294G= (n.762+294G=) c.804+252G= (n.804+252G=) | |
9 | g.101362629C>G | CA374254317 | BAAT | c.1056G>C (p.Trp352Cys) c.762+294G>C (n.762+294G>C) c.804+252G>C (n.804+252G>C) | |
9 | g.101362629C>T | CA5160577 | BAAT | c.1056G>A (p.Trp352Ter) c.762+294G>A (n.762+294G>A) c.804+252G>A (n.804+252G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362630C>A | CA374254319 | BAAT | c.1055G>T (p.Trp352Leu) c.762+293G>T (n.762+293G>T) c.804+251G>T (n.804+251G>T) | |
9 | g.101362630C= | CA1868206354 | BAAT | c.1055G= (p.Trp352=) c.762+293G= (n.762+293G=) c.804+251G= (n.804+251G=) | |
9 | g.101362630C>G | CA5160578 | BAAT | c.1055G>C (p.Trp352Ser) c.762+293G>C (n.762+293G>C) c.804+251G>C (n.804+251G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362630C>T | CA374254318 | BAAT | c.1055G>A (p.Trp352Ter) c.762+293G>A (n.762+293G>A) c.804+251G>A (n.804+251G>A) | |
9 | g.101362631A= | CA1868206358 | BAAT | c.1054T= (p.Trp352=) c.762+292T= (n.762+292T=) c.804+250T= (n.804+250T=) | |
9 | g.101362631A>C | CA374254320 | BAAT | c.1054T>G (p.Trp352Gly) c.762+292T>G (n.762+292T>G) c.804+250T>G (n.804+250T>G) | |
9 | g.101362631A>G | CA374254321 | BAAT | c.1054T>C (p.Trp352Arg) c.762+292T>C (n.762+292T>C) c.804+250T>C (n.804+250T>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362631A>T | CA374254322 | BAAT | c.1054T>A (p.Trp352Arg) c.762+292T>A (n.762+292T>A) c.804+250T>A (n.804+250T>A) | |
9 | g.101362632G>A | CA466650535 | BAAT | c.1053C>T (p.Asn351=) c.762+291C>T (n.762+291C>T) c.804+249C>T (n.804+249C>T) | |
9 | g.101362632G>C | CA374254323 | BAAT | c.1053C>G (p.Asn351Lys) c.762+291C>G (n.762+291C>G) c.804+249C>G (n.804+249C>G) | |
9 | g.101362632G>T | CA374254324 | BAAT | c.1053C>A (p.Asn351Lys) c.762+291C>A (n.762+291C>A) c.804+249C>A (n.804+249C>A) | |
9 | g.101362633T>A | CA374254325 | BAAT | c.1052A>T (p.Asn351Ile) c.762+290A>T (n.762+290A>T) c.804+248A>T (n.804+248A>T) | |
9 | g.101362633T>C | CA374254326 | BAAT | c.1052A>G (p.Asn351Ser) c.762+290A>G (n.762+290A>G) c.804+248A>G (n.804+248A>G) | |
9 | g.101362633T>G | CA374254327 | BAAT | c.1052A>C (p.Asn351Thr) c.762+290A>C (n.762+290A>C) c.804+248A>C (n.804+248A>C) | |
9 | g.101362634T>A | CA374254328 | BAAT | c.1051A>T (p.Asn351Tyr) c.762+289A>T (n.762+289A>T) c.804+247A>T (n.804+247A>T) | |
9 | g.101362634T>C | CA374254329 | BAAT | c.1051A>G (p.Asn351Asp) c.762+289A>G (n.762+289A>G) c.804+247A>G (n.804+247A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362634T>G | CA374254330 | BAAT | c.1051A>C (p.Asn351His) c.762+289A>C (n.762+289A>C) c.804+247A>C (n.804+247A>C) | |
9 | g.101362634T= | CA1868206361 | BAAT | c.1051A= (p.Asn351=) c.762+289A= (n.762+289A=) c.804+247A= (n.804+247A=) | |
9 | g.101362634_101362635delinsTG | CA1868206363 | BAAT | c.1050_1051delinsCA (p.Asn350=) c.762+288_762+289delinsCA (n.762+288_762+289delinsCA) c.804+246_804+247delinsCA (n.804+246_804+247delinsCA) | |
9 | g.101362635del | CA590045398 | BAAT | c.1050del (p.Asn350LysfsTer14) c.762+288del (n.762+288del) c.804+246del (n.804+246del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362635G>A | CA466650539 | BAAT | c.1050C>T (p.Asn350=) c.762+288C>T (n.762+288C>T) c.804+246C>T (n.804+246C>T) | |
9 | g.101362635G>C | CA374254331 | BAAT | c.1050C>G (p.Asn350Lys) c.762+288C>G (n.762+288C>G) c.804+246C>G (n.804+246C>G) | |
9 | g.101362635G>T | CA374254332 | BAAT | c.1050C>A (p.Asn350Lys) c.762+288C>A (n.762+288C>A) c.804+246C>A (n.804+246C>A) | gnomAD v4 |
9 | g.101362636T>A | CA374254334 | BAAT | c.1049A>T (p.Asn350Ile) c.762+287A>T (n.762+287A>T) c.804+245A>T (n.804+245A>T) | |
9 | g.101362636T>C | CA374254335 | BAAT | c.1049A>G (p.Asn350Ser) c.762+287A>G (n.762+287A>G) c.804+245A>G (n.804+245A>G) | |
9 | g.101362636T>G | CA374254333 | BAAT | c.1049A>C (p.Asn350Thr) c.762+287A>C (n.762+287A>C) c.804+245A>C (n.804+245A>C) | |
9 | g.101362637T>A | CA374254338 | BAAT | c.1048A>T (p.Asn350Tyr) c.762+286A>T (n.762+286A>T) c.804+244A>T (n.804+244A>T) | |
9 | g.101362637T>C | CA374254336 | BAAT | c.1048A>G (p.Asn350Asp) c.762+286A>G (n.762+286A>G) c.804+244A>G (n.804+244A>G) | gnomAD v4 |
9 | g.101362637T>G | CA374254337 | BAAT | c.1048A>C (p.Asn350His) c.762+286A>C (n.762+286A>C) c.804+244A>C (n.804+244A>C) | |
9 | g.101362638C>A | CA374254339 | BAAT | c.1047G>T (p.Lys349Asn) c.762+285G>T (n.762+285G>T) c.804+243G>T (n.804+243G>T) | |
9 | g.101362638C>G | CA374254340 | BAAT | c.1047G>C (p.Lys349Asn) c.762+285G>C (n.762+285G>C) c.804+243G>C (n.804+243G>C) | |
9 | g.101362638C>T | CA466650540 | BAAT | c.1047G>A (p.Lys349=) c.762+285G>A (n.762+285G>A) c.804+243G>A (n.804+243G>A) | |
9 | g.101362639T>A | CA374254341 | BAAT | c.1046A>T (p.Lys349Met) c.762+284A>T (n.762+284A>T) c.804+242A>T (n.804+242A>T) | |
9 | g.101362639T>C | CA374254342 | BAAT | c.1046A>G (p.Lys349Arg) c.762+284A>G (n.762+284A>G) c.804+242A>G (n.804+242A>G) | |
9 | g.101362639T>G | CA374254343 | BAAT | c.1046A>C (p.Lys349Thr) c.762+284A>C (n.762+284A>C) c.804+242A>C (n.804+242A>C) | |
9 | g.101362640T>A | CA374254344 | BAAT | c.1045A>T (p.Lys349Ter) c.762+283A>T (n.762+283A>T) c.804+241A>T (n.804+241A>T) | |
9 | g.101362640T>C | CA374254345 | BAAT | c.1045A>G (p.Lys349Glu) c.762+283A>G (n.762+283A>G) c.804+241A>G (n.804+241A>G) | |
9 | g.101362640T>G | CA374254346 | BAAT | c.1045A>C (p.Lys349Gln) c.762+283A>C (n.762+283A>C) c.804+241A>C (n.804+241A>C) | |
9 | g.101362641C>A | CA466650545 | BAAT | c.1044G>T (p.Gly348=) c.762+282G>T (n.762+282G>T) c.804+240G>T (n.804+240G>T) | |
