UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68780575C>A | CA679627002 | CPT1A | c.1458+65G>T (n.1458+65G>T) c.1554+65G>T (n.1554+65G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780575C>T | CA599988960 | CPT1A | c.1458+65G>A (n.1458+65G>A) c.1554+65G>A (n.1554+65G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780576G>A | CA223373679 | CPT1A | c.1458+64C>T (n.1458+64C>T) c.1554+64C>T (n.1554+64C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780576G>T | CA939175896 | CPT1A | c.1458+64C>A (n.1458+64C>A) c.1554+64C>A (n.1554+64C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780578C>A | CA2614734769 | CPT1A | c.1458+62G>T (n.1458+62G>T) c.1554+62G>T (n.1554+62G>T) | gnomAD v4 |
| 11 | g.68780579T>C | CA2614734770 | CPT1A | c.1458+61A>G (n.1458+61A>G) c.1554+61A>G (n.1554+61A>G) | gnomAD v4 |
| 11 | g.68780580G>T | CA2574903198 | CPT1A | c.1458+60C>A (n.1458+60C>A) c.1554+60C>A (n.1554+60C>A) | gnomAD v4 |
| 11 | g.68780581del | CA2614734771 | CPT1A | c.1458+60del (n.1458+60del) c.1554+60del (n.1554+60del) | gnomAD v4 |
| 11 | g.68780581G>A | CA2614734772 | CPT1A | c.1458+59C>T (n.1458+59C>T) c.1554+59C>T (n.1554+59C>T) | gnomAD v4 |
| 11 | g.68780581G>T | CA2574903199 | CPT1A | c.1458+59C>A (n.1458+59C>A) c.1554+59C>A (n.1554+59C>A) | |
| 11 | g.68780584A>G | CA2574903200 | CPT1A | c.1458+56T>C (n.1458+56T>C) c.1554+56T>C (n.1554+56T>C) | gnomAD v4 |
| 11 | g.68780585G>T | CA2614734773 | CPT1A | c.1458+55C>A (n.1458+55C>A) c.1554+55C>A (n.1554+55C>A) | gnomAD v4 |
| 11 | g.68780586G>A | CA2614734774 | CPT1A | c.1458+54C>T (n.1458+54C>T) c.1554+54C>T (n.1554+54C>T) | gnomAD v4 |
| 11 | g.68780586G>T | CA2614734776 | CPT1A | c.1458+54C>A (n.1458+54C>A) c.1554+54C>A (n.1554+54C>A) | gnomAD v4 |
| 11 | g.68780589T>G | CA2614734777 | CPT1A | c.1458+51A>C (n.1458+51A>C) c.1554+51A>C (n.1554+51A>C) | gnomAD v4 |
| 11 | g.68780590G>T | CA2574903201 | CPT1A | c.1458+50C>A (n.1458+50C>A) c.1554+50C>A (n.1554+50C>A) | gnomAD v4 |
| 11 | g.68780593T>C | CA2614734778 | CPT1A | c.1458+47A>G (n.1458+47A>G) c.1554+47A>G (n.1554+47A>G) | gnomAD v4 |
| 11 | g.68780597C>G | CA2614734779 | CPT1A | c.1458+43G>C (n.1458+43G>C) c.1554+43G>C (n.1554+43G>C) | gnomAD v4 |
| 11 | g.68780598A>G | CA599988961 | CPT1A | c.1458+42T>C (n.1458+42T>C) c.1554+42T>C (n.1554+42T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780601dup | CA2792552933 | CPT1A | c.1458+42dup (n.1458+42dup) c.1554+42dup (n.1554+42dup) | |
| 11 | g.68780602G>T | CA2614734780 | CPT1A | c.1458+38C>A (n.1458+38C>A) c.1554+38C>A (n.1554+38C>A) | gnomAD v4 |
| 11 | g.68780603C>T | CA2614734781 | CPT1A | c.1458+37G>A (n.1458+37G>A) c.1554+37G>A (n.1554+37G>A) | dbSNP gnomAD v4 |
| 11 | g.68780604A>C | CA2614734782 | CPT1A | c.1458+36T>G (n.1458+36T>G) c.1554+36T>G (n.1554+36T>G) | gnomAD v4 |
| 11 | g.68780606C>A | CA679627012 | CPT1A | c.1458+34G>T (n.1458+34G>T) c.1554+34G>T (n.1554+34G>T) | dbSNP |
