Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5044144C>A | CA6399529 | KCNA5 | c.-4C>A (n.-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044144C= | CA2013430495 | KCNA5 | c.-4C= (n.-4C=) | |
12 | g.5044144C>T | CA2617209873 | KCNA5 | c.-4C>T (n.-4C>T) | gnomAD v4 |
12 | g.5044145G>A | CA2617209875 | KCNA5 | c.-3G>A (n.-3G>A) | gnomAD v4 |
12 | g.5044145G= | CA2013430496 | KCNA5 | c.-3G= (n.-3G=) | |
12 | g.5044145G>T | CA2013430497 | KCNA5 | c.-3G>T (n.-3G>T) | dbSNP gnomAD v4 |
12 | g.5044151_5044189del | CA2617209874 | KCNA5 | c.4_42del (p.Glu2_Met14del) | gnomAD v4 |
12 | g.5044146C>A | CA2575052155 | KCNA5 | c.-2C>A (n.-2C>A) | gnomAD v4 |
12 | g.5044146C>T | CA2617209876 | KCNA5 | c.-2C>T (n.-2C>T) | gnomAD v4 |
12 | g.5044147C>A | CA2617209877 | KCNA5 | c.-1C>A (n.-1C>A) | gnomAD v4 |
12 | g.5044148A= | CA2013430498 | KCNA5 | c.1A= (p.Met1=) | |
12 | g.5044148A>C | CA383461692 | KCNA5 | c.1A>C (p.Met1Leu) | |
12 | g.5044148A>G | CA231866707 | KCNA5 | c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044148A>T | CA383461693 | KCNA5 | c.1A>T (p.Met1Leu) | |
12 | g.5044149T>A | CA383461696 | KCNA5 | c.2T>A (p.Met1Lys) | gnomAD v4 |
12 | g.5044149T>C | CA383461695 | KCNA5 | c.2T>C (p.Met1Thr) | ClinVar gnomAD v4 |
12 | g.5044149T>G | CA383461694 | KCNA5 | c.2T>G (p.Met1Arg) | gnomAD v4 |
12 | g.5044150G>A | CA383461697 | KCNA5 | c.3G>A (p.Met1Ile) | gnomAD v4 |
12 | g.5044150G>C | CA383461699 | KCNA5 | c.3G>C (p.Met1Ile) | |
12 | g.5044150G>T | CA383461698 | KCNA5 | c.3G>T (p.Met1Ile) | gnomAD v4 |
12 | g.5044151G>A | CA383461700 | KCNA5 | c.4G>A (p.Glu2Lys) | |
12 | g.5044151G>C | CA383461701 | KCNA5 | c.4G>C (p.Glu2Gln) | gnomAD v4 |
12 | g.5044151G>T | CA383461702 | KCNA5 | c.4G>T (p.Glu2Ter) | gnomAD v4 |
12 | g.5044152A>C | CA383461703 | KCNA5 | c.5A>C (p.Glu2Ala) | |
12 | g.5044152A>G | CA383461704 | KCNA5 | c.5A>G (p.Glu2Gly) | |
12 | g.5044152A>T | CA383461705 | KCNA5 | c.5A>T (p.Glu2Val) | |
12 | g.5044153G>A | CA478094427 | KCNA5 | c.6G>A (p.Glu2=) | |
12 | g.5044153G>C | CA383461706 | KCNA5 | c.6G>C (p.Glu2Asp) | |
12 | g.5044153G>T | CA383461707 | KCNA5 | c.6G>T (p.Glu2Asp) | gnomAD v4 |
12 | g.5044154A= | CA2013430499 | KCNA5 | c.7A= (p.Ile3=) | |
12 | g.5044154A>C | CA383461708 | KCNA5 | c.7A>C (p.Ile3Leu) | |
12 | g.5044154A>G | CA231866720 | KCNA5 | c.7A>G (p.Ile3Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044154A>T | CA383461709 | KCNA5 | c.7A>T (p.Ile3Phe) | gnomAD v4 |
12 | g.5044155T>A | CA383461712 | KCNA5 | c.8T>A (p.Ile3Asn) | gnomAD v4 |
12 | g.5044155T>C | CA383461711 | KCNA5 | c.8T>C (p.Ile3Thr) | |
12 | g.5044155T>G | CA383461710 | KCNA5 | c.8T>G (p.Ile3Ser) | |
12 | g.5044156C>A | CA478094433 | KCNA5 | c.9C>A (p.Ile3=) | gnomAD v4 |
12 | g.5044156C= | CA2013430500 | KCNA5 | c.9C= (p.Ile3=) | |
12 | g.5044156C>G | CA383461713 | KCNA5 | c.9C>G (p.Ile3Met) | |
12 | g.5044156C>T | CA478094431 | KCNA5 | c.9C>T (p.Ile3=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044157G>A | CA383461714 | KCNA5 | c.10G>A (p.Ala4Thr) | gnomAD v4 |
12 | g.5044157G>C | CA383461715 | KCNA5 | c.10G>C (p.Ala4Pro) | |
12 | g.5044157G= | CA2013430501 | KCNA5 | c.10G= (p.Ala4=) | |
12 | g.5044157G>T | CA383461716 | KCNA5 | c.10G>T (p.Ala4Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044158C>A | CA383461717 | KCNA5 | c.11C>A (p.Ala4Asp) | gnomAD v4 |
12 | g.5044158C= | CA2013430502 | KCNA5 | c.11C= (p.Ala4=) | |
12 | g.5044158C>G | CA383461718 | KCNA5 | c.11C>G (p.Ala4Gly) | |
12 | g.5044158C>T | CA383461719 | KCNA5 | c.11C>T (p.Ala4Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044159C>A | CA478094434 | KCNA5 | c.12C>A (p.Ala4=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044159C= | CA2013430503 | KCNA5 | c.12C= (p.Ala4=) |