Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261887C>A | CA435424452 | CASR | c.852C>A (p.Val284=) c.369C>A (p.Val123=) c.264C>A (p.Val88=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261887C= | CA1397873158 | CASR | c.852C= (p.Val284=) c.369C= (p.Val123=) c.264C= (p.Val88=) | |
3 | g.122261887C>G | CA435424454 | CASR | c.852C>G (p.Val284=) c.369C>G (p.Val123=) c.264C>G (p.Val88=) | |
3 | g.122261887C>T | CA435424453 | CASR | c.852C>T (p.Val284=) c.369C>T (p.Val123=) c.264C>T (p.Val88=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261888C>A | CA435424455 | CASR | c.853C>A (p.Arg285=) c.370C>A (p.Arg124=) c.265C>A (p.Arg89=) | COSMIC |
3 | g.122261888C= | CA1397873161 | CASR | c.853C= (p.Arg285=) c.370C= (p.Arg124=) c.265C= (p.Arg89=) | |
3 | g.122261888C>G | CA354151494 | CASR | c.853C>G (p.Arg285Gly) c.370C>G (p.Arg124Gly) c.265C>G (p.Arg89Gly) | |
3 | g.122261888C>T | CA354151495 | CASR | c.853C>T (p.Arg285Trp) c.370C>T (p.Arg124Trp) c.265C>T (p.Arg89Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261889G>A | CA10582120 | CASR | c.854G>A (p.Arg285Gln) c.371G>A (p.Arg124Gln) c.266G>A (p.Arg89Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261889G>C | CA2569546 | CASR | c.854G>C (p.Arg285Pro) c.371G>C (p.Arg124Pro) c.266G>C (p.Arg89Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261889G= | CA1397873162 | CASR | c.854G= (p.Arg285=) c.371G= (p.Arg124=) c.266G= (p.Arg89=) | |
3 | g.122261889G>T | CA354151496 | CASR | c.854G>T (p.Arg285Leu) c.371G>T (p.Arg124Leu) c.266G>T (p.Arg89Leu) | gnomAD v4 |
3 | g.122261890G>A | CA435424457 | CASR | c.855G>A (p.Arg285=) c.372G>A (p.Arg124=) c.267G>A (p.Arg89=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261890G>C | CA435424458 | CASR | c.855G>C (p.Arg285=) c.372G>C (p.Arg124=) c.267G>C (p.Arg89=) | |
3 | g.122261890G= | CA1397873164 | CASR | c.855G= (p.Arg285=) c.372G= (p.Arg124=) c.267G= (p.Arg89=) | |
3 | g.122261890G>T | CA435424459 | CASR | c.855G>T (p.Arg285=) c.372G>T (p.Arg124=) c.267G>T (p.Arg89=) | ClinVar dbSNP |
3 | g.122261891C>A | CA354151497 | CASR | c.856C>A (p.Arg286Ser) c.373C>A (p.Arg125Ser) c.268C>A (p.Arg90Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122261891C= | CA1397873166 | CASR | c.856C= (p.Arg286=) c.373C= (p.Arg125=) c.268C= (p.Arg90=) | |
3 | g.122261891C>G | CA354151498 | CASR | c.856C>G (p.Arg286Gly) c.373C>G (p.Arg125Gly) c.268C>G (p.Arg90Gly) | |
3 | g.122261891C>T | CA16611296 | CASR | c.856C>T (p.Arg286Cys) c.373C>T (p.Arg125Cys) c.268C>T (p.Arg90Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261892G>A | CA82738600 | CASR | c.857G>A (p.Arg286His) c.374G>A (p.Arg125His) c.269G>A (p.Arg90His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261892G>C | CA354151500 | CASR | c.857G>C (p.Arg286Pro) c.374G>C (p.Arg125Pro) c.269G>C (p.Arg90Pro) | ClinVar dbSNP |
3 | g.122261892G= | CA1397873169 | CASR | c.857G= (p.Arg286=) c.374G= (p.Arg125=) c.269G= (p.Arg90=) | |
3 | g.122261892G>T | CA354151499 | CASR | c.857G>T (p.Arg286Leu) c.374G>T (p.Arg125Leu) c.269G>T (p.Arg90Leu) | |
3 | g.122261893C>A | CA435424483 | CASR | c.858C>A (p.Arg286=) c.375C>A (p.Arg125=) c.270C>A (p.Arg90=) | |
3 | g.122261893C>G | CA435424484 | CASR | c.858C>G (p.Arg286=) c.375C>G (p.Arg125=) c.270C>G (p.Arg90=) | |
3 | g.122261893C>T | CA435424485 | CASR | c.858C>T (p.Arg286=) c.375C>T (p.Arg125=) c.270C>T (p.Arg90=) | ClinVar dbSNP |
3 | g.122261894A>C | CA354151501 | CASR | c.859A>C (p.Asn287His) c.376A>C (p.Asn126His) c.271A>C (p.Asn91His) | ClinVar dbSNP |
3 | g.122261894A>G | CA354151503 | CASR | c.859A>G (p.Asn287Asp) c.376A>G (p.Asn126Asp) c.271A>G (p.Asn91Asp) | |
3 | g.122261894A>T | CA354151502 | CASR | c.859A>T (p.Asn287Tyr) c.376A>T (p.Asn126Tyr) c.271A>T (p.Asn91Tyr) | |
3 | g.122261895A= | CA1397873172 | CASR | c.860A= (p.Asn287=) c.377A= (p.Asn126=) c.272A= (p.Asn91=) | |
3 | g.122261895A>C | CA354151504 | CASR | c.860A>C (p.Asn287Thr) c.377A>C (p.Asn126Thr) c.272A>C (p.Asn91Thr) | |
3 | g.122261895A>G | CA354151506 | CASR | c.860A>G (p.Asn287Ser) c.377A>G (p.Asn126Ser) c.272A>G (p.Asn91Ser) | ClinVar dbSNP |
3 | g.122261895A>T | CA354151505 | CASR | c.860A>T (p.Asn287Ile) c.377A>T (p.Asn126Ile) c.272A>T (p.Asn91Ile) | |
3 | g.122261896T>A | CA354151507 | CASR | c.861T>A (p.Asn287Lys) c.378T>A (p.Asn126Lys) c.273T>A (p.Asn91Lys) | |
3 | g.122261896T>C | CA2569547 | CASR | c.861T>C (p.Asn287=) c.378T>C (p.Asn126=) c.273T>C (p.Asn91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261896T>G | CA354151508 | CASR | c.861T>G (p.Asn287Lys) c.378T>G (p.Asn126Lys) c.273T>G (p.Asn91Lys) | |
3 | g.122261896T= | CA1397873173 | CASR | c.861T= (p.Asn287=) c.378T= (p.Asn126=) c.273T= (p.Asn91=) | |
3 | g.122261897A>C | CA354151509 | CASR | c.862A>C (p.Ile288Leu) c.379A>C (p.Ile127Leu) c.274A>C (p.Ile92Leu) | |
3 | g.122261897A>G | CA354151510 | CASR | c.862A>G (p.Ile288Val) c.379A>G (p.Ile127Val) c.274A>G (p.Ile92Val) | ClinVar dbSNP gnomAD v4 |
3 | g.122261897A>T | CA354151511 | CASR | c.862A>T (p.Ile288Phe) c.379A>T (p.Ile127Phe) c.274A>T (p.Ile92Phe) | |
3 | g.122261898T>A | CA354151512 | CASR | c.863T>A (p.Ile288Asn) c.380T>A (p.Ile127Asn) c.275T>A (p.Ile92Asn) | |
3 | g.122261898T>C | CA354151513 | CASR | c.863T>C (p.Ile288Thr) c.380T>C (p.Ile127Thr) c.275T>C (p.Ile92Thr) | |
3 | g.122261898T>G | CA354151514 | CASR | c.863T>G (p.Ile288Ser) c.380T>G (p.Ile127Ser) c.275T>G (p.Ile92Ser) | |
3 | g.122261898_122261900delinsTCA | CA1397873174 | CASR | c.863_865delinsTCA (p.Ile288=) c.380_382delinsTCA (p.Ile127=) c.275_277delinsTCA (p.Ile92=) | |
