Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51789236C=CA2036172118SCN8Ac.4282-45C= (n.4282-45C=)
c.2346-45C=
c.4159-45C= (n.4159-45C=)
c.4315-45C= (n.4315-45C=)
12g.51789236C>GCA6571785SCN8Ac.4282-45C>G (n.4282-45C>G)
c.2346-45C>G
c.4159-45C>G (n.4159-45C>G)
c.4315-45C>G (n.4315-45C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789236C>TCA236329326SCN8Ac.4282-45C>T (n.4282-45C>T)
c.2346-45C>T
c.4159-45C>T (n.4159-45C>T)
c.4315-45C>T (n.4315-45C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789240C>ACA236329330SCN8Ac.4282-41C>A (n.4282-41C>A)
c.2346-41C>A
c.4159-41C>A (n.4159-41C>A)
c.4315-41C>A (n.4315-41C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789240C=CA2036172120SCN8Ac.4282-41C= (n.4282-41C=)
c.2346-41C=
c.4159-41C= (n.4159-41C=)
c.4315-41C= (n.4315-41C=)
12g.51789240C>GCA2618843285SCN8Ac.4282-41C>G (n.4282-41C>G)
c.2346-41C>G
c.4159-41C>G (n.4159-41C>G)
c.4315-41C>G (n.4315-41C>G)
 gnomAD v4
12g.51789240C>TCA6571786SCN8Ac.4282-41C>T (n.4282-41C>T)
c.2346-41C>T
c.4159-41C>T (n.4159-41C>T)
c.4315-41C>T (n.4315-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789241T>CCA6571787SCN8Ac.4282-40T>C (n.4282-40T>C)
c.2346-40T>C
c.4159-40T>C (n.4159-40T>C)
c.4315-40T>C (n.4315-40T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789241T>GCA6571788SCN8Ac.4282-40T>G (n.4282-40T>G)
c.2346-40T>G
c.4159-40T>G (n.4159-40T>G)
c.4315-40T>G (n.4315-40T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789241T=CA2036172124SCN8Ac.4282-40T= (n.4282-40T=)
c.2346-40T=
c.4159-40T= (n.4159-40T=)
c.4315-40T= (n.4315-40T=)
12g.51789242A=CA2036172127SCN8Ac.4282-39A= (n.4282-39A=)
c.2346-39A=
c.4159-39A= (n.4159-39A=)
c.4315-39A= (n.4315-39A=)
12g.51789242A>CCA2618843302SCN8Ac.4282-39A>C (n.4282-39A>C)
c.2346-39A>C
c.4159-39A>C (n.4159-39A>C)
c.4315-39A>C (n.4315-39A>C)
 gnomAD v4
12g.51789242A>GCA605052721SCN8Ac.4282-39A>G (n.4282-39A>G)
c.2346-39A>G
c.4159-39A>G (n.4159-39A>G)
c.4315-39A>G (n.4315-39A>G)
 dbSNP gnomAD v2
12g.51789243G>ACA605052723SCN8Ac.4282-38G>A (n.4282-38G>A)
c.2346-38G>A
c.4159-38G>A (n.4159-38G>A)
c.4315-38G>A (n.4315-38G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51789243G=CA2036172130SCN8Ac.4282-38G= (n.4282-38G=)
c.2346-38G=
c.4159-38G= (n.4159-38G=)
c.4315-38G= (n.4315-38G=)
12g.51789243G>TCA6571789SCN8Ac.4282-38G>T (n.4282-38G>T)
c.2346-38G>T
c.4159-38G>T (n.4159-38G>T)
c.4315-38G>T (n.4315-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789245A>GCA2575160445SCN8Ac.4282-36A>G (n.4282-36A>G)
c.2346-36A>G
c.4159-36A>G (n.4159-36A>G)
c.4315-36A>G (n.4315-36A>G)
12g.51789246G>ACA947685369SCN8Ac.4282-35G>A (n.4282-35G>A)
c.2346-35G>A
c.4159-35G>A (n.4159-35G>A)
c.4315-35G>A (n.4315-35G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51789246G=CA2036172132SCN8Ac.4282-35G= (n.4282-35G=)
c.2346-35G=
c.4159-35G= (n.4159-35G=)
c.4315-35G= (n.4315-35G=)
12g.51789249G>ACA2036172134SCN8Ac.4282-32G>A (n.4282-32G>A)
c.2346-32G>A
c.4159-32G>A (n.4159-32G>A)
c.4315-32G>A (n.4315-32G>A)
 dbSNP
12g.51789249G>CCA2618843307SCN8Ac.4282-32G>C (n.4282-32G>C)
c.2346-32G>C
c.4159-32G>C (n.4159-32G>C)
c.4315-32G>C (n.4315-32G>C)
 gnomAD v4
12g.51789249G=CA2036172133SCN8Ac.4282-32G= (n.4282-32G=)
c.2346-32G=
c.4159-32G= (n.4159-32G=)
c.4315-32G= (n.4315-32G=)
12g.51789250A=CA2036172135SCN8Ac.4282-31A= (n.4282-31A=)
c.2346-31A=
c.4159-31A= (n.4159-31A=)
c.4315-31A= (n.4315-31A=)
12g.51789250A>GCA2036172136SCN8Ac.4282-31A>G (n.4282-31A>G)
c.2346-31A>G
c.4159-31A>G (n.4159-31A>G)
c.4315-31A>G (n.4315-31A>G)
 dbSNP gnomAD v4
12g.51789252T>ACA2795979777SCN8Ac.4282-29T>A (n.4282-29T>A)
c.2346-29T>A
c.4159-29T>A (n.4159-29T>A)
c.4315-29T>A (n.4315-29T>A)
12g.51789253C>ACA605052729SCN8Ac.4282-28C>A (n.4282-28C>A)
c.2346-28C>A
c.4159-28C>A (n.4159-28C>A)
c.4315-28C>A (n.4315-28C>A)
