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.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) | |
| 11 | g.68780675A>C | CA381630744 | CPT1A | c.1423T>G (p.Trp475Gly) c.1519T>G (p.Trp507Gly) | |
| 11 | g.68780675A>G | CA381630745 | CPT1A | c.1423T>C (p.Trp475Arg) c.1519T>C (p.Trp507Arg) | |
| 11 | g.68780675A>T | CA381630746 | CPT1A | c.1423T>A (p.Trp475Arg) c.1519T>A (p.Trp507Arg) | |
| 11 | g.68780676G>A | CA475192811 | CPT1A | c.1422C>T (p.Ser474=) c.1518C>T (p.Ser506=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780676G>C | CA475192814 | CPT1A | c.1422C>G (p.Ser474=) c.1518C>G (p.Ser506=) | |
| 11 | g.68780676G>T | CA475192818 | CPT1A | c.1422C>A (p.Ser474=) c.1518C>A (p.Ser506=) | |
| 11 | g.68780677G>A | CA381630747 | CPT1A | c.1421C>T (p.Ser474Phe) c.1517C>T (p.Ser506Phe) | |
| 11 | g.68780677G>C | CA381630749 | CPT1A | c.1421C>G (p.Ser474Cys) c.1517C>G (p.Ser506Cys) | |
| 11 | g.68780677G>T | CA381630748 | CPT1A | c.1421C>A (p.Ser474Tyr) c.1517C>A (p.Ser506Tyr) | |
| 11 | g.68780678A>C | CA381630750 | CPT1A | c.1420T>G (p.Ser474Ala) c.1516T>G (p.Ser506Ala) | |
| 11 | g.68780678A>G | CA381630751 | CPT1A | c.1420T>C (p.Ser474Pro) c.1516T>C (p.Ser506Pro) | |
| 11 | g.68780678A>T | CA381630752 | CPT1A | c.1420T>A (p.Ser474Thr) c.1516T>A (p.Ser506Thr) | |
| 11 | g.68780679G>A | CA475192835 | CPT1A | c.1419C>T (p.His473=) c.1515C>T (p.His505=) | |
| 11 | g.68780679G>C | CA381630753 | CPT1A | c.1419C>G (p.His473Gln) c.1515C>G (p.His505Gln) | gnomAD v4 |
| 11 | g.68780679G>T | CA381630754 | CPT1A | c.1419C>A (p.His473Gln) c.1515C>A (p.His505Gln) | |
| 11 | g.68780680T>A | CA381630755 | CPT1A | c.1418A>T (p.His473Leu) c.1514A>T (p.His505Leu) | |
| 11 | g.68780680T>C | CA381630756 | CPT1A | c.1418A>G (p.His473Arg) c.1514A>G (p.His505Arg) | dbSNP gnomAD v4 |
| 11 | g.68780680T>G | CA381630757 | CPT1A | c.1418A>C (p.His473Pro) c.1514A>C (p.His505Pro) | |
| 11 | g.68780681G>A | CA381630758 | CPT1A | c.1417C>T (p.His473Tyr) c.1513C>T (p.His505Tyr) | gnomAD v4 |
| 11 | g.68780681G>C | CA381630759 | CPT1A | c.1417C>G (p.His473Asp) c.1513C>G (p.His505Asp) | |
| 11 | g.68780681G>T | CA381630760 | CPT1A | c.1417C>A (p.His473Asn) c.1513C>A (p.His505Asn) | |
| 11 | g.68780682T>A | CA381630761 | CPT1A | c.1416A>T (p.Glu472Asp) c.1512A>T (p.Glu504Asp) | |
| 11 | g.68780682T>C | CA475192864 | CPT1A | c.1416A>G (p.Glu472=) c.1512A>G (p.Glu504=) | |
| 11 | g.68780682T>G | CA381630762 | CPT1A | c.1416A>C (p.Glu472Asp) c.1512A>C (p.Glu504Asp) | |
| 11 | g.68780683T>A | CA381630765 | CPT1A | c.1415A>T (p.Glu472Val) c.1511A>T (p.Glu504Val) | |