3 | g.122261899C>A | CA435424492 | CASR | c.864C>A (p.Ile288=) c.381C>A (p.Ile127=) c.276C>A (p.Ile92=) | |
3 | g.122261899C= | CA1397873175 | CASR | c.864C= (p.Ile288=) c.381C= (p.Ile127=) c.276C= (p.Ile92=) | |
3 | g.122261899C>G | CA354151515 | CASR | c.864C>G (p.Ile288Met) c.381C>G (p.Ile127Met) c.276C>G (p.Ile92Met) | |
3 | g.122261899C>T | CA435424493 | CASR | c.864C>T (p.Ile288=) c.381C>T (p.Ile127=) c.276C>T (p.Ile92=) | ClinVar dbSNP COSMIC |
3 | g.122261900_122261901del | CA545962748 | CASR | c.865_866del (p.Thr289GlyfsTer?) c.382_383del (p.Thr128GlyfsTer?) c.277_278del (p.Thr93GlyfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261900A= | CA1397873178 | CASR | c.865A= (p.Thr289=) c.382A= (p.Thr128=) c.277A= (p.Thr93=) | |
3 | g.122261900A>C | CA354151516 | CASR | c.865A>C (p.Thr289Pro) c.382A>C (p.Thr128Pro) c.277A>C (p.Thr93Pro) | |
3 | g.122261900A>G | CA354151517 | CASR | c.865A>G (p.Thr289Ala) c.382A>G (p.Thr128Ala) c.277A>G (p.Thr93Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122261900A>T | CA354151518 | CASR | c.865A>T (p.Thr289Ser) c.382A>T (p.Thr128Ser) c.277A>T (p.Thr93Ser) | |
3 | g.122261901del | CA2667224711 | CASR | c.866del (p.Thr289ArgfsTer16) c.383del (p.Thr128ArgfsTer16) c.278del (p.Thr93ArgfsTer16) | gnomAD v4 |
3 | g.122261901C>A | CA354151519 | CASR | c.866C>A (p.Thr289Lys) c.383C>A (p.Thr128Lys) c.278C>A (p.Thr93Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261901C= | CA1397873181 | CASR | c.866C= (p.Thr289=) c.383C= (p.Thr128=) c.278C= (p.Thr93=) | |
3 | g.122261901C>G | CA354151520 | CASR | c.866C>G (p.Thr289Arg) c.383C>G (p.Thr128Arg) c.278C>G (p.Thr93Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122261901C>T | CA2569548 | CASR | c.866C>T (p.Thr289Met) c.383C>T (p.Thr128Met) c.278C>T (p.Thr93Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261902G>A | CA2569549 | CASR | c.867G>A (p.Thr289=) c.384G>A (p.Thr128=) c.279G>A (p.Thr93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261902G>C | CA435424495 | CASR | c.867G>C (p.Thr289=) c.384G>C (p.Thr128=) c.279G>C (p.Thr93=) | ClinVar |
3 | g.122261902G= | CA1397873183 | CASR | c.867G= (p.Thr289=) c.384G= (p.Thr128=) c.279G= (p.Thr93=) | |
3 | g.122261902G>T | CA435424496 | CASR | c.867G>T (p.Thr289=) c.384G>T (p.Thr128=) c.279G>T (p.Thr93=) | ClinVar COSMIC |
3 | g.122261903G>A | CA354151521 | CASR | c.868G>A (p.Gly290Ser) c.385G>A (p.Gly129Ser) c.280G>A (p.Gly94Ser) | COSMIC |
3 | g.122261903G>C | CA354151522 | CASR | c.868G>C (p.Gly290Arg) c.385G>C (p.Gly129Arg) c.280G>C (p.Gly94Arg) | |
3 | g.122261903G>T | CA354151523 | CASR | c.868G>T (p.Gly290Cys) c.385G>T (p.Gly129Cys) c.280G>T (p.Gly94Cys) | |
3 | g.122261904G>A | CA354151524 | CASR | c.869G>A (p.Gly290Asp) c.386G>A (p.Gly129Asp) c.281G>A (p.Gly94Asp) | ClinVar |
3 | g.122261904G>C | CA354151525 | CASR | c.869G>C (p.Gly290Ala) c.386G>C (p.Gly129Ala) c.281G>C (p.Gly94Ala) | |
3 | g.122261904G>T | CA354151526 | CASR | c.869G>T (p.Gly290Val) c.386G>T (p.Gly129Val) c.281G>T (p.Gly94Val) | |
3 | g.122261905C>A | CA435424499 | CASR | c.870C>A (p.Gly290=) c.387C>A (p.Gly129=) c.282C>A (p.Gly94=) | |
3 | g.122261905C= | CA1397873186 | CASR | c.870C= (p.Gly290=) c.387C= (p.Gly129=) c.282C= (p.Gly94=) | |
3 | g.122261905C>G | CA435424500 | CASR | c.870C>G (p.Gly290=) c.387C>G (p.Gly129=) c.282C>G (p.Gly94=) | |
3 | g.122261905C>T | CA435424501 | CASR | c.870C>T (p.Gly290=) c.387C>T (p.Gly129=) c.282C>T (p.Gly94=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261906A>C | CA354151527 | CASR | c.871A>C (p.Lys291Gln) c.388A>C (p.Lys130Gln) c.283A>C (p.Lys95Gln) | |
3 | g.122261906A>G | CA354151528 | CASR | c.871A>G (p.Lys291Glu) c.388A>G (p.Lys130Glu) c.283A>G (p.Lys95Glu) | |
3 | g.122261906A>T | CA354151529 | CASR | c.871A>T (p.Lys291Ter) c.388A>T (p.Lys130Ter) c.283A>T (p.Lys95Ter) | |
3 | g.122261907A>C | CA354151530 | CASR | c.872A>C (p.Lys291Thr) c.389A>C (p.Lys130Thr) c.284A>C (p.Lys95Thr) | |
3 | g.122261907A>G | CA354151531 | CASR | c.872A>G (p.Lys291Arg) c.389A>G (p.Lys130Arg) c.284A>G (p.Lys95Arg) | |
3 | g.122261907A>T | CA354151532 | CASR | c.872A>T (p.Lys291Met) c.389A>T (p.Lys130Met) c.284A>T (p.Lys95Met) | |
3 | g.122261908G>A | CA435424506 | CASR | c.873G>A (p.Lys291=) c.390G>A (p.Lys130=) c.285G>A (p.Lys95=) | |
3 | g.122261908G>C | CA2569550 | CASR | c.873G>C (p.Lys291Asn) c.390G>C (p.Lys130Asn) c.285G>C (p.Lys95Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261908G= | CA1397873188 | CASR | c.873G= (p.Lys291=) c.390G= (p.Lys130=) c.285G= (p.Lys95=) | |
3 | g.122261908G>T | CA354151533 | CASR | c.873G>T (p.Lys291Asn) c.390G>T (p.Lys130Asn) c.285G>T (p.Lys95Asn) | |
3 | g.122261909A>C | CA354151534 | CASR | c.874A>C (p.Ile292Leu) c.391A>C (p.Ile131Leu) c.286A>C (p.Ile96Leu) | |
3 | g.122261909A>G | CA354151536 | CASR | c.874A>G (p.Ile292Val) c.391A>G (p.Ile131Val) c.286A>G (p.Ile96Val) | |
3 | g.122261909A>T | CA354151535 | CASR | c.874A>T (p.Ile292Phe) c.391A>T (p.Ile131Phe) c.286A>T (p.Ile96Phe) | |
3 | g.122261910T>A | CA354151537 | CASR | c.875T>A (p.Ile292Asn) c.392T>A (p.Ile131Asn) c.287T>A (p.Ile96Asn) | |
3 | g.122261910T>C | CA354151538 | CASR | c.875T>C (p.Ile292Thr) c.392T>C (p.Ile131Thr) c.287T>C (p.Ile96Thr) | |
3 | g.122261910T>G | CA354151539 | CASR | c.875T>G (p.Ile292Ser) c.392T>G (p.Ile131Ser) c.287T>G (p.Ile96Ser) | |
3 | g.122261911C>A | CA435424507 | CASR | c.876C>A (p.Ile292=) c.393C>A (p.Ile131=) c.288C>A (p.Ile96=) | ClinVar |