 dbSNP gnomAD v2
12g.51789253C=CA2036172137SCN8Ac.4282-28C= (n.4282-28C=)
c.2346-28C=
c.4159-28C= (n.4159-28C=)
c.4315-28C= (n.4315-28C=)
12g.51789253C>TCA2575160446SCN8Ac.4282-28C>T (n.4282-28C>T)
c.2346-28C>T
c.4159-28C>T (n.4159-28C>T)
c.4315-28C>T (n.4315-28C>T)
12g.51789256T>CCA605052734SCN8Ac.4282-25T>C (n.4282-25T>C)
c.2346-25T>C
c.4159-25T>C (n.4159-25T>C)
c.4315-25T>C (n.4315-25T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51789256T=CA2036172140SCN8Ac.4282-25T= (n.4282-25T=)
c.2346-25T=
c.4159-25T= (n.4159-25T=)
c.4315-25T= (n.4315-25T=)
12g.51789258C=CA2036172146SCN8Ac.4282-23C= (n.4282-23C=)
c.2346-23C=
c.4159-23C= (n.4159-23C=)
c.4315-23C= (n.4315-23C=)
12g.51789258C>TCA2036172144SCN8Ac.4282-23C>T (n.4282-23C>T)
c.2346-23C>T
c.4159-23C>T (n.4159-23C>T)
c.4315-23C>T (n.4315-23C>T)
 dbSNP gnomAD v4
12g.51789259C=CA2036172148SCN8Ac.4282-22C= (n.4282-22C=)
c.2346-22C=
c.4159-22C= (n.4159-22C=)
c.4315-22C= (n.4315-22C=)
12g.51789259C>TCA6571790SCN8Ac.4282-22C>T (n.4282-22C>T)
c.2346-22C>T
c.4159-22C>T (n.4159-22C>T)
c.4315-22C>T (n.4315-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789260T>CCA2618843330SCN8Ac.4282-21T>C (n.4282-21T>C)
c.2346-21T>C
c.4159-21T>C (n.4159-21T>C)
c.4315-21T>C (n.4315-21T>C)
 gnomAD v4
12g.51789260T>GCA2618843329SCN8Ac.4282-21T>G (n.4282-21T>G)
c.2346-21T>G
c.4159-21T>G (n.4159-21T>G)
c.4315-21T>G (n.4315-21T>G)
 gnomAD v4
12g.51789262T>CCA6571791SCN8Ac.4282-19T>C (n.4282-19T>C)
c.2346-19T>C
c.4159-19T>C (n.4159-19T>C)
c.4315-19T>C (n.4315-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789262T=CA2036172152SCN8Ac.4282-19T= (n.4282-19T=)
c.2346-19T=
c.4159-19T= (n.4159-19T=)
c.4315-19T= (n.4315-19T=)
12g.51789266C>ACA2618843337SCN8Ac.4282-15C>A (n.4282-15C>A)
c.2346-15C>A
c.4159-15C>A (n.4159-15C>A)
c.4315-15C>A (n.4315-15C>A)
 gnomAD v4
12g.51789267C>ACA605052745SCN8Ac.4282-14C>A (n.4282-14C>A)
c.2346-14C>A
c.4159-14C>A (n.4159-14C>A)
c.4315-14C>A (n.4315-14C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789267C=CA2036172154SCN8Ac.4282-14C= (n.4282-14C=)
c.2346-14C=
c.4159-14C= (n.4159-14C=)
c.4315-14C= (n.4315-14C=)
12g.51789267C>TCA605052743SCN8Ac.4282-14C>T (n.4282-14C>T)
c.2346-14C>T
c.4159-14C>T (n.4159-14C>T)
c.4315-14C>T (n.4315-14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789268T>CCA2618843356SCN8Ac.4282-13T>C (n.4282-13T>C)
c.2346-13T>C
c.4159-13T>C (n.4159-13T>C)
c.4315-13T>C (n.4315-13T>C)
 gnomAD v4
12g.51789269G>ACA2795979778SCN8Ac.4282-12G>A (n.4282-12G>A)
c.2346-12G>A
c.4159-12G>A (n.4159-12G>A)
c.4315-12G>A (n.4315-12G>A)
12g.51789270T>CCA2575160447SCN8Ac.4282-11T>C (n.4282-11T>C)
c.2346-11T>C
c.4159-11T>C (n.4159-11T>C)
c.4315-11T>C (n.4315-11T>C)
 gnomAD v4
12g.51789271C=CA2036172162SCN8Ac.4282-10C= (n.4282-10C=)
c.2346-10C=
c.4159-10C= (n.4159-10C=)
c.4315-10C= (n.4315-10C=)
12g.51789271C>GCA6571792SCN8Ac.4282-10C>G (n.4282-10C>G)
c.2346-10C>G
c.4159-10C>G (n.4159-10C>G)
c.4315-10C>G (n.4315-10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789271C>TCA6571793SCN8Ac.4282-10C>T (n.4282-10C>T)
c.2346-10C>T
c.4159-10C>T (n.4159-10C>T)
c.4315-10C>T (n.4315-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789272C>ACA479794906SCN8Ac.4282-9C>A (n.4282-9C>A)
c.2346-9C>A
c.4159-9C>A (n.4159-9C>A)
c.4315-9C>A (n.4315-9C>A)
 COSMIC COSMIC
12g.51789272C=CA2036172167SCN8Ac.4282-9C= (n.4282-9C=)
c.2346-9C=
c.4159-9C= (n.4159-9C=)
c.4315-9C= (n.4315-9C=)
12g.51789272C>GCA6571794SCN8Ac.4282-9C>G (n.4282-9C>G)
c.2346-9C>G
c.4159-9C>G (n.4159-9C>G)
c.4315-9C>G (n.4315-9C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789276G>TCA2618843392SCN8Ac.4282-5G>T (n.4282-5G>T)
c.2346-5G>T
c.4159-5G>T (n.4159-5G>T)
c.4315-5G>T (n.4315-5G>T)
 gnomAD v4
12g.51789277A>GCA2575160448SCN8Ac.4282-4A>G (n.4282-4A>G)
c.2346-4A>G
c.4159-4A>G (n.4159-4A>G)