| 11 | g.68780606C>T | CA599988962 | CPT1A | c.1458+34G>A (n.1458+34G>A) c.1554+34G>A (n.1554+34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780607T>C | CA6152303 | CPT1A | c.1458+33A>G (n.1458+33A>G) c.1554+33A>G (n.1554+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780612del | CA2614734783 | CPT1A | c.1458+28del (n.1458+28del) c.1554+28del (n.1554+28del) | gnomAD v4 |
| 11 | g.68780613A>T | CA6152304 | CPT1A | c.1458+27T>A (n.1458+27T>A) c.1554+27T>A (n.1554+27T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780614T>C | CA2502225415 | CPT1A | c.1458+26A>G (n.1458+26A>G) c.1554+26A>G (n.1554+26A>G) | |
| 11 | g.68780615T>C | CA2574903202 | CPT1A | c.1458+25A>G (n.1458+25A>G) c.1554+25A>G (n.1554+25A>G) | |
| 11 | g.68780617A>C | CA679627021 | CPT1A | c.1458+23T>G (n.1458+23T>G) c.1554+23T>G (n.1554+23T>G) | dbSNP |
| 11 | g.68780618A>G | CA2724278946 | CPT1A | c.1458+22T>C (n.1458+22T>C) c.1554+22T>C (n.1554+22T>C) | dbSNP |
| 11 | g.68780619G>T | CA2614734784 | CPT1A | c.1458+21C>A (n.1458+21C>A) c.1554+21C>A (n.1554+21C>A) | gnomAD v4 |
| 11 | g.68780620T>C | CA2614734785 | CPT1A | c.1458+20A>G (n.1458+20A>G) c.1554+20A>G (n.1554+20A>G) | gnomAD v4 |
| 11 | g.68780621G>C | CA2614734786 | CPT1A | c.1458+19C>G (n.1458+19C>G) c.1554+19C>G (n.1554+19C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780621G>T | CA2614734787 | CPT1A | c.1458+19C>A (n.1458+19C>A) c.1554+19C>A (n.1554+19C>A) | gnomAD v4 |
| 11 | g.68780623A>G | CA599988963 | CPT1A | c.1458+17T>C (n.1458+17T>C) c.1554+17T>C (n.1554+17T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780623A>T | CA6152305 | CPT1A | c.1458+17T>A (n.1458+17T>A) c.1554+17T>A (n.1554+17T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780626G>A | CA2614734788 | CPT1A | c.1458+14C>T (n.1458+14C>T) c.1554+14C>T (n.1554+14C>T) | gnomAD v4 |
| 11 | g.68780626G>C | CA2614734790 | CPT1A | c.1458+14C>G (n.1458+14C>G) c.1554+14C>G (n.1554+14C>G) | dbSNP gnomAD v4 |
| 11 | g.68780626G>T | CA2614734789 | CPT1A | c.1458+14C>A (n.1458+14C>A) c.1554+14C>A (n.1554+14C>A) | gnomAD v4 |
| 11 | g.68780631A>G | CA2739270620 | CPT1A | c.1458+9T>C (n.1458+9T>C) c.1554+9T>C (n.1554+9T>C) | ClinVar |
| 11 | g.68780632A>C | CA2499221271 | CPT1A | c.1458+8T>G (n.1458+8T>G) c.1554+8T>G (n.1554+8T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780632A>T | CA2614734791 | CPT1A | c.1458+8T>A (n.1458+8T>A) c.1554+8T>A (n.1554+8T>A) | gnomAD v4 |
| 11 | g.68780635C>T | CA599988964 | CPT1A | c.1458+5G>A (n.1458+5G>A) c.1554+5G>A (n.1554+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780637C>T | CA939175907 | CPT1A | c.1458+3G>A (n.1458+3G>A) c.1554+3G>A (n.1554+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780638A>C | CA381630660 | CPT1A | c.1458+2T>G (n.1458+2T>G) c.1554+2T>G (n.1554+2T>G) | |
| 11 | g.68780638A>G | CA381630662 | CPT1A | c.1458+2T>C (n.1458+2T>C) c.1554+2T>C (n.1554+2T>C) | |