9 | g.101362641C>G | CA466650546 | BAAT | c.1044G>C (p.Gly348=) c.762+282G>C (n.762+282G>C) c.804+240G>C (n.804+240G>C) | |
9 | g.101362641C>T | CA466650547 | BAAT | c.1044G>A (p.Gly348=) c.762+282G>A (n.762+282G>A) c.804+240G>A (n.804+240G>A) | |
9 | g.101362642C>A | CA374254347 | BAAT | c.1043G>T (p.Gly348Val) c.762+281G>T (n.762+281G>T) c.804+239G>T (n.804+239G>T) | |
9 | g.101362642C= | CA1868206367 | BAAT | c.1043G= (p.Gly348=) c.762+281G= (n.762+281G=) c.804+239G= (n.804+239G=) | |
9 | g.101362642C>G | CA374254348 | BAAT | c.1043G>C (p.Gly348Ala) c.762+281G>C (n.762+281G>C) c.804+239G>C (n.804+239G>C) | |
9 | g.101362642C>T | CA374254349 | BAAT | c.1043G>A (p.Gly348Glu) c.762+281G>A (n.762+281G>A) c.804+239G>A (n.804+239G>A) | dbSNP gnomAD v4 |
9 | g.101362643C>A | CA374254350 | BAAT | c.1042G>T (p.Gly348Trp) c.762+280G>T (n.762+280G>T) c.804+238G>T (n.804+238G>T) | |
9 | g.101362643C>G | CA374254352 | BAAT | c.1042G>C (p.Gly348Arg) c.762+280G>C (n.762+280G>C) c.804+238G>C (n.804+238G>C) | gnomAD v4 |
9 | g.101362643C>T | CA374254351 | BAAT | c.1042G>A (p.Gly348Arg) c.762+280G>A (n.762+280G>A) c.804+238G>A (n.804+238G>A) | gnomAD v4 |
9 | g.101362644A>C | CA374254353 | BAAT | c.1041T>G (p.His347Gln) c.762+279T>G (n.762+279T>G) c.804+237T>G (n.804+237T>G) | |
9 | g.101362644A>G | CA466650549 | BAAT | c.1041T>C (p.His347=) c.762+279T>C (n.762+279T>C) c.804+237T>C (n.804+237T>C) | |
9 | g.101362644A>T | CA374254354 | BAAT | c.1041T>A (p.His347Gln) c.762+279T>A (n.762+279T>A) c.804+237T>A (n.804+237T>A) | |
9 | g.101362645T>A | CA374254355 | BAAT | c.1040A>T (p.His347Leu) c.762+278A>T (n.762+278A>T) c.804+236A>T (n.804+236A>T) | |
9 | g.101362645T>C | CA5160579 | BAAT | c.1040A>G (p.His347Arg) c.762+278A>G (n.762+278A>G) c.804+236A>G (n.804+236A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362645T>G | CA374254356 | BAAT | c.1040A>C (p.His347Pro) c.762+278A>C (n.762+278A>C) c.804+236A>C (n.804+236A>C) | |
9 | g.101362645T= | CA1868206370 | BAAT | c.1040A= (p.His347=) c.762+278A= (n.762+278A=) c.804+236A= (n.804+236A=) | |
9 | g.101362646G>A | CA374254357 | BAAT | c.1039C>T (p.His347Tyr) c.762+277C>T (n.762+277C>T) c.804+235C>T (n.804+235C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362646G>C | CA374254358 | BAAT | c.1039C>G (p.His347Asp) c.762+277C>G (n.762+277C>G) c.804+235C>G (n.804+235C>G) | |
9 | g.101362646G= | CA1868206372 | BAAT | c.1039C= (p.His347=) c.762+277C= (n.762+277C=) c.804+235C= (n.804+235C=) | |
9 | g.101362646G>T | CA374254359 | BAAT | c.1039C>A (p.His347Asn) c.762+277C>A (n.762+277C>A) c.804+235C>A (n.804+235C>A) | |
9 | g.101362647T>A | CA374254360 | BAAT | c.1038A>T (p.Arg346Ser) c.762+276A>T (n.762+276A>T) c.804+234A>T (n.804+234A>T) | |
9 | g.101362647T>C | CA466650553 | BAAT | c.1038A>G (p.Arg346=) c.762+276A>G (n.762+276A>G) c.804+234A>G (n.804+234A>G) | |
9 | g.101362647T>G | CA374254361 | BAAT | c.1038A>C (p.Arg346Ser) c.762+276A>C (n.762+276A>C) c.804+234A>C (n.804+234A>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362647T= | CA1868206380 | BAAT | c.1038A= (p.Arg346=) c.762+276A= (n.762+276A=) c.804+234A= (n.804+234A=) | |
9 | g.101362648C>A | CA374254363 | BAAT | c.1037G>T (p.Arg346Ile) c.762+275G>T (n.762+275G>T) c.804+233G>T (n.804+233G>T) | COSMIC |
9 | g.101362648C= | CA1868206384 | BAAT | c.1037G= (p.Arg346=) c.762+275G= (n.762+275G=) c.804+233G= (n.804+233G=) | |
9 | g.101362648C>G | CA374254364 | BAAT | c.1037G>C (p.Arg346Thr) c.762+275G>C (n.762+275G>C) c.804+233G>C (n.804+233G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362648C>T | CA374254362 | BAAT | c.1037G>A (p.Arg346Lys) c.762+275G>A (n.762+275G>A) c.804+233G>A (n.804+233G>A) | |
9 | g.101362649T>A | CA374254365 | BAAT | c.1036A>T (p.Arg346Ter) c.762+274A>T (n.762+274A>T) c.804+232A>T (n.804+232A>T) | |
9 | g.101362649T>C | CA374254366 | BAAT | c.1036A>G (p.Arg346Gly) c.762+274A>G (n.762+274A>G) c.804+232A>G (n.804+232A>G) | |
9 | g.101362649T>G | CA466650556 | BAAT | c.1036A>C (p.Arg346=) c.762+274A>C (n.762+274A>C) c.804+232A>C (n.804+232A>C) | |
9 | g.101362650C>A | CA374254367 | BAAT | c.1035G>T (p.Lys345Asn) c.762+273G>T (n.762+273G>T) c.804+231G>T (n.804+231G>T) | |
9 | g.101362650C>G | CA374254368 | BAAT | c.1035G>C (p.Lys345Asn) c.762+273G>C (n.762+273G>C) c.804+231G>C (n.804+231G>C) | |
9 | g.101362650C>T | CA466650560 | BAAT | c.1035G>A (p.Lys345=) c.762+273G>A (n.762+273G>A) c.804+231G>A (n.804+231G>A) | |
9 | g.101362651T>A | CA374254369 | BAAT | c.1034A>T (p.Lys345Met) c.762+272A>T (n.762+272A>T) c.804+230A>T (n.804+230A>T) | |
9 | g.101362651T>C | CA374254370 | BAAT | c.1034A>G (p.Lys345Arg) c.762+272A>G (n.762+272A>G) c.804+230A>G (n.804+230A>G) | gnomAD v4 |
9 | g.101362651T>G | CA374254371 | BAAT | c.1034A>C (p.Lys345Thr) c.762+272A>C (n.762+272A>C) c.804+230A>C (n.804+230A>C) | dbSNP |
9 | g.101362651T= | CA1868206388 | BAAT | c.1034A= (p.Lys345=) c.762+272A= (n.762+272A=) c.804+230A= (n.804+230A=) | |
9 | g.101362652T>A | CA374254372 | BAAT | c.1033A>T (p.Lys345Ter) c.762+271A>T (n.762+271A>T) c.804+229A>T (n.804+229A>T) | |
9 | g.101362652T>C | CA374254373 | BAAT | c.1033A>G (p.Lys345Glu) c.762+271A>G (n.762+271A>G) c.804+229A>G (n.804+229A>G) | |
9 | g.101362652T>G | CA374254374 | BAAT | c.1033A>C (p.Lys345Gln) c.762+271A>C (n.762+271A>C) c.804+229A>C (n.804+229A>C) | |
9 | g.101362653C>A | CA466650564 | BAAT | c.1032G>T (p.Leu344=) c.762+270G>T (n.762+270G>T) c.804+228G>T (n.804+228G>T) | |
9 | g.101362653C>G | CA466650566 | BAAT | c.1032G>C (p.Leu344=) c.762+270G>C (n.762+270G>C) c.804+228G>C (n.804+228G>C) | |