c.4315-4A>G (n.4315-4A>G)
12g.51789278C>TCA2739272035SCN8Ac.4282-3C>T (n.4282-3C>T)
c.2346-3C>T
c.4159-3C>T (n.4159-3C>T)
c.4315-3C>T (n.4315-3C>T)
 ClinVar
12g.51789279A>CCA384907866SCN8Ac.4282-2A>C (n.4282-2A>C)
c.2346-2A>C
c.4159-2A>C (n.4159-2A>C)
c.4315-2A>C (n.4315-2A>C)
12g.51789279A>GCA384907870SCN8Ac.4282-2A>G (n.4282-2A>G)
c.2346-2A>G
c.4159-2A>G (n.4159-2A>G)
c.4315-2A>G (n.4315-2A>G)
12g.51789279A>TCA384907873SCN8Ac.4282-2A>T (n.4282-2A>T)
c.2346-2A>T
c.4159-2A>T (n.4159-2A>T)
c.4315-2A>T (n.4315-2A>T)
12g.51789280G>ACA384907880SCN8Ac.4282-1G>A (n.4282-1G>A)
c.2346-1G>A
c.4159-1G>A (n.4159-1G>A)
c.4315-1G>A (n.4315-1G>A)
 COSMIC COSMIC
12g.51789280G>CCA384907883SCN8Ac.4282-1G>C (n.4282-1G>C)
c.2346-1G>C
c.4159-1G>C (n.4159-1G>C)
c.4315-1G>C (n.4315-1G>C)
12g.51789280G>TCA384907885SCN8Ac.4282-1G>T (n.4282-1G>T)
c.2346-1G>T
c.4159-1G>T (n.4159-1G>T)
c.4315-1G>T (n.4315-1G>T)
12g.51789281C>ACA384907892SCN8Ac.4282C>A (p.Pro1428Thr)
c.2346C>A
c.4159C>A (p.Pro1387Thr)
c.4315C>A (p.Pro1439Thr)
 gnomAD v4
12g.51789281C=CA2036172170SCN8Ac.4282C= (p.Pro1428=)
c.2346C=
c.4159C= (p.Pro1387=)
c.4315C= (p.Pro1439=)
12g.51789281C>GCA384907890SCN8Ac.4282C>G (p.Pro1428Ala)
c.2346C>G
c.4159C>G (p.Pro1387Ala)
c.4315C>G (p.Pro1439Ala)
12g.51789281C>TCA384907888SCN8Ac.4282C>T (p.Pro1428Ser)
c.2346C>T
c.4159C>T (p.Pro1387Ser)
c.4315C>T (p.Pro1439Ser)
 dbSNP
12g.51789282C>ACA384907904SCN8Ac.4283C>A (p.Pro1428His)
c.2347C>A
c.4160C>A (p.Pro1387His)
c.4316C>A (p.Pro1439His)
12g.51789282C>GCA384907895SCN8Ac.4283C>G (p.Pro1428Arg)
c.2347C>G
c.4160C>G (p.Pro1387Arg)
c.4316C>G (p.Pro1439Arg)
12g.51789282C>TCA384907902SCN8Ac.4283C>T (p.Pro1428Leu)
c.2347C>T
c.4160C>T (p.Pro1387Leu)
c.4316C>T (p.Pro1439Leu)
12g.51789283T>ACA479794907SCN8Ac.4284T>A (p.Pro1428=)
c.2348T>A
c.4161T>A (p.Pro1387=)
c.4317T>A (p.Pro1439=)
12g.51789283T>CCA479794908SCN8Ac.4284T>C (p.Pro1428=)
c.2348T>C
c.4161T>C (p.Pro1387=)
c.4317T>C (p.Pro1439=)
12g.51789283T>GCA479794909SCN8Ac.4284T>G (p.Pro1428=)
c.2348T>G
c.4161T>G (p.Pro1387=)
c.4317T>G (p.Pro1439=)
12g.51789284G>ACA384907909SCN8Ac.4285G>A (p.Asp1429Asn)
c.2349G>A
c.4162G>A (p.Asp1388Asn)
c.4318G>A (p.Asp1440Asn)
12g.51789284G>CCA384907919SCN8Ac.4285G>C (p.Asp1429His)
c.2349G>C
c.4162G>C (p.Asp1388His)
c.4318G>C (p.Asp1440His)
12g.51789284G>TCA384907921SCN8Ac.4285G>T (p.Asp1429Tyr)
c.2349G>T
c.4162G>T (p.Asp1388Tyr)
c.4318G>T (p.Asp1440Tyr)
12g.51789285A=CA2036172172SCN8Ac.4286A= (p.Asp1429=)
c.2350A=
c.4163A= (p.Asp1388=)
c.4319A= (p.Asp1440=)
12g.51789285A>CCA384907925SCN8Ac.4286A>C (p.Asp1429Ala)
c.2350A>C
c.4163A>C (p.Asp1388Ala)
c.4319A>C (p.Asp1440Ala)
12g.51789285A>GCA384907928SCN8Ac.4286A>G (p.Asp1429Gly)
c.2350A>G
c.4163A>G (p.Asp1388Gly)
c.4319A>G (p.Asp1440Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.51789285A>TCA384907931SCN8Ac.4286A>T (p.Asp1429Val)
c.2350A>T
c.4163A>T (p.Asp1388Val)
c.4319A>T (p.Asp1440Val)
12g.51789286T>ACA384907934SCN8Ac.4287T>A (p.Asp1429Glu)
c.2351T>A
c.4164T>A (p.Asp1388Glu)
c.4320T>A (p.Asp1440Glu)
12g.51789286T>CCA479794910SCN8Ac.4287T>C (p.Asp1429=)
c.2351T>C
c.4164T>C (p.Asp1388=)
c.4320T>C (p.Asp1440=)
12g.51789286T>GCA384907935SCN8Ac.4287T>G (p.Asp1429Glu)
c.2351T>G
c.4164T>G (p.Asp1388Glu)
c.4320T>G (p.Asp1440Glu)
12g.51789287G>ACA384907939SCN8Ac.4288G>A (p.Glu1430Lys)
c.2352G>A
c.4165G>A (p.Glu1389Lys)
c.4321G>A (p.Glu1441Lys)
12g.51789287G>CCA384907941SCN8Ac.4288G>C (p.Glu1430Gln)
c.2352G>C
c.4165G>C (p.Glu1389Gln)
c.4321G>C (p.Glu1441Gln)
12g.51789287G=CA2036172178SCN8Ac.4288G= (p.Glu1430=)
c.2352G=
c.4165G= (p.Glu1389=)
c.4321G= (p.Glu1441=)
12g.51789287G>TCA384907944SCN8Ac.4288G>T (p.Glu1430Ter)
c.2352G>T
c.4165G>T (p.Glu1389Ter)
c.4321G>T (p.Glu1441Ter)
 dbSNP gnomAD v4
12g.51789288A>CCA384907951SCN8Ac.4289A>C (p.Glu1430Ala)
c.2353A>C
