12 | g.5045589T>A | CA383466499 | KCNA5 | c.1442T>A (p.Val481Glu)
| |
12 | g.5045589T>C | CA383466500 | KCNA5 | c.1442T>C (p.Val481Ala)
| |
12 | g.5045589T>G | CA383466501 | KCNA5 | c.1442T>G (p.Val481Gly)
| |
12 | g.5045589dup | CA6399870 | KCNA5 | c.1442dup (p.Tyr483LeufsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045590G>A | CA478095946 | KCNA5 | c.1443G>A (p.Val481=)
| dbSNP |
12 | g.5045590G>C | CA478095948 | KCNA5 | c.1443G>C (p.Val481=)
| gnomAD v4 |
12 | g.5045590G= | CA2013431292 | KCNA5 | c.1443G= (p.Val481=)
| |
12 | g.5045590G>T | CA478095949 | KCNA5 | c.1443G>T (p.Val481=)
| |
12 | g.5045591G>A | CA383466503 | KCNA5 | c.1444G>A (p.Gly482Ser)
| |
12 | g.5045591G>C | CA383466504 | KCNA5 | c.1444G>C (p.Gly482Arg)
| |
12 | g.5045591G>T | CA383466502 | KCNA5 | c.1444G>T (p.Gly482Cys)
| |
12 | g.5045592G>A | CA383466507 | KCNA5 | c.1445G>A (p.Gly482Asp)
| |
12 | g.5045592G>C | CA383466505 | KCNA5 | c.1445G>C (p.Gly482Ala)
| |
12 | g.5045592G>T | CA383466506 | KCNA5 | c.1445G>T (p.Gly482Val)
| |
12 | g.5045593C>A | CA478095951 | KCNA5 | c.1446C>A (p.Gly482=)
| |
12 | g.5045593C>G | CA478095952 | KCNA5 | c.1446C>G (p.Gly482=)
| |
12 | g.5045593C>T | CA478095953 | KCNA5 | c.1446C>T (p.Gly482=)
| |
12 | g.5045594T>A | CA383466508 | KCNA5 | c.1447T>A (p.Tyr483Asn)
| |
12 | g.5045594T>C | CA383466509 | KCNA5 | c.1447T>C (p.Tyr483His)
| |
12 | g.5045594T>G | CA383466510 | KCNA5 | c.1447T>G (p.Tyr483Asp)
| |
12 | g.5045594_5045595delinsTA | CA2013431293 | KCNA5 | c.1447_1448delinsTA (p.Tyr483=)
| |
12 | g.5045595del | CA2013431294 | KCNA5 | c.1448del (p.Tyr483SerfsTer4)
| dbSNP |
12 | g.5045595A>C | CA383466511 | KCNA5 | c.1448A>C (p.Tyr483Ser)
| |
12 | g.5045595A>G | CA383466512 | KCNA5 | c.1448A>G (p.Tyr483Cys)
| |
12 | g.5045595A>T | CA383466513 | KCNA5 | c.1448A>T (p.Tyr483Phe)
| |
12 | g.5045596C>A | CA383466514 | KCNA5 | c.1449C>A (p.Tyr483Ter)
| |
12 | g.5045596C= | CA2013431295 | KCNA5 | c.1449C= (p.Tyr483=)
| |
12 | g.5045596C>G | CA383466515 | KCNA5 | c.1449C>G (p.Tyr483Ter)
| |
12 | g.5045596C>T | CA6399871 | KCNA5 | c.1449C>T (p.Tyr483=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045597G>A | CA231868985 | KCNA5 | c.1450G>A (p.Gly484Arg)
| dbSNP |
12 | g.5045597G>C | CA383466516 | KCNA5 | c.1450G>C (p.Gly484Arg)
| gnomAD v4 |
12 | g.5045597G= | CA2013431296 | KCNA5 | c.1450G= (p.Gly484=)
| |
12 | g.5045597G>T | CA383466517 | KCNA5 | c.1450G>T (p.Gly484Trp)
| gnomAD v4 |
12 | g.5045598G>A | CA383466520 | KCNA5 | c.1451G>A (p.Gly484Glu)
| |
12 | g.5045598G>C | CA383466519 | KCNA5 | c.1451G>C (p.Gly484Ala)
| |
12 | g.5045598G>T | CA383466518 | KCNA5 | c.1451G>T (p.Gly484Val)
| |
12 | g.5045599G>A | CA478095962 | KCNA5 | c.1452G>A (p.Gly484=)
| gnomAD v4 |
12 | g.5045599G>C | CA478095964 | KCNA5 | c.1452G>C (p.Gly484=)
| |
12 | g.5045599G>T | CA478095963 | KCNA5 | c.1452G>T (p.Gly484=)
| COSMIC |
12 | g.5045600G>A | CA383466521 | KCNA5 | c.1453G>A (p.Asp485Asn)
| gnomAD v4 COSMIC |
12 | g.5045600G>C | CA383466522 | KCNA5 | c.1453G>C (p.Asp485His)
| gnomAD v4 |
12 | g.5045600G>T | CA383466523 | KCNA5 | c.1453G>T (p.Asp485Tyr)
| |
12 | g.5045601A>C | CA383466524 | KCNA5 | c.1454A>C (p.Asp485Ala)
| |
12 | g.5045601A>G | CA383466525 | KCNA5 | c.1454A>G (p.Asp485Gly)
| |
12 | g.5045601A>T | CA383466526 | KCNA5 | c.1454A>T (p.Asp485Val)
| |
12 | g.5045602C>A | CA383466527 | KCNA5 | c.1455C>A (p.Asp485Glu)