9 | g.101362653C>T | CA466650568 | BAAT | c.1032G>A (p.Leu344=) c.762+270G>A (n.762+270G>A) c.804+228G>A (n.804+228G>A) | |
9 | g.101362654A>C | CA374254375 | BAAT | c.1031T>G (p.Leu344Arg) c.762+269T>G (n.762+269T>G) c.804+227T>G (n.804+227T>G) | |
9 | g.101362654A>G | CA374254376 | BAAT | c.1031T>C (p.Leu344Pro) c.762+269T>C (n.762+269T>C) c.804+227T>C (n.804+227T>C) | COSMIC |
9 | g.101362654A>T | CA374254377 | BAAT | c.1031T>A (p.Leu344Gln) c.762+269T>A (n.762+269T>A) c.804+227T>A (n.804+227T>A) | |
9 | g.101362655G>A | CA466650570 | BAAT | c.1030C>T (p.Leu344=) c.762+268C>T (n.762+268C>T) c.804+226C>T (n.804+226C>T) | |
9 | g.101362655G>C | CA374254378 | BAAT | c.1030C>G (p.Leu344Val) c.762+268C>G (n.762+268C>G) c.804+226C>G (n.804+226C>G) | |
9 | g.101362655G= | CA1868206390 | BAAT | c.1030C= (p.Leu344=) c.762+268C= (n.762+268C=) c.804+226C= (n.804+226C=) | |
9 | g.101362655G>T | CA5160580 | BAAT | c.1030C>A (p.Leu344Met) c.762+268C>A (n.762+268C>A) c.804+226C>A (n.804+226C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362656C>A | CA374254379 | BAAT | c.1029G>T (p.Gln343His) c.762+267G>T (n.762+267G>T) c.804+225G>T (n.804+225G>T) | COSMIC |
9 | g.101362656C= | CA1868206396 | BAAT | c.1029G= (p.Gln343=) c.762+267G= (n.762+267G=) c.804+225G= (n.804+225G=) | |
9 | g.101362656C>G | CA374254380 | BAAT | c.1029G>C (p.Gln343His) c.762+267G>C (n.762+267G>C) c.804+225G>C (n.804+225G>C) | |
9 | g.101362656C>T | CA466650571 | BAAT | c.1029G>A (p.Gln343=) c.762+267G>A (n.762+267G>A) c.804+225G>A (n.804+225G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.101362657T>A | CA374254381 | BAAT | c.1028A>T (p.Gln343Leu) c.762+266A>T (n.762+266A>T) c.804+224A>T (n.804+224A>T) | |
9 | g.101362657T>C | CA374254382 | BAAT | c.1028A>G (p.Gln343Arg) c.762+266A>G (n.762+266A>G) c.804+224A>G (n.804+224A>G) | gnomAD v4 |
9 | g.101362657T>G | CA5160581 | BAAT | c.1028A>C (p.Gln343Pro) c.762+266A>C (n.762+266A>C) c.804+224A>C (n.804+224A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362657T= | CA1868206397 | BAAT | c.1028A= (p.Gln343=) c.762+266A= (n.762+266A=) c.804+224A= (n.804+224A=) | |
9 | g.101362658G>A | CA374254385 | BAAT | c.1027C>T (p.Gln343Ter) c.762+265C>T (n.762+265C>T) c.804+223C>T (n.804+223C>T) | |
9 | g.101362658G>C | CA374254384 | BAAT | c.1027C>G (p.Gln343Glu) c.762+265C>G (n.762+265C>G) c.804+223C>G (n.804+223C>G) | |
9 | g.101362658G>T | CA374254383 | BAAT | c.1027C>A (p.Gln343Lys) c.762+265C>A (n.762+265C>A) c.804+223C>A (n.804+223C>A) | |
9 | g.101362659T>A | CA466650574 | BAAT | c.1026A>T (p.Gly342=) c.762+264A>T (n.762+264A>T) c.804+222A>T (n.804+222A>T) | |
9 | g.101362659T>C | CA466650575 | BAAT | c.1026A>G (p.Gly342=) c.762+264A>G (n.762+264A>G) c.804+222A>G (n.804+222A>G) | |
9 | g.101362659T>G | CA466650576 | BAAT | c.1026A>C (p.Gly342=) c.762+264A>C (n.762+264A>C) c.804+222A>C (n.804+222A>C) | |
9 | g.101362660C>A | CA374254386 | BAAT | c.1025G>T (p.Gly342Val) c.762+263G>T (n.762+263G>T) c.804+221G>T (n.804+221G>T) | |
9 | g.101362660C>G | CA374254387 | BAAT | c.1025G>C (p.Gly342Ala) c.762+263G>C (n.762+263G>C) c.804+221G>C (n.804+221G>C) | |
9 | g.101362660C>T | CA374254388 | BAAT | c.1025G>A (p.Gly342Glu) c.762+263G>A (n.762+263G>A) c.804+221G>A (n.804+221G>A) | COSMIC |
9 | g.101362661C>A | CA374254389 | BAAT | c.1024G>T (p.Gly342Ter) c.762+262G>T (n.762+262G>T) c.804+220G>T (n.804+220G>T) | |
9 | g.101362661C>G | CA374254390 | BAAT | c.1024G>C (p.Gly342Arg) c.762+262G>C (n.762+262G>C) c.804+220G>C (n.804+220G>C) | |
9 | g.101362661C>T | CA374254391 | BAAT | c.1024G>A (p.Gly342Arg) c.762+262G>A (n.762+262G>A) c.804+220G>A (n.804+220G>A) | gnomAD v4 COSMIC |
9 | g.101362662T>A | CA466650578 | BAAT | c.1023A>T (p.Ile341=) c.762+261A>T (n.762+261A>T) c.804+219A>T (n.804+219A>T) | |
9 | g.101362662T>C | CA5160582 | BAAT | c.1023A>G (p.Ile341Met) c.762+261A>G (n.762+261A>G) c.804+219A>G (n.804+219A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362662T>G | CA466650583 | BAAT | c.1023A>C (p.Ile341=) c.762+261A>C (n.762+261A>C) c.804+219A>C (n.804+219A>C) | |
9 | g.101362662T= | CA1868206399 | BAAT | c.1023A= (p.Ile341=) c.762+261A= (n.762+261A=) c.804+219A= (n.804+219A=) | |
9 | g.101362663A= | CA1868206405 | BAAT | c.1022T= (p.Ile341=) c.762+260T= (n.762+260T=) c.804+218T= (n.804+218T=) | |
9 | g.101362663A>C | CA374254393 | BAAT | c.1022T>G (p.Ile341Arg) c.762+260T>G (n.762+260T>G) c.804+218T>G (n.804+218T>G) | |
9 | g.101362663A>G | CA5160583 | BAAT | c.1022T>C (p.Ile341Thr) c.762+260T>C (n.762+260T>C) c.804+218T>C (n.804+218T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362663A>T | CA374254392 | BAAT | c.1022T>A (p.Ile341Lys) c.762+260T>A (n.762+260T>A) c.804+218T>A (n.804+218T>A) | |
9 | g.101362664T>A | CA374254396 | BAAT | c.1021A>T (p.Ile341Leu) c.762+259A>T (n.762+259A>T) c.804+217A>T (n.804+217A>T) | |
9 | g.101362664T>C | CA374254394 | BAAT | c.1021A>G (p.Ile341Val) c.762+259A>G (n.762+259A>G) c.804+217A>G (n.804+217A>G) | |
9 | g.101362664T>G | CA374254395 | BAAT | c.1021A>C (p.Ile341Leu) c.762+259A>C (n.762+259A>C) c.804+217A>C (n.804+217A>C) | |
9 | g.101362665G>A | CA466650585 | BAAT | c.1020C>T (p.Ala340=) c.762+258C>T (n.762+258C>T) c.804+216C>T (n.804+216C>T) | gnomAD v4 |
9 | g.101362665G>C | CA466650586 | BAAT | c.1020C>G (p.Ala340=) c.762+258C>G (n.762+258C>G) c.804+216C>G (n.804+216C>G) | |
9 | g.101362665G>T | CA466650587 | BAAT | c.1020C>A (p.Ala340=) c.762+258C>A (n.762+258C>A) c.804+216C>A (n.804+216C>A) | |
9 | g.101362666G>A | CA374254397 | BAAT | c.1019C>T (p.Ala340Val) c.762+257C>T (n.762+257C>T) c.804+215C>T (n.804+215C>T) | gnomAD v4 |