c.4166A>C (p.Glu1389Ala)
c.4322A>C (p.Glu1441Ala)
12g.51789288A>GCA384907946SCN8Ac.4289A>G (p.Glu1430Gly)
c.2353A>G
c.4166A>G (p.Glu1389Gly)
c.4322A>G (p.Glu1441Gly)
12g.51789288A>TCA384907949SCN8Ac.4289A>T (p.Glu1430Val)
c.2353A>T
c.4166A>T (p.Glu1389Val)
c.4322A>T (p.Glu1441Val)
12g.51789289G>ACA6571795SCN8Ac.4290G>A (p.Glu1430=)
c.2354G>A
c.4167G>A (p.Glu1389=)
c.4323G>A (p.Glu1441=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789289G>CCA384907958SCN8Ac.4290G>C (p.Glu1430Asp)
c.2354G>C
c.4167G>C (p.Glu1389Asp)
c.4323G>C (p.Glu1441Asp)
12g.51789289G=CA2036172181SCN8Ac.4290G= (p.Glu1430=)
c.2354G=
c.4167G= (p.Glu1389=)
c.4323G= (p.Glu1441=)
12g.51789289G>TCA384907960SCN8Ac.4290G>T (p.Glu1430Asp)
c.2354G>T
c.4167G>T (p.Glu1389Asp)
c.4323G>T (p.Glu1441Asp)
12g.51789290C>ACA384907963SCN8Ac.4291C>A (p.Gln1431Lys)
c.2355C>A
c.4168C>A (p.Gln1390Lys)
c.4324C>A (p.Gln1442Lys)
12g.51789290C>GCA384907966SCN8Ac.4291C>G (p.Gln1431Glu)
c.2355C>G
c.4168C>G (p.Gln1390Glu)
c.4324C>G (p.Gln1442Glu)
12g.51789290C>TCA384907967SCN8Ac.4291C>T (p.Gln1431Ter)
c.2355C>T
c.4168C>T (p.Gln1390Ter)
c.4324C>T (p.Gln1442Ter)
12g.51789291A>CCA384907968SCN8Ac.4292A>C (p.Gln1431Pro)
c.2356A>C
c.4169A>C (p.Gln1390Pro)
c.4325A>C (p.Gln1442Pro)
12g.51789291A>GCA384907969SCN8Ac.4292A>G (p.Gln1431Arg)
c.2356A>G
c.4169A>G (p.Gln1390Arg)
c.4325A>G (p.Gln1442Arg)
12g.51789291A>TCA384907970SCN8Ac.4292A>T (p.Gln1431Leu)
c.2356A>T
c.4169A>T (p.Gln1390Leu)
c.4325A>T (p.Gln1442Leu)
12g.51789292G>ACA6571796SCN8Ac.4293G>A (p.Gln1431=)
c.2357G>A
c.4170G>A (p.Gln1390=)
c.4326G>A (p.Gln1442=)
 dbSNP ExAC gnomAD v4
12g.51789292G>CCA384907975SCN8Ac.4293G>C (p.Gln1431His)
c.2357G>C
c.4170G>C (p.Gln1390His)
c.4326G>C (p.Gln1442His)
12g.51789292G=CA2036172186SCN8Ac.4293G= (p.Gln1431=)
c.2357G=
c.4170G= (p.Gln1390=)
c.4326G= (p.Gln1442=)
12g.51789292G>TCA384907977SCN8Ac.4293G>T (p.Gln1431His)
c.2357G>T
c.4170G>T (p.Gln1390His)
c.4326G>T (p.Gln1442His)
12g.51789293C>ACA384907984SCN8Ac.4294C>A (p.Pro1432Thr)
c.2358C>A
c.4171C>A (p.Pro1391Thr)
c.4327C>A (p.Pro1443Thr)
12g.51789293C>GCA384907986SCN8Ac.4294C>G (p.Pro1432Ala)
c.2358C>G
c.4171C>G (p.Pro1391Ala)
c.4327C>G (p.Pro1443Ala)
12g.51789293C>TCA384907980SCN8Ac.4294C>T (p.Pro1432Ser)
c.2358C>T
c.4171C>T (p.Pro1391Ser)
c.4327C>T (p.Pro1443Ser)
12g.51789294C>ACA384907990SCN8Ac.4295C>A (p.Pro1432His)
c.2359C>A
c.4172C>A (p.Pro1391His)
c.4328C>A (p.Pro1443His)
12g.51789294C>GCA384907995SCN8Ac.4295C>G (p.Pro1432Arg)
c.2359C>G
c.4172C>G (p.Pro1391Arg)
c.4328C>G (p.Pro1443Arg)
12g.51789294C>TCA384907993SCN8Ac.4295C>T (p.Pro1432Leu)
c.2359C>T
c.4172C>T (p.Pro1391Leu)
c.4328C>T (p.Pro1443Leu)
12g.51789295T>ACA479794911SCN8Ac.4296T>A (p.Pro1432=)
c.2360T>A
c.4173T>A (p.Pro1391=)
c.4329T>A (p.Pro1443=)
12g.51789295T>CCA479794913SCN8Ac.4296T>C (p.Pro1432=)
c.2360T>C
c.4173T>C (p.Pro1391=)
c.4329T>C (p.Pro1443=)
 gnomAD v4
12g.51789295T>GCA479794912SCN8Ac.4296T>G (p.Pro1432=)
c.2360T>G
c.4173T>G (p.Pro1391=)
c.4329T>G (p.Pro1443=)
12g.51789296A=CA2036172191SCN8Ac.4297A= (p.Lys1433=)
c.2361A=
c.4174A= (p.Lys1392=)
c.4330A= (p.Lys1444=)
12g.51789296A>CCA384908000SCN8Ac.4297A>C (p.Lys1433Gln)
c.2361A>C
c.4174A>C (p.Lys1392Gln)
c.4330A>C (p.Lys1444Gln)
12g.51789296A>GCA384908003SCN8Ac.4297A>G (p.Lys1433Glu)
c.2361A>G
c.4174A>G (p.Lys1392Glu)
c.4330A>G (p.Lys1444Glu)
 COSMIC COSMIC
12g.51789296A>TCA384908006SCN8Ac.4297A>T (p.Lys1433Ter)
c.2361A>T
c.4174A>T (p.Lys1392Ter)
c.4330A>T (p.Lys1444Ter)
 dbSNP
12g.51789297A>CCA384908008SCN8Ac.4298A>C (p.Lys1433Thr)
c.2362A>C
c.4175A>C (p.Lys1392Thr)
c.4331A>C (p.Lys1444Thr)
12g.51789297A>GCA384908012SCN8Ac.4298A>G (p.Lys1433Arg)
c.2362A>G
c.4175A>G (p.Lys1392Arg)
c.4331A>G (p.Lys1444Arg)
12g.51789297A>TCA384908014SCN8Ac.4298A>T (p.Lys1433Met)
c.2362A>T
c.4175A>T (p.Lys1392Met)