| |
12 | g.5045602C>G | CA383466528 | KCNA5 | c.1455C>G (p.Asp485Glu)
| |
12 | g.5045602C>T | CA478095971 | KCNA5 | c.1455C>T (p.Asp485=)
| |
12 | g.5045603A= | CA2013431297 | KCNA5 | c.1456A= (p.Met486=)
| |
12 | g.5045603A>C | CA383466529 | KCNA5 | c.1456A>C (p.Met486Leu)
| |
12 | g.5045603A>G | CA383466530 | KCNA5 | c.1456A>G (p.Met486Val)
| dbSNP gnomAD v4 |
12 | g.5045603A>T | CA383466531 | KCNA5 | c.1456A>T (p.Met486Leu)
| |
12 | g.5045604T>A | CA383466532 | KCNA5 | c.1457T>A (p.Met486Lys)
| |
12 | g.5045604T>C | CA383466533 | KCNA5 | c.1457T>C (p.Met486Thr)
| |
12 | g.5045604T>G | CA383466534 | KCNA5 | c.1457T>G (p.Met486Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045604T= | CA2013431298 | KCNA5 | c.1457T= (p.Met486=)
| |
12 | g.5045605G>A | CA383466537 | KCNA5 | c.1458G>A (p.Met486Ile)
| |
12 | g.5045605G>C | CA383466536 | KCNA5 | c.1458G>C (p.Met486Ile)
| gnomAD v4 |
12 | g.5045605G>T | CA383466535 | KCNA5 | c.1458G>T (p.Met486Ile)
| |
12 | g.5045606A>C | CA478095976 | KCNA5 | c.1459A>C (p.Arg487=)
| |
12 | g.5045606A>G | CA383466538 | KCNA5 | c.1459A>G (p.Arg487Gly)
| |
12 | g.5045606A>T | CA383466539 | KCNA5 | c.1459A>T (p.Arg487Trp)
| |
12 | g.5045607G>A | CA383466540 | KCNA5 | c.1460G>A (p.Arg487Lys)
| |
12 | g.5045607G>C | CA383466541 | KCNA5 | c.1460G>C (p.Arg487Thr)
| |
12 | g.5045607G>T | CA383466542 | KCNA5 | c.1460G>T (p.Arg487Met)
| |
12 | g.5045608G>A | CA478095980 | KCNA5 | c.1461G>A (p.Arg487=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045608G>C | CA383466543 | KCNA5 | c.1461G>C (p.Arg487Ser)
| |
12 | g.5045608G= | CA2013431299 | KCNA5 | c.1461G= (p.Arg487=)
| |
12 | g.5045608G>T | CA383466544 | KCNA5 | c.1461G>T (p.Arg487Ser)
| |
12 | g.5045609C>A | CA383466545 | KCNA5 | c.1462C>A (p.Pro488Thr)
| |
12 | g.5045609C>G | CA383466546 | KCNA5 | c.1462C>G (p.Pro488Ala)
| |
12 | g.5045609C>T | CA383466547 | KCNA5 | c.1462C>T (p.Pro488Ser)
| gnomAD v4 |
12 | g.5045610C>A | CA383466548 | KCNA5 | c.1463C>A (p.Pro488His)
| |
12 | g.5045610C= | CA2013431300 | KCNA5 | c.1463C= (p.Pro488=)
| |
12 | g.5045610C>G | CA383466549 | KCNA5 | c.1463C>G (p.Pro488Arg)
| |
12 | g.5045610C>T | CA231868999 | KCNA5 | c.1463C>T (p.Pro488Leu)
| dbSNP COSMIC |
12 | g.5045611C>A | CA478095984 | KCNA5 | c.1464C>A (p.Pro488=)
| |
12 | g.5045611C>G | CA478095986 | KCNA5 | c.1464C>G (p.Pro488=)
| |
12 | g.5045611C>T | CA478095985 | KCNA5 | c.1464C>T (p.Pro488=)
| gnomAD v4 |
12 | g.5045612A>C | CA383466552 | KCNA5 | c.1465A>C (p.Ile489Leu)
| |
12 | g.5045612A>G | CA383466551 | KCNA5 | c.1465A>G (p.Ile489Val)
| |
12 | g.5045612A>T | CA383466550 | KCNA5 | c.1465A>T (p.Ile489Phe)
| |
12 | g.5045613T>A | CA383466553 | KCNA5 | c.1466T>A (p.Ile489Asn)
| |
12 | g.5045613T>C | CA383466554 | KCNA5 | c.1466T>C (p.Ile489Thr)
| |
12 | g.5045613T>G | CA383466555 | KCNA5 | c.1466T>G (p.Ile489Ser)
| |
12 | g.5045613_5045615delinsTCA | CA2013431301 | KCNA5 | c.1466_1468delinsTCA (p.Ile489=)
| |
12 | g.5045614C>A | CA478095990 | KCNA5 | c.1467C>A (p.Ile489=)
| |
12 | g.5045614C= | CA2013431303 | KCNA5 | c.1467C= (p.Ile489=)
| |
12 | g.5045614C>G | CA383466556 | KCNA5 | c.1467C>G (p.Ile489Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045614C>T | CA478095993 | KCNA5 | c.1467C>T (p.Ile489=)
| |
12 | g.5045615_5045616del | CA2013431302 | KCNA5 | c.1468_1469del (p.Thr490CysfsTer?)