9 | g.101362666G>C | CA374254398 | BAAT | c.1019C>G (p.Ala340Gly) c.762+257C>G (n.762+257C>G) c.804+215C>G (n.804+215C>G) | |
9 | g.101362666G>T | CA374254399 | BAAT | c.1019C>A (p.Ala340Asp) c.762+257C>A (n.762+257C>A) c.804+215C>A (n.804+215C>A) | |
9 | g.101362667C>A | CA374254400 | BAAT | c.1018G>T (p.Ala340Ser) c.762+256G>T (n.762+256G>T) c.804+214G>T (n.804+214G>T) | |
9 | g.101362667C= | CA1868206411 | BAAT | c.1018G= (p.Ala340=) c.762+256G= (n.762+256G=) c.804+214G= (n.804+214G=) | |
9 | g.101362667C>G | CA5160584 | BAAT | c.1018G>C (p.Ala340Pro) c.762+256G>C (n.762+256G>C) c.804+214G>C (n.804+214G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362667C>T | CA374254401 | BAAT | c.1018G>A (p.Ala340Thr) c.762+256G>A (n.762+256G>A) c.804+214G>A (n.804+214G>A) | |
9 | g.101362668T>A | CA374254402 | BAAT | c.1017A>T (p.Gln339His) c.762+255A>T (n.762+255A>T) c.804+213A>T (n.804+213A>T) | |
9 | g.101362668T>C | CA466650591 | BAAT | c.1017A>G (p.Gln339=) c.762+255A>G (n.762+255A>G) c.804+213A>G (n.804+213A>G) | |
9 | g.101362668T>G | CA374254403 | BAAT | c.1017A>C (p.Gln339His) c.762+255A>C (n.762+255A>C) c.804+213A>C (n.804+213A>C) | |
9 | g.101362669_101362670insTTTT | CA590045400 | BAAT | c.1017_1018insAAAA (p.Ala340LysfsTer?) c.762+255_762+256insAAAA (n.762+255_762+256insAAAA) c.804+213_804+214insAAAA (n.804+213_804+214insAAAA) | gnomAD v2 |
9 | g.101362669_101362670insTTTTTT | CA590045401 | BAAT | c.1017_1018insAAAAAA (p.Gln339_Ala340insLysLys) c.762+255_762+256insAAAAAA (n.762+255_762+256insAAAAAA) c.804+213_804+214insAAAAAA (n.804+213_804+214insAAAAAA) | gnomAD v2 |
9 | g.101362669dup | CA590045399 | BAAT | c.1017dup (p.Ala340SerfsTer?) c.762+255dup (n.762+255dup) c.804+213dup (n.804+213dup) | gnomAD v2 gnomAD v4 |
9 | g.101362669T>A | CA374254404 | BAAT | c.1016A>T (p.Gln339Leu) c.762+254A>T (n.762+254A>T) c.804+212A>T (n.804+212A>T) | |
9 | g.101362669T>C | CA374254405 | BAAT | c.1016A>G (p.Gln339Arg) c.762+254A>G (n.762+254A>G) c.804+212A>G (n.804+212A>G) | |
9 | g.101362669T>G | CA374254406 | BAAT | c.1016A>C (p.Gln339Pro) c.762+254A>C (n.762+254A>C) c.804+212A>C (n.804+212A>C) | |
9 | g.101362669_101362670delinsTG | CA1868206412 | BAAT | c.1015_1016delinsCA (p.Gln339=) c.762+253_762+254delinsCA (n.762+253_762+254delinsCA) c.804+211_804+212delinsCA (n.804+211_804+212delinsCA) | |
9 | g.101362670del | CA590045402 | BAAT | c.1015del (p.Gln339LysfsTer3) c.762+253del (n.762+253del) c.804+211del (n.804+211del) | dbSNP gnomAD v2 |
9 | g.101362670G>A | CA374254408 | BAAT | c.1015C>T (p.Gln339Ter) c.762+253C>T (n.762+253C>T) c.804+211C>T (n.804+211C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362670G>C | CA374254407 | BAAT | c.1015C>G (p.Gln339Glu) c.762+253C>G (n.762+253C>G) c.804+211C>G (n.804+211C>G) | |
9 | g.101362670G= | CA1868206415 | BAAT | c.1015C= (p.Gln339=) c.762+253C= (n.762+253C=) c.804+211C= (n.804+211C=) | |
9 | g.101362670G>T | CA5160585 | BAAT | c.1015C>A (p.Gln339Lys) c.762+253C>A (n.762+253C>A) c.804+211C>A (n.804+211C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362671T>A | CA374254409 | BAAT | c.1014A>T (p.Glu338Asp) c.762+252A>T (n.762+252A>T) c.804+210A>T (n.804+210A>T) | |
9 | g.101362671T>C | CA466650595 | BAAT | c.1014A>G (p.Glu338=) c.762+252A>G (n.762+252A>G) c.804+210A>G (n.804+210A>G) | gnomAD v4 |
9 | g.101362671T>G | CA374254410 | BAAT | c.1014A>C (p.Glu338Asp) c.762+252A>C (n.762+252A>C) c.804+210A>C (n.804+210A>C) | |
9 | g.101362671T= | CA1868206418 | BAAT | c.1014A= (p.Glu338=) c.762+252A= (n.762+252A=) c.804+210A= (n.804+210A=) | |
9 | g.101362672T>A | CA374254411 | BAAT | c.1013A>T (p.Glu338Val) c.762+251A>T (n.762+251A>T) c.804+209A>T (n.804+209A>T) | |
9 | g.101362672T>C | CA374254412 | BAAT | c.1013A>G (p.Glu338Gly) c.762+251A>G (n.762+251A>G) c.804+209A>G (n.804+209A>G) | |
9 | g.101362672T>G | CA374254413 | BAAT | c.1013A>C (p.Glu338Ala) c.762+251A>C (n.762+251A>C) c.804+209A>C (n.804+209A>C) | |
9 | g.101362672_101362673insTCT | CA590045362 | BAAT | c.1013_1014insGAA (p.Glu338_Gln339insLys) c.762+251_762+252insGAA (n.762+251_762+252insGAA) c.804+209_804+210insGAA (n.804+209_804+210insGAA) | dbSNP gnomAD v2 |
9 | g.101362672_101362682delinsTCAGCGTGTGC | CA1868206423 | BAAT | c.1003_1013delinsGCACACGCTGA (p.Ala335=) c.762+241_762+251delinsGCACACGCTGA (n.762+241_762+251delinsGCACACGCTGA) c.804+199_804+209delinsGCACACGCTGA (n.804+199_804+209delinsGCACACGCTGA) | |
9 | g.101362672_101362673insTC | CA590045365 | BAAT | c.1012_1013insGA (p.Glu338GlyfsTer5) c.762+250_762+251insGA (n.762+250_762+251insGA) c.804+208_804+209insGA (n.804+208_804+209insGA) | gnomAD v2 |
9 | g.101362673C>A | CA374254414 | BAAT | c.1012G>T (p.Glu338Ter) c.762+250G>T (n.762+250G>T) c.804+208G>T (n.804+208G>T) | |
9 | g.101362673C= | CA1868206428 | BAAT | c.1012G= (p.Glu338=) c.762+250G= (n.762+250G=) c.804+208G= (n.804+208G=) | |
9 | g.101362673C>G | CA374254415 | BAAT | c.1012G>C (p.Glu338Gln) c.762+250G>C (n.762+250G>C) c.804+208G>C (n.804+208G>C) | |
9 | g.101362673C>T | CA5160587 | BAAT | c.1012G>A (p.Glu338Lys) c.762+250G>A (n.762+250G>A) c.804+208G>A (n.804+208G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362673_101362676del | CA590045364 | BAAT | c.1009_1012del (p.Ala337AsnfsTer4) c.762+247_762+250del (n.762+247_762+250del) c.804+205_804+208del (n.804+205_804+208del) | gnomAD v2 |
9 | g.101362673_101362677del | CA590045363 | BAAT | c.1008_1012del (p.His336GlnfsTer?) c.762+246_762+250del (n.762+246_762+250del) c.804+204_804+208del (n.804+204_804+208del) | gnomAD v2 |