3 | g.122261911C= | CA1397873190 | CASR | c.876C= (p.Ile292=) c.393C= (p.Ile131=) c.288C= (p.Ile96=) | |
3 | g.122261911C>G | CA354151540 | CASR | c.876C>G (p.Ile292Met) c.393C>G (p.Ile131Met) c.288C>G (p.Ile96Met) | |
3 | g.122261911C>T | CA2569551 | CASR | c.876C>T (p.Ile292=) c.393C>T (p.Ile131=) c.288C>T (p.Ile96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261912T>A | CA354151541 | CASR | c.877T>A (p.Trp293Arg) c.394T>A (p.Trp132Arg) c.289T>A (p.Trp97Arg) | |
3 | g.122261912T>C | CA354151542 | CASR | c.877T>C (p.Trp293Arg) c.394T>C (p.Trp132Arg) c.289T>C (p.Trp97Arg) | |
3 | g.122261912T>G | CA354151543 | CASR | c.877T>G (p.Trp293Gly) c.394T>G (p.Trp132Gly) c.289T>G (p.Trp97Gly) | |
3 | g.122261913G>A | CA354151544 | CASR | c.878G>A (p.Trp293Ter) c.395G>A (p.Trp132Ter) c.290G>A (p.Trp97Ter) | ClinVar gnomAD v4 |
3 | g.122261913G>C | CA354151545 | CASR | c.878G>C (p.Trp293Ser) c.395G>C (p.Trp132Ser) c.290G>C (p.Trp97Ser) | |
3 | g.122261913G>T | CA354151546 | CASR | c.878G>T (p.Trp293Leu) c.395G>T (p.Trp132Leu) c.290G>T (p.Trp97Leu) | |
3 | g.122261914G>A | CA354151548 | CASR | c.879G>A (p.Trp293Ter) c.396G>A (p.Trp132Ter) c.291G>A (p.Trp97Ter) | |
3 | g.122261914G>C | CA354151547 | CASR | c.879G>C (p.Trp293Cys) c.396G>C (p.Trp132Cys) c.291G>C (p.Trp97Cys) | |
3 | g.122261914G= | CA1397873192 | CASR | c.879G= (p.Trp293=) c.396G= (p.Trp132=) c.291G= (p.Trp97=) | |
3 | g.122261914G>T | CA2569552 | CASR | c.879G>T (p.Trp293Cys) c.396G>T (p.Trp132Cys) c.291G>T (p.Trp97Cys) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122261915C>A | CA354151549 | CASR | c.880C>A (p.Leu294Met) c.397C>A (p.Leu133Met) c.292C>A (p.Leu98Met) | |
3 | g.122261915C= | CA1397873193 | CASR | c.880C= (p.Leu294=) c.397C= (p.Leu133=) c.292C= (p.Leu98=) | |
3 | g.122261915C>G | CA354151550 | CASR | c.880C>G (p.Leu294Val) c.397C>G (p.Leu133Val) c.292C>G (p.Leu98Val) | |
3 | g.122261915C>T | CA2569553 | CASR | c.880C>T (p.Leu294=) c.397C>T (p.Leu133=) c.292C>T (p.Leu98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261916T>A | CA354151551 | CASR | c.881T>A (p.Leu294Gln) c.398T>A (p.Leu133Gln) c.293T>A (p.Leu98Gln) | |
3 | g.122261916T>C | CA354151552 | CASR | c.881T>C (p.Leu294Pro) c.398T>C (p.Leu133Pro) c.293T>C (p.Leu98Pro) | |
3 | g.122261916T>G | CA354151553 | CASR | c.881T>G (p.Leu294Arg) c.398T>G (p.Leu133Arg) c.293T>G (p.Leu98Arg) | |
3 | g.122261917G>A | CA2569554 | CASR | c.882G>A (p.Leu294=) c.399G>A (p.Leu133=) c.294G>A (p.Leu98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261917G>C | CA435424521 | CASR | c.882G>C (p.Leu294=) c.399G>C (p.Leu133=) c.294G>C (p.Leu98=) | |
3 | g.122261917G= | CA1397873194 | CASR | c.882G= (p.Leu294=) c.399G= (p.Leu133=) c.294G= (p.Leu98=) | |
3 | g.122261917G>T | CA435424519 | CASR | c.882G>T (p.Leu294=) c.399G>T (p.Leu133=) c.294G>T (p.Leu98=) | |
3 | g.122261924_122261938del | CA435424517 | CASR | c.889_903del (p.Glu297_Ser301del) c.406_420del (p.Glu136_Ser140del) c.301_315del (p.Glu101_Ser105del) | |
3 | g.122261918G>A | CA354151554 | CASR | c.883G>A (p.Ala295Thr) c.400G>A (p.Ala134Thr) c.295G>A (p.Ala99Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261918G>C | CA354151555 | CASR | c.883G>C (p.Ala295Pro) c.400G>C (p.Ala134Pro) c.295G>C (p.Ala99Pro) | |
3 | g.122261918G= | CA1397873196 | CASR | c.883G= (p.Ala295=) c.400G= (p.Ala134=) c.295G= (p.Ala99=) | |
3 | g.122261918G>T | CA354151556 | CASR | c.883G>T (p.Ala295Ser) c.400G>T (p.Ala134Ser) c.295G>T (p.Ala99Ser) | COSMIC |
3 | g.122261919C>A | CA354151557 | CASR | c.884C>A (p.Ala295Asp) c.401C>A (p.Ala134Asp) c.296C>A (p.Ala99Asp) | |
3 | g.122261919C= | CA1397873197 | CASR | c.884C= (p.Ala295=) c.401C= (p.Ala134=) c.296C= (p.Ala99=) | |
3 | g.122261919C>G | CA354151558 | CASR | c.884C>G (p.Ala295Gly) c.401C>G (p.Ala134Gly) c.296C>G (p.Ala99Gly) | ClinVar dbSNP |
3 | g.122261919C>T | CA354151559 | CASR | c.884C>T (p.Ala295Val) c.401C>T (p.Ala134Val) c.296C>T (p.Ala99Val) | ClinVar |
3 | g.122261920C>A | CA82738613 | CASR | c.885C>A (p.Ala295=) c.402C>A (p.Ala134=) c.297C>A (p.Ala99=) | dbSNP |
3 | g.122261920C= | CA1397873199 | CASR | c.885C= (p.Ala295=) c.402C= (p.Ala134=) c.297C= (p.Ala99=) | |
3 | g.122261920C>G | CA435424525 | CASR | c.885C>G (p.Ala295=) c.402C>G (p.Ala134=) c.297C>G (p.Ala99=) | |
3 | g.122261920C>T | CA2569555 | CASR | c.885C>T (p.Ala295=) c.402C>T (p.Ala134=) c.297C>T (p.Ala99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261921A>C | CA354151562 | CASR | c.886A>C (p.Ser296Arg) c.403A>C (p.Ser135Arg) c.298A>C (p.Ser100Arg) | COSMIC |
3 | g.122261921A>G | CA354151560 | CASR | c.886A>G (p.Ser296Gly) c.403A>G (p.Ser135Gly) c.298A>G (p.Ser100Gly) | |
3 | g.122261921A>T | CA354151561 | CASR | c.886A>T (p.Ser296Cys) c.403A>T (p.Ser135Cys) c.298A>T (p.Ser100Cys) | dbSNP |
3 | g.122261922G>A | CA354151563 | CASR | c.887G>A (p.Ser296Asn) c.404G>A (p.Ser135Asn) c.299G>A (p.Ser100Asn) | |
3 | g.122261922G>C | CA354151564 | CASR | c.887G>C (p.Ser296Thr) c.404G>C (p.Ser135Thr) c.299G>C (p.Ser100Thr) | |
3 | g.122261922G>T | CA354151565 | CASR | c.887G>T (p.Ser296Ile) c.404G>T (p.Ser135Ile) c.299G>T (p.Ser100Ile) | |
3 | g.122261923C>A | CA354151566 | CASR | c.888C>A (p.Ser296Arg) c.405C>A (p.Ser135Arg) c.300C>A (p.Ser100Arg) | |
3 | g.122261923C= | CA1397873200 | CASR | c.888C= (p.Ser296=) c.405C= (p.Ser135=) c.300C= (p.Ser100=) | |
3 | g.122261923C>G | CA354151567 | CASR | c.888C>G (p.Ser296Arg) c.405C>G (p.Ser135Arg) c.300C>G (p.Ser100Arg) | ClinVar gnomAD v4 |