| dbSNP gnomAD v4 |
12 | g.5045615A>C | CA383466557 | KCNA5 | c.1468A>C (p.Thr490Pro)
| |
12 | g.5045615A>G | CA383466558 | KCNA5 | c.1468A>G (p.Thr490Ala)
| |
12 | g.5045615A>T | CA383466559 | KCNA5 | c.1468A>T (p.Thr490Ser)
| |
12 | g.5045616C>A | CA383466560 | KCNA5 | c.1469C>A (p.Thr490Asn)
| |
12 | g.5045616C>G | CA383466561 | KCNA5 | c.1469C>G (p.Thr490Ser)
| |
12 | g.5045616C>T | CA383466562 | KCNA5 | c.1469C>T (p.Thr490Ile)
| gnomAD v4 |
12 | g.5045617T>A | CA478095999 | KCNA5 | c.1470T>A (p.Thr490=)
| COSMIC |
12 | g.5045617T>C | CA478096001 | KCNA5 | c.1470T>C (p.Thr490=)
| dbSNP gnomAD v4 |
12 | g.5045617T>G | CA478096002 | KCNA5 | c.1470T>G (p.Thr490=)
| |
12 | g.5045617T= | CA2013431304 | KCNA5 | c.1470T= (p.Thr490=)
| |
12 | g.5045618G>A | CA383466563 | KCNA5 | c.1471G>A (p.Val491Ile)
| ClinVar gnomAD v4 |
12 | g.5045618G>C | CA383466564 | KCNA5 | c.1471G>C (p.Val491Leu)
| |
12 | g.5045618G>T | CA383466565 | KCNA5 | c.1471G>T (p.Val491Phe)
| |
12 | g.5045619T>A | CA383466567 | KCNA5 | c.1472T>A (p.Val491Asp)
| |
12 | g.5045619T>C | CA6399872 | KCNA5 | c.1472T>C (p.Val491Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045619T>G | CA383466566 | KCNA5 | c.1472T>G (p.Val491Gly)
| |
12 | g.5045619T= | CA2013431305 | KCNA5 | c.1472T= (p.Val491=)
| |
12 | g.5045620T>A | CA478096009 | KCNA5 | c.1473T>A (p.Val491=)
| |
12 | g.5045620T>C | CA478096010 | KCNA5 | c.1473T>C (p.Val491=)
| |
12 | g.5045620T>G | CA478096011 | KCNA5 | c.1473T>G (p.Val491=)
| |
12 | g.5045620T= | CA2013431306 | KCNA5 | c.1473T= (p.Val491=)
| |
12 | g.5045621G>A | CA383466568 | KCNA5 | c.1474G>A (p.Gly492Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045621G>C | CA383466570 | KCNA5 | c.1474G>C (p.Gly492Arg)
| |
12 | g.5045621G= | CA2013431307 | KCNA5 | c.1474G= (p.Gly492=)
| |
12 | g.5045621G>T | CA383466569 | KCNA5 | c.1474G>T (p.Gly492Trp)
| |
12 | g.5045625dup | CA603482593 | KCNA5 | c.1478dup (p.Lys494GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045625del | CA2741226807 | KCNA5 | c.1478del (p.Gly493AlafsTer?)
| |
12 | g.5045622G>A | CA383466571 | KCNA5 | c.1475G>A (p.Gly492Glu)
| COSMIC |
12 | g.5045622G>C | CA383466572 | KCNA5 | c.1475G>C (p.Gly492Ala)
| |
12 | g.5045622G>T | CA383466573 | KCNA5 | c.1475G>T (p.Gly492Val)
| |
12 | g.5045623G>A | CA478096017 | KCNA5 | c.1476G>A (p.Gly492=)
| gnomAD v4 |
12 | g.5045623G>C | CA478096018 | KCNA5 | c.1476G>C (p.Gly492=)
| |
12 | g.5045623G>T | CA478096019 | KCNA5 | c.1476G>T (p.Gly492=)
| |
12 | g.5045624G>A | CA383466574 | KCNA5 | c.1477G>A (p.Gly493Ser)
| COSMIC |
12 | g.5045624G>C | CA383466575 | KCNA5 | c.1477G>C (p.Gly493Arg)
| |
12 | g.5045624G>T | CA383466576 | KCNA5 | c.1477G>T (p.Gly493Cys)
| |
12 | g.5045625G>A | CA383466577 | KCNA5 | c.1478G>A (p.Gly493Asp)
| gnomAD v4 |
12 | g.5045625G>C | CA383466578 | KCNA5 | c.1478G>C (p.Gly493Ala)
| |
12 | g.5045625G>T | CA383466579 | KCNA5 | c.1478G>T (p.Gly493Val)
| |
12 | g.5045626C>A | CA478096027 | KCNA5 | c.1479C>A (p.Gly493=)
| gnomAD v4 |
12 | g.5045626C>G | CA478096031 | KCNA5 | c.1479C>G (p.Gly493=)
| |
12 | g.5045626C>T | CA478096029 | KCNA5 | c.1479C>T (p.Gly493=)
| |
12 | g.5045627A= | CA2013431308 | KCNA5 | c.1480A= (p.Lys494=)
| |
12 | g.5045627A>C | CA383466580 | KCNA5 | c.1480A>C (p.Lys494Gln)
| |
12 | g.5045627A>G | CA383466581 | KCNA5 | c.1480A>G (p.Lys494Glu)
| |
12 | g.5045627A>T | CA383466582 | KCNA5 | c.1480A>T (p.Lys494Ter)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045628A>C | CA383466585 | KCNA5 | c.1481A>C (p.Lys494Thr)
| gnomAD v4 |
12 | g.5045628A>G | CA383466583 | KCNA5 | c.1481A>G (p.Lys494Arg)