9 | g.101362673_101362682del | CA5160586 | BAAT | c.1003_1012del (p.Ala335AsnfsTer4) c.762+241_762+250del (n.762+241_762+250del) c.804+199_804+208del (n.804+199_804+208del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362674A= | CA1868206433 | BAAT | c.1011T= (p.Ala337=) c.762+249T= (n.762+249T=) c.804+207T= (n.804+207T=) | |
9 | g.101362674A>C | CA5160588 | BAAT | c.1011T>G (p.Ala337=) c.762+249T>G (n.762+249T>G) c.804+207T>G (n.804+207T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362674A>G | CA466650306 | BAAT | c.1011T>C (p.Ala337=) c.762+249T>C (n.762+249T>C) c.804+207T>C (n.804+207T>C) | gnomAD v4 |
9 | g.101362674A>T | CA5160589 | BAAT | c.1011T>A (p.Ala337=) c.762+249T>A (n.762+249T>A) c.804+207T>A (n.804+207T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362674_101362675del | CA590045366 | BAAT | c.1010_1011del (p.Ala337GlyfsTer?) c.762+248_762+249del (n.762+248_762+249del) c.804+206_804+207del (n.804+206_804+207del) | gnomAD v2 |
9 | g.101362675G>A | CA5160591 | BAAT | c.1010C>T (p.Ala337Val) c.762+248C>T (n.762+248C>T) c.804+206C>T (n.804+206C>T) | dbSNP ExAC |
9 | g.101362675G>C | CA374254416 | BAAT | c.1010C>G (p.Ala337Gly) c.762+248C>G (n.762+248C>G) c.804+206C>G (n.804+206C>G) | |
9 | g.101362675G= | CA1868206440 | BAAT | c.1010C= (p.Ala337=) c.762+248C= (n.762+248C=) c.804+206C= (n.804+206C=) | |
9 | g.101362675G>T | CA5160590 | BAAT | c.1010C>A (p.Ala337Asp) c.762+248C>A (n.762+248C>A) c.804+206C>A (n.804+206C>A) | dbSNP ExAC |
9 | g.101362676C>A | CA5160593 | BAAT | c.1009G>T (p.Ala337Ser) c.762+247G>T (n.762+247G>T) c.804+205G>T (n.804+205G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362676C= | CA1868206446 | BAAT | c.1009G= (p.Ala337=) c.762+247G= (n.762+247G=) c.804+205G= (n.804+205G=) | |
9 | g.101362676C>G | CA374254417 | BAAT | c.1009G>C (p.Ala337Pro) c.762+247G>C (n.762+247G>C) c.804+205G>C (n.804+205G>C) | |
9 | g.101362676C>T | CA5160592 | BAAT | c.1009G>A (p.Ala337Thr) c.762+247G>A (n.762+247G>A) c.804+205G>A (n.804+205G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362676_101362677insTTTT | CA590045367 | BAAT | c.1008_1009insAAAA (p.Ala337LysfsTer3) c.762+246_762+247insAAAA (n.762+246_762+247insAAAA) c.804+204_804+205insAAAA (n.804+204_804+205insAAAA) | gnomAD v2 |
9 | g.101362677G>A | CA5160594 | BAAT | c.1008C>T (p.His336=) c.762+246C>T (n.762+246C>T) c.804+204C>T (n.804+204C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362677G>C | CA374254418 | BAAT | c.1008C>G (p.His336Gln) c.762+246C>G (n.762+246C>G) c.804+204C>G (n.804+204C>G) | |
9 | g.101362677G= | CA1868206460 | BAAT | c.1008C= (p.His336=) c.762+246C= (n.762+246C=) c.804+204C= (n.804+204C=) | |
9 | g.101362677G>T | CA5160595 | BAAT | c.1008C>A (p.His336Gln) c.762+246C>A (n.762+246C>A) c.804+204C>A (n.804+204C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362678T>A | CA374254419 | BAAT | c.1007A>T (p.His336Leu) c.762+245A>T (n.762+245A>T) c.804+203A>T (n.804+203A>T) | |
9 | g.101362678T>C | CA374254420 | BAAT | c.1007A>G (p.His336Arg) c.762+245A>G (n.762+245A>G) c.804+203A>G (n.804+203A>G) | |
9 | g.101362678T>G | CA374254421 | BAAT | c.1007A>C (p.His336Pro) c.762+245A>C (n.762+245A>C) c.804+203A>C (n.804+203A>C) | |
9 | g.101362678dup | CA5160596 | BAAT | c.1007dup (p.His336GlnfsTer3) c.762+245dup (n.762+245dup) c.804+203dup (n.804+203dup) | dbSNP ExAC |
9 | g.101362678_101362682delinsTGTGC | CA1868206471 | BAAT | c.1003_1007delinsGCACA (p.Ala335=) c.762+241_762+245delinsGCACA (n.762+241_762+245delinsGCACA) c.804+199_804+203delinsGCACA (n.804+199_804+203delinsGCACA) | |
9 | g.101362679G>A | CA374254422 | BAAT | c.1006C>T (p.His336Tyr) c.762+244C>T (n.762+244C>T) c.804+202C>T (n.804+202C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101362679G>C | CA374254423 | BAAT | c.1006C>G (p.His336Asp) c.762+244C>G (n.762+244C>G) c.804+202C>G (n.804+202C>G) | |
9 | g.101362679G= | CA1868206478 | BAAT | c.1006C= (p.His336=) c.762+244C= (n.762+244C=) c.804+202C= (n.804+202C=) | |
9 | g.101362679G>T | CA5160597 | BAAT | c.1006C>A (p.His336Asn) c.762+244C>A (n.762+244C>A) c.804+202C>A (n.804+202C>A) | dbSNP ExAC gnomAD v2 |
9 | g.101362679_101362682del | CA590045368 | BAAT | c.1003_1006del (p.Ala335ThrfsTer6) c.762+241_762+244del (n.762+241_762+244del) c.804+199_804+202del (n.804+199_804+202del) | dbSNP gnomAD v2 |
9 | g.101362680T>A | CA466650321 | BAAT | c.1005A>T (p.Ala335=) c.762+243A>T (n.762+243A>T) c.804+201A>T (n.804+201A>T) | |
9 | g.101362680T>C | CA466650324 | BAAT | c.1005A>G (p.Ala335=) c.762+243A>G (n.762+243A>G) c.804+201A>G (n.804+201A>G) | |
9 | g.101362680T>G | CA466650326 | BAAT | c.1005A>C (p.Ala335=) c.762+243A>C (n.762+243A>C) c.804+201A>C (n.804+201A>C) | |
9 | g.101362681G>A | CA374254424 | BAAT | c.1004C>T (p.Ala335Val) c.762+242C>T (n.762+242C>T) c.804+200C>T (n.804+200C>T) | |
9 | g.101362681G>C | CA374254425 | BAAT | c.1004C>G (p.Ala335Gly) c.762+242C>G (n.762+242C>G) c.804+200C>G (n.804+200C>G) | |
9 | g.101362681G>T | CA374254426 | BAAT | c.1004C>A (p.Ala335Glu) c.762+242C>A (n.762+242C>A) c.804+200C>A (n.804+200C>A) | |
9 | g.101362682C>A | CA374254428 | BAAT | c.1003G>T (p.Ala335Ser) c.762+241G>T (n.762+241G>T) c.804+199G>T (n.804+199G>T) | |
9 | g.101362682C= | CA1868206482 | BAAT | c.1003G= (p.Ala335=) c.762+241G= (n.762+241G=) c.804+199G= (n.804+199G=) | |
9 | g.101362682C>G | CA374254427 | BAAT | c.1003G>C (p.Ala335Pro) c.762+241G>C (n.762+241G>C) c.804+199G>C (n.804+199G>C) | |
