| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915273_51915276dup | CA2695216739 | ACVRL1 | c.551_554dup (p.Ile186AlafsTer?) c.821_824dup (p.Ile276AlafsTer?) c.299_302dup (p.Ile102AlafsTer?) c.863_866dup (p.Ile290AlafsTer?) c.32_35dup (p.Ile13AlafsTer?) | |
| 12 | g.51915276T>A | CA384900457 | ACVRL1 | c.554T>A (p.Leu185His) c.824T>A (p.Leu275His) c.302T>A (p.Leu101His) c.866T>A (p.Leu289His) c.35T>A (p.Leu12His) | |
| 12 | g.51915276T>C | CA384900458 | ACVRL1 | c.554T>C (p.Leu185Pro) c.824T>C (p.Leu275Pro) c.302T>C (p.Leu101Pro) c.866T>C (p.Leu289Pro) c.35T>C (p.Leu12Pro) | ClinVar |
| 12 | g.51915276T>G | CA384900456 | ACVRL1 | c.554T>G (p.Leu185Arg) c.824T>G (p.Leu275Arg) c.302T>G (p.Leu101Arg) c.866T>G (p.Leu289Arg) c.35T>G (p.Leu12Arg) | |
| 12 | g.51915277C>A | CA480063159 | ACVRL1 | c.555C>A (p.Leu185=) c.825C>A (p.Leu275=) c.303C>A (p.Leu101=) c.867C>A (p.Leu289=) c.36C>A (p.Leu12=) | |
| 12 | g.51915277C= | CA2036269436 | ACVRL1 | c.555C= (p.Leu185=) c.825C= (p.Leu275=) c.303C= (p.Leu101=) c.867C= (p.Leu289=) c.36C= (p.Leu12=) | |
| 12 | g.51915277C>G | CA480063160 | ACVRL1 | c.555C>G (p.Leu185=) c.825C>G (p.Leu275=) c.303C>G (p.Leu101=) c.867C>G (p.Leu289=) c.36C>G (p.Leu12=) | |
| 12 | g.51915277C>T | CA480063161 | ACVRL1 | c.555C>T (p.Leu185=) c.825C>T (p.Leu275=) c.303C>T (p.Leu101=) c.867C>T (p.Leu289=) c.36C>T (p.Leu12=) | dbSNP |
| 12 | g.51915278A= | CA2036269437 | ACVRL1 | c.556A= (p.Ile186=) c.826A= (p.Ile276=) c.304A= (p.Ile102=) c.868A= (p.Ile290=) c.37A= (p.Ile13=) | |
| 12 | g.51915278A>C | CA236363985 | ACVRL1 | c.556A>C (p.Ile186Leu) c.826A>C (p.Ile276Leu) c.304A>C (p.Ile102Leu) c.868A>C (p.Ile290Leu) c.37A>C (p.Ile13Leu) | dbSNP |
| 12 | g.51915278A>G | CA384900460 | ACVRL1 | c.556A>G (p.Ile186Val) c.826A>G (p.Ile276Val) c.304A>G (p.Ile102Val) c.868A>G (p.Ile290Val) c.37A>G (p.Ile13Val) | |
| 12 | g.51915278A>T | CA384900461 | ACVRL1 | c.556A>T (p.Ile186Phe) c.826A>T (p.Ile276Phe) c.304A>T (p.Ile102Phe) c.868A>T (p.Ile290Phe) c.37A>T (p.Ile13Phe) | |
| 12 | g.51915279T>A | CA384900463 | ACVRL1 | c.557T>A (p.Ile186Asn) c.827T>A (p.Ile276Asn) c.305T>A (p.Ile102Asn) c.869T>A (p.Ile290Asn) c.38T>A (p.Ile13Asn) | |
| 12 | g.51915279T>C | CA384900465 | ACVRL1 | c.557T>C (p.Ile186Thr) c.827T>C (p.Ile276Thr) c.305T>C (p.Ile102Thr) c.869T>C (p.Ile290Thr) c.38T>C (p.Ile13Thr) | |
| 12 | g.51915279T>G | CA384900467 | ACVRL1 | c.557T>G (p.Ile186Ser) c.827T>G (p.Ile276Ser) c.305T>G (p.Ile102Ser) c.869T>G (p.Ile290Ser) c.38T>G (p.Ile13Ser) | |
| 12 | g.51915280C>A | CA480063162 | ACVRL1 | c.558C>A (p.Ile186=) c.828C>A (p.Ile276=) c.306C>A (p.Ile102=) c.870C>A (p.Ile290=) c.39C>A (p.Ile13=) | |
| 12 | g.51915280C= | CA2036269438 | ACVRL1 | c.558C= (p.Ile186=) c.828C= (p.Ile276=) c.306C= (p.Ile102=) c.870C= (p.Ile290=) c.39C= (p.Ile13=) | |