| |
12 | g.5045628A>T | CA383466584 | KCNA5 | c.1481A>T (p.Lys494Met)
| |
12 | g.5045629G>A | CA478096038 | KCNA5 | c.1482G>A (p.Lys494=)
| |
12 | g.5045629G>C | CA383466586 | KCNA5 | c.1482G>C (p.Lys494Asn)
| |
12 | g.5045629G>T | CA383466587 | KCNA5 | c.1482G>T (p.Lys494Asn)
| |
12 | g.5045630A= | CA2013431309 | KCNA5 | c.1483A= (p.Ile495=)
| |
12 | g.5045630A>C | CA383466588 | KCNA5 | c.1483A>C (p.Ile495Leu)
| |
12 | g.5045630A>G | CA6399873 | KCNA5 | c.1483A>G (p.Ile495Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045630A>T | CA383466589 | KCNA5 | c.1483A>T (p.Ile495Phe)
| dbSNP |
12 | g.5045631T>A | CA383466590 | KCNA5 | c.1484T>A (p.Ile495Asn)
| |
12 | g.5045631T>C | CA383466591 | KCNA5 | c.1484T>C (p.Ile495Thr)
| gnomAD v4 |
12 | g.5045631T>G | CA383466592 | KCNA5 | c.1484T>G (p.Ile495Ser)
| |
12 | g.5045632C>A | CA6399874 | KCNA5 | c.1485C>A (p.Ile495=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045632C= | CA2013431310 | KCNA5 | c.1485C= (p.Ile495=)
| |
12 | g.5045632C>G | CA383466593 | KCNA5 | c.1485C>G (p.Ile495Met)
| COSMIC |
12 | g.5045632C>T | CA6399875 | KCNA5 | c.1485C>T (p.Ile495=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045633G>A | CA6399876 | KCNA5 | c.1486G>A (p.Val496Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045633G>C | CA383466595 | KCNA5 | c.1486G>C (p.Val496Leu)
| |
12 | g.5045633G= | CA2013431311 | KCNA5 | c.1486G= (p.Val496=)
| |
12 | g.5045633G>T | CA383466594 | KCNA5 | c.1486G>T (p.Val496Leu)
| |
12 | g.5045634T>A | CA383466596 | KCNA5 | c.1487T>A (p.Val496Glu)
| |
12 | g.5045634T>C | CA383466597 | KCNA5 | c.1487T>C (p.Val496Ala)
| gnomAD v4 |
12 | g.5045634T>G | CA383466598 | KCNA5 | c.1487T>G (p.Val496Gly)
| |
12 | g.5045635G>A | CA6399877 | KCNA5 | c.1488G>A (p.Val496=)
| dbSNP ExAC gnomAD v4 |
12 | g.5045635G>C | CA478096056 | KCNA5 | c.1488G>C (p.Val496=)
| |
12 | g.5045635G= | CA2013431312 | KCNA5 | c.1488G= (p.Val496=)
| |
12 | g.5045635G>T | CA478096055 | KCNA5 | c.1488G>T (p.Val496=)
| |
12 | g.5045636G>A | CA383466599 | KCNA5 | c.1489G>A (p.Gly497Ser)
| |
12 | g.5045636G>C | CA383466600 | KCNA5 | c.1489G>C (p.Gly497Arg)
| |
12 | g.5045636G>T | CA383466601 | KCNA5 | c.1489G>T (p.Gly497Cys)
| |
12 | g.5045637G>A | CA383466602 | KCNA5 | c.1490G>A (p.Gly497Asp)
| |
12 | g.5045637G>C | CA383466603 | KCNA5 | c.1490G>C (p.Gly497Ala)
| |
12 | g.5045637G>T | CA383466604 | KCNA5 | c.1490G>T (p.Gly497Val)
| |
12 | g.5045638C>A | CA478096061 | KCNA5 | c.1491C>A (p.Gly497=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045638C= | CA2013431313 | KCNA5 | c.1491C= (p.Gly497=)
| |
12 | g.5045638C>G | CA478096062 | KCNA5 | c.1491C>G (p.Gly497=)
| gnomAD v4 |
12 | g.5045638C>T | CA478096063 | KCNA5 | c.1491C>T (p.Gly497=)
| |
12 | g.5045639T>A | CA383466605 | KCNA5 | c.1492T>A (p.Ser498Thr)
| |
12 | g.5045639T>C | CA383466606 | KCNA5 | c.1492T>C (p.Ser498Pro)
| |
12 | g.5045639T>G | CA383466607 | KCNA5 | c.1492T>G (p.Ser498Ala)
| |
12 | g.5045640C>A | CA383466609 | KCNA5 | c.1493C>A (p.Ser498Ter)
| |
12 | g.5045640C= | CA2013431314 | KCNA5 | c.1493C= (p.Ser498=)
| |
12 | g.5045640C>G | CA383466608 | KCNA5 | c.1493C>G (p.Ser498Trp)
| |
12 | g.5045640C>T | CA6399878 | KCNA5 | c.1493C>T (p.Ser498Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045641G>A | CA6399879 | KCNA5 | c.1494G>A (p.Ser498=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045641G>C | CA6399880 | KCNA5 | c.1494G>C (p.Ser498=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045641G= | CA2013431315 | KCNA5 | c.1494G= (p.Ser498=)
| |