9 | g.101362682C>T | CA5160598 | BAAT | c.1003G>A (p.Ala335Thr) c.762+241G>A (n.762+241G>A) c.804+199G>A (n.804+199G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362683T>A | CA374254429 | BAAT | c.1002A>T (p.Lys334Asn) c.762+240A>T (n.762+240A>T) c.804+198A>T (n.804+198A>T) | |
9 | g.101362683T>C | CA466650333 | BAAT | c.1002A>G (p.Lys334=) c.762+240A>G (n.762+240A>G) c.804+198A>G (n.804+198A>G) | COSMIC |
9 | g.101362683T>G | CA374254430 | BAAT | c.1002A>C (p.Lys334Asn) c.762+240A>C (n.762+240A>C) c.804+198A>C (n.804+198A>C) | |
9 | g.101362684T>A | CA374254431 | BAAT | c.1001A>T (p.Lys334Ile) c.762+239A>T (n.762+239A>T) c.804+197A>T (n.804+197A>T) | |
9 | g.101362684T>C | CA374254432 | BAAT | c.1001A>G (p.Lys334Arg) c.762+239A>G (n.762+239A>G) c.804+197A>G (n.804+197A>G) | |
9 | g.101362684T>G | CA374254433 | BAAT | c.1001A>C (p.Lys334Thr) c.762+239A>C (n.762+239A>C) c.804+197A>C (n.804+197A>C) | |
9 | g.101362685T>A | CA374254434 | BAAT | c.1000A>T (p.Lys334Ter) c.762+238A>T (n.762+238A>T) c.804+196A>T (n.804+196A>T) | |
9 | g.101362685T>C | CA374254435 | BAAT | c.1000A>G (p.Lys334Glu) c.762+238A>G (n.762+238A>G) c.804+196A>G (n.804+196A>G) | |
9 | g.101362685T>G | CA374254436 | BAAT | c.1000A>C (p.Lys334Gln) c.762+238A>C (n.762+238A>C) c.804+196A>C (n.804+196A>C) | |
9 | g.101362686G>A | CA466650343 | BAAT | c.999C>T (p.Ser333=) c.762+237C>T (n.762+237C>T) c.804+195C>T (n.804+195C>T) | |
9 | g.101362686G>C | CA374254437 | BAAT | c.999C>G (p.Ser333Arg) c.762+237C>G (n.762+237C>G) c.804+195C>G (n.804+195C>G) | |
9 | g.101362686G= | CA1868206483 | BAAT | c.999C= (p.Ser333=) c.762+237C= (n.762+237C=) c.804+195C= (n.804+195C=) | |
9 | g.101362686G>T | CA5160599 | BAAT | c.999C>A (p.Ser333Arg) c.762+237C>A (n.762+237C>A) c.804+195C>A (n.804+195C>A) | dbSNP ExAC |
9 | g.101362687C>A | CA374254438 | BAAT | c.998G>T (p.Ser333Ile) c.762+236G>T (n.762+236G>T) c.804+194G>T (n.804+194G>T) | |
9 | g.101362687C= | CA1868206486 | BAAT | c.998G= (p.Ser333=) c.762+236G= (n.762+236G=) c.804+194G= (n.804+194G=) | |
9 | g.101362687C>G | CA374254439 | BAAT | c.998G>C (p.Ser333Thr) c.762+236G>C (n.762+236G>C) c.804+194G>C (n.804+194G>C) | |
9 | g.101362687C>T | CA374254440 | BAAT | c.998G>A (p.Ser333Asn) c.762+236G>A (n.762+236G>A) c.804+194G>A (n.804+194G>A) | dbSNP |
9 | g.101362688T>A | CA374254442 | BAAT | c.997A>T (p.Ser333Cys) c.762+235A>T (n.762+235A>T) c.804+193A>T (n.804+193A>T) | |
9 | g.101362688T>C | CA5160600 | BAAT | c.997A>G (p.Ser333Gly) c.762+235A>G (n.762+235A>G) c.804+193A>G (n.804+193A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362688T>G | CA374254441 | BAAT | c.997A>C (p.Ser333Arg) c.762+235A>C (n.762+235A>C) c.804+193A>C (n.804+193A>C) | |
9 | g.101362688T= | CA1868206489 | BAAT | c.997A= (p.Ser333=) c.762+235A= (n.762+235A=) c.804+193A= (n.804+193A=) | |
9 | g.101362689G>A | CA5160601 | BAAT | c.996C>T (p.Asn332=) c.762+234C>T (n.762+234C>T) c.804+192C>T (n.804+192C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101362689G>C | CA374254444 | BAAT | c.996C>G (p.Asn332Lys) c.762+234C>G (n.762+234C>G) c.804+192C>G (n.804+192C>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362689G= | CA1868206497 | BAAT | c.996C= (p.Asn332=) c.762+234C= (n.762+234C=) c.804+192C= (n.804+192C=) | |
9 | g.101362689G>T | CA374254443 | BAAT | c.996C>A (p.Asn332Lys) c.762+234C>A (n.762+234C>A) c.804+192C>A (n.804+192C>A) | |
9 | g.101362690T>A | CA374254445 | BAAT | c.995A>T (p.Asn332Ile) c.762+233A>T (n.762+233A>T) c.804+191A>T (n.804+191A>T) | |
9 | g.101362690T>C | CA5160602 | BAAT | c.995A>G (p.Asn332Ser) c.762+233A>G (n.762+233A>G) c.804+191A>G (n.804+191A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101362690T>G | CA374254446 | BAAT | c.995A>C (p.Asn332Thr) c.762+233A>C (n.762+233A>C) c.804+191A>C (n.804+191A>C) | |
9 | g.101362690T= | CA1868206504 | BAAT | c.995A= (p.Asn332=) c.762+233A= (n.762+233A=) c.804+191A= (n.804+191A=) | |
9 | g.101362691T>A | CA374254447 | BAAT | c.994A>T (p.Asn332Tyr) c.762+232A>T (n.762+232A>T) c.804+190A>T (n.804+190A>T) | |
9 | g.101362691T>C | CA374254448 | BAAT | c.994A>G (p.Asn332Asp) c.762+232A>G (n.762+232A>G) c.804+190A>G (n.804+190A>G) | |
9 | g.101362691T>G | CA374254449 | BAAT | c.994A>C (p.Asn332His) c.762+232A>C (n.762+232A>C) c.804+190A>C (n.804+190A>C) | |
9 | g.101362692G>A | CA466650351 | BAAT | c.993C>T (p.Ile331=) c.762+231C>T (n.762+231C>T) c.804+189C>T (n.804+189C>T) | |
9 | g.101362692G>C | CA374254450 | BAAT | c.993C>G (p.Ile331Met) c.762+231C>G (n.762+231C>G) c.804+189C>G (n.804+189C>G) | gnomAD v4 |
9 | g.101362692G= | CA1868206508 | BAAT | c.993C= (p.Ile331=) c.762+231C= (n.762+231C=) c.804+189C= (n.804+189C=) | |
9 | g.101362692G>T | CA466650352 | BAAT | c.993C>A (p.Ile331=) c.762+231C>A (n.762+231C>A) c.804+189C>A (n.804+189C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101362693A= | CA1868206512 | BAAT | c.992T= (p.Ile331=) c.762+230T= (n.762+230T=) c.804+188T= (n.804+188T=) | |
9 | g.101362693A>C | CA374254451 | BAAT | c.992T>G (p.Ile331Ser) c.762+230T>G (n.762+230T>G) c.804+188T>G (n.804+188T>G) | |
9 | g.101362693A>G | CA5160603 | BAAT | c.992T>C (p.Ile331Thr) c.762+230T>C (n.762+230T>C) c.804+188T>C (n.804+188T>C) | ClinVar dbSNP ExAC gnomAD v2 |
9 | g.101362693A>T | CA374254452 | BAAT | c.992T>A (p.Ile331Asn) c.762+230T>A (n.762+230T>A) c.804+188T>A (n.804+188T>A) | |
9 | g.101362694T>A | CA374254455 | BAAT | c.991A>T (p.Ile331Phe) c.762+229A>T (n.762+229A>T) c.804+187A>T (n.804+187A>T) | |
9 | g.101362694T>C | CA374254454 | BAAT | c.991A>G (p.Ile331Val) c.762+229A>G (n.762+229A>G) c.804+187A>G (n.804+187A>G) | |