| 11 | g.68780683T>C | CA381630763 | CPT1A | c.1415A>G (p.Glu472Gly) c.1511A>G (p.Glu504Gly) | |
| 11 | g.68780683T>G | CA381630764 | CPT1A | c.1415A>C (p.Glu472Ala) c.1511A>C (p.Glu504Ala) | |
| 11 | g.68780684C>A | CA381630766 | CPT1A | c.1414G>T (p.Glu472Ter) c.1510G>T (p.Glu504Ter) | |
| 11 | g.68780684C>G | CA381630767 | CPT1A | c.1414G>C (p.Glu472Gln) c.1510G>C (p.Glu504Gln) | |
| 11 | g.68780684C>T | CA381630768 | CPT1A | c.1414G>A (p.Glu472Lys) c.1510G>A (p.Glu504Lys) | |
| 11 | g.68780685A>C | CA475192890 | CPT1A | c.1413T>G (p.Ala471=) c.1509T>G (p.Ala503=) | |
| 11 | g.68780685A>G | CA475192892 | CPT1A | c.1413T>C (p.Ala471=) c.1509T>C (p.Ala503=) | dbSNP |
| 11 | g.68780685A>T | CA475192895 | CPT1A | c.1413T>A (p.Ala471=) c.1509T>A (p.Ala503=) | |
| 11 | g.68780686G>A | CA381630769 | CPT1A | c.1412C>T (p.Ala471Val) c.1508C>T (p.Ala503Val) | |
| 11 | g.68780686G>C | CA381630770 | CPT1A | c.1412C>G (p.Ala471Gly) c.1508C>G (p.Ala503Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780686G>T | CA381630771 | CPT1A | c.1412C>A (p.Ala471Asp) c.1508C>A (p.Ala503Asp) | |
| 11 | g.68780687C>A | CA381630772 | CPT1A | c.1411G>T (p.Ala471Ser) c.1507G>T (p.Ala503Ser) | |
| 11 | g.68780687C>G | CA381630773 | CPT1A | c.1411G>C (p.Ala471Pro) c.1507G>C (p.Ala503Pro) | dbSNP |
| 11 | g.68780687C>T | CA381630774 | CPT1A | c.1411G>A (p.Ala471Thr) c.1507G>A (p.Ala503Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780688G>A | CA6152310 | CPT1A | c.1410C>T (p.Asn470=) c.1506C>T (p.Asn502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780688G>C | CA381630775 | CPT1A | c.1410C>G (p.Asn470Lys) c.1506C>G (p.Asn502Lys) | |
| 11 | g.68780688G>T | CA381630776 | CPT1A | c.1410C>A (p.Asn470Lys) c.1506C>A (p.Asn502Lys) | |
| 11 | g.68780689T>A | CA381630777 | CPT1A | c.1409A>T (p.Asn470Ile) c.1505A>T (p.Asn502Ile) | |
| 11 | g.68780689T>C | CA381630779 | CPT1A | c.1409A>G (p.Asn470Ser) c.1505A>G (p.Asn502Ser) | |
| 11 | g.68780689T>G | CA381630778 | CPT1A | c.1409A>C (p.Asn470Thr) c.1505A>C (p.Asn502Thr) | |
| 11 | g.68780690T>A | CA381630780 | CPT1A | c.1408A>T (p.Asn470Tyr) c.1504A>T (p.Asn502Tyr) | |
| 11 | g.68780690T>C | CA381630782 | CPT1A | c.1408A>G (p.Asn470Asp) c.1504A>G (p.Asn502Asp) | |
| 11 | g.68780690T>G | CA381630781 | CPT1A | c.1408A>C (p.Asn470His) c.1504A>C (p.Asn502His) | |
| 11 | g.68780691G>A | CA475192933 | CPT1A | c.1407C>T (p.Leu469=) c.1503C>T (p.Leu501=) | dbSNP gnomAD v4 |
| 11 | g.68780691G>C | CA475192936 | CPT1A | c.1407C>G (p.Leu469=) c.1503C>G (p.Leu501=) | |
| 11 | g.68780691G>T | CA475192939 | CPT1A | c.1407C>A (p.Leu469=) c.1503C>A (p.Leu501=) | |