3 | g.122261923C>T | CA2569556 | CASR | c.888C>T (p.Ser296=) c.405C>T (p.Ser135=) c.300C>T (p.Ser100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261924G>A | CA119469 | CASR | c.889G>A (p.Glu297Lys) c.406G>A (p.Glu136Lys) c.301G>A (p.Glu101Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.122261924G>C | CA354151569 | CASR | c.889G>C (p.Glu297Gln) c.406G>C (p.Glu136Gln) c.301G>C (p.Glu101Gln) | ClinVar dbSNP |
3 | g.122261924G= | CA1397873202 | CASR | c.889G= (p.Glu297=) c.406G= (p.Glu136=) c.301G= (p.Glu101=) | |
3 | g.122261924G>T | CA354151568 | CASR | c.889G>T (p.Glu297Ter) c.406G>T (p.Glu136Ter) c.301G>T (p.Glu101Ter) | |
3 | g.122261925A>C | CA354151570 | CASR | c.890A>C (p.Glu297Ala) c.407A>C (p.Glu136Ala) c.302A>C (p.Glu101Ala) | |
3 | g.122261925A>G | CA354151571 | CASR | c.890A>G (p.Glu297Gly) c.407A>G (p.Glu136Gly) c.302A>G (p.Glu101Gly) | |
3 | g.122261925A>T | CA354151572 | CASR | c.890A>T (p.Glu297Val) c.407A>T (p.Glu136Val) c.302A>T (p.Glu101Val) | |
3 | g.122261926G>A | CA435424528 | CASR | c.891G>A (p.Glu297=) c.408G>A (p.Glu136=) c.303G>A (p.Glu101=) | gnomAD v4 |
3 | g.122261926G>C | CA354151573 | CASR | c.891G>C (p.Glu297Asp) c.408G>C (p.Glu136Asp) c.303G>C (p.Glu101Asp) | |
3 | g.122261926G= | CA1397873204 | CASR | c.891G= (p.Glu297=) c.408G= (p.Glu136=) c.303G= (p.Glu101=) | |
3 | g.122261926G>T | CA354151574 | CASR | c.891G>T (p.Glu297Asp) c.408G>T (p.Glu136Asp) c.303G>T (p.Glu101Asp) | ClinVar dbSNP |
3 | g.122261927G>A | CA354151575 | CASR | c.892G>A (p.Ala298Thr) c.409G>A (p.Ala137Thr) c.304G>A (p.Ala102Thr) | |
3 | g.122261927G>C | CA354151577 | CASR | c.892G>C (p.Ala298Pro) c.409G>C (p.Ala137Pro) c.304G>C (p.Ala102Pro) | |
3 | g.122261927G>T | CA354151576 | CASR | c.892G>T (p.Ala298Ser) c.409G>T (p.Ala137Ser) c.304G>T (p.Ala102Ser) | |
3 | g.122261928C>A | CA354151578 | CASR | c.893C>A (p.Ala298Asp) c.410C>A (p.Ala137Asp) c.305C>A (p.Ala102Asp) | ClinVar |
3 | g.122261928C= | CA1397873206 | CASR | c.893C= (p.Ala298=) c.410C= (p.Ala137=) c.305C= (p.Ala102=) | |
3 | g.122261928C>G | CA354151579 | CASR | c.893C>G (p.Ala298Gly) c.410C>G (p.Ala137Gly) c.305C>G (p.Ala102Gly) | |
3 | g.122261928C>T | CA16617816 | CASR | c.893C>T (p.Ala298Val) c.410C>T (p.Ala137Val) c.305C>T (p.Ala102Val) | ClinVar dbSNP |
3 | g.122261929C>A | CA435424530 | CASR | c.894C>A (p.Ala298=) c.411C>A (p.Ala137=) c.306C>A (p.Ala102=) | |
3 | g.122261929C= | CA1397873207 | CASR | c.894C= (p.Ala298=) c.411C= (p.Ala137=) c.306C= (p.Ala102=) | |
3 | g.122261929C>G | CA435424531 | CASR | c.894C>G (p.Ala298=) c.411C>G (p.Ala137=) c.306C>G (p.Ala102=) | ClinVar dbSNP |
3 | g.122261929C>T | CA435424532 | CASR | c.894C>T (p.Ala298=) c.411C>T (p.Ala137=) c.306C>T (p.Ala102=) | |
3 | g.122261930T>A | CA354151580 | CASR | c.895T>A (p.Trp299Arg) c.412T>A (p.Trp138Arg) c.307T>A (p.Trp103Arg) | |
3 | g.122261930T>C | CA354151581 | CASR | c.895T>C (p.Trp299Arg) c.412T>C (p.Trp138Arg) c.307T>C (p.Trp103Arg) | |
3 | g.122261930T>G | CA354151582 | CASR | c.895T>G (p.Trp299Gly) c.412T>G (p.Trp138Gly) c.307T>G (p.Trp103Gly) | |
3 | g.122261931G>A | CA354151583 | CASR | c.896G>A (p.Trp299Ter) c.413G>A (p.Trp138Ter) c.308G>A (p.Trp103Ter) | gnomAD v4 |
3 | g.122261931G>C | CA354151584 | CASR | c.896G>C (p.Trp299Ser) c.413G>C (p.Trp138Ser) c.308G>C (p.Trp103Ser) | |
3 | g.122261931G>T | CA354151585 | CASR | c.896G>T (p.Trp299Leu) c.413G>T (p.Trp138Leu) c.308G>T (p.Trp103Leu) | |
3 | g.122261932G>A | CA354151586 | CASR | c.897G>A (p.Trp299Ter) c.414G>A (p.Trp138Ter) c.309G>A (p.Trp103Ter) | |
3 | g.122261932G>C | CA354151587 | CASR | c.897G>C (p.Trp299Cys) c.414G>C (p.Trp138Cys) c.309G>C (p.Trp103Cys) | |
3 | g.122261932G>T | CA354151588 | CASR | c.897G>T (p.Trp299Cys) c.414G>T (p.Trp138Cys) c.309G>T (p.Trp103Cys) | |
3 | g.122261932_122261933insTGCTCATCATTGGGGATGGTTCGGA | CA2758181237 | CASR | c.897_898insTGCTCATCATTGGGGATGGTTCGGA (p.Ala300CysfsTer?) c.414_415insTGCTCATCATTGGGGATGGTTCGGA (p.Ala139CysfsTer?) c.309_310insTGCTCATCATTGGGGATGGTTCGGA (p.Ala104CysfsTer?) | |
3 | g.122261933G>A | CA354151589 | CASR | c.898G>A (p.Ala300Thr) c.415G>A (p.Ala139Thr) c.310G>A (p.Ala104Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261933G>C | CA354151591 | CASR | c.898G>C (p.Ala300Pro) c.415G>C (p.Ala139Pro) c.310G>C (p.Ala104Pro) | |
3 | g.122261933G= | CA1397873208 | CASR | c.898G= (p.Ala300=) c.415G= (p.Ala139=) c.310G= (p.Ala104=) | |
3 | g.122261933G>T | CA354151590 | CASR | c.898G>T (p.Ala300Ser) c.415G>T (p.Ala139Ser) c.310G>T (p.Ala104Ser) | |
3 | g.122261934C>A | CA354151592 | CASR | c.899C>A (p.Ala300Asp) c.416C>A (p.Ala139Asp) c.311C>A (p.Ala104Asp) | |
3 | g.122261934C>G | CA354151593 | CASR | c.899C>G (p.Ala300Gly) c.416C>G (p.Ala139Gly) c.311C>G (p.Ala104Gly) | |
3 | g.122261934C>T | CA354151594 | CASR | c.899C>T (p.Ala300Val) c.416C>T (p.Ala139Val) c.311C>T (p.Ala104Val) | COSMIC |
3 | g.122261935C>A | CA435424541 | CASR | c.900C>A (p.Ala300=) c.417C>A (p.Ala139=) c.312C>A (p.Ala104=) | |
3 | g.122261935C>G | CA435424542 | CASR | c.900C>G (p.Ala300=) c.417C>G (p.Ala139=) c.312C>G (p.Ala104=) | ClinVar dbSNP |
3 | g.122261935C>T | CA435424543 | CASR | c.900C>T (p.Ala300=) c.417C>T (p.Ala139=) c.312C>T (p.Ala104=) | COSMIC |
3 | g.122261936A>C | CA354151595 | CASR | c.901A>C (p.Ser301Arg) c.418A>C (p.Ser140Arg) c.313A>C (p.Ser105Arg) | |
3 | g.122261936A>G | CA354151596 | CASR | c.901A>G (p.Ser301Gly) c.418A>G (p.Ser140Gly) c.313A>G (p.Ser105Gly) | |