12 | g.5045641G>T | CA478096065 | KCNA5 | c.1494G>T (p.Ser498=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045642C>A | CA383466610 | KCNA5 | c.1495C>A (p.Leu499Met)
| dbSNP |
12 | g.5045642C= | CA2013431316 | KCNA5 | c.1495C= (p.Leu499=)
| |
12 | g.5045642C>G | CA383466611 | KCNA5 | c.1495C>G (p.Leu499Val)
| |
12 | g.5045642C>T | CA478096069 | KCNA5 | c.1495C>T (p.Leu499=)
| gnomAD v4 |
12 | g.5045643T>A | CA383466612 | KCNA5 | c.1496T>A (p.Leu499Gln)
| |
12 | g.5045643T>C | CA383466613 | KCNA5 | c.1496T>C (p.Leu499Pro)
| |
12 | g.5045643T>G | CA383466614 | KCNA5 | c.1496T>G (p.Leu499Arg)
| |
12 | g.5045644G>A | CA6399881 | KCNA5 | c.1497G>A (p.Leu499=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045644G>C | CA478096071 | KCNA5 | c.1497G>C (p.Leu499=)
| |
12 | g.5045644G= | CA2013431317 | KCNA5 | c.1497G= (p.Leu499=)
| |
12 | g.5045644G>T | CA478096072 | KCNA5 | c.1497G>T (p.Leu499=)
| |
12 | g.5045645T>A | CA383466615 | KCNA5 | c.1498T>A (p.Cys500Ser)
| |
12 | g.5045645T>C | CA383466616 | KCNA5 | c.1498T>C (p.Cys500Arg)
| |
12 | g.5045645T>G | CA383466617 | KCNA5 | c.1498T>G (p.Cys500Gly)
| |
12 | g.5045646G>A | CA383466620 | KCNA5 | c.1499G>A (p.Cys500Tyr)
| dbSNP |
12 | g.5045646G>C | CA383466619 | KCNA5 | c.1499G>C (p.Cys500Ser)
| |
12 | g.5045646G= | CA2013431318 | KCNA5 | c.1499G= (p.Cys500=)
| |
12 | g.5045646G>T | CA383466618 | KCNA5 | c.1499G>T (p.Cys500Phe)
| |
12 | g.5045647T>A | CA383466621 | KCNA5 | c.1500T>A (p.Cys500Ter)
| |
12 | g.5045647T>C | CA478096074 | KCNA5 | c.1500T>C (p.Cys500=)
| |
12 | g.5045647T>G | CA383466622 | KCNA5 | c.1500T>G (p.Cys500Trp)
| |
12 | g.5045648G>A | CA383466623 | KCNA5 | c.1501G>A (p.Ala501Thr)
| ClinVar dbSNP |
12 | g.5045648G>C | CA383466625 | KCNA5 | c.1501G>C (p.Ala501Pro)
| |
12 | g.5045648G>T | CA383466624 | KCNA5 | c.1501G>T (p.Ala501Ser)
| |
12 | g.5045649C>A | CA383466626 | KCNA5 | c.1502C>A (p.Ala501Asp)
| |
12 | g.5045649C= | CA2013431319 | KCNA5 | c.1502C= (p.Ala501=)
| |
12 | g.5045649C>G | CA383466627 | KCNA5 | c.1502C>G (p.Ala501Gly)
| |
12 | g.5045649C>T | CA383466628 | KCNA5 | c.1502C>T (p.Ala501Val)
| dbSNP |
12 | g.5045650C>A | CA478096076 | KCNA5 | c.1503C>A (p.Ala501=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045650C= | CA2013431320 | KCNA5 | c.1503C= (p.Ala501=)
| |
12 | g.5045650C>G | CA478096077 | KCNA5 | c.1503C>G (p.Ala501=)
| gnomAD v4 |
12 | g.5045650C>T | CA478096078 | KCNA5 | c.1503C>T (p.Ala501=)
| |
12 | g.5045651A= | CA2013431321 | KCNA5 | c.1504A= (p.Ile502=)
| |
12 | g.5045651A>C | CA383466629 | KCNA5 | c.1504A>C (p.Ile502Leu)
| |
12 | g.5045651A>G | CA383466630 | KCNA5 | c.1504A>G (p.Ile502Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045651A>T | CA383466631 | KCNA5 | c.1504A>T (p.Ile502Phe)
| |
12 | g.5045652T>A | CA383466632 | KCNA5 | c.1505T>A (p.Ile502Asn)
| dbSNP gnomAD v4 |
12 | g.5045652T>C | CA383466633 | KCNA5 | c.1505T>C (p.Ile502Thr)
| gnomAD v4 |
12 | g.5045652T>G | CA383466634 | KCNA5 | c.1505T>G (p.Ile502Ser)
| |
12 | g.5045653C>A | CA478096080 | KCNA5 | c.1506C>A (p.Ile502=)
| |
12 | g.5045653C= | CA2013431322 | KCNA5 | c.1506C= (p.Ile502=)
| |
12 | g.5045653C>G | CA383466635 | KCNA5 | c.1506C>G (p.Ile502Met)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045653C>T | CA6399882 | KCNA5 | c.1506C>T (p.Ile502=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045654G>A | CA6399883 | KCNA5 | c.1507G>A (p.Ala503Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045654G>C | CA383466636 | KCNA5 | c.1507G>C (p.Ala503Pro)
| |
12 | g.5045654G= | CA2013431323 | KCNA5 | c.1507G= (p.Ala503=)
| |
12 | g.5045654G>T | CA383466637 | KCNA5 | c.1507G>T (p.Ala503Ser)