| 11 | g.68780638A>T | CA381630661 | CPT1A | c.1458+2T>A (n.1458+2T>A) c.1554+2T>A (n.1554+2T>A) | |
| 11 | g.68780639C>A | CA381630663 | CPT1A | c.1458+1G>T (n.1458+1G>T) c.1554+1G>T (n.1554+1G>T) | gnomAD v4 |
| 11 | g.68780639C>G | CA381630665 | CPT1A | c.1458+1G>C (n.1458+1G>C) c.1554+1G>C (n.1554+1G>C) | |
| 11 | g.68780639C>T | CA381630664 | CPT1A | c.1458+1G>A (n.1458+1G>A) c.1554+1G>A (n.1554+1G>A) | ClinVar dbSNP |
| 11 | g.68780641_68780644del | CA475192439 | CPT1A | c.1456_1458+1del c.1552_1554+1del | |
| 11 | g.68780640C>A | CA381630666 | CPT1A | c.1458G>T (p.Glu486Asp) c.1554G>T (p.Glu518Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780640C>G | CA381630667 | CPT1A | c.1458G>C (p.Glu486Asp) c.1554G>C (p.Glu518Asp) | |
| 11 | g.68780640C>T | CA475192441 | CPT1A | c.1458G>A (p.Glu486=) c.1554G>A (p.Glu518=) | |
| 11 | g.68780641T>A | CA381630668 | CPT1A | c.1457A>T (p.Glu486Val) c.1553A>T (p.Glu518Val) | |
| 11 | g.68780641T>C | CA381630669 | CPT1A | c.1457A>G (p.Glu486Gly) c.1553A>G (p.Glu518Gly) | |
| 11 | g.68780641T>G | CA381630670 | CPT1A | c.1457A>C (p.Glu486Ala) c.1553A>C (p.Glu518Ala) | |
| 11 | g.68780642C>A | CA381630671 | CPT1A | c.1456G>T (p.Glu486Ter) c.1552G>T (p.Glu518Ter) | |
| 11 | g.68780642C>G | CA381630672 | CPT1A | c.1456G>C (p.Glu486Gln) c.1552G>C (p.Glu518Gln) | |
| 11 | g.68780642C>T | CA381630673 | CPT1A | c.1456G>A (p.Glu486Lys) c.1552G>A (p.Glu518Lys) | |
| 11 | g.68780643C>A | CA381630674 | CPT1A | c.1455G>T (p.Trp485Cys) c.1551G>T (p.Trp517Cys) | |
| 11 | g.68780643C>G | CA381630675 | CPT1A | c.1455G>C (p.Trp485Cys) c.1551G>C (p.Trp517Cys) | |
| 11 | g.68780643C>T | CA381630676 | CPT1A | c.1455G>A (p.Trp485Ter) c.1551G>A (p.Trp517Ter) | |
| 11 | g.68780644C>A | CA381630679 | CPT1A | c.1454G>T (p.Trp485Leu) c.1550G>T (p.Trp517Leu) | |
| 11 | g.68780644C>G | CA381630678 | CPT1A | c.1454G>C (p.Trp485Ser) c.1550G>C (p.Trp517Ser) | |
| 11 | g.68780644C>T | CA381630677 | CPT1A | c.1454G>A (p.Trp485Ter) c.1550G>A (p.Trp517Ter) | |
| 11 | g.68780645A>C | CA381630680 | CPT1A | c.1453T>G (p.Trp485Gly) c.1549T>G (p.Trp517Gly) | |
| 11 | g.68780645A>G | CA381630681 | CPT1A | c.1453T>C (p.Trp485Arg) c.1549T>C (p.Trp517Arg) | |
| 11 | g.68780645A>T | CA381630682 | CPT1A | c.1453T>A (p.Trp485Arg) c.1549T>A (p.Trp517Arg) | |
| 11 | g.68780646A>C | CA475192477 | CPT1A | c.1452T>G (p.Leu484=) c.1548T>G (p.Leu516=) | |
| 11 | g.68780646A>G | CA475192488 | CPT1A | c.1452T>C (p.Leu484=) c.1548T>C (p.Leu516=) | |
| 11 | g.68780646A>T | CA475192484 | CPT1A | c.1452T>A (p.Leu484=) c.1548T>A (p.Leu516=) | |
| 11 | g.68780647A>C | CA381630683 | CPT1A | c.1451T>G (p.Leu484Arg) c.1547T>G (p.Leu516Arg) | |
| 11 | g.68780647A>G | CA344970 | CPT1A | c.1451T>C (p.Leu484Pro) c.1547T>C (p.Leu516Pro) | ClinVar dbSNP |
| 11 | g.68780647A>T | CA381630684 | CPT1A | c.1451T>A (p.Leu484His) c.1547T>A (p.Leu516His) | |
