Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51762576A>CCA384883782SCN8Ac.2444A>C (p.Glu815Ala)
c.291A>C
c.448A>C
n.2572A>C
c.2477A>C (p.Glu826Ala)
12g.51762576A>GCA384883783SCN8Ac.2444A>G (p.Glu815Gly)
c.291A>G
c.448A>G
n.2572A>G
c.2477A>G (p.Glu826Gly)
12g.51762576A>TCA384883784SCN8Ac.2444A>T (p.Glu815Val)
c.291A>T
c.448A>T
n.2572A>T
c.2477A>T (p.Glu826Val)
12g.51762577A>CCA384883788SCN8Ac.2445A>C (p.Glu815Asp)
c.292A>C
c.449A>C
n.2573A>C
c.2478A>C (p.Glu826Asp)
12g.51762577A>GCA479788246SCN8Ac.2445A>G (p.Glu815=)
c.292A>G
c.449A>G
n.2573A>G
c.2478A>G (p.Glu826=)
12g.51762577A>TCA384883790SCN8Ac.2445A>T (p.Glu815Asp)
c.292A>T
c.449A>T
n.2573A>T
c.2478A>T (p.Glu826Asp)
12g.51762578G>ACA384883792SCN8Ac.2446G>A (p.Gly816Ser)
c.293G>A
c.450G>A
n.2574G>A
c.2479G>A (p.Gly827Ser)
12g.51762578G>CCA384883801SCN8Ac.2446G>C (p.Gly816Arg)
c.293G>C
c.450G>C
n.2574G>C
c.2479G>C (p.Gly827Arg)
12g.51762578G>TCA384883803SCN8Ac.2446G>T (p.Gly816Cys)
c.293G>T
c.450G>T
n.2574G>T
c.2479G>T (p.Gly827Cys)
12g.51762579G>ACA384883820SCN8Ac.2447G>A (p.Gly816Asp)
c.294G>A
c.451G>A
n.2575G>A
c.2480G>A (p.Gly827Asp)
 ClinVar dbSNP
12g.51762579G>CCA384883810SCN8Ac.2447G>C (p.Gly816Ala)
c.294G>C
c.451G>C
n.2575G>C
c.2480G>C (p.Gly827Ala)
12g.51762579G>TCA384883817SCN8Ac.2447G>T (p.Gly816Val)
c.294G>T
c.451G>T
n.2575G>T
c.2480G>T (p.Gly827Val)
12g.51762580T>ACA479788247SCN8Ac.2448T>A (p.Gly816=)
c.295T>A
c.452T>A
n.2576T>A
c.2481T>A (p.Gly827=)
 ClinVar dbSNP
12g.51762580T>CCA236315784SCN8Ac.2448T>C (p.Gly816=)
c.295T>C
c.452T>C
n.2576T>C
c.2481T>C (p.Gly827=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51762580T>GCA479788248SCN8Ac.2448T>G (p.Gly816=)
c.295T>G
c.452T>G
n.2576T>G
c.2481T>G (p.Gly827=)
12g.51762580T=CA2036180348SCN8Ac.2448T= (p.Gly816=)
c.295T=
c.452T=
n.2576T=
c.2481T= (p.Gly827=)
12g.51762581T>ACA384883826SCN8Ac.2449T>A (p.Trp817Arg)
c.296T>A
c.453T>A
n.2577T>A
c.2482T>A (p.Trp828Arg)
12g.51762581T>CCA384883830SCN8Ac.2449T>C (p.Trp817Arg)
c.296T>C
c.453T>C
n.2577T>C
c.2482T>C (p.Trp828Arg)
12g.51762581T>GCA384883834SCN8Ac.2449T>G (p.Trp817Gly)
c.296T>G
c.453T>G
n.2577T>G
c.2482T>G (p.Trp828Gly)
12g.51762582G>ACA384883848SCN8Ac.2450G>A (p.Trp817Ter)
c.297G>A
c.454G>A
n.2578G>A
c.2483G>A (p.Trp828Ter)
12g.51762582G>CCA384883885SCN8Ac.2450G>C (p.Trp817Ser)
c.297G>C
c.454G>C
n.2578G>C
c.2483G>C (p.Trp828Ser)
12g.51762582G>TCA384883889SCN8Ac.2450G>T (p.Trp817Leu)
c.297G>T
c.454G>T
n.2578G>T
c.2483G>T (p.Trp828Leu)
12g.51762583G>ACA384883893SCN8Ac.2451G>A (p.Trp817Ter)
c.298G>A
c.455G>A
n.2579G>A
c.2484G>A (p.Trp828Ter)
12g.51762583G>CCA384883897SCN8Ac.2451G>C (p.Trp817Cys)
c.298G>C
c.455G>C
n.2579G>C
c.2484G>C (p.Trp828Cys)
12g.51762583G>TCA384883903SCN8Ac.2451G>T (p.Trp817Cys)
c.298G>T
c.455G>T
n.2579G>T
c.2484G>T (p.Trp828Cys)
12g.51762584A>CCA384883927SCN8Ac.2452A>C (p.Asn818His)
c.299A>C
c.456A>C
n.2580A>C
c.2485A>C (p.Asn829His)
12g.51762584A>GCA384883934SCN8Ac.2452A>G (p.Asn818Asp)
c.299A>G
c.456A>G
n.2580A>G
c.2485A>G (p.Asn829Asp)
12g.51762584A>TCA384883936SCN8Ac.2452A>T (p.Asn818Tyr)
c.299A>T
c.456A>T
n.2580A>T
c.2485A>T (p.Asn829Tyr)
12g.51762585A>CCA384883955SCN8Ac.2453A>C (p.Asn818Thr)
c.300A>C
c.457A>C
n.2581A>C
c.2486A>C (p.Asn829Thr)
12g.51762585A>GCA384883957SCN8Ac.2453A>G (p.Asn818Ser)
c.300A>G
c.457A>G
n.2581A>G
c.2486A>G (p.Asn829Ser)
 gnomAD v4
12g.51762585A>TCA384883952SCN8Ac.2453A>T (p.Asn818Ile)
c.300A>T
c.457A>T
n.2581A>T
c.2486A>T (p.Asn829Ile)
12g.51762586C>ACA384883964SCN8Ac.2454C>A (p.Asn818Lys)
c.301C>A
c.458C>A
n.2582C>A
c.2487C>A (p.Asn829Lys)
12g.51762586C>GCA384883959SCN8Ac.2454C>G (p.Asn818Lys)
c.301C>G
c.458C>G
n.2582C>G
c.2487C>G (p.Asn829Lys)
12g.51762586C>TCA479788249SCN8Ac.2454C>T (p.Asn818=)
c.301C>T
c.458C>T
n.2582C>T
c.2487C>T (p.Asn829=)
 gnomAD v3 gnomAD v4
12g.51762587A=CA2036180353SCN8Ac.2455A= (p.Ile819=)
c.302A=
c.459A=
n.2583A=
c.2488A= (p.Ile830=)
12g.51762587A>CCA384883973SCN8Ac.2455A>C (p.Ile819Leu)
c.302A>C
c.459A>C
n.2583A>C
c.2488A>C (p.Ile830Leu)
12g.51762587A>GCA384883974SCN8Ac.2455A>G (p.Ile819Val)
c.302A>G
c.459A>G
n.2583A>G
c.2488A>G (p.Ile830Val)
12g.51762587A>TCA384883976SCN8Ac.2455A>T (p.Ile819Phe)
c.302A>T
c.459A>T
n.2583A>T
c.2488A>T (p.Ile830Phe)
12g.51762588T>ACA384883983SCN8Ac.2456T>A (p.Ile819Asn)
c.303T>A
c.460T>A
n.2584T>A
c.2489T>A (p.Ile830Asn)
12g.51762588T>CCA384883989SCN8Ac.2456T>C (p.Ile819Thr)
c.303T>C
c.460T>C
n.2584T>C
c.2489T>C (p.Ile830Thr)
12g.51762588T>GCA384883992SCN8Ac.2456T>G (p.Ile819Ser)
c.303T>G
c.460T>G
n.2584T>G
c.2489T>G (p.Ile830Ser)
12g.51762592dupCA891843491SCN8Ac.2460dup (p.Asp821Ter)
c.307dup
c.464dup
n.2588dup
c.2493dup (p.Asp832Ter)
 ClinVar dbSNP
12g.51762589T>ACA479788250SCN8Ac.2457T>A (p.Ile819=)
c.304T>A
c.461T>A
n.2585T>A
c.2490T>A (p.Ile830=)
12g.51762589T>CCA479788251SCN8Ac.2457T>C (p.Ile819=)
c.304T>C
c.461T>C
n.2585T>C
c.2490T>C (p.Ile830=)
12g.