| gnomAD v4 |
12 | g.5045655C>A | CA383466638 | KCNA5 | c.1508C>A (p.Ala503Asp)
| |
12 | g.5045655C>G | CA383466639 | KCNA5 | c.1508C>G (p.Ala503Gly)
| |
12 | g.5045655C>T | CA383466640 | KCNA5 | c.1508C>T (p.Ala503Val)
| |
12 | g.5045656C>A | CA478096082 | KCNA5 | c.1509C>A (p.Ala503=)
| COSMIC |
12 | g.5045656C= | CA2013431324 | KCNA5 | c.1509C= (p.Ala503=)
| |
12 | g.5045656C>G | CA478096084 | KCNA5 | c.1509C>G (p.Ala503=)
| |
12 | g.5045656C>T | CA6399884 | KCNA5 | c.1509C>T (p.Ala503=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045657G>A | CA383466641 | KCNA5 | c.1510G>A (p.Gly504Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045657G>C | CA383466642 | KCNA5 | c.1510G>C (p.Gly504Arg)
| COSMIC |
12 | g.5045657G= | CA2013431325 | KCNA5 | c.1510G= (p.Gly504=)
| |
12 | g.5045657G>T | CA383466643 | KCNA5 | c.1510G>T (p.Gly504Trp)
| |
12 | g.5045660del | CA603482594 | KCNA5 | c.1513del (p.Val505SerfsTer?)
| gnomAD v2 gnomAD v4 |
12 | g.5045658G>A | CA383466644 | KCNA5 | c.1511G>A (p.Gly504Glu)
| dbSNP gnomAD v4 |
12 | g.5045658G>C | CA383466645 | KCNA5 | c.1511G>C (p.Gly504Ala)
| |
12 | g.5045658G= | CA2013431326 | KCNA5 | c.1511G= (p.Gly504=)
| |
12 | g.5045658G>T | CA383466646 | KCNA5 | c.1511G>T (p.Gly504Val)
| |
12 | g.5045659G>A | CA6399885 | KCNA5 | c.1512G>A (p.Gly504=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045659G>C | CA478096087 | KCNA5 | c.1512G>C (p.Gly504=)
| |
12 | g.5045659G= | CA2013431327 | KCNA5 | c.1512G= (p.Gly504=)
| |
12 | g.5045659G>T | CA478096086 | KCNA5 | c.1512G>T (p.Gly504=)
| ClinVar gnomAD v4 |
12 | g.5045660G>A | CA383466648 | KCNA5 | c.1513G>A (p.Val505Ile)
| |
12 | g.5045660G>C | CA383466649 | KCNA5 | c.1513G>C (p.Val505Leu)
| |
12 | g.5045660G>T | CA383466647 | KCNA5 | c.1513G>T (p.Val505Phe)
| gnomAD v4 |
12 | g.5045661T>A | CA383466650 | KCNA5 | c.1514T>A (p.Val505Asp)
| gnomAD v4 |
12 | g.5045661T>C | CA383466651 | KCNA5 | c.1514T>C (p.Val505Ala)
| ClinVar dbSNP COSMIC |
12 | g.5045661T>G | CA383466652 | KCNA5 | c.1514T>G (p.Val505Gly)
| |
12 | g.5045662C>A | CA478096093 | KCNA5 | c.1515C>A (p.Val505=)
| gnomAD v4 |
12 | g.5045662C>G | CA478096092 | KCNA5 | c.1515C>G (p.Val505=)
| gnomAD v4 |
12 | g.5045662C>T | CA478096091 | KCNA5 | c.1515C>T (p.Val505=)
| |
12 | g.5045663C>A | CA383466653 | KCNA5 | c.1516C>A (p.Leu506Ile)
| |
12 | g.5045663C= | CA2013431328 | KCNA5 | c.1516C= (p.Leu506=)
| |
12 | g.5045663C>G | CA383466654 | KCNA5 | c.1516C>G (p.Leu506Val)
| |
12 | g.5045663C>T | CA231869057 | KCNA5 | c.1516C>T (p.Leu506Phe)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045664T>A | CA383466655 | KCNA5 | c.1517T>A (p.Leu506His)
| |
12 | g.5045664T>C | CA383466656 | KCNA5 | c.1517T>C (p.Leu506Pro)
| |
12 | g.5045664T>G | CA383466657 | KCNA5 | c.1517T>G (p.Leu506Arg)
| |
12 | g.5045665C>A | CA478096097 | KCNA5 | c.1518C>A (p.Leu506=)
| |
12 | g.5045665C>G | CA478096096 | KCNA5 | c.1518C>G (p.Leu506=)
| |
12 | g.5045665C>T | CA478096095 | KCNA5 | c.1518C>T (p.Leu506=)
| |
12 | g.5045666A= | CA2013431329 | KCNA5 | c.1519A= (p.Thr507=)
| |
12 | g.5045666A>C | CA383466658 | KCNA5 | c.1519A>C (p.Thr507Pro)
| dbSNP |
12 | g.5045666A>G | CA383466659 | KCNA5 | c.1519A>G (p.Thr507Ala)
| |
12 | g.5045666A>T | CA6399886 | KCNA5 | c.1519A>T (p.Thr507Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045667C>A | CA383466661 | KCNA5 | c.1520C>A (p.Thr507Asn)
| |
12 | g.5045667C>G | CA383466662 | KCNA5 | c.1520C>G (p.Thr507Ser)
| |
12 | g.5045667C>T | CA383466660 | KCNA5 | c.1520C>T (p.Thr507Ile)
| |
12 | g.5045668del | CA2573053695 | KCNA5 | c.1521del (p.Ile508LeufsTer?)