| 12 | g.51915280C>G | CA384900468 | ACVRL1 | c.558C>G (p.Ile186Met) c.828C>G (p.Ile276Met) c.306C>G (p.Ile102Met) c.870C>G (p.Ile290Met) c.39C>G (p.Ile13Met) | |
| 12 | g.51915280C>T | CA236363986 | ACVRL1 | c.558C>T (p.Ile186=) c.828C>T (p.Ile276=) c.306C>T (p.Ile102=) c.870C>T (p.Ile290=) c.39C>T (p.Ile13=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51915281A= | CA2036269439 | ACVRL1 | c.559A= (p.Thr187=) c.829A= (p.Thr277=) c.307A= (p.Thr103=) c.871A= (p.Thr291=) c.40A= (p.Thr14=) | |
| 12 | g.51915281A>C | CA384900469 | ACVRL1 | c.559A>C (p.Thr187Pro) c.829A>C (p.Thr277Pro) c.307A>C (p.Thr103Pro) c.871A>C (p.Thr291Pro) c.40A>C (p.Thr14Pro) | |
| 12 | g.51915281A>G | CA236363987 | ACVRL1 | c.559A>G (p.Thr187Ala) c.829A>G (p.Thr277Ala) c.307A>G (p.Thr103Ala) c.871A>G (p.Thr291Ala) c.40A>G (p.Thr14Ala) | dbSNP gnomAD v4 |
| 12 | g.51915281A>T | CA384900471 | ACVRL1 | c.559A>T (p.Thr187Ser) c.829A>T (p.Thr277Ser) c.307A>T (p.Thr103Ser) c.871A>T (p.Thr291Ser) c.40A>T (p.Thr14Ser) | |
| 12 | g.51915282C>A | CA384900472 | ACVRL1 | c.560C>A (p.Thr187Lys) c.830C>A (p.Thr277Lys) c.308C>A (p.Thr103Lys) c.872C>A (p.Thr291Lys) c.41C>A (p.Thr14Lys) | ClinVar dbSNP |
| 12 | g.51915282C= | CA2036269440 | ACVRL1 | c.560C= (p.Thr187=) c.830C= (p.Thr277=) c.308C= (p.Thr103=) c.872C= (p.Thr291=) c.41C= (p.Thr14=) | |
| 12 | g.51915282C>G | CA384900474 | ACVRL1 | c.560C>G (p.Thr187Arg) c.830C>G (p.Thr277Arg) c.308C>G (p.Thr103Arg) c.872C>G (p.Thr291Arg) c.41C>G (p.Thr14Arg) | ClinVar dbSNP |
| 12 | g.51915282C>T | CA6573004 | ACVRL1 | c.560C>T (p.Thr187Met) c.830C>T (p.Thr277Met) c.308C>T (p.Thr103Met) c.872C>T (p.Thr291Met) c.41C>T (p.Thr14Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51915283G>A | CA236363998 | ACVRL1 | c.561G>A (p.Thr187=) c.831G>A (p.Thr277=) c.309G>A (p.Thr103=) c.873G>A (p.Thr291=) c.42G>A (p.Thr14=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915283G>C | CA480063163 | ACVRL1 | c.561G>C (p.Thr187=) c.831G>C (p.Thr277=) c.309G>C (p.Thr103=) c.873G>C (p.Thr291=) c.42G>C (p.Thr14=) | |
| 12 | g.51915283G= | CA2036269441 | ACVRL1 | c.561G= (p.Thr187=) c.831G= (p.Thr277=) c.309G= (p.Thr103=) c.873G= (p.Thr291=) c.42G= (p.Thr14=) | |
| 12 | g.51915283G>T | CA480063164 | ACVRL1 | c.561G>T (p.Thr187=) c.831G>T (p.Thr277=) c.309G>T (p.Thr103=) c.873G>T (p.Thr291=) c.42G>T (p.Thr14=) | COSMIC COSMIC |
| 12 | g.51915284C>A | CA384900480 | ACVRL1 | c.562C>A (p.His188Asn) c.832C>A (p.His278Asn) c.310C>A (p.His104Asn) c.874C>A (p.His292Asn) c.43C>A (p.His15Asn) | gnomAD v4 |
| 12 | g.51915284C>G | CA384900478 | ACVRL1 | c.562C>G (p.His188Asp) c.832C>G (p.His278Asp) c.310C>G (p.His104Asp) c.874C>G (p.His292Asp) c.43C>G (p.His15Asp) | |
| 12 | g.51915284C>T | CA384900476 | ACVRL1 | c.562C>T (p.His188Tyr) c.832C>T (p.His278Tyr) c.310C>T (p.His104Tyr) c.874C>T (p.His292Tyr) c.43C>T (p.His15Tyr) | |
