Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51782158_51786734delCA2580086413SCN8Ac.3942+1387_4135del
c.1736+1887_1929del
c.2006+1387_2199del
c.3820-4384_4012del
n.193+1887_386del
c.3975+1387_4168del
c.*40+1887_*233del
 ClinVar
12g.51786565C>ACA480061495SCN8Ac.3966C>A (p.Gly1322=)
c.1760C>A
c.2030C>A
c.3843C>A (p.Gly1281=)
n.217C>A
c.3999C>A (p.Gly1333=)
c.*64C>A (n.*64C>A)
 gnomAD v4
12g.51786565C=CA2036202776SCN8Ac.3966C= (p.Gly1322=)
c.1760C=
c.2030C=
c.3843C= (p.Gly1281=)
n.217C=
c.3999C= (p.Gly1333=)
c.*64C= (n.*64C=)
12g.51786565C>GCA480061496SCN8Ac.3966C>G (p.Gly1322=)
c.1760C>G
c.2030C>G
c.3843C>G (p.Gly1281=)
n.217C>G
c.3999C>G (p.Gly1333=)
c.*64C>G (n.*64C>G)
12g.51786565C>TCA318237SCN8Ac.3966C>T (p.Gly1322=)
c.1760C>T
c.2030C>T
c.3843C>T (p.Gly1281=)
n.217C>T
c.3999C>T (p.Gly1333=)
c.*64C>T (n.*64C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51786566G>ACA242212SCN8Ac.3967G>A (p.Ala1323Thr)
c.1761G>A
c.2031G>A
c.3844G>A (p.Ala1282Thr)
n.218G>A
c.4000G>A (p.Ala1334Thr)
c.*65G>A (n.*65G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51786566G>CCA384904452SCN8Ac.3967G>C (p.Ala1323Pro)
c.1761G>C
c.2031G>C
c.3844G>C (p.Ala1282Pro)
n.218G>C
c.4000G>C (p.Ala1334Pro)
c.*65G>C (n.*65G>C)
12g.51786566G=CA2036202777SCN8Ac.3967G= (p.Ala1323=)
c.1761G=
c.2031G=
c.3844G= (p.Ala1282=)
n.218G=
c.4000G= (p.Ala1334=)
c.*65G= (n.*65G=)
12g.51786566G>TCA384904455SCN8Ac.3967G>T (p.Ala1323Ser)
c.1761G>T
c.2031G>T
c.3844G>T (p.Ala1282Ser)
n.218G>T
c.4000G>T (p.Ala1334Ser)
c.*65G>T (n.*65G>T)
 ClinVar dbSNP
12g.51786567C>ACA384904461SCN8Ac.3968C>A (p.Ala1323Asp)
c.1762C>A
c.2032C>A
c.3845C>A (p.Ala1282Asp)
n.219C>A
c.4001C>A (p.Ala1334Asp)
c.*66C>A (n.*66C>A)
12g.51786567C>GCA384904463SCN8Ac.3968C>G (p.Ala1323Gly)
c.1762C>G
c.2032C>G
c.3845C>G (p.Ala1282Gly)
n.219C>G
c.4001C>G (p.Ala1334Gly)
c.*66C>G (n.*66C>G)
12g.51786567C>TCA384904469SCN8Ac.3968C>T (p.Ala1323Val)
c.1762C>T
c.2032C>T
c.3845C>T (p.Ala1282Val)
n.219C>T
c.4001C>T (p.Ala1334Val)
c.*66C>T (n.*66C>T)
12g.51786568C>ACA480061501SCN8Ac.3969C>A (p.Ala1323=)
c.1763C>A
c.2033C>A
c.3846C>A (p.Ala1282=)
n.220C>A
c.4002C>A (p.Ala1334=)
c.*67C>A (n.*67C>A)
12g.51786568C=CA2036202778SCN8Ac.3969C= (p.Ala1323=)
c.1763C=
c.2033C=
c.3846C= (p.Ala1282=)
n.220C=
c.4002C= (p.Ala1334=)
c.*67C= (n.*67C=)
12g.51786568C>GCA480061502SCN8Ac.3969C>G (p.Ala1323=)
c.1763C>G
c.2033C>G
c.3846C>G (p.Ala1282=)
n.220C>G
c.4002C>G (p.Ala1334=)
c.*67C>G (n.*67C>G)
12g.51786568C>TCA480061503SCN8Ac.3969C>T (p.Ala1323=)
c.1763C>T
c.2033C>T
c.3846C>T (p.Ala1282=)
n.220C>T
c.4002C>T (p.Ala1334=)
c.*67C>T (n.*67C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51786569A=CA2036202779SCN8Ac.3970A= (p.Ile1324=)