c.4331A>T (p.Lys1444Met)
12g.51789298G>ACA479794916SCN8Ac.4299G>A (p.Lys1433=)
c.2363G>A
c.4176G>A (p.Lys1392=)
c.4332G>A (p.Lys1444=)
 gnomAD v4
12g.51789298G>CCA384908016SCN8Ac.4299G>C (p.Lys1433Asn)
c.2363G>C
c.4176G>C (p.Lys1392Asn)
c.4332G>C (p.Lys1444Asn)
12g.51789298G>TCA384908019SCN8Ac.4299G>T (p.Lys1433Asn)
c.2363G>T
c.4176G>T (p.Lys1392Asn)
c.4332G>T (p.Lys1444Asn)
12g.51789299T>ACA384908024SCN8Ac.4300T>A (p.Tyr1434Asn)
c.2364T>A
c.4177T>A (p.Tyr1393Asn)
c.4333T>A (p.Tyr1445Asn)
12g.51789299T>CCA384908027SCN8Ac.4300T>C (p.Tyr1434His)
c.2364T>C
c.4177T>C (p.Tyr1393His)
c.4333T>C (p.Tyr1445His)
12g.51789299T>GCA384908029SCN8Ac.4300T>G (p.Tyr1434Asp)
c.2364T>G
c.4177T>G (p.Tyr1393Asp)
c.4333T>G (p.Tyr1445Asp)
12g.51789300A>CCA384908036SCN8Ac.4301A>C (p.Tyr1434Ser)
c.2365A>C
c.4178A>C (p.Tyr1393Ser)
c.4334A>C (p.Tyr1445Ser)
12g.51789300A>GCA384908031SCN8Ac.4301A>G (p.Tyr1434Cys)
c.2365A>G
c.4178A>G (p.Tyr1393Cys)
c.4334A>G (p.Tyr1445Cys)
12g.51789300A>TCA384908032SCN8Ac.4301A>T (p.Tyr1434Phe)
c.2365A>T
c.4178A>T (p.Tyr1393Phe)
c.4334A>T (p.Tyr1445Phe)
12g.51789301T>ACA384908039SCN8Ac.4302T>A (p.Tyr1434Ter)
c.2366T>A
c.4179T>A (p.Tyr1393Ter)
c.4335T>A (p.Tyr1445Ter)
12g.51789301T>CCA479794919SCN8Ac.4302T>C (p.Tyr1434=)
c.2366T>C
c.4179T>C (p.Tyr1393=)
c.4335T>C (p.Tyr1445=)
12g.51789301T>GCA384908042SCN8Ac.4302T>G (p.Tyr1434Ter)
c.2366T>G
c.4179T>G (p.Tyr1393Ter)
c.4335T>G (p.Tyr1445Ter)
12g.51789302G>ACA384908047SCN8Ac.4303G>A (p.Glu1435Lys)
c.2367G>A
c.4180G>A (p.Glu1394Lys)
c.4336G>A (p.Glu1446Lys)
12g.51789302G>CCA384908050SCN8Ac.4303G>C (p.Glu1435Gln)
c.2367G>C
c.4180G>C (p.Glu1394Gln)
c.4336G>C (p.Glu1446Gln)
12g.51789302G=CA2036172192SCN8Ac.4303G= (p.Glu1435=)
c.2367G=
c.4180G= (p.Glu1394=)
c.4336G= (p.Glu1446=)
12g.51789302G>TCA384908052SCN8Ac.4303G>T (p.Glu1435Ter)
c.2367G>T
c.4180G>T (p.Glu1394Ter)
c.4336G>T (p.Glu1446Ter)
 dbSNP
12g.51789303_51789304delCA2739272036SCN8Ac.4304_4305del (p.Glu1435GlyfsTer30)
c.2368_2369del
c.4181_4182del (p.Glu1394GlyfsTer30)
c.4337_4338del (p.Glu1446GlyfsTer30)
 ClinVar
12g.51789303A=CA2036172195SCN8Ac.4304A= (p.Glu1435=)
c.2368A=
c.4181A= (p.Glu1394=)
c.4337A= (p.Glu1446=)
12g.51789303A>CCA384908055SCN8Ac.4304A>C (p.Glu1435Ala)
c.2368A>C
c.4181A>C (p.Glu1394Ala)
c.4337A>C (p.Glu1446Ala)
 ClinVar dbSNP
12g.51789303A>GCA384908057SCN8Ac.4304A>G (p.Glu1435Gly)
c.2368A>G
c.4181A>G (p.Glu1394Gly)
c.4337A>G (p.Glu1446Gly)
12g.51789303A>TCA384908060SCN8Ac.4304A>T (p.Glu1435Val)
c.2368A>T
c.4181A>T (p.Glu1394Val)
c.4337A>T (p.Glu1446Val)
12g.51789304G>ACA479794923SCN8Ac.4305G>A (p.Glu1435=)
c.2369G>A
c.4182G>A (p.Glu1394=)
c.4338G>A (p.Glu1446=)
 ClinVar dbSNP
12g.51789304G>CCA384908064SCN8Ac.4305G>C (p.Glu1435Asp)
c.2369G>C
c.4182G>C (p.Glu1394Asp)
c.4338G>C (p.Glu1446Asp)
12g.51789304G=CA2036172201SCN8Ac.4305G= (p.Glu1435=)
c.2369G=
c.4182G= (p.Glu1394=)
c.4338G= (p.Glu1446=)
12g.51789304G>TCA384908065SCN8Ac.4305G>T (p.Glu1435Asp)
c.2369G>T
c.4182G>T (p.Glu1394Asp)
c.4338G>T (p.Glu1446Asp)
12g.51789305G>ACA384908069SCN8Ac.4306G>A (p.Asp1436Asn)
c.2370G>A
c.4183G>A (p.Asp1395Asn)
c.4339G>A (p.Asp1447Asn)
12g.51789305G>CCA384908072SCN8Ac.4306G>C (p.Asp1436His)
c.2370G>C
c.4183G>C (p.Asp1395His)
c.4339G>C (p.Asp1447His)
12g.51789305G>TCA384908068SCN8Ac.4306G>T (p.Asp1436Tyr)
c.2370G>T
c.4183G>T (p.Asp1395Tyr)
c.4339G>T (p.Asp1447Tyr)
12g.51789306A>CCA384908077SCN8Ac.4307A>C (p.Asp1436Ala)
c.2371A>C
c.4184A>C (p.Asp1395Ala)
c.4340A>C (p.Asp1447Ala)
12g.51789306A>GCA384908079SCN8Ac.4307A>G (p.Asp1436Gly)
c.2371A>G
c.4184A>G (p.Asp1395Gly)
c.4340A>G (p.Asp1447Gly)
12g.51789306A>TCA384908083SCN8Ac.4307A>T (p.Asp1436Val)
c.2371A>T
c.4184A>T (p.Asp1395Val)
c.4340A>T (p.Asp1447Val)
12g.51789307C>ACA384908091SCN8Ac.4308C>A (p.Asp1436Glu)
c.2372C>A
c.4185C>A (p.Asp1395Glu)
c.4341C>A (p.Asp1447Glu)