9 | g.101362694T>G | CA374254453 | BAAT | c.991A>C (p.Ile331Leu) c.762+229A>C (n.762+229A>C) c.804+187A>C (n.804+187A>C) | |
9 | g.101362695A= | CA1868206516 | BAAT | c.990T= (p.Thr330=) c.762+228T= (n.762+228T=) c.804+186T= (n.804+186T=) | |
9 | g.101362695A>C | CA466650358 | BAAT | c.990T>G (p.Thr330=) c.762+228T>G (n.762+228T>G) c.804+186T>G (n.804+186T>G) | |
9 | g.101362695A>G | CA5160604 | BAAT | c.990T>C (p.Thr330=) c.762+228T>C (n.762+228T>C) c.804+186T>C (n.804+186T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101362695A>T | CA466650360 | BAAT | c.990T>A (p.Thr330=) c.762+228T>A (n.762+228T>A) c.804+186T>A (n.804+186T>A) | |
9 | g.101362696G>A | CA374254456 | BAAT | c.989C>T (p.Thr330Ile) c.762+227C>T (n.762+227C>T) c.804+185C>T (n.804+185C>T) | |
9 | g.101362696G>C | CA374254457 | BAAT | c.989C>G (p.Thr330Ser) c.762+227C>G (n.762+227C>G) c.804+185C>G (n.804+185C>G) | |
9 | g.101362696G>T | CA374254458 | BAAT | c.989C>A (p.Thr330Asn) c.762+227C>A (n.762+227C>A) c.804+185C>A (n.804+185C>A) | |
9 | g.101362697T>A | CA374254459 | BAAT | c.988A>T (p.Thr330Ser) c.762+226A>T (n.762+226A>T) c.804+184A>T (n.804+184A>T) | |
9 | g.101362697T>C | CA374254460 | BAAT | c.988A>G (p.Thr330Ala) c.762+226A>G (n.762+226A>G) c.804+184A>G (n.804+184A>G) | |
9 | g.101362697T>G | CA374254461 | BAAT | c.988A>C (p.Thr330Pro) c.762+226A>C (n.762+226A>C) c.804+184A>C (n.804+184A>C) | |
9 | g.101362698C>A | CA374254462 | BAAT | c.987G>T (p.Lys329Asn) c.762+225G>T (n.762+225G>T) c.804+183G>T (n.804+183G>T) | |
9 | g.101362698C>G | CA374254463 | BAAT | c.987G>C (p.Lys329Asn) c.762+225G>C (n.762+225G>C) c.804+183G>C (n.804+183G>C) | |
9 | g.101362698C>T | CA466650366 | BAAT | c.987G>A (p.Lys329=) c.762+225G>A (n.762+225G>A) c.804+183G>A (n.804+183G>A) | |
9 | g.101362699T>A | CA374254464 | BAAT | c.986A>T (p.Lys329Met) c.762+224A>T (n.762+224A>T) c.804+182A>T (n.804+182A>T) | |
9 | g.101362699T>C | CA374254465 | BAAT | c.986A>G (p.Lys329Arg) c.762+224A>G (n.762+224A>G) c.804+182A>G (n.804+182A>G) | |
9 | g.101362699T>G | CA374254466 | BAAT | c.986A>C (p.Lys329Thr) c.762+224A>C (n.762+224A>C) c.804+182A>C (n.804+182A>C) | |
9 | g.101362700T>A | CA374254468 | BAAT | c.985A>T (p.Lys329Ter) c.762+223A>T (n.762+223A>T) c.804+181A>T (n.804+181A>T) | |
9 | g.101362700T>C | CA374254469 | BAAT | c.985A>G (p.Lys329Glu) c.762+223A>G (n.762+223A>G) c.804+181A>G (n.804+181A>G) | |
9 | g.101362700T>G | CA374254467 | BAAT | c.985A>C (p.Lys329Gln) c.762+223A>C (n.762+223A>C) c.804+181A>C (n.804+181A>C) | |
9 | g.101362701A= | CA1868206521 | BAAT | c.984T= (p.Asp328=) c.762+222T= (n.762+222T=) c.804+180T= (n.804+180T=) | |
9 | g.101362701A>C | CA374254470 | BAAT | c.984T>G (p.Asp328Glu) c.762+222T>G (n.762+222T>G) c.804+180T>G (n.804+180T>G) | |
9 | g.101362701A>G | CA466650380 | BAAT | c.984T>C (p.Asp328=) c.762+222T>C (n.762+222T>C) c.804+180T>C (n.804+180T>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362701A>T | CA374254471 | BAAT | c.984T>A (p.Asp328Glu) c.762+222T>A (n.762+222T>A) c.804+180T>A (n.804+180T>A) | |
9 | g.101362702T>A | CA374254472 | BAAT | c.983A>T (p.Asp328Val) c.762+221A>T (n.762+221A>T) c.804+179A>T (n.804+179A>T) | gnomAD v4 |
9 | g.101362702T>C | CA374254473 | BAAT | c.983A>G (p.Asp328Gly) c.762+221A>G (n.762+221A>G) c.804+179A>G (n.804+179A>G) | dbSNP gnomAD v4 COSMIC |
9 | g.101362702T>G | CA374254474 | BAAT | c.983A>C (p.Asp328Ala) c.762+221A>C (n.762+221A>C) c.804+179A>C (n.804+179A>C) | |
9 | g.101362702T= | CA1868206524 | BAAT | c.983A= (p.Asp328=) c.762+221A= (n.762+221A=) c.804+179A= (n.804+179A=) | |
9 | g.101362703C>A | CA374254475 | BAAT | c.982G>T (p.Asp328Tyr) c.762+220G>T (n.762+220G>T) c.804+178G>T (n.804+178G>T) | |
9 | g.101362703C= | CA1868206526 | BAAT | c.982G= (p.Asp328=) c.762+220G= (n.762+220G=) c.804+178G= (n.804+178G=) | |
9 | g.101362703C>G | CA374254476 | BAAT | c.982G>C (p.Asp328His) c.762+220G>C (n.762+220G>C) c.804+178G>C (n.804+178G>C) | |
9 | g.101362703C>T | CA374254477 | BAAT | c.982G>A (p.Asp328Asn) c.762+220G>A (n.762+220G>A) c.804+178G>A (n.804+178G>A) | dbSNP gnomAD v4 |
9 | g.101362704del | CA2691011813 | BAAT | c.981del (p.Asp328IlefsTer14) c.762+219del (n.762+219del) c.804+177del (n.804+177del) | gnomAD v4 |
9 | g.101362704A>C | CA466650383 | BAAT | c.981T>G (p.Gly327=) c.762+219T>G (n.762+219T>G) c.804+177T>G (n.804+177T>G) | |
9 | g.101362704A>G | CA466650384 | BAAT | c.981T>C (p.Gly327=) c.762+219T>C (n.762+219T>C) c.804+177T>C (n.804+177T>C) | |
9 | g.101362704A>T | CA466650385 | BAAT | c.981T>A (p.Gly327=) c.762+219T>A (n.762+219T>A) c.804+177T>A (n.804+177T>A) | |
9 | g.101362705C>A | CA374254478 | BAAT | c.980G>T (p.Gly327Val) c.762+218G>T (n.762+218G>T) c.804+176G>T (n.804+176G>T) | |
9 | g.101362705C= | CA1868206529 | BAAT | c.980G= (p.Gly327=) c.762+218G= (n.762+218G=) c.804+176G= (n.804+176G=) | |
9 | g.101362705C>G | CA374254479 | BAAT | c.980G>C (p.Gly327Ala) c.762+218G>C (n.762+218G>C) c.804+176G>C (n.804+176G>C) | |
9 | g.101362705C>T | CA374254480 | BAAT | c.980G>A (p.Gly327Asp) c.762+218G>A (n.762+218G>A) c.804+176G>A (n.804+176G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101362706C>A | CA374254481 | BAAT | c.979G>T (p.Gly327Cys) c.762+217G>T (n.762+217G>T) c.804+175G>T (n.804+175G>T) | |
9 | g.101362706C= | CA1868206531 | BAAT | c.979G= (p.Gly327=) c.762+217G= (n.762+217G=) c.804+175G= (n.804+175G=) | |
9 | g.101362706C>G | CA374254482 | BAAT | c.979G>C (p.Gly327Arg) c.762+217G>C (n.762+217G>C) c.804+175G>C (n.804+175G>C) | |
9 | g.101362706C>T | CA374254483 | BAAT | c.979G>A (p.Gly327Ser) c.762+217G>A (n.762+217G>A) c.804+175G>A (n.804+175G>A) | dbSNP gnomAD v4 |
9 | g.101362707T>A | CA374254484 | BAAT | c.978A>T (p.Glu326Asp) c.762+216A>T (n.762+216A>T) c.804+174A>T (n.804+174A>T) | |
9 | g.101362707T>C | CA466650389 | BAAT | c.978A>G (p.Glu326=) c.762+216A>G (n.762+216A>G) c.804+174A>G (n.804+174A>G) | |
9 | g.101362707T>G | CA374254485 | BAAT | c.978A>C (p.Glu326Asp) c.762+216A>C (n.762+216A>C) c.804+174A>C (n.804+174A>C) | |
9 | g.101362708T>A | CA374254486 | BAAT | c.977A>T (p.Glu326Val) c.762+215A>T (n.762+215A>T) c.804+173A>T (n.804+173A>T) | |
9 | g.101362708T>C | CA374254487 | BAAT | c.977A>G (p.Glu326Gly) c.762+215A>G (n.762+215A>G) c.804+173A>G (n.804+173A>G) | |
9 | g.101362708T>G | CA374254488 | BAAT | c.977A>C (p.Glu326Ala) c.762+215A>C (n.762+215A>C) c.804+173A>C (n.804+173A>C) | |
9 | g.101362709C>A | CA374254489 | BAAT | c.976G>T (p.Glu326Ter) c.762+214G>T (n.762+214G>T) c.804+172G>T (n.804+172G>T) | |
9 | g.101362709C>G | CA374254490 | BAAT | c.976G>C (p.Glu326Gln) c.762+214G>C (n.762+214G>C) c.804+172G>C (n.804+172G>C) | |
9 | g.101362709C>T | CA374254491 | BAAT | c.976G>A (p.Glu326Lys) c.762+214G>A (n.762+214G>A) c.804+172G>A (n.804+172G>A) | |
9 | g.101362710T>A | CA466650396 | BAAT | c.975A>T (p.Gly325=) c.762+213A>T (n.762+213A>T) c.804+171A>T (n.804+171A>T) | |
9 | g.101362710T>C | CA466650398 | BAAT | c.975A>G (p.Gly325=) c.762+213A>G (n.762+213A>G) c.804+171A>G (n.804+171A>G) | dbSNP |
9 | g.101362710T>G | CA466650399 | BAAT | c.975A>C (p.Gly325=) c.762+213A>C (n.762+213A>C) c.804+171A>C (n.804+171A>C) | |
9 | g.101362710T= | CA1868206533 | BAAT | c.975A= (p.Gly325=) c.762+213A= (n.762+213A=) c.804+171A= (n.804+171A=) | |
9 | g.101362711C>A | CA374254492 | BAAT | c.974G>T (p.Gly325Val) c.762+212G>T (n.762+212G>T) c.804+170G>T (n.804+170G>T) | |
9 | g.101362711C>G | CA374254493 | BAAT | c.974G>C (p.Gly325Ala) c.762+212G>C (n.762+212G>C) c.804+170G>C (n.804+170G>C) | |
9 | g.101362711C>T | CA374254494 | BAAT | c.974G>A (p.Gly325Glu) c.762+212G>A (n.762+212G>A) c.804+170G>A (n.804+170G>A) | gnomAD v4 |
9 | g.101362712C>A | CA374254495 | BAAT | c.973G>T (p.Gly325Ter) c.762+211G>T (n.762+211G>T) c.804+169G>T (n.804+169G>T) | dbSNP gnomAD v4 |
9 | g.101362712C= | CA1868206537 | BAAT | c.973G= (p.Gly325=) c.762+211G= (n.762+211G=) c.804+169G= (n.804+169G=) | |
9 | g.101362712C>G | CA374254496 | BAAT | c.973G>C (p.Gly325Arg) c.762+211G>C (n.762+211G>C) c.804+169G>C (n.804+169G>C) | |
9 | g.101362712C>T | CA374254497 | BAAT | c.973G>A (p.Gly325Arg) c.762+211G>A (n.762+211G>A) c.804+169G>A (n.804+169G>A) | |
9 | g.101362713T>A | CA466650405 | BAAT | c.972A>T (p.Val324=) c.762+210A>T (n.762+210A>T) c.804+168A>T (n.804+168A>T) | |
9 | g.101362713T>C | CA466650408 | BAAT | c.972A>G (p.Val324=) c.762+210A>G (n.762+210A>G) c.804+168A>G (n.804+168A>G) | |
9 | g.101362713T>G | CA466650409 | BAAT | c.972A>C (p.Val324=) c.762+210A>C (n.762+210A>C) c.804+168A>C (n.804+168A>C) | |
9 | g.101362714A>C | CA374254500 | BAAT | c.971T>G (p.Val324Gly) c.762+209T>G (n.762+209T>G) c.804+167T>G (n.804+167T>G) | |
9 | g.101362714A>G | CA374254499 | BAAT | c.971T>C (p.Val324Ala) c.762+209T>C (n.762+209T>C) c.804+167T>C (n.804+167T>C) | |
9 | g.101362714A>T | CA374254498 | BAAT | c.971T>A (p.Val324Glu) c.762+209T>A (n.762+209T>A) c.804+167T>A (n.804+167T>A) | |
9 | g.101362715C>A | CA374254501 | BAAT | c.970G>T (p.Val324Leu) c.762+208G>T (n.762+208G>T) c.804+166G>T (n.804+166G>T) | |
9 | g.101362715C>G | CA374254503 | BAAT | c.970G>C (p.Val324Leu) c.762+208G>C (n.762+208G>C) c.804+166G>C (n.804+166G>C) | |
9 | g.101362715C>T | CA374254502 | BAAT | c.970G>A (p.Val324Ile) c.762+208G>A (n.762+208G>A) c.804+166G>A (n.804+166G>A) | |
9 | g.101362716A>C | CA374254504 | BAAT | c.969T>G (p.Ile323Met) c.762+207T>G (n.762+207T>G) c.804+165T>G (n.804+165T>G) | |
9 | g.101362716A>G | CA466650414 | BAAT | c.969T>C (p.Ile323=) c.762+207T>C (n.762+207T>C) c.804+165T>C (n.804+165T>C) | |
9 | g.101362716A>T | CA466650415 | BAAT | c.969T>A (p.Ile323=) c.762+207T>A (n.762+207T>A) c.804+165T>A (n.804+165T>A) | |
9 | g.101362717A>C | CA374254507 | BAAT | c.968T>G (p.Ile323Ser) c.762+206T>G (n.762+206T>G) c.804+164T>G (n.804+164T>G) | |
9 | g.101362717A>G | CA374254505 | BAAT | c.968T>C (p.Ile323Thr) c.762+206T>C (n.762+206T>C) c.804+164T>C (n.804+164T>C) | gnomAD v4 |
9 | g.101362717A>T | CA374254506 | BAAT | c.968T>A (p.Ile323Asn) c.762+206T>A (n.762+206T>A) c.804+164T>A (n.804+164T>A) | |
9 | g.101362718T>A | CA374254508 | BAAT | c.967A>T (p.Ile323Phe) c.762+205A>T (n.762+205A>T) c.804+163A>T (n.804+163A>T) | |
9 | g.101362718T>C | CA341872 | BAAT | c.967A>G (p.Ile323Val) c.762+205A>G (n.762+205A>G) c.804+163A>G (n.804+163A>G) | ClinVar dbSNP |
9 | g.101362718T>G | CA374254509 | BAAT | c.967A>C (p.Ile323Leu) c.762+205A>C (n.762+205A>C) c.804+163A>C (n.804+163A>C) | |
9 | g.101362718T= | CA1868206547 | BAAT | c.967A= (p.Ile323=) c.762+205A= (n.762+205A=) c.804+163A= (n.804+163A=) | |
9 | g.101362719G>A | CA196948509 | BAAT | c.966C>T (p.Phe322=) c.762+204C>T (n.762+204C>T) c.804+162C>T (n.804+162C>T) | dbSNP gnomAD v4 COSMIC |
9 | g.101362719G>C | CA374254511 | BAAT | c.966C>G (p.Phe322Leu) c.762+204C>G (n.762+204C>G) c.804+162C>G (n.804+162C>G) | |
9 | g.101362719G= | CA1868206550 | BAAT | c.966C= (p.Phe322=) c.762+204C= (n.762+204C=) c.804+162C= (n.804+162C=) | |
9 | g.101362719G>T | CA374254510 | BAAT | c.966C>A (p.Phe322Leu) c.762+204C>A (n.762+204C>A) c.804+162C>A (n.804+162C>A) |