| 11 | g.68780647_68780648del | CA2792552934 | CPT1A | c.1450_1451del (p.Trp485GlyfsTer7) c.1546_1547del (p.Trp517GlyfsTer7) | |
| 11 | g.68780648G>A | CA381630685 | CPT1A | c.1450C>T (p.Leu484Phe) c.1546C>T (p.Leu516Phe) | |
| 11 | g.68780648G>C | CA381630686 | CPT1A | c.1450C>G (p.Leu484Val) c.1546C>G (p.Leu516Val) | COSMIC COSMIC |
| 11 | g.68780648G>T | CA381630687 | CPT1A | c.1450C>A (p.Leu484Ile) c.1546C>A (p.Leu516Ile) | |
| 11 | g.68780649G>A | CA475192507 | CPT1A | c.1449C>T (p.His483=) c.1545C>T (p.His515=) | ClinVar COSMIC COSMIC |
| 11 | g.68780649G>C | CA381630688 | CPT1A | c.1449C>G (p.His483Gln) c.1545C>G (p.His515Gln) | |
| 11 | g.68780649G>T | CA381630689 | CPT1A | c.1449C>A (p.His483Gln) c.1545C>A (p.His515Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780650T>A | CA381630692 | CPT1A | c.1448A>T (p.His483Leu) c.1544A>T (p.His515Leu) | |
| 11 | g.68780650T>C | CA381630691 | CPT1A | c.1448A>G (p.His483Arg) c.1544A>G (p.His515Arg) | |
| 11 | g.68780650T>G | CA381630690 | CPT1A | c.1448A>C (p.His483Pro) c.1544A>C (p.His515Pro) | |
| 11 | g.68780651G>A | CA381630693 | CPT1A | c.1447C>T (p.His483Tyr) c.1543C>T (p.His515Tyr) | |
| 11 | g.68780651G>C | CA381630694 | CPT1A | c.1447C>G (p.His483Asp) c.1543C>G (p.His515Asp) | |
| 11 | g.68780651G>T | CA381630695 | CPT1A | c.1447C>A (p.His483Asn) c.1543C>A (p.His515Asn) | |
| 11 | g.68780652G>A | CA475192550 | CPT1A | c.1446C>T (p.Ala482=) c.1542C>T (p.Ala514=) | |
| 11 | g.68780652G>C | CA475192554 | CPT1A | c.1446C>G (p.Ala482=) c.1542C>G (p.Ala514=) | |
| 11 | g.68780652G>T | CA475192552 | CPT1A | c.1446C>A (p.Ala482=) c.1542C>A (p.Ala514=) | |
| 11 | g.68780653G>A | CA381630696 | CPT1A | c.1445C>T (p.Ala482Val) c.1541C>T (p.Ala514Val) | |
| 11 | g.68780653G>C | CA381630697 | CPT1A | c.1445C>G (p.Ala482Gly) c.1541C>G (p.Ala514Gly) | |
| 11 | g.68780653G>T | CA381630698 | CPT1A | c.1445C>A (p.Ala482Asp) c.1541C>A (p.Ala514Asp) | |
| 11 | g.68780654C>A | CA381630699 | CPT1A | c.1444G>T (p.Ala482Ser) c.1540G>T (p.Ala514Ser) | |
| 11 | g.68780654C>G | CA381630700 | CPT1A | c.1444G>C (p.Ala482Pro) c.1540G>C (p.Ala514Pro) | |
| 11 | g.68780654C>T | CA381630701 | CPT1A | c.1444G>A (p.Ala482Thr) c.1540G>A (p.Ala514Thr) | |
| 11 | g.68780655C>A | CA475192586 | CPT1A | c.1443G>T (p.Val481=) c.1539G>T (p.Val513=) | |
| 11 | g.68780655C>G | CA475192587 | CPT1A | c.1443G>C (p.Val481=) c.1539G>C (p.Val513=) | |
| 11 | g.68780655C>T | CA475192588 | CPT1A | c.1443G>A (p.Val481=) c.1539G>A (p.Val513=) | gnomAD v4 |
| 11 | g.68780656A>C | CA381630702 | CPT1A | c.1442T>G (p.Val481Gly) c.1538T>G (p.Val513Gly) | |
| 11 | g.68780656A>G | CA381630703 | CPT1A | c.1442T>C (p.Val481Ala) c.1538T>C (p.Val513Ala) | |
| 11 | g.68780656A>T | CA381630704 | CPT1A | c.1442T>A (p.Val481Glu) c.1538T>A (p.Val513Glu) | |
| 11 | g.68780657C>A | CA381630706 | CPT1A | c.1441G>T (p.Val481Leu) c.1537G>T (p.Val513Leu) | |