3 | g.122261936A>T | CA354151597 | CASR | c.901A>T (p.Ser301Cys) c.418A>T (p.Ser140Cys) c.313A>T (p.Ser105Cys) | ClinVar |
3 | g.122261937G>A | CA354151600 | CASR | c.902G>A (p.Ser301Asn) c.419G>A (p.Ser140Asn) c.314G>A (p.Ser105Asn) | |
3 | g.122261937G>C | CA354151598 | CASR | c.902G>C (p.Ser301Thr) c.419G>C (p.Ser140Thr) c.314G>C (p.Ser105Thr) | dbSNP |
3 | g.122261937G= | CA1397873210 | CASR | c.902G= (p.Ser301=) c.419G= (p.Ser140=) c.314G= (p.Ser105=) | |
3 | g.122261937G>T | CA354151599 | CASR | c.902G>T (p.Ser301Ile) c.419G>T (p.Ser140Ile) c.314G>T (p.Ser105Ile) | ClinVar |
3 | g.122261938del | CA2580068640 | CASR | c.903del (p.Ser302ProfsTer3) c.420del (p.Ser141ProfsTer3) c.315del (p.Ser106ProfsTer3) | ClinVar dbSNP |
3 | g.122261938C>A | CA354151601 | CASR | c.903C>A (p.Ser301Arg) c.420C>A (p.Ser140Arg) c.315C>A (p.Ser105Arg) | |
3 | g.122261938C>G | CA354151602 | CASR | c.903C>G (p.Ser301Arg) c.420C>G (p.Ser140Arg) c.315C>G (p.Ser105Arg) | |
3 | g.122261938C>T | CA435424547 | CASR | c.903C>T (p.Ser301=) c.420C>T (p.Ser140=) c.315C>T (p.Ser105=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261939T>A | CA354151603 | CASR | c.904T>A (p.Ser302Thr) c.421T>A (p.Ser141Thr) c.316T>A (p.Ser106Thr) | ClinVar dbSNP |
3 | g.122261939T>C | CA354151604 | CASR | c.904T>C (p.Ser302Pro) c.421T>C (p.Ser141Pro) c.316T>C (p.Ser106Pro) | |
3 | g.122261939T>G | CA354151605 | CASR | c.904T>G (p.Ser302Ala) c.421T>G (p.Ser141Ala) c.316T>G (p.Ser106Ala) | |
3 | g.122261939T= | CA1397873211 | CASR | c.904T= (p.Ser302=) c.421T= (p.Ser141=) c.316T= (p.Ser106=) | |
3 | g.122261940C>A | CA354151606 | CASR | c.905C>A (p.Ser302Tyr) c.422C>A (p.Ser141Tyr) c.317C>A (p.Ser106Tyr) | ClinVar dbSNP |
3 | g.122261940C>G | CA354151608 | CASR | c.905C>G (p.Ser302Cys) c.422C>G (p.Ser141Cys) c.317C>G (p.Ser106Cys) | ClinVar |
3 | g.122261940C>T | CA354151607 | CASR | c.905C>T (p.Ser302Phe) c.422C>T (p.Ser141Phe) c.317C>T (p.Ser106Phe) | COSMIC |
3 | g.122261941C>A | CA435424553 | CASR | c.906C>A (p.Ser302=) c.423C>A (p.Ser141=) c.318C>A (p.Ser106=) | ClinVar |
3 | g.122261941C= | CA1397873213 | CASR | c.906C= (p.Ser302=) c.423C= (p.Ser141=) c.318C= (p.Ser106=) | |
3 | g.122261941C>G | CA435424551 | CASR | c.906C>G (p.Ser302=) c.423C>G (p.Ser141=) c.318C>G (p.Ser106=) | dbSNP |
3 | g.122261941C>T | CA2569557 | CASR | c.906C>T (p.Ser302=) c.423C>T (p.Ser141=) c.318C>T (p.Ser106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261942T>A | CA354151609 | CASR | c.907T>A (p.Ser303Thr) c.424T>A (p.Ser142Thr) c.319T>A (p.Ser107Thr) | |
3 | g.122261942T>C | CA354151610 | CASR | c.907T>C (p.Ser303Pro) c.424T>C (p.Ser142Pro) c.319T>C (p.Ser107Pro) | |
3 | g.122261942T>G | CA354151611 | CASR | c.907T>G (p.Ser303Ala) c.424T>G (p.Ser142Ala) c.319T>G (p.Ser107Ala) | |
3 | g.122261943C>A | CA354151612 | CASR | c.908C>A (p.Ser303Tyr) c.425C>A (p.Ser142Tyr) c.320C>A (p.Ser107Tyr) | |
3 | g.122261943C>G | CA354151613 | CASR | c.908C>G (p.Ser303Cys) c.425C>G (p.Ser142Cys) c.320C>G (p.Ser107Cys) | |
3 | g.122261943C>T | CA354151614 | CASR | c.908C>T (p.Ser303Phe) c.425C>T (p.Ser142Phe) c.320C>T (p.Ser107Phe) | COSMIC |
3 | g.122261944C>A | CA435424560 | CASR | c.909C>A (p.Ser303=) c.426C>A (p.Ser142=) c.321C>A (p.Ser107=) | |
3 | g.122261944C= | CA1397873215 | CASR | c.909C= (p.Ser303=) c.426C= (p.Ser142=) c.321C= (p.Ser107=) | |
3 | g.122261944C>G | CA2569558 | CASR | c.909C>G (p.Ser303=) c.426C>G (p.Ser142=) c.321C>G (p.Ser107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261944C>T | CA435424561 | CASR | c.909C>T (p.Ser303=) c.426C>T (p.Ser142=) c.321C>T (p.Ser107=) | COSMIC |
3 | g.122261945C>A | CA354151615 | CASR | c.910C>A (p.Leu304Met) c.427C>A (p.Leu143Met) c.322C>A (p.Leu108Met) | |
3 | g.122261945C>G | CA354151616 | CASR | c.910C>G (p.Leu304Val) c.427C>G (p.Leu143Val) c.322C>G (p.Leu108Val) | gnomAD v4 |
3 | g.122261945C>T | CA435424564 | CASR | c.910C>T (p.Leu304=) c.427C>T (p.Leu143=) c.322C>T (p.Leu108=) | ClinVar gnomAD v4 |
3 | g.122261946T>A | CA354151617 | CASR | c.911T>A (p.Leu304Gln) c.428T>A (p.Leu143Gln) c.323T>A (p.Leu108Gln) | |
3 | g.122261946T>C | CA354151619 | CASR | c.911T>C (p.Leu304Pro) c.428T>C (p.Leu143Pro) c.323T>C (p.Leu108Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261946T>G | CA354151618 | CASR | c.911T>G (p.Leu304Arg) c.428T>G (p.Leu143Arg) c.323T>G (p.Leu108Arg) | |
3 | g.122261946T= | CA1397873217 | CASR | c.911T= (p.Leu304=) c.428T= (p.Leu143=) c.323T= (p.Leu108=) | |
3 | g.122261947G>A | CA435424566 | CASR | c.912G>A (p.Leu304=) c.429G>A (p.Leu143=) c.324G>A (p.Leu108=) | |
3 | g.122261947G>C | CA435424568 | CASR | c.912G>C (p.Leu304=) c.429G>C (p.Leu143=) c.324G>C (p.Leu108=) | |
3 | g.122261947G>T | CA435424569 | CASR | c.912G>T (p.Leu304=) c.429G>T (p.Leu143=) c.324G>T (p.Leu108=) | |
3 | g.122261948A= | CA1397873219 | CASR | c.913A= (p.Ile305=) c.430A= (p.Ile144=) c.325A= (p.Ile109=) | |
3 | g.122261948A>C | CA354151620 | CASR | c.913A>C (p.Ile305Leu) c.430A>C (p.Ile144Leu) c.325A>C (p.Ile109Leu) | |
3 | g.122261948A>G | CA2569559 | CASR | c.913A>G (p.Ile305Val) c.430A>G (p.Ile144Val) c.325A>G (p.Ile109Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.122261948A>T | CA354151621 | CASR | c.913A>T (p.Ile305Phe) c.430A>T (p.Ile144Phe) c.325A>T (p.Ile109Phe) | gnomAD v4 |
3 | g.122261949T>A | CA354151622 | CASR | c.914T>A (p.Ile305Asn) c.431T>A (p.Ile144Asn) c.326T>A (p.Ile109Asn) | |
3 | g.122261949T>C | CA354151623 | CASR | c.914T>C (p.Ile305Thr) c.431T>C (p.Ile144Thr) c.326T>C (p.Ile109Thr) | |