12g.51789307C=CA2036172203SCN8Ac.4308C= (p.Asp1436=)
c.2372C=
c.4185C= (p.Asp1395=)
c.4341C= (p.Asp1447=)
12g.51789307C>GCA384908093SCN8Ac.4308C>G (p.Asp1436Glu)
c.2372C>G
c.4185C>G (p.Asp1395Glu)
c.4341C>G (p.Asp1447Glu)
12g.51789307C>TCA479794927SCN8Ac.4308C>T (p.Asp1436=)
c.2372C>T
c.4185C>T (p.Asp1395=)
c.4341C>T (p.Asp1447=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789308A>CCA384908103SCN8Ac.4309A>C (p.Asn1437His)
c.2373A>C
c.4186A>C (p.Asn1396His)
c.4342A>C (p.Asn1448His)
12g.51789308A>GCA384908097SCN8Ac.4309A>G (p.Asn1437Asp)
c.2373A>G
c.4186A>G (p.Asn1396Asp)
c.4342A>G (p.Asn1448Asp)
12g.51789308A>TCA384908099SCN8Ac.4309A>T (p.Asn1437Tyr)
c.2373A>T
c.4186A>T (p.Asn1396Tyr)
c.4342A>T (p.Asn1448Tyr)
12g.51789309A>CCA384908106SCN8Ac.4310A>C (p.Asn1437Thr)
c.2374A>C
c.4187A>C (p.Asn1396Thr)
c.4343A>C (p.Asn1448Thr)
12g.51789309A>GCA384908109SCN8Ac.4310A>G (p.Asn1437Ser)
c.2374A>G
c.4187A>G (p.Asn1396Ser)
c.4343A>G (p.Asn1448Ser)
12g.51789309A>TCA384908111SCN8Ac.4310A>T (p.Asn1437Ile)
c.2374A>T
c.4187A>T (p.Asn1396Ile)
c.4343A>T (p.Asn1448Ile)
12g.51789310T>ACA384908114SCN8Ac.4311T>A (p.Asn1437Lys)
c.2375T>A
c.4188T>A (p.Asn1396Lys)
c.4344T>A (p.Asn1448Lys)
12g.51789310T>CCA16614148SCN8Ac.4311T>C (p.Asn1437=)
c.2375T>C
c.4188T>C (p.Asn1396=)
c.4344T>C (p.Asn1448=)
 ClinVar dbSNP gnomAD v4
12g.51789310T>GCA384908117SCN8Ac.4311T>G (p.Asn1437Lys)
c.2375T>G
c.4188T>G (p.Asn1396Lys)
c.4344T>G (p.Asn1448Lys)
12g.51789310T=CA2036172207SCN8Ac.4311T= (p.Asn1437=)
c.2375T=
c.4188T= (p.Asn1396=)
c.4344T= (p.Asn1448=)
12g.51789311A=CA2036172212SCN8Ac.4312A= (p.Ile1438=)
c.2376A=
c.4189A= (p.Ile1397=)
c.4345A= (p.Ile1449=)
12g.51789311A>CCA384908120SCN8Ac.4312A>C (p.Ile1438Leu)
c.2376A>C
c.4189A>C (p.Ile1397Leu)
c.4345A>C (p.Ile1449Leu)
12g.51789311A>GCA384908125SCN8Ac.4312A>G (p.Ile1438Val)
c.2376A>G
c.4189A>G (p.Ile1397Val)
c.4345A>G (p.Ile1449Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789311A>TCA384908123SCN8Ac.4312A>T (p.Ile1438Phe)
c.2376A>T
c.4189A>T (p.Ile1397Phe)
c.4345A>T (p.Ile1449Phe)
12g.51789312T>ACA384908129SCN8Ac.4313T>A (p.Ile1438Asn)
c.2377T>A
c.4190T>A (p.Ile1397Asn)
c.4346T>A (p.Ile1449Asn)
12g.51789312T>CCA384908132SCN8Ac.4313T>C (p.Ile1438Thr)
c.2377T>C
c.4190T>C (p.Ile1397Thr)
c.4346T>C (p.Ile1449Thr)
12g.51789312T>GCA384908134SCN8Ac.4313T>G (p.Ile1438Ser)
c.2377T>G
c.4190T>G (p.Ile1397Ser)
c.4346T>G (p.Ile1449Ser)
12g.51789313C>ACA479794932SCN8Ac.4314C>A (p.Ile1438=)
c.2378C>A
c.4191C>A (p.Ile1397=)
c.4347C>A (p.Ile1449=)
12g.51789313C=CA2036172216SCN8Ac.4314C= (p.Ile1438=)
c.2378C=
c.4191C= (p.Ile1397=)
c.4347C= (p.Ile1449=)
12g.51789313C>GCA384908137SCN8Ac.4314C>G (p.Ile1438Met)
c.2378C>G
c.4191C>G (p.Ile1397Met)
c.4347C>G (p.Ile1449Met)
12g.51789313C>TCA479794933SCN8Ac.4314C>T (p.Ile1438=)
c.2378C>T
c.4191C>T (p.Ile1397=)
c.4347C>T (p.Ile1449=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789314T>ACA384908138SCN8Ac.4315T>A (p.Tyr1439Asn)
c.2379T>A
c.4192T>A (p.Tyr1398Asn)
c.4348T>A (p.Tyr1450Asn)
12g.51789314T>CCA384908139SCN8Ac.4315T>C (p.Tyr1439His)
c.2379T>C
c.4192T>C (p.Tyr1398His)
c.4348T>C (p.Tyr1450His)
12g.51789314T>GCA384908140SCN8Ac.4315T>G (p.Tyr1439Asp)
c.2379T>G
c.4192T>G (p.Tyr1398Asp)
c.4348T>G (p.Tyr1450Asp)
12g.51789315A>CCA384908142SCN8Ac.4316A>C (p.Tyr1439Ser)
c.2380A>C
c.4193A>C (p.Tyr1398Ser)
c.4349A>C (p.Tyr1450Ser)
12g.51789315A>GCA384908143SCN8Ac.4316A>G (p.Tyr1439Cys)
c.2380A>G
c.4193A>G (p.Tyr1398Cys)
c.4349A>G (p.Tyr1450Cys)
12g.51789315A>TCA384908145SCN8Ac.4316A>T (p.Tyr1439Phe)
c.2380A>T
c.4193A>T (p.Tyr1398Phe)
c.4349A>T (p.Tyr1450Phe)
12g.51789316C>ACA384908147SCN8Ac.4317C>A (p.Tyr1439Ter)
c.2381C>A
c.4194C>A (p.Tyr1398Ter)
c.4350C>A (p.Tyr1450Ter)
12g.51789316C>GCA384908148SCN8Ac.4317C>G (p.Tyr1439Ter)
c.2381C>G
c.4194C>G (p.Tyr1398Ter)