| 11 | g.68780657C>G | CA381630705 | CPT1A | c.1441G>C (p.Val481Leu) c.1537G>C (p.Val513Leu) | |
| 11 | g.68780657C>T | CA6152306 | CPT1A | c.1441G>A (p.Val481Met) c.1537G>A (p.Val513Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780659_68780665del | CA2580084732 | CPT1A | c.1435_1441del (p.Pro479TrpfsTer?) c.1531_1537del (p.Pro511TrpfsTer?) | ClinVar |
| 11 | g.68780658G>A | CA6152307 | CPT1A | c.1440C>T (p.Ile480=) c.1536C>T (p.Ile512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68780658G>C | CA381630707 | CPT1A | c.1440C>G (p.Ile480Met) c.1536C>G (p.Ile512Met) | |
| 11 | g.68780658G>T | CA475192630 | CPT1A | c.1440C>A (p.Ile480=) c.1536C>A (p.Ile512=) | gnomAD v4 |
| 11 | g.68780659A>C | CA381630708 | CPT1A | c.1439T>G (p.Ile480Ser) c.1535T>G (p.Ile512Ser) | |
| 11 | g.68780659A>G | CA381630709 | CPT1A | c.1439T>C (p.Ile480Thr) c.1535T>C (p.Ile512Thr) | |
| 11 | g.68780659A>T | CA381630710 | CPT1A | c.1439T>A (p.Ile480Asn) c.1535T>A (p.Ile512Asn) | |
| 11 | g.68780660T>A | CA381630711 | CPT1A | c.1438A>T (p.Ile480Phe) c.1534A>T (p.Ile512Phe) | |
| 11 | g.68780660T>C | CA381630712 | CPT1A | c.1438A>G (p.Ile480Val) c.1534A>G (p.Ile512Val) | gnomAD v4 |
| 11 | g.68780660T>G | CA381630713 | CPT1A | c.1438A>C (p.Ile480Leu) c.1534A>C (p.Ile512Leu) | |
| 11 | g.68780661C>A | CA223373703 | CPT1A | c.1437G>T (p.Pro479=) c.1533G>T (p.Pro511=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780661C>G | CA475192653 | CPT1A | c.1437G>C (p.Pro479=) c.1533G>C (p.Pro511=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780661C>T | CA6152308 | CPT1A | c.1437G>A (p.Pro479=) c.1533G>A (p.Pro511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780662G>A | CA221853 | CPT1A | c.1436C>T (p.Pro479Leu) c.1532C>T (p.Pro511Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780662G>C | CA381630714 | CPT1A | c.1436C>G (p.Pro479Arg) c.1532C>G (p.Pro511Arg) | |
| 11 | g.68780662G= | CA2580600325 | CPT1A | c.1436C= (p.Pro479=) c.1532C= (p.Pro511=) | |
| 11 | g.68780662G>T | CA381630715 | CPT1A | c.1436C>A (p.Pro479Gln) c.1532C>A (p.Pro511Gln) | |
| 11 | g.68780663G>A | CA381630717 | CPT1A | c.1435C>T (p.Pro479Ser) c.1531C>T (p.Pro511Ser) | |
| 11 | g.68780663G>C | CA381630718 | CPT1A | c.1435C>G (p.Pro479Ala) c.1531C>G (p.Pro511Ala) | |
| 11 | g.68780663G>T | CA381630716 | CPT1A | c.1435C>A (p.Pro479Thr) c.1531C>A (p.Pro511Thr) | |
| 11 | g.68780664C>A | CA475192690 | CPT1A | c.1434G>T (p.Ala478=) c.1530G>T (p.Ala510=) | |
| 11 | g.68780664C>G | CA475192691 | CPT1A | c.1434G>C (p.Ala478=) c.1530G>C (p.Ala510=) | |
| 11 | g.68780664C>T | CA6152309 | CPT1A | c.1434G>A (p.Ala478=) c.1530G>A (p.Ala510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780665G>A | CA381630719 | CPT1A | c.1433C>T (p.Ala478Val) c.1529C>T (p.Ala510Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780665G>C | CA381630720 | CPT1A | c.1433C>G (p.Ala478Gly) c.1529C>G (p.Ala510Gly) | |