| ClinVar dbSNP |
12 | g.5045668C>A | CA478096099 | KCNA5 | c.1521C>A (p.Thr507=)
| gnomAD v4 COSMIC |
12 | g.5045668C= | CA2013431330 | KCNA5 | c.1521C= (p.Thr507=)
| |
12 | g.5045668C>G | CA6399887 | KCNA5 | c.1521C>G (p.Thr507=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045668C>T | CA478096098 | KCNA5 | c.1521C>T (p.Thr507=)
| |
12 | g.5045669A= | CA2013431331 | KCNA5 | c.1522A= (p.Ile508=)
| |
12 | g.5045669A>C | CA383466663 | KCNA5 | c.1522A>C (p.Ile508Leu)
| |
12 | g.5045669A>G | CA6399888 | KCNA5 | c.1522A>G (p.Ile508Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045669A>T | CA383466664 | KCNA5 | c.1522A>T (p.Ile508Phe)
| |
12 | g.5045670T>A | CA383466667 | KCNA5 | c.1523T>A (p.Ile508Asn)
| |
12 | g.5045670T>C | CA383466666 | KCNA5 | c.1523T>C (p.Ile508Thr)
| dbSNP gnomAD v4 |
12 | g.5045670T>G | CA383466665 | KCNA5 | c.1523T>G (p.Ile508Ser)
| |
12 | g.5045670T= | CA2013431332 | KCNA5 | c.1523T= (p.Ile508=)
| |
12 | g.5045671T>A | CA478096100 | KCNA5 | c.1524T>A (p.Ile508=)
| |
12 | g.5045671T>C | CA478096101 | KCNA5 | c.1524T>C (p.Ile508=)
| |
12 | g.5045671T>G | CA383466668 | KCNA5 | c.1524T>G (p.Ile508Met)
| |
12 | g.5045672G>A | CA383466669 | KCNA5 | c.1525G>A (p.Ala509Thr)
| gnomAD v4 |
12 | g.5045672G>C | CA383466670 | KCNA5 | c.1525G>C (p.Ala509Pro)
| |
12 | g.5045672G>T | CA383466671 | KCNA5 | c.1525G>T (p.Ala509Ser)
| |
12 | g.5045673C>A | CA383466672 | KCNA5 | c.1526C>A (p.Ala509Asp)
| |
12 | g.5045673C>G | CA383466673 | KCNA5 | c.1526C>G (p.Ala509Gly)
| |
12 | g.5045673C>T | CA383466674 | KCNA5 | c.1526C>T (p.Ala509Val)
| gnomAD v4 COSMIC |
12 | g.5045673_5045677delinsCCCTG | CA2013431333 | KCNA5 | c.1526_1530delinsCCCTG (p.Ala509=)
| |
12 | g.5045674C>A | CA478096102 | KCNA5 | c.1527C>A (p.Ala509=)
| |
12 | g.5045674C>G | CA478096103 | KCNA5 | c.1527C>G (p.Ala509=)
| |
12 | g.5045674C>T | CA478096104 | KCNA5 | c.1527C>T (p.Ala509=)
| gnomAD v4 |
12 | g.5045678_5045681del | CA689647350 | KCNA5 | c.1531_1534del (p.Pro511CysfsTer?)