3 | g.122261949T>G | CA354151624 | CASR | c.914T>G (p.Ile305Ser) c.431T>G (p.Ile144Ser) c.326T>G (p.Ile109Ser) | |
3 | g.122261950C>A | CA2569560 | CASR | c.915C>A (p.Ile305=) c.432C>A (p.Ile144=) c.327C>A (p.Ile109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261950C= | CA1397873221 | CASR | c.915C= (p.Ile305=) c.432C= (p.Ile144=) c.327C= (p.Ile109=) | |
3 | g.122261950C>G | CA354151625 | CASR | c.915C>G (p.Ile305Met) c.432C>G (p.Ile144Met) c.327C>G (p.Ile109Met) | dbSNP gnomAD v4 |
3 | g.122261950C>T | CA435424576 | CASR | c.915C>T (p.Ile305=) c.432C>T (p.Ile144=) c.327C>T (p.Ile109=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261951G>A | CA354151626 | CASR | c.916G>A (p.Ala306Thr) c.433G>A (p.Ala145Thr) c.328G>A (p.Ala110Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.122261951G>C | CA354151627 | CASR | c.916G>C (p.Ala306Pro) c.433G>C (p.Ala145Pro) c.328G>C (p.Ala110Pro) | ClinVar gnomAD v4 |
3 | g.122261951G= | CA1397873225 | CASR | c.916G= (p.Ala306=) c.433G= (p.Ala145=) c.328G= (p.Ala110=) | |
3 | g.122261951G>T | CA354151628 | CASR | c.916G>T (p.Ala306Ser) c.433G>T (p.Ala145Ser) c.328G>T (p.Ala110Ser) | ClinVar dbSNP |
3 | g.122261952C>A | CA354151629 | CASR | c.917C>A (p.Ala306Asp) c.434C>A (p.Ala145Asp) c.329C>A (p.Ala110Asp) | |
3 | g.122261952C>G | CA354151630 | CASR | c.917C>G (p.Ala306Gly) c.434C>G (p.Ala145Gly) c.329C>G (p.Ala110Gly) | |
3 | g.122261952C>T | CA354151631 | CASR | c.917C>T (p.Ala306Val) c.434C>T (p.Ala145Val) c.329C>T (p.Ala110Val) | gnomAD v4 |
3 | g.122261953C>A | CA435424580 | CASR | c.918C>A (p.Ala306=) c.435C>A (p.Ala145=) c.330C>A (p.Ala110=) | |
3 | g.122261953C>G | CA435424581 | CASR | c.918C>G (p.Ala306=) c.435C>G (p.Ala145=) c.330C>G (p.Ala110=) | |
3 | g.122261953C>T | CA435424582 | CASR | c.918C>T (p.Ala306=) c.435C>T (p.Ala145=) c.330C>T (p.Ala110=) | |
3 | g.122261954A= | CA1397873227 | CASR | c.919A= (p.Met307=) c.436A= (p.Met146=) c.331A= (p.Met111=) | |
3 | g.122261954A>C | CA354151634 | CASR | c.919A>C (p.Met307Leu) c.436A>C (p.Met146Leu) c.331A>C (p.Met111Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261954A>G | CA354151633 | CASR | c.919A>G (p.Met307Val) c.436A>G (p.Met146Val) c.331A>G (p.Met111Val) | ClinVar gnomAD v4 |
3 | g.122261954A>T | CA354151632 | CASR | c.919A>T (p.Met307Leu) c.436A>T (p.Met146Leu) c.331A>T (p.Met111Leu) | |
3 | g.122261955T>A | CA354151635 | CASR | c.920T>A (p.Met307Lys) c.437T>A (p.Met146Lys) c.332T>A (p.Met111Lys) | |
3 | g.122261955T>C | CA216142 | CASR | c.920T>C (p.Met307Thr) c.437T>C (p.Met146Thr) c.332T>C (p.Met111Thr) | ClinVar dbSNP |
3 | g.122261955T>G | CA354151636 | CASR | c.920T>G (p.Met307Arg) c.437T>G (p.Met146Arg) c.332T>G (p.Met111Arg) | |
3 | g.122261955T= | CA1397873229 | CASR | c.920T= (p.Met307=) c.437T= (p.Met146=) c.332T= (p.Met111=) | |
3 | g.122261956G>A | CA2569561 | CASR | c.921G>A (p.Met307Ile) c.438G>A (p.Met146Ile) c.333G>A (p.Met111Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261956G>C | CA354151637 | CASR | c.921G>C (p.Met307Ile) c.438G>C (p.Met146Ile) c.333G>C (p.Met111Ile) | |
3 | g.122261956G= | CA1397873231 | CASR | c.921G= (p.Met307=) c.438G= (p.Met146=) c.333G= (p.Met111=) | |
3 | g.122261956G>T | CA354151638 | CASR | c.921G>T (p.Met307Ile) c.438G>T (p.Met146Ile) c.333G>T (p.Met111Ile) | |
3 | g.122261957C>A | CA354151639 | CASR | c.922C>A (p.Pro308Thr) c.439C>A (p.Pro147Thr) c.334C>A (p.Pro112Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261957C= | CA1397873233 | CASR | c.922C= (p.Pro308=) c.439C= (p.Pro147=) c.334C= (p.Pro112=) | |
3 | g.122261957C>G | CA354151640 | CASR | c.922C>G (p.Pro308Ala) c.439C>G (p.Pro147Ala) c.334C>G (p.Pro112Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261957C>T | CA354151641 | CASR | c.922C>T (p.Pro308Ser) c.439C>T (p.Pro147Ser) c.334C>T (p.Pro112Ser) | |
3 | g.122261958C>A | CA354151642 | CASR | c.923C>A (p.Pro308His) c.440C>A (p.Pro147His) c.335C>A (p.Pro112His) | |
3 | g.122261958C= | CA1397873235 | CASR | c.923C= (p.Pro308=) c.440C= (p.Pro147=) c.335C= (p.Pro112=) | |
3 | g.122261958C>G | CA354151643 | CASR | c.923C>G (p.Pro308Arg) c.440C>G (p.Pro147Arg) c.335C>G (p.Pro112Arg) | |
3 | g.122261958C>T | CA2569562 | CASR | c.923C>T (p.Pro308Leu) c.440C>T (p.Pro147Leu) c.335C>T (p.Pro112Leu) | dbSNP ExAC gnomAD v2 |
3 | g.122261959_122261960dup | CA2499216410 | CASR | c.924_925dup (p.Gln309LeufsTer15) c.441_442dup (p.Gln148LeufsTer15) c.336_337dup (p.Gln113LeufsTer15) | ClinVar dbSNP |
3 | g.122261959T>A | CA435424604 | CASR | c.924T>A (p.Pro308=) c.441T>A (p.Pro147=) c.336T>A (p.Pro112=) | |
3 | g.122261959T>C | CA435424605 | CASR | c.924T>C (p.Pro308=) c.441T>C (p.Pro147=) c.336T>C (p.Pro112=) | |
3 | g.122261959T>G | CA435424602 | CASR | c.924T>G (p.Pro308=) c.441T>G (p.Pro147=) c.336T>G (p.Pro112=) | |
3 | g.122261960C>A | CA354151646 | CASR | c.925C>A (p.Gln309Lys) c.442C>A (p.Gln148Lys) c.337C>A (p.Gln113Lys) | |
3 | g.122261960C= | CA1397873236 | CASR | c.925C= (p.Gln309=) c.442C= (p.Gln148=) c.337C= (p.Gln113=) | |
3 | g.122261960C>G | CA354151645 | CASR | c.925C>G (p.Gln309Glu) c.442C>G (p.Gln148Glu) c.337C>G (p.Gln113Glu) | |
3 | g.122261960C>T | CA354151644 | CASR | c.925C>T (p.Gln309Ter) c.442C>T (p.Gln148Ter) c.337C>T (p.Gln113Ter) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261961A= | CA1397873238 | CASR | c.926A= (p.Gln309=) c.443A= (p.Gln148=) c.338A= (p.Gln113=) | |