| 11 | g.68780692_68780693del | CA2580084737 | CPT1A | c.1406_1407del (p.Leu469GlnfsTer3) c.1502_1503del (p.Leu501GlnfsTer3) | ClinVar |
| 11 | g.68780692A>C | CA381630783 | CPT1A | c.1406T>G (p.Leu469Arg) c.1502T>G (p.Leu501Arg) | |
| 11 | g.68780692A>G | CA381630785 | CPT1A | c.1406T>C (p.Leu469Pro) c.1502T>C (p.Leu501Pro) | |
| 11 | g.68780692A>T | CA381630784 | CPT1A | c.1406T>A (p.Leu469His) c.1502T>A (p.Leu501His) | |
| 11 | g.68780693G>A | CA381630786 | CPT1A | c.1405C>T (p.Leu469Phe) c.1501C>T (p.Leu501Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780693G>C | CA381630788 | CPT1A | c.1405C>G (p.Leu469Val) c.1501C>G (p.Leu501Val) | |
| 11 | g.68780693G>T | CA381630787 | CPT1A | c.1405C>A (p.Leu469Ile) c.1501C>A (p.Leu501Ile) | COSMIC COSMIC |
| 11 | g.68780694G>A | CA475192962 | CPT1A | c.1404C>T (p.Gly468=) c.1500C>T (p.Gly500=) | |
| 11 | g.68780694G>C | CA475192965 | CPT1A | c.1404C>G (p.Gly468=) c.1500C>G (p.Gly500=) | |
| 11 | g.68780694G>T | CA475192975 | CPT1A | c.1404C>A (p.Gly468=) c.1500C>A (p.Gly500=) | dbSNP |
| 11 | g.68780695C>A | CA381630789 | CPT1A | c.1403G>T (p.Gly468Val) c.1499G>T (p.Gly500Val) | |
| 11 | g.68780695C>G | CA381630790 | CPT1A | c.1403G>C (p.Gly468Ala) c.1499G>C (p.Gly500Ala) | |
| 11 | g.68780695C>T | CA381630791 | CPT1A | c.1403G>A (p.Gly468Asp) c.1499G>A (p.Gly500Asp) | COSMIC COSMIC |
| 11 | g.68780696C>A | CA381630792 | CPT1A | c.1402G>T (p.Gly468Cys) c.1498G>T (p.Gly500Cys) | |
| 11 | g.68780696C>G | CA381630793 | CPT1A | c.1402G>C (p.Gly468Arg) c.1498G>C (p.Gly500Arg) | |
| 11 | g.68780696C>T | CA381630794 | CPT1A | c.1402G>A (p.Gly468Ser) c.1498G>A (p.Gly500Ser) | |
| 11 | g.68780697C>A | CA381630795 | CPT1A | c.1401G>T (p.Met467Ile) c.1497G>T (p.Met499Ile) | |
| 11 | g.68780697C>G | CA381630796 | CPT1A | c.1401G>C (p.Met467Ile) c.1497G>C (p.Met499Ile) | |
| 11 | g.68780697C>T | CA381630797 | CPT1A | c.1401G>A (p.Met467Ile) c.1497G>A (p.Met499Ile) | |
| 11 | g.68780698A>C | CA381630798 | CPT1A | c.1400T>G (p.Met467Arg) c.1496T>G (p.Met499Arg) | |
| 11 | g.68780698A>G | CA381630799 | CPT1A | c.1400T>C (p.Met467Thr) c.1496T>C (p.Met499Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780698A>T | CA381630800 | CPT1A | c.1400T>A (p.Met467Lys) c.1496T>A (p.Met499Lys) | |
| 11 | g.68780699T>A | CA381630801 | CPT1A | c.1399A>T (p.Met467Leu) c.1495A>T (p.Met499Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780699T>C | CA381630803 | CPT1A | c.1399A>G (p.Met467Val) c.1495A>G (p.Met499Val) | gnomAD v4 |
| 11 | g.68780699T>G | CA381630802 | CPT1A | c.1399A>C (p.Met467Leu) c.1495A>C (p.Met499Leu) | |
