| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915260_51915272dup | CA658797917 | ACVRL1 | c.538_550dup (p.Trp184Ter) c.808_820dup (p.Trp274Ter) c.286_298dup (p.Trp100Ter) c.850_862dup (p.Trp288Ter) c.19_31dup (p.Trp11Ter) | ClinVar dbSNP |
| 12 | g.51915263_51915275del | CA2695216738 | ACVRL1 | c.541_553del (p.Thr181SerfsTer26) c.811_823del (p.Thr271SerfsTer26) c.289_301del (p.Thr97SerfsTer26) c.853_865del (p.Thr285SerfsTer26) c.22_34del (p.Thr8SerfsTer26) | |
| 12 | g.51915271G>A | CA480063156 | ACVRL1 | c.549G>A (p.Leu183=) c.819G>A (p.Leu273=) c.297G>A (p.Leu99=) c.861G>A (p.Leu287=) c.30G>A (p.Leu10=) | |
| 12 | g.51915271G>C | CA480063157 | ACVRL1 | c.549G>C (p.Leu183=) c.819G>C (p.Leu273=) c.297G>C (p.Leu99=) c.861G>C (p.Leu287=) c.30G>C (p.Leu10=) | |
| 12 | g.51915271G>T | CA480063158 | ACVRL1 | c.549G>T (p.Leu183=) c.819G>T (p.Leu273=) c.297G>T (p.Leu99=) c.861G>T (p.Leu287=) c.30G>T (p.Leu10=) | |
| 12 | g.51915272T>A | CA384900438 | ACVRL1 | c.550T>A (p.Trp184Arg) c.820T>A (p.Trp274Arg) c.298T>A (p.Trp100Arg) c.862T>A (p.Trp288Arg) c.31T>A (p.Trp11Arg) | |
| 12 | g.51915272T>C | CA384900439 | ACVRL1 | c.550T>C (p.Trp184Arg) c.820T>C (p.Trp274Arg) c.298T>C (p.Trp100Arg) c.862T>C (p.Trp288Arg) c.31T>C (p.Trp11Arg) | |
| 12 | g.51915272T>G | CA384900441 | ACVRL1 | c.550T>G (p.Trp184Gly) c.820T>G (p.Trp274Gly) c.298T>G (p.Trp100Gly) c.862T>G (p.Trp288Gly) c.31T>G (p.Trp11Gly) | |
| 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.51915273G>A | CA384900443 | ACVRL1 | c.551G>A (p.Trp184Ter) c.821G>A (p.Trp274Ter) c.299G>A (p.Trp100Ter) c.863G>A (p.Trp288Ter) c.32G>A (p.Trp11Ter) | |
| 12 | g.51915273G>C | CA384900445 | ACVRL1 | c.551G>C (p.Trp184Ser) c.821G>C (p.Trp274Ser) c.299G>C (p.Trp100Ser) c.863G>C (p.Trp288Ser) c.32G>C (p.Trp11Ser) | |
| 12 | g.51915273G>T | CA384900446 | ACVRL1 | c.551G>T (p.Trp184Leu) c.821G>T (p.Trp274Leu) c.299G>T (p.Trp100Leu) c.863G>T (p.Trp288Leu) c.32G>T (p.Trp11Leu) | COSMIC COSMIC |
| 12 | g.51915274G>A | CA6573002 | ACVRL1 | c.552G>A (p.Trp184Ter) c.822G>A (p.Trp274Ter) c.300G>A (p.Trp100Ter) c.864G>A (p.Trp288Ter) c.33G>A (p.Trp11Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915274G>C | CA384900449 | ACVRL1 | c.552G>C (p.Trp184Cys) c.822G>C (p.Trp274Cys) c.300G>C (p.Trp100Cys) c.864G>C (p.Trp288Cys) c.33G>C (p.Trp11Cys) | |
| 12 | g.51915274G= | CA2036269434 | ACVRL1 | c.552G= (p.Trp184=) c.822G= (p.Trp274=) c.300G= (p.Trp100=) c.864G= (p.Trp288=) c.33G= (p.Trp11=) | |
| 12 | g.51915274G>T | CA384900451 | ACVRL1 | c.552G>T (p.Trp184Cys) c.822G>T (p.Trp274Cys) c.300G>T (p.Trp100Cys) c.864G>T (p.Trp288Cys) c.33G>T (p.Trp11Cys) | ClinVar dbSNP |
| 12 | g.51915275C>A | CA6573003 | ACVRL1 | c.553C>A (p.Leu185Ile) c.823C>A (p.Leu275Ile) c.301C>A (p.Leu101Ile) c.865C>A (p.Leu289Ile) c.34C>A (p.Leu12Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915275C= | CA2036269435 | ACVRL1 | c.553C= (p.Leu185=) c.823C= (p.Leu275=) c.301C= (p.Leu101=) c.865C= (p.Leu289=) c.34C= (p.Leu12=) | |
| 12 | g.51915275C>G | CA384900453 | ACVRL1 | c.553C>G (p.Leu185Val) c.823C>G (p.Leu275Val) c.301C>G (p.Leu101Val) c.865C>G (p.Leu289Val) c.34C>G (p.Leu12Val) | |
| 12 | g.51915275C>T | CA384900455 | ACVRL1 | c.553C>T (p.Leu185Phe) c.823C>T (p.Leu275Phe) c.301C>T (p.Leu101Phe) c.865C>T (p.Leu289Phe) c.34C>T (p.Leu12Phe) | |
| 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 |