| dbSNP |
12 | g.5045675C>A | CA383466676 | KCNA5 | c.1528C>A (p.Leu510Met)
| |
12 | g.5045675C= | CA2013431334 | KCNA5 | c.1528C= (p.Leu510=)
| |
12 | g.5045675C>G | CA383466675 | KCNA5 | c.1528C>G (p.Leu510Val)
| ClinVar dbSNP |
12 | g.5045675C>T | CA478096105 | KCNA5 | c.1528C>T (p.Leu510=)
| |
12 | g.5045676T>A | CA383466677 | KCNA5 | c.1529T>A (p.Leu510Gln)
| |
12 | g.5045676T>C | CA383466679 | KCNA5 | c.1529T>C (p.Leu510Pro)
| |
12 | g.5045676T>G | CA383466678 | KCNA5 | c.1529T>G (p.Leu510Arg)
| |
12 | g.5045677G>A | CA478096106 | KCNA5 | c.1530G>A (p.Leu510=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045677G>C | CA478096107 | KCNA5 | c.1530G>C (p.Leu510=)
| |
12 | g.5045677G= | CA2013431335 | KCNA5 | c.1530G= (p.Leu510=)
| |
12 | g.5045677G>T | CA478096108 | KCNA5 | c.1530G>T (p.Leu510=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045678C>A | CA383466680 | KCNA5 | c.1531C>A (p.Pro511Thr)
| |
12 | g.5045678C>G | CA383466681 | KCNA5 | c.1531C>G (p.Pro511Ala)
| |
12 | g.5045678C>T | CA383466682 | KCNA5 | c.1531C>T (p.Pro511Ser)
| |
12 | g.5045679C>A | CA383466683 | KCNA5 | c.1532C>A (p.Pro511His)
| |
12 | g.5045679C>G | CA383466684 | KCNA5 | c.1532C>G (p.Pro511Arg)
| |
12 | g.5045679C>T | CA383466685 | KCNA5 | c.1532C>T (p.Pro511Leu)
| |
12 | g.5045680T>A | CA478096112 | KCNA5 | c.1533T>A (p.Pro511=)
| |
12 | g.5045680T>C | CA478096113 | KCNA5 | c.1533T>C (p.Pro511=)
| dbSNP |
12 | g.5045680T>G | CA478096114 | KCNA5 | c.1533T>G (p.Pro511=)
| |
12 | g.5045680T= | CA2013431336 | KCNA5 | c.1533T= (p.Pro511=)
| |
12 | g.5045681G>A | CA383466686 | KCNA5 | c.1534G>A (p.Val512Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045681G>C | CA383466687 | KCNA5 | c.1534G>C (p.Val512Leu)
| |
12 | g.5045681G= | CA2013431337 | KCNA5 | c.1534G= (p.Val512=)
| |
12 | g.5045681G>T | CA383466688 | KCNA5 | c.1534G>T (p.Val512Leu)
| |
12 | g.5045682T>A | CA383466689 | KCNA5 | c.1535T>A (p.Val512Glu)
| |
12 | g.5045682T>C | CA383466690 | KCNA5 | c.1535T>C (p.Val512Ala)
| |
12 | g.5045682T>G | CA383466691 | KCNA5 | c.1535T>G (p.Val512Gly)
| |
12 | g.5045683G>A | CA6399889 | KCNA5 | c.1536G>A (p.Val512=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045683G>C | CA478096115 | KCNA5 | c.1536G>C (p.Val512=)
| COSMIC |
12 | g.5045683G= | CA2013431338 | KCNA5 | c.1536G= (p.Val512=)
| |
12 | g.5045683G>T | CA478096116 | KCNA5 | c.1536G>T (p.Val512=)
| |
12 | g.5045684C>A | CA383466694 | KCNA5 | c.1537C>A (p.Pro513Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045684C= | CA2013431339 | KCNA5 | c.1537C= (p.Pro513=)
| |
12 | g.5045684C>G | CA383466692 | KCNA5 | c.1537C>G (p.Pro513Ala)
| |
12 | g.5045684C>T | CA383466693 | KCNA5 | c.1537C>T (p.Pro513Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045685C>A | CA383466695 | KCNA5 | c.1538C>A (p.Pro513His)
| |
12 | g.5045685C>G | CA383466696 | KCNA5 | c.1538C>G (p.Pro513Arg)
| |
12 | g.5045685C>T | CA383466697 | KCNA5 | c.1538C>T (p.Pro513Leu)
| |
12 | g.5045686C>A | CA478096118 | KCNA5 | c.1539C>A (p.Pro513=)
| |
12 | g.5045686C= | CA2013431340 | KCNA5 | c.1539C= (p.Pro513=)
| |
12 | g.5045686C>G | CA6399891 | KCNA5 | c.1539C>G (p.Pro513=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045686C>T | CA6399890 | KCNA5 | c.1539C>T (p.Pro513=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045687G>A | CA383466698 | KCNA5 | c.1540G>A (p.Val514Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045687G>C | CA383466699 | KCNA5 | c.1540G>C (p.Val514Leu)
| COSMIC |
12 | g.5045687G= | CA2013431341 | KCNA5 | c.1540G= (p.Val514=)
| |
12 | g.5045687G>T | CA383466700 | KCNA5 | c.1540G>T (p.Val514Phe)
| COSMIC |
12 | g.5045688del | CA2617209926 | KCNA5 | c.1541del (p.Val514AlafsTer?)
| gnomAD v4 |
12 | g.5045688T>A | CA383466701 | KCNA5 | c.1541T>A (p.Val514Asp)
| |
12 | g.5045688T>C | CA383466702 | KCNA5 | c.1541T>C (p.Val514Ala)
| |
12 | g.5045688T>G | CA383466703 | KCNA5 | c.1541T>G (p.Val514Gly)
| |
12 | g.5045689C>A | CA478096121 | KCNA5 | c.1542C>A (p.Val514=)
| |
12 | g.5045689C>G | CA478096122 | KCNA5 | c.1542C>G (p.Val514=)
| |
12 | g.5045689C>T | CA478096124 | KCNA5 | c.1542C>T (p.Val514=)
| |