| 11 | g.68780700C>A | CA381630804 | CPT1A | c.1398G>T (p.Lys466Asn) c.1494G>T (p.Lys498Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780700C>G | CA381630805 | CPT1A | c.1398G>C (p.Lys466Asn) c.1494G>C (p.Lys498Asn) | |
| 11 | g.68780700C>T | CA475193036 | CPT1A | c.1398G>A (p.Lys466=) c.1494G>A (p.Lys498=) | dbSNP |
| 11 | g.68780701T>A | CA381630806 | CPT1A | c.1397A>T (p.Lys466Met) c.1493A>T (p.Lys498Met) | |
| 11 | g.68780701T>C | CA381630807 | CPT1A | c.1397A>G (p.Lys466Arg) c.1493A>G (p.Lys498Arg) | |
| 11 | g.68780701T>G | CA381630808 | CPT1A | c.1397A>C (p.Lys466Thr) c.1493A>C (p.Lys498Thr) | |
| 11 | g.68780702T>A | CA381630809 | CPT1A | c.1396A>T (p.Lys466Ter) c.1492A>T (p.Lys498Ter) | |
| 11 | g.68780702T>C | CA381630810 | CPT1A | c.1396A>G (p.Lys466Glu) c.1492A>G (p.Lys498Glu) | |
| 11 | g.68780702T>G | CA381630811 | CPT1A | c.1396A>C (p.Lys466Gln) c.1492A>C (p.Lys498Gln) | |
| 11 | g.68780703C>A | CA475193067 | CPT1A | c.1395G>T (p.Gly465=) c.1491G>T (p.Gly497=) | ClinVar dbSNP |
| 11 | g.68780703C>G | CA6152311 | CPT1A | c.1395G>C (p.Gly465=) c.1491G>C (p.Gly497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780703C>T | CA475193076 | CPT1A | c.1395G>A (p.Gly465=) c.1491G>A (p.Gly497=) | ClinVar dbSNP |
| 11 | g.68780703_68780704insT | CA6152312 | CPT1A | c.1394_1395insA (p.Lys466GlufsTer7) c.1490_1491insA (p.Lys498GlufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780704C>A | CA6152313 | CPT1A | c.1394G>T (p.Gly465Val) c.1490G>T (p.Gly497Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780704C>G | CA381630812 | CPT1A | c.1394G>C (p.Gly465Ala) c.1490G>C (p.Gly497Ala) | |
| 11 | g.68780704C>T | CA16042851 | CPT1A | c.1394G>A (p.Gly465Glu) c.1490G>A (p.Gly497Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780705C>A | CA344965 | CPT1A | c.1393G>T (p.Gly465Trp) c.1489G>T (p.Gly497Trp) | ClinVar dbSNP |
| 11 | g.68780705C>G | CA381630813 | CPT1A | c.1393G>C (p.Gly465Arg) c.1489G>C (p.Gly497Arg) | |
| 11 | g.68780705C>T | CA6152314 | CPT1A | c.1393G>A (p.Gly465Arg) c.1489G>A (p.Gly497Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780706G>A | CA6152315 | CPT1A | c.1392C>T (p.Asn464=) c.1488C>T (p.Asn496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780706G>C | CA381630814 | CPT1A | c.1392C>G (p.Asn464Lys) c.1488C>G (p.Asn496Lys) | |
| 11 | g.68780706G>T | CA381630815 | CPT1A | c.1392C>A (p.Asn464Lys) c.1488C>A (p.Asn496Lys) | |
| 11 | g.68780707T>A | CA381630816 | CPT1A | c.1391A>T (p.Asn464Ile) c.1487A>T (p.Asn496Ile) | |
| 11 | g.68780707T>C | CA381630817 | CPT1A | c.1391A>G (p.Asn464Ser) c.1487A>G (p.Asn496Ser) | |
| 11 | g.68780707T>G | CA381630818 | CPT1A | c.1391A>C (p.Asn464Thr) c.1487A>C (p.Asn496Thr) | |