c.1764A=
c.2034A=
c.3847A= (p.Ile1283=)
n.221A=
c.4003A= (p.Ile1335=)
c.*68A= (n.*68A=)
12g.51786569A>CCA384904473SCN8Ac.3970A>C (p.Ile1324Leu)
c.1764A>C
c.2034A>C
c.3847A>C (p.Ile1283Leu)
n.221A>C
c.4003A>C (p.Ile1335Leu)
c.*68A>C (n.*68A>C)
12g.51786569A>GCA384904476SCN8Ac.3970A>G (p.Ile1324Val)
c.1764A>G
c.2034A>G
c.3847A>G (p.Ile1283Val)
n.221A>G
c.4003A>G (p.Ile1335Val)
c.*68A>G (n.*68A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.51786569A>TCA384904478SCN8Ac.3970A>T (p.Ile1324Phe)
c.1764A>T
c.2034A>T
c.3847A>T (p.Ile1283Phe)
n.221A>T
c.4003A>T (p.Ile1335Phe)
c.*68A>T (n.*68A>T)
12g.51786570T>ACA384904480SCN8Ac.3971T>A (p.Ile1324Asn)
c.1765T>A
c.2035T>A
c.3848T>A (p.Ile1283Asn)
n.222T>A
c.4004T>A (p.Ile1335Asn)
c.*69T>A (n.*69T>A)
12g.51786570T>CCA384904482SCN8Ac.3971T>C (p.Ile1324Thr)
c.1765T>C
c.2035T>C
c.3848T>C (p.Ile1283Thr)
n.222T>C
c.4004T>C (p.Ile1335Thr)
c.*69T>C (n.*69T>C)
12g.51786570T>GCA384904483SCN8Ac.3971T>G (p.Ile1324Ser)
c.1765T>G
c.2035T>G
c.3848T>G (p.Ile1283Ser)
n.222T>G
c.4004T>G (p.Ile1335Ser)
c.*69T>G (n.*69T>G)
12g.51786571C>ACA480061506SCN8Ac.3972C>A (p.Ile1324=)
c.1766C>A
c.2036C>A
c.3849C>A (p.Ile1283=)
n.223C>A
c.4005C>A (p.Ile1335=)
c.*70C>A (n.*70C>A)
12g.51786571C>GCA384904484SCN8Ac.3972C>G (p.Ile1324Met)
c.1766C>G
c.2036C>G
c.3849C>G (p.Ile1283Met)
n.223C>G
c.4005C>G (p.Ile1335Met)
c.*70C>G (n.*70C>G)
12g.51786571C>TCA480061507SCN8Ac.3972C>T (p.Ile1324=)
c.1766C>T
c.2036C>T
c.3849C>T (p.Ile1283=)
n.223C>T
c.4005C>T (p.Ile1335=)
c.*70C>T (n.*70C>T)
12g.51786572C>ACA384904492SCN8Ac.3973C>A (p.Pro1325Thr)
c.1767C>A
c.2037C>A
c.3850C>A (p.Pro1284Thr)
n.224C>A
c.4006C>A (p.Pro1336Thr)
c.*71C>A (n.*71C>A)
12g.51786572C>GCA384904489SCN8Ac.3973C>G (p.Pro1325Ala)
c.1767C>G
c.2037C>G
c.3850C>G (p.Pro1284Ala)
n.224C>G
c.4006C>G (p.Pro1336Ala)
c.*71C>G (n.*71C>G)
12g.51786572C>TCA384904486SCN8Ac.3973C>T (p.Pro1325Ser)
c.1767C>T
c.2037C>T
c.3850C>T (p.Pro1284Ser)
n.224C>T
c.4006C>T (p.Pro1336Ser)
c.*71C>T (n.*71C>T)
 COSMIC COSMIC
12g.51786573C>ACA384904497SCN8Ac.3974C>A (p.Pro1325His)
c.1768C>A
c.2038C>A
c.3851C>A (p.Pro1284His)
n.225C>A
c.4007C>A (p.Pro1336His)
c.*72C>A (n.*72C>A)
12g.51786573C>GCA384904501SCN8Ac.3974C>G (p.Pro1325Arg)
c.1768C>G
c.2038C>G
c.3851C>G (p.Pro1284Arg)
n.225C>G
c.4007C>G (p.Pro1336Arg)
c.*72C>G (n.*72C>G)
12g.51786573C>TCA384904503SCN8Ac.3974C>T (p.Pro1325Leu)
c.1768C>T
c.2038C>T
c.3851C>T (p.Pro1284Leu)
n.225C>T
c.4007C>T (p.Pro1336Leu)
c.*72C>T (n.*72C>T)
12g.51786574C>ACA480061512SCN8Ac.3975C>A (p.Pro1325=)
c.1769C>A
c.2039C>A
c.3852C>A (p.Pro1284=)
n.226C>A
c.4008C>A (p.Pro1336=)
c.*73C>A (n.*73C>A)
12g.51786574C=CA2036202780SCN8Ac.3975C= (p.Pro1325=)
c.1769C=
c.2039C=
c.3852C= (p.Pro1284=)
n.226C=
c.4008C= (p.Pro1336=)
c.*73C= (n.*73C=)
12g.51786574C>GCA6571744SCN8Ac.3975C>G (p.Pro1325=)
c.1769C>G
c.2039C>G
c.3852C>G (p.Pro1284=)
n.226C>G
c.4008C>G (p.Pro1336=)
c.*73C>G (n.*73C>G)
 dbSNP ExAC gnomAD v2
12g.51786574C>TCA480061513SCN8Ac.3975C>T (p.Pro1325=)
c.1769C>T
c.2039C>T
c.3852C>T (p.Pro1284=)
n.226C>T
c.4008C>T (p.Pro1336=)
c.*73C>T (n.*73C>T)
12g.51786575T>ACA384904510SCN8Ac.3976T>A (p.Ser1326Thr)
c.1770T>A
c.2040T>A
c.3853T>A (p.Ser1285Thr)
n.227T>A
c.4009T>A (p.Ser1337Thr)
c.*74T>A (n.*74T>A)
12g.51786575T>CCA384904513SCN8Ac.3976T>C (p.Ser1326Pro)
c.1770T>C
c.2040T>C
c.3853T>C (p.Ser1285Pro)
n.227T>C
c.4009T>C (p.Ser1337Pro)
c.*74T>C (n.*74T>C)
12g.51786575T>GCA384904515SCN8Ac.3976T>G (p.Ser1326Ala)
c.1770T>G
c.2040T>G
c.3853T>G (p.Ser1285Ala)
n.227T>G
c.4009T>G (p.Ser1337Ala)
c.*74T>G (n.*74T>G)
12g.51786576C>ACA384904525SCN8Ac.3977C>A (p.Ser1326Tyr)
c.1771C>A
c.2041C>A
c.3854C>A (p.Ser1285Tyr)
n.228C>A
c.4010C>A (p.Ser1337Tyr)
c.*75C>A (n.*75C>A)
12g.51786576C>GCA384904527SCN8Ac.3977C>G (p.Ser1326Cys)
c.1771C>G
c.2041C>G
c.3854C>G (p.Ser1285Cys)
n.228C>G
c.4010C>G (p.Ser1337Cys)
c.*75C>G (n.*75C>G)
12g.51786576C>TCA384904530SCN8Ac.3977C>T (p.Ser1326Phe)
c.1771C>T
c.2041C>T
c.3854C>T (p.Ser1285Phe)
n.228C>T
c.4010C>T (p.Ser1337Phe)
c.*75C>T (n.*75C>T)
12g.51786577C>ACA480061517SCN8Ac.3978C>A (p.Ser1326=)
c.1772C>A
c.2042C>A
c.3855C>A (p.Ser1285=)
n.229C>A
c.4011C>A (p.Ser1337=)
c.*76C>A (n.*76C>A)
12g.51786577C>GCA480061515SCN8Ac.3978C>G (p.Ser1326=)
c.1772C>G
c.2042C>G
c.3855C>G (p.Ser1285=)
n.229C>G
c.4011C>G (p.Ser1337=)
c.*76C>G (n.*76C>G)
12g.51786577C>TCA480061516SCN8Ac.3978C>T (p.Ser1326=)
c.1772C>T
c.2042C>T
c.3855C>T (p.Ser1285=)
n.229C>T
c.4011C>T (p.Ser1337=)
c.*76C>T (n.*76C>T)
12g.51786578A=CA2036202781SCN8Ac.3979A= (p.Ile1327=)
c.1773A=
c.2043A=
c.3856A= (p.Ile1286=)
n.230A=
c.4012A= (p.Ile1338=)
c.*77A= (n.*77A=)
12g.51786578A>CCA384904532SCN8Ac.3979A>C (p.Ile1327Leu)
c.1773A>C
c.2043A>C
c.3856A>C (p.Ile1286Leu)
n.230A>C
c.4012A>C (p.Ile1338Leu)
c.*77A>C (n.*77A>C)
12g.51786578A>GCA10586295SCN8Ac.3979A>G (p.Ile1327Val)
c.1773A>G
c.2043A>G
c.3856A>G (p.Ile1286Val)
n.230A>G
c.4012A>G (p.Ile1338Val)
c.*77A>G (n.*77A>G)
 ClinVar dbSNP
12g.51786578A>TCA384904552SCN8Ac.3979A>T (p.Ile1327Phe)
c.1773A>T
c.2043A>T
c.3856A>T (p.Ile1286Phe)
n.230A>T
c.4012A>T (p.Ile1338Phe)
c.*77A>T (n.*77A>T)
12g.51786579T>ACA384904571SCN8Ac.3980T>A (p.Ile1327Asn)
c.1774T>A
c.2044T>A
c.3857T>A (p.Ile1286Asn)
n.231T>A
c.4013T>A (p.Ile1338Asn)
c.*78T>A (n.*78T>A)

Number of alleles fetched