c.4350C>G (p.Tyr1450Ter)
12g.51789316C>TCA479794935SCN8Ac.4317C>T (p.Tyr1439=)
c.2381C>T
c.4194C>T (p.Tyr1398=)
c.4350C>T (p.Tyr1450=)
 gnomAD v4
12g.51789317A>CCA384908154SCN8Ac.4318A>C (p.Met1440Leu)
c.2382A>C
c.4195A>C (p.Met1399Leu)
c.4351A>C (p.Met1451Leu)
12g.51789317A>GCA384908162SCN8Ac.4318A>G (p.Met1440Val)
c.2382A>G
c.4195A>G (p.Met1399Val)
c.4351A>G (p.Met1451Val)
12g.51789317A>TCA384908151SCN8Ac.4318A>T (p.Met1440Leu)
c.2382A>T
c.4195A>T (p.Met1399Leu)
c.4351A>T (p.Met1451Leu)
12g.51789318T>ACA384908168SCN8Ac.4319T>A (p.Met1440Lys)
c.2383T>A
c.4196T>A (p.Met1399Lys)
c.4352T>A (p.Met1451Lys)
12g.51789318T>CCA384908165SCN8Ac.4319T>C (p.Met1440Thr)
c.2383T>C
c.4196T>C (p.Met1399Thr)
c.4352T>C (p.Met1451Thr)
12g.51789318T>GCA384908167SCN8Ac.4319T>G (p.Met1440Arg)
c.2383T>G
c.4196T>G (p.Met1399Arg)
c.4352T>G (p.Met1451Arg)
12g.51789319G>ACA384908171SCN8Ac.4320G>A (p.Met1440Ile)
c.2384G>A
c.4197G>A (p.Met1399Ile)
c.4353G>A (p.Met1451Ile)
12g.51789319G>CCA384908173SCN8Ac.4320G>C (p.Met1440Ile)
c.2384G>C
c.4197G>C (p.Met1399Ile)
c.4353G>C (p.Met1451Ile)
12g.51789319G>TCA384908175SCN8Ac.4320G>T (p.Met1440Ile)
c.2384G>T
c.4197G>T (p.Met1399Ile)
c.4353G>T (p.Met1451Ile)
 ClinVar
12g.51789320T>ACA384908178SCN8Ac.4321T>A (p.Tyr1441Asn)
c.2385T>A
c.4198T>A (p.Tyr1400Asn)
c.4354T>A (p.Tyr1452Asn)
12g.51789320T>CCA384908180SCN8Ac.4321T>C (p.Tyr1441His)
c.2385T>C
c.4198T>C (p.Tyr1400His)
c.4354T>C (p.Tyr1452His)
12g.51789320T>GCA384908182SCN8Ac.4321T>G (p.Tyr1441Asp)
c.2385T>G
c.4198T>G (p.Tyr1400Asp)
c.4354T>G (p.Tyr1452Asp)
12g.51789321A>CCA384908183SCN8Ac.4322A>C (p.Tyr1441Ser)
c.2386A>C
c.4199A>C (p.Tyr1400Ser)
c.4355A>C (p.Tyr1452Ser)
 COSMIC COSMIC
12g.51789321A>GCA384908185SCN8Ac.4322A>G (p.Tyr1441Cys)
c.2386A>G
c.4199A>G (p.Tyr1400Cys)
c.4355A>G (p.Tyr1452Cys)
12g.51789321A>TCA384908186SCN8Ac.4322A>T (p.Tyr1441Phe)
c.2386A>T
c.4199A>T (p.Tyr1400Phe)
c.4355A>T (p.Tyr1452Phe)
 COSMIC COSMIC
12g.51789322C>ACA384908190SCN8Ac.4323C>A (p.Tyr1441Ter)
c.2387C>A
c.4200C>A (p.Tyr1400Ter)
c.4356C>A (p.Tyr1452Ter)
12g.51789322C>GCA384908192SCN8Ac.4323C>G (p.Tyr1441Ter)
c.2387C>G
c.4200C>G (p.Tyr1400Ter)
c.4356C>G (p.Tyr1452Ter)
12g.51789322C>TCA479794938SCN8Ac.4323C>T (p.Tyr1441=)
c.2387C>T
c.4200C>T (p.Tyr1400=)
c.4356C>T (p.Tyr1452=)
12g.51789323A>CCA384908199SCN8Ac.4324A>C (p.Ile1442Leu)
c.2388A>C
c.4201A>C (p.Ile1401Leu)
c.4357A>C (p.Ile1453Leu)
12g.51789323A>GCA384908196SCN8Ac.4324A>G (p.Ile1442Val)
c.2388A>G
c.4201A>G (p.Ile1401Val)
c.4357A>G (p.Ile1453Val)
 gnomAD v4
12g.51789323A>TCA384908198SCN8Ac.4324A>T (p.Ile1442Phe)
c.2388A>T
c.4201A>T (p.Ile1401Phe)
c.4357A>T (p.Ile1453Phe)
12g.51789324T>ACA384908202SCN8Ac.4325T>A (p.Ile1442Asn)
c.2389T>A
c.4202T>A (p.Ile1401Asn)
c.4358T>A (p.Ile1453Asn)
12g.51789324T>CCA384908203SCN8Ac.4325T>C (p.Ile1442Thr)
c.2389T>C
c.4202T>C (p.Ile1401Thr)
c.4358T>C (p.Ile1453Thr)
 ClinVar dbSNP
12g.51789324T>GCA384908209SCN8Ac.4325T>G (p.Ile1442Ser)
c.2389T>G
c.4202T>G (p.Ile1401Ser)
c.4358T>G (p.Ile1453Ser)
12g.51789324T=CA2036172219SCN8Ac.4325T= (p.Ile1442=)
c.2389T=
c.4202T= (p.Ile1401=)
c.4358T= (p.Ile1453=)
12g.51789325C>ACA479794942SCN8Ac.4326C>A (p.Ile1442=)
c.2390C>A
c.4203C>A (p.Ile1401=)
c.4359C>A (p.Ile1453=)
12g.51789325C=CA2036172220SCN8Ac.4326C= (p.Ile1442=)
c.2390C=
c.4203C= (p.Ile1401=)
c.4359C= (p.Ile1453=)
12g.51789325C>GCA384908213SCN8Ac.4326C>G (p.Ile1442Met)
c.2390C>G
c.4203C>G (p.Ile1401Met)
c.4359C>G (p.Ile1453Met)
 dbSNP
12g.51789325C>TCA479794941SCN8Ac.4326C>T (p.Ile1442=)
c.2390C>T
c.4203C>T (p.Ile1401=)
c.4359C>T (p.Ile1453=)
12g.51789326T>ACA384908215SCN8Ac.4327T>A (p.Tyr1443Asn)
c.2391T>A
c.4204T>A (p.Tyr1402Asn)
c.4360T>A (p.Tyr1454Asn)
12g.51789326T>CCA384908217SCN8Ac.4327T>C (p.Tyr1443His)
c.2391T>C
c.4204T>C (p.Tyr1402His)
c.4360T>C (p.Tyr1454His)