| 12 | g.51915285A>C | CA384900482 | ACVRL1 | c.563A>C (p.His188Pro) c.833A>C (p.His278Pro) c.311A>C (p.His104Pro) c.875A>C (p.His292Pro) c.44A>C (p.His15Pro) | gnomAD v4 |
| 12 | g.51915285A>G | CA384900484 | ACVRL1 | c.563A>G (p.His188Arg) c.833A>G (p.His278Arg) c.311A>G (p.His104Arg) c.875A>G (p.His292Arg) c.44A>G (p.His15Arg) | |
| 12 | g.51915285A>T | CA384900485 | ACVRL1 | c.563A>T (p.His188Leu) c.833A>T (p.His278Leu) c.311A>T (p.His104Leu) c.875A>T (p.His292Leu) c.44A>T (p.His15Leu) | |
| 12 | g.51915287_51915289dup | CA2580086476 | ACVRL1 | c.565_567dup (p.Tyr189_His190insTyr) c.835_837dup (p.Tyr279_His280insTyr) c.313_315dup (p.Tyr105_His106insTyr) c.877_879dup (p.Tyr293_His294insTyr) c.46_48dup (p.Tyr16_His17insTyr) | ClinVar |
| 12 | g.51915286C>A | CA384900487 | ACVRL1 | c.564C>A (p.His188Gln) c.834C>A (p.His278Gln) c.312C>A (p.His104Gln) c.876C>A (p.His292Gln) c.45C>A (p.His15Gln) | |
| 12 | g.51915286C= | CA2036269442 | ACVRL1 | c.564C= (p.His188=) c.834C= (p.His278=) c.312C= (p.His104=) c.876C= (p.His292=) c.45C= (p.His15=) | |
| 12 | g.51915286C>G | CA384900488 | ACVRL1 | c.564C>G (p.His188Gln) c.834C>G (p.His278Gln) c.312C>G (p.His104Gln) c.876C>G (p.His292Gln) c.45C>G (p.His15Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915286C>T | CA236364003 | ACVRL1 | c.564C>T (p.His188=) c.834C>T (p.His278=) c.312C>T (p.His104=) c.876C>T (p.His292=) c.45C>T (p.His15=) | dbSNP |
| 12 | g.51915287T>A | CA384900489 | ACVRL1 | c.565T>A (p.Tyr189Asn) c.835T>A (p.Tyr279Asn) c.313T>A (p.Tyr105Asn) c.877T>A (p.Tyr293Asn) c.46T>A (p.Tyr16Asn) | |
| 12 | g.51915287T>C | CA384900490 | ACVRL1 | c.565T>C (p.Tyr189His) c.835T>C (p.Tyr279His) c.313T>C (p.Tyr105His) c.877T>C (p.Tyr293His) c.46T>C (p.Tyr16His) | |
| 12 | g.51915287T>G | CA384900491 | ACVRL1 | c.565T>G (p.Tyr189Asp) c.835T>G (p.Tyr279Asp) c.313T>G (p.Tyr105Asp) c.877T>G (p.Tyr293Asp) c.46T>G (p.Tyr16Asp) | |
| 12 | g.51915288A= | CA2036269443 | ACVRL1 | c.566A= (p.Tyr189=) c.836A= (p.Tyr279=) c.314A= (p.Tyr105=) c.878A= (p.Tyr293=) c.47A= (p.Tyr16=) | |
| 12 | g.51915288A>C | CA384900492 | ACVRL1 | c.566A>C (p.Tyr189Ser) c.836A>C (p.Tyr279Ser) c.314A>C (p.Tyr105Ser) c.878A>C (p.Tyr293Ser) c.47A>C (p.Tyr16Ser) | |
| 12 | g.51915288A>G | CA384900494 | ACVRL1 | c.566A>G (p.Tyr189Cys) c.836A>G (p.Tyr279Cys) c.314A>G (p.Tyr105Cys) c.878A>G (p.Tyr293Cys) c.47A>G (p.Tyr16Cys) | dbSNP |
| 12 | g.51915288A>T | CA384900495 | ACVRL1 | c.566A>T (p.Tyr189Phe) c.836A>T (p.Tyr279Phe) c.314A>T (p.Tyr105Phe) c.878A>T (p.Tyr293Phe) c.47A>T (p.Tyr16Phe) | |
| 12 | g.51915290_51915298dup | CA2695216740 | ACVRL1 | c.568_576dup (p.His192_Gly193insHisGluHis) c.838_846dup (p.His282_Gly283insHisGluHis) c.316_324dup (p.His108_Gly109insHisGluHis) c.880_888dup (p.His296_Gly297insHisGluHis) c.49_57dup (p.His19_Gly20insHisGluHis) |