3 | g.122261961A>C | CA354151649 | CASR | c.926A>C (p.Gln309Pro) c.443A>C (p.Gln148Pro) c.338A>C (p.Gln113Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122261961A>G | CA354151647 | CASR | c.926A>G (p.Gln309Arg) c.443A>G (p.Gln148Arg) c.338A>G (p.Gln113Arg) | |
3 | g.122261961A>T | CA354151648 | CASR | c.926A>T (p.Gln309Leu) c.443A>T (p.Gln148Leu) c.338A>T (p.Gln113Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122261962G>A | CA435424608 | CASR | c.927G>A (p.Gln309=) c.444G>A (p.Gln148=) c.339G>A (p.Gln113=) | |
3 | g.122261962G>C | CA354151650 | CASR | c.927G>C (p.Gln309His) c.444G>C (p.Gln148His) c.339G>C (p.Gln113His) | |
3 | g.122261962G>T | CA354151651 | CASR | c.927G>T (p.Gln309His) c.444G>T (p.Gln148His) c.339G>T (p.Gln113His) | |
3 | g.122261963T>A | CA354151652 | CASR | c.928T>A (p.Tyr310Asn) c.445T>A (p.Tyr149Asn) c.340T>A (p.Tyr114Asn) | |
3 | g.122261963T>C | CA354151653 | CASR | c.928T>C (p.Tyr310His) c.445T>C (p.Tyr149His) c.340T>C (p.Tyr114His) | |
3 | g.122261963T>G | CA354151654 | CASR | c.928T>G (p.Tyr310Asp) c.445T>G (p.Tyr149Asp) c.340T>G (p.Tyr114Asp) | |
3 | g.122261964A= | CA1397873240 | CASR | c.929A= (p.Tyr310=) c.446A= (p.Tyr149=) c.341A= (p.Tyr114=) | |
3 | g.122261964A>C | CA354151655 | CASR | c.929A>C (p.Tyr310Ser) c.446A>C (p.Tyr149Ser) c.341A>C (p.Tyr114Ser) | |
3 | g.122261964A>G | CA354151656 | CASR | c.929A>G (p.Tyr310Cys) c.446A>G (p.Tyr149Cys) c.341A>G (p.Tyr114Cys) | ClinVar dbSNP |
3 | g.122261964A>T | CA82738659 | CASR | c.929A>T (p.Tyr310Phe) c.446A>T (p.Tyr149Phe) c.341A>T (p.Tyr114Phe) | dbSNP |
3 | g.122261965C>A | CA354151657 | CASR | c.930C>A (p.Tyr310Ter) c.447C>A (p.Tyr149Ter) c.342C>A (p.Tyr114Ter) | |
3 | g.122261965C= | CA1397873242 | CASR | c.930C= (p.Tyr310=) c.447C= (p.Tyr149=) c.342C= (p.Tyr114=) | |
3 | g.122261965C>G | CA354151658 | CASR | c.930C>G (p.Tyr310Ter) c.447C>G (p.Tyr149Ter) c.342C>G (p.Tyr114Ter) | |
3 | g.122261965C>T | CA2569563 | CASR | c.930C>T (p.Tyr310=) c.447C>T (p.Tyr149=) c.342C>T (p.Tyr114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261966T>A | CA354151661 | CASR | c.931T>A (p.Phe311Ile) c.448T>A (p.Phe150Ile) c.343T>A (p.Phe115Ile) | |
3 | g.122261966T>C | CA354151659 | CASR | c.931T>C (p.Phe311Leu) c.448T>C (p.Phe150Leu) c.343T>C (p.Phe115Leu) | |
3 | g.122261966T>G | CA354151660 | CASR | c.931T>G (p.Phe311Val) c.448T>G (p.Phe150Val) c.343T>G (p.Phe115Val) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261967T>A | CA354151662 | CASR | c.932T>A (p.Phe311Tyr) c.449T>A (p.Phe150Tyr) c.344T>A (p.Phe115Tyr) | |
3 | g.122261967T>C | CA354151663 | CASR | c.932T>C (p.Phe311Ser) c.449T>C (p.Phe150Ser) c.344T>C (p.Phe115Ser) | gnomAD v4 |
3 | g.122261967T>G | CA354151664 | CASR | c.932T>G (p.Phe311Cys) c.449T>G (p.Phe150Cys) c.344T>G (p.Phe115Cys) | |
3 | g.122261968C>A | CA354151665 | CASR | c.933C>A (p.Phe311Leu) c.450C>A (p.Phe150Leu) c.345C>A (p.Phe115Leu) | ClinVar |
3 | g.122261968C>G | CA354151666 | CASR | c.933C>G (p.Phe311Leu) c.450C>G (p.Phe150Leu) c.345C>G (p.Phe115Leu) | |
3 | g.122261968C>T | CA435424629 | CASR | c.933C>T (p.Phe311=) c.450C>T (p.Phe150=) c.345C>T (p.Phe115=) | |
3 | g.122261969C>A | CA354151667 | CASR | c.934C>A (p.His312Asn) c.451C>A (p.His151Asn) c.346C>A (p.His116Asn) | |
3 | g.122261969C>G | CA354151668 | CASR | c.934C>G (p.His312Asp) c.451C>G (p.His151Asp) c.346C>G (p.His116Asp) | |
3 | g.122261969C>T | CA354151669 | CASR | c.934C>T (p.His312Tyr) c.451C>T (p.His151Tyr) c.346C>T (p.His116Tyr) | |
3 | g.122261970A>C | CA354151670 | CASR | c.935A>C (p.His312Pro) c.452A>C (p.His151Pro) c.347A>C (p.His116Pro) | |
3 | g.122261970A>G | CA354151671 | CASR | c.935A>G (p.His312Arg) c.452A>G (p.His151Arg) c.347A>G (p.His116Arg) | |
3 | g.122261970A>T | CA354151672 | CASR | c.935A>T (p.His312Leu) c.452A>T (p.His151Leu) c.347A>T (p.His116Leu) | |
3 | g.122261971C>A | CA354151673 | CASR | c.936C>A (p.His312Gln) c.453C>A (p.His151Gln) c.348C>A (p.His116Gln) | |
3 | g.122261971C= | CA1397873244 | CASR | c.936C= (p.His312=) c.453C= (p.His151=) c.348C= (p.His116=) | |
3 | g.122261971C>G | CA354151675 | CASR | c.936C>G (p.His312Gln) c.453C>G (p.His151Gln) c.348C>G (p.His116Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.122261971C>T | CA435424634 | CASR | c.936C>T (p.His312=) c.453C>T (p.His151=) c.348C>T (p.His116=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261972G>A | CA82738662 | CASR | c.937G>A (p.Val313Met) c.454G>A (p.Val152Met) c.349G>A (p.Val117Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261972G>C | CA354151679 | CASR | c.937G>C (p.Val313Leu) c.454G>C (p.Val152Leu) c.349G>C (p.Val117Leu) | ClinVar gnomAD v4 |
3 | g.122261972G= | CA1397873246 | CASR | c.937G= (p.Val313=) c.454G= (p.Val152=) c.349G= (p.Val117=) | |
3 | g.122261972G>T | CA354151677 | CASR | c.937G>T (p.Val313Leu) c.454G>T (p.Val152Leu) c.349G>T (p.Val117Leu) | |
3 | g.122261973T>A | CA354151680 | CASR | c.938T>A (p.Val313Glu) c.455T>A (p.Val152Glu) c.350T>A (p.Val117Glu) | ClinVar |
3 | g.122261973T>C | CA354151683 | CASR | c.938T>C (p.Val313Ala) c.455T>C (p.Val152Ala) c.350T>C (p.Val117Ala) | ClinVar |
3 | g.122261973T>G | CA354151681 | CASR | c.938T>G (p.Val313Gly) c.455T>G (p.Val152Gly) c.350T>G (p.Val117Gly) | |
3 | g.122261974G>A | CA2569564 | CASR | c.939G>A (p.Val313=) c.456G>A (p.Val152=) c.351G>A (p.Val117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261974G>C | CA435424641 | CASR | c.939G>C (p.Val313=) c.456G>C (p.Val152=) c.351G>C (p.Val117=) | |
3 | g.122261974G= | CA1397873248 | CASR | c.939G= (p.Val313=) c.456G= (p.Val152=) c.351G= (p.Val117=) | |