12g.51789326T>GCA384908221SCN8Ac.4327T>G (p.Tyr1443Asp)
c.2391T>G
c.4204T>G (p.Tyr1402Asp)
c.4360T>G (p.Tyr1454Asp)
12g.51789327A>CCA384908225SCN8Ac.4328A>C (p.Tyr1443Ser)
c.2392A>C
c.4205A>C (p.Tyr1402Ser)
c.4361A>C (p.Tyr1454Ser)
12g.51789327A>GCA384908229SCN8Ac.4328A>G (p.Tyr1443Cys)
c.2392A>G
c.4205A>G (p.Tyr1402Cys)
c.4361A>G (p.Tyr1454Cys)
 ClinVar dbSNP
12g.51789327A>TCA384908232SCN8Ac.4328A>T (p.Tyr1443Phe)
c.2392A>T
c.4205A>T (p.Tyr1402Phe)
c.4361A>T (p.Tyr1454Phe)
12g.51789328T>ACA384908234SCN8Ac.4329T>A (p.Tyr1443Ter)
c.2393T>A
c.4206T>A (p.Tyr1402Ter)
c.4362T>A (p.Tyr1454Ter)
12g.51789328T>CCA479794944SCN8Ac.4329T>C (p.Tyr1443=)
c.2393T>C
c.4206T>C (p.Tyr1402=)
c.4362T>C (p.Tyr1454=)
 dbSNP
12g.51789328T>GCA384908237SCN8Ac.4329T>G (p.Tyr1443Ter)
c.2393T>G
c.4206T>G (p.Tyr1402Ter)
c.4362T>G (p.Tyr1454Ter)
12g.51789329T>ACA384908245SCN8Ac.4330T>A (p.Phe1444Ile)
c.2394T>A
c.4207T>A (p.Phe1403Ile)
c.4363T>A (p.Phe1455Ile)
12g.51789329T>CCA384908243SCN8Ac.4330T>C (p.Phe1444Leu)
c.2394T>C
c.4207T>C (p.Phe1403Leu)
c.4363T>C (p.Phe1455Leu)
12g.51789329T>GCA384908241SCN8Ac.4330T>G (p.Phe1444Val)
c.2394T>G
c.4207T>G (p.Phe1403Val)
c.4363T>G (p.Phe1455Val)
12g.51789330T>ACA384908253SCN8Ac.4331T>A (p.Phe1444Tyr)
c.2395T>A
c.4208T>A (p.Phe1403Tyr)
c.4364T>A (p.Phe1455Tyr)
12g.51789330T>CCA384908248SCN8Ac.4331T>C (p.Phe1444Ser)
c.2395T>C
c.4208T>C (p.Phe1403Ser)
c.4364T>C (p.Phe1455Ser)
12g.51789330T>GCA384908249SCN8Ac.4331T>G (p.Phe1444Cys)
c.2395T>G
c.4208T>G (p.Phe1403Cys)
c.4364T>G (p.Phe1455Cys)
12g.51789331T>ACA384908257SCN8Ac.4332T>A (p.Phe1444Leu)
c.2396T>A
c.4209T>A (p.Phe1403Leu)
c.4365T>A (p.Phe1455Leu)
12g.51789331T>CCA6571797SCN8Ac.4332T>C (p.Phe1444=)
c.2396T>C
c.4209T>C (p.Phe1403=)
c.4365T>C (p.Phe1455=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789331T>GCA384908263SCN8Ac.4332T>G (p.Phe1444Leu)
c.2396T>G
c.4209T>G (p.Phe1403Leu)
c.4365T>G (p.Phe1455Leu)
12g.51789331T=CA2036172223SCN8Ac.4332T= (p.Phe1444=)
c.2396T=
c.4209T= (p.Phe1403=)
c.4365T= (p.Phe1455=)
12g.51789332G>ACA384908272SCN8Ac.4333G>A (p.Val1445Ile)
c.2397G>A
c.4210G>A (p.Val1404Ile)
c.4366G>A (p.Val1456Ile)
 COSMIC COSMIC
12g.51789332G>CCA384908269SCN8Ac.4333G>C (p.Val1445Leu)
c.2397G>C
c.4210G>C (p.Val1404Leu)
c.4366G>C (p.Val1456Leu)
12g.51789332G>TCA384908266SCN8Ac.4333G>T (p.Val1445Phe)
c.2397G>T
c.4210G>T (p.Val1404Phe)
c.4366G>T (p.Val1456Phe)
12g.51789333T>ACA384908276SCN8Ac.4334T>A (p.Val1445Asp)
c.2398T>A
c.4211T>A (p.Val1404Asp)
c.4367T>A (p.Val1456Asp)
12g.51789333T>CCA384908279SCN8Ac.4334T>C (p.Val1445Ala)
c.2398T>C
c.4211T>C (p.Val1404Ala)
c.4367T>C (p.Val1456Ala)
12g.51789333T>GCA384908281SCN8Ac.4334T>G (p.Val1445Gly)
c.2398T>G
c.4211T>G (p.Val1404Gly)
c.4367T>G (p.Val1456Gly)
12g.51789334C>ACA479794947SCN8Ac.4335C>A (p.Val1445=)
c.2399C>A
c.4212C>A (p.Val1404=)
c.4368C>A (p.Val1456=)
12g.51789334C>GCA479794949SCN8Ac.4335C>G (p.Val1445=)
c.2399C>G
c.4212C>G (p.Val1404=)
c.4368C>G (p.Val1456=)
12g.51789334C>TCA479794950SCN8Ac.4335C>T (p.Val1445=)
c.2399C>T
c.4212C>T (p.Val1404=)
c.4368C>T (p.Val1456=)
12g.51789335A>CCA384908286SCN8Ac.4336A>C (p.Ile1446Leu)
c.2400A>C
c.4213A>C (p.Ile1405Leu)
c.4369A>C (p.Ile1457Leu)
12g.51789335A>GCA384908287SCN8Ac.4336A>G (p.Ile1446Val)
c.2400A>G
c.4213A>G (p.Ile1405Val)
c.4369A>G (p.Ile1457Val)
12g.51789335A>TCA384908288SCN8Ac.4336A>T (p.Ile1446Phe)
c.2400A>T
c.4213A>T (p.Ile1405Phe)
c.4369A>T (p.Ile1457Phe)
12g.51789336T>ACA384908291SCN8Ac.4337T>A (p.Ile1446Asn)
c.2401T>A
c.4214T>A (p.Ile1405Asn)
c.4370T>A (p.Ile1457Asn)
12g.51789336T>CCA384908294SCN8Ac.4337T>C (p.Ile1446Thr)
c.2401T>C
c.4214T>C (p.Ile1405Thr)
c.4370T>C (p.Ile1457Thr)
12g.51789336T>GCA384908293SCN8Ac.4337T>G (p.Ile1446Ser)
c.2401T>G
c.4214T>G (p.Ile1405Ser)
c.4370T>G (p.Ile1457Ser)

Number of alleles fetched