| 11 | g.68780665G>T | CA381630721 | CPT1A | c.1433C>A (p.Ala478Glu) c.1529C>A (p.Ala510Glu) | |
| 11 | g.68780666C>A | CA381630722 | CPT1A | c.1432G>T (p.Ala478Ser) c.1528G>T (p.Ala510Ser) | COSMIC |
| 11 | g.68780666C>G | CA381630723 | CPT1A | c.1432G>C (p.Ala478Pro) c.1528G>C (p.Ala510Pro) | |
| 11 | g.68780666C>T | CA381630724 | CPT1A | c.1432G>A (p.Ala478Thr) c.1528G>A (p.Ala510Thr) | |
| 11 | g.68780667A>C | CA381630725 | CPT1A | c.1431T>G (p.Asp477Glu) c.1527T>G (p.Asp509Glu) | |
| 11 | g.68780667A>G | CA475192714 | CPT1A | c.1431T>C (p.Asp477=) c.1527T>C (p.Asp509=) | |
| 11 | g.68780667A>T | CA381630726 | CPT1A | c.1431T>A (p.Asp477Glu) c.1527T>A (p.Asp509Glu) | |
| 11 | g.68780668T>A | CA381630727 | CPT1A | c.1430A>T (p.Asp477Val) c.1526A>T (p.Asp509Val) | |
| 11 | g.68780668T>C | CA381630728 | CPT1A | c.1430A>G (p.Asp477Gly) c.1526A>G (p.Asp509Gly) | |
| 11 | g.68780668T>G | CA381630729 | CPT1A | c.1430A>C (p.Asp477Ala) c.1526A>C (p.Asp509Ala) | |
| 11 | g.68780669C>A | CA381630730 | CPT1A | c.1429G>T (p.Asp477Tyr) c.1525G>T (p.Asp509Tyr) | COSMIC COSMIC |
| 11 | g.68780669C>G | CA381630731 | CPT1A | c.1429G>C (p.Asp477His) c.1525G>C (p.Asp509His) | |
| 11 | g.68780669C>T | CA381630732 | CPT1A | c.1429G>A (p.Asp477Asn) c.1525G>A (p.Asp509Asn) | |
| 11 | g.68780670T>A | CA475192759 | CPT1A | c.1428A>T (p.Ala476=) c.1524A>T (p.Ala508=) | |
| 11 | g.68780670T>C | CA475192760 | CPT1A | c.1428A>G (p.Ala476=) c.1524A>G (p.Ala508=) | |
| 11 | g.68780670T>G | CA475192761 | CPT1A | c.1428A>C (p.Ala476=) c.1524A>C (p.Ala508=) | |
| 11 | g.68780671G>A | CA381630733 | CPT1A | c.1427C>T (p.Ala476Val) c.1523C>T (p.Ala508Val) | |
| 11 | g.68780671G>C | CA381630735 | CPT1A | c.1427C>G (p.Ala476Gly) c.1523C>G (p.Ala508Gly) | |
| 11 | g.68780671G>T | CA381630734 | CPT1A | c.1427C>A (p.Ala476Glu) c.1523C>A (p.Ala508Glu) | |
| 11 | g.68780672C>A | CA381630736 | CPT1A | c.1426G>T (p.Ala476Ser) c.1522G>T (p.Ala508Ser) | |
| 11 | g.68780672C>G | CA381630737 | CPT1A | c.1426G>C (p.Ala476Pro) c.1522G>C (p.Ala508Pro) | |
| 11 | g.68780672C>T | CA381630738 | CPT1A | c.1426G>A (p.Ala476Thr) c.1522G>A (p.Ala508Thr) | |
| 11 | g.68780673C>A | CA381630739 | CPT1A | c.1425G>T (p.Trp475Cys) c.1521G>T (p.Trp507Cys) | |
| 11 | g.68780673C= | CA2581028848 | CPT1A | c.1425G= (p.Trp475=) c.1521G= (p.Trp507=) | |
| 11 | g.68780673C>G | CA381630740 | CPT1A | c.1425G>C (p.Trp475Cys) c.1521G>C (p.Trp507Cys) | |
| 11 | g.68780673C>T | CA344967 | CPT1A | c.1425G>A (p.Trp475Ter) c.1521G>A (p.Trp507Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780674C>A | CA381630741 | CPT1A | c.1424G>T (p.Trp475Leu) c.1520G>T (p.Trp507Leu) | |
| 11 | g.68780674C>G | CA381630742 | CPT1A | c.1424G>C (p.Trp475Ser) c.1520G>C (p.Trp507Ser) | |
| 11 | g.68780674C>T | CA381630743 | CPT1A | c.1424G>A (p.Trp475Ter) c.1520G>A (p.Trp507Ter) |