| 11 | g.68780711dup | CA2614734798 | CPT1A | c.1391dup (p.Asn464LysfsTer9) c.1487dup (p.Asn496LysfsTer9) | gnomAD v4 |
| 11 | g.68780708T>A | CA381630819 | CPT1A | c.1390A>T (p.Asn464Tyr) c.1486A>T (p.Asn496Tyr) | |
| 11 | g.68780708T>C | CA381630820 | CPT1A | c.1390A>G (p.Asn464Asp) c.1486A>G (p.Asn496Asp) | |
| 11 | g.68780708T>G | CA381630821 | CPT1A | c.1390A>C (p.Asn464His) c.1486A>C (p.Asn496His) | |
| 11 | g.68780709T>A | CA381630823 | CPT1A | c.1389A>T (p.Lys463Asn) c.1485A>T (p.Lys495Asn) | |
| 11 | g.68780709T>C | CA475193142 | CPT1A | c.1389A>G (p.Lys463=) c.1485A>G (p.Lys495=) | |
| 11 | g.68780709T>G | CA381630822 | CPT1A | c.1389A>C (p.Lys463Asn) c.1485A>C (p.Lys495Asn) | |
| 11 | g.68780710T>A | CA381630824 | CPT1A | c.1388A>T (p.Lys463Ile) c.1484A>T (p.Lys495Ile) | |
| 11 | g.68780710T>C | CA381630825 | CPT1A | c.1388A>G (p.Lys463Arg) c.1484A>G (p.Lys495Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780710T>G | CA381630826 | CPT1A | c.1388A>C (p.Lys463Thr) c.1484A>C (p.Lys495Thr) | |
| 11 | g.68780711T>A | CA381630827 | CPT1A | c.1387A>T (p.Lys463Ter) c.1483A>T (p.Lys495Ter) | |
| 11 | g.68780711T>C | CA381630828 | CPT1A | c.1387A>G (p.Lys463Glu) c.1483A>G (p.Lys495Glu) | |
| 11 | g.68780711T>G | CA381630829 | CPT1A | c.1387A>C (p.Lys463Gln) c.1483A>C (p.Lys495Gln) | |
| 11 | g.68780712del | CA6152316 | CPT1A | c.1386del (p.Phe462LeufsTer?) c.1482del (p.Phe494LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780712G>A | CA475193171 | CPT1A | c.1386C>T (p.Phe462=) c.1482C>T (p.Phe494=) | gnomAD v4 |
| 11 | g.68780712G>C | CA381630830 | CPT1A | c.1386C>G (p.Phe462Leu) c.1482C>G (p.Phe494Leu) | |
| 11 | g.68780712G>T | CA381630831 | CPT1A | c.1386C>A (p.Phe462Leu) c.1482C>A (p.Phe494Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780713A>C | CA381630832 | CPT1A | c.1385T>G (p.Phe462Cys) c.1481T>G (p.Phe494Cys) | |
| 11 | g.68780713A>G | CA381630833 | CPT1A | c.1385T>C (p.Phe462Ser) c.1481T>C (p.Phe494Ser) | |
| 11 | g.68780713A>T | CA381630834 | CPT1A | c.1385T>A (p.Phe462Tyr) c.1481T>A (p.Phe494Tyr) | |
| 11 | g.68780714A>C | CA381630837 | CPT1A | c.1384T>G (p.Phe462Val) c.1480T>G (p.Phe494Val) | |
| 11 | g.68780714A>G | CA381630836 | CPT1A | c.1384T>C (p.Phe462Leu) c.1480T>C (p.Phe494Leu) | |
| 11 | g.68780714A>T | CA381630835 | CPT1A | c.1384T>A (p.Phe462Ile) c.1480T>A (p.Phe494Ile) | |
| 11 | g.68780715G>A | CA475193197 | CPT1A | c.1383C>T (p.Val461=) c.1479C>T (p.Val493=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780715G>C | CA475193203 | CPT1A | c.1383C>G (p.Val461=) c.1479C>G (p.Val493=) | |
| 11 | g.68780715G>T | CA475193200 | CPT1A | c.1383C>A (p.Val461=) c.1479C>A (p.Val493=) |