3 | g.122261974G>T | CA435424642 | CASR | c.939G>T (p.Val313=) c.456G>T (p.Val152=) c.351G>T (p.Val117=) | |
3 | g.122261975G>A | CA354151686 | CASR | c.940G>A (p.Val314Ile) c.457G>A (p.Val153Ile) c.352G>A (p.Val118Ile) | |
3 | g.122261975G>C | CA354151688 | CASR | c.940G>C (p.Val314Leu) c.457G>C (p.Val153Leu) c.352G>C (p.Val118Leu) | |
3 | g.122261975G>T | CA354151690 | CASR | c.940G>T (p.Val314Phe) c.457G>T (p.Val153Phe) c.352G>T (p.Val118Phe) | |
3 | g.122261976T>A | CA354151691 | CASR | c.941T>A (p.Val314Asp) c.458T>A (p.Val153Asp) c.353T>A (p.Val118Asp) | |
3 | g.122261976T>C | CA354151693 | CASR | c.941T>C (p.Val314Ala) c.458T>C (p.Val153Ala) c.353T>C (p.Val118Ala) | |
3 | g.122261976T>G | CA354151695 | CASR | c.941T>G (p.Val314Gly) c.458T>G (p.Val153Gly) c.353T>G (p.Val118Gly) | |
3 | g.122261977T>A | CA435424646 | CASR | c.942T>A (p.Val314=) c.459T>A (p.Val153=) c.354T>A (p.Val118=) | |
3 | g.122261977T>C | CA435424647 | CASR | c.942T>C (p.Val314=) c.459T>C (p.Val153=) c.354T>C (p.Val118=) | ClinVar dbSNP |
3 | g.122261977T>G | CA435424648 | CASR | c.942T>G (p.Val314=) c.459T>G (p.Val153=) c.354T>G (p.Val118=) | ClinVar |
3 | g.122261978G>A | CA354151697 | CASR | c.943G>A (p.Gly315Ser) c.460G>A (p.Gly154Ser) c.355G>A (p.Gly119Ser) | |
3 | g.122261978G>C | CA354151699 | CASR | c.943G>C (p.Gly315Arg) c.460G>C (p.Gly154Arg) c.355G>C (p.Gly119Arg) | |
3 | g.122261978G>T | CA354151702 | CASR | c.943G>T (p.Gly315Cys) c.460G>T (p.Gly154Cys) c.355G>T (p.Gly119Cys) | |
3 | g.122261979G>A | CA354151705 | CASR | c.944G>A (p.Gly315Asp) c.461G>A (p.Gly154Asp) c.356G>A (p.Gly119Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261979G>C | CA354151706 | CASR | c.944G>C (p.Gly315Ala) c.461G>C (p.Gly154Ala) c.356G>C (p.Gly119Ala) | ClinVar |
3 | g.122261979G= | CA1397873251 | CASR | c.944G= (p.Gly315=) c.461G= (p.Gly154=) c.356G= (p.Gly119=) | |
3 | g.122261979G>T | CA354151708 | CASR | c.944G>T (p.Gly315Val) c.461G>T (p.Gly154Val) c.356G>T (p.Gly119Val) | |
3 | g.122261980C>A | CA435424649 | CASR | c.945C>A (p.Gly315=) c.462C>A (p.Gly154=) c.357C>A (p.Gly119=) | ClinVar dbSNP |
3 | g.122261980C= | CA1397873253 | CASR | c.945C= (p.Gly315=) c.462C= (p.Gly154=) c.357C= (p.Gly119=) | |
3 | g.122261980C>G | CA435424650 | CASR | c.945C>G (p.Gly315=) c.462C>G (p.Gly154=) c.357C>G (p.Gly119=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261980C>T | CA82738673 | CASR | c.945C>T (p.Gly315=) c.462C>T (p.Gly154=) c.357C>T (p.Gly119=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261981G>A | CA2569565 | CASR | c.946G>A (p.Gly316Ser) c.463G>A (p.Gly155Ser) c.358G>A (p.Gly120Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261981G>C | CA354151715 | CASR | c.946G>C (p.Gly316Arg) c.463G>C (p.Gly155Arg) c.358G>C (p.Gly120Arg) | |
3 | g.122261981G= | CA1397873255 | CASR | c.946G= (p.Gly316=) c.463G= (p.Gly155=) c.358G= (p.Gly120=) | |
3 | g.122261981G>T | CA354151713 | CASR | c.946G>T (p.Gly316Cys) c.463G>T (p.Gly155Cys) c.358G>T (p.Gly120Cys) | |
3 | g.122261982G>A | CA354151718 | CASR | c.947G>A (p.Gly316Asp) c.464G>A (p.Gly155Asp) c.359G>A (p.Gly120Asp) | dbSNP |
3 | g.122261982G>C | CA354151721 | CASR | c.947G>C (p.Gly316Ala) c.464G>C (p.Gly155Ala) c.359G>C (p.Gly120Ala) | |
3 | g.122261982G= | CA1397873257 | CASR | c.947G= (p.Gly316=) c.464G= (p.Gly155=) c.359G= (p.Gly120=) | |
3 | g.122261982G>T | CA354151723 | CASR | c.947G>T (p.Gly316Val) c.464G>T (p.Gly155Val) c.359G>T (p.Gly120Val) | |
3 | g.122261983C>A | CA435424653 | CASR | c.948C>A (p.Gly316=) c.465C>A (p.Gly155=) c.360C>A (p.Gly120=) | |
3 | g.122261983C>G | CA435424654 | CASR | c.948C>G (p.Gly316=) c.465C>G (p.Gly155=) c.360C>G (p.Gly120=) | |
3 | g.122261983C>T | CA435424655 | CASR | c.948C>T (p.Gly316=) c.465C>T (p.Gly155=) c.360C>T (p.Gly120=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261984A>C | CA354151727 | CASR | c.949A>C (p.Thr317Pro) c.466A>C (p.Thr156Pro) c.361A>C (p.Thr121Pro) | |
3 | g.122261984A>G | CA354151730 | CASR | c.949A>G (p.Thr317Ala) c.466A>G (p.Thr156Ala) c.361A>G (p.Thr121Ala) | ClinVar |
3 | g.122261984A>T | CA354151732 | CASR | c.949A>T (p.Thr317Ser) c.466A>T (p.Thr156Ser) c.361A>T (p.Thr121Ser) | |
3 | g.122261985C>A | CA354151736 | CASR | c.950C>A (p.Thr317Asn) c.467C>A (p.Thr156Asn) c.362C>A (p.Thr121Asn) | |
3 | g.122261985C>G | CA354151737 | CASR | c.950C>G (p.Thr317Ser) c.467C>G (p.Thr156Ser) c.362C>G (p.Thr121Ser) | |
3 | g.122261985C>T | CA354151740 | CASR | c.950C>T (p.Thr317Ile) c.467C>T (p.Thr156Ile) c.362C>T (p.Thr121Ile) | |
3 | g.122261986C>A | CA435424660 | CASR | c.951C>A (p.Thr317=) c.468C>A (p.Thr156=) c.363C>A (p.Thr121=) | |
3 | g.122261986C= | CA1397873259 | CASR | c.951C= (p.Thr317=) c.468C= (p.Thr156=) c.363C= (p.Thr121=) | |
3 | g.122261986C>G | CA435424661 | CASR | c.951C>G (p.Thr317=) c.468C>G (p.Thr156=) c.363C>G (p.Thr121=) | |
3 | g.122261986C>T | CA435424662 | CASR | c.951C>T (p.Thr317=) c.468C>T (p.Thr156=) c.363C>T (p.Thr121=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261987A= | CA1397873260 | CASR | c.952A= (p.Ile318=) c.469A= (p.Ile157=) c.364A= (p.Ile122=) | |
3 | g.122261987A>C | CA354151747 | CASR | c.952A>C (p.Ile318Leu) c.469A>C (p.Ile157Leu) c.364A>C (p.Ile122Leu) | |
3 | g.122261987A>G | CA2569566 | CASR | c.952A>G (p.Ile318Val) c.469A>G (p.Ile157Val) c.364A>G (p.Ile122Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261987A>T | CA354151743 | CASR | c.952A>T (p.Ile318Phe) c.469A>T (p.Ile157Phe) c.364A>T (p.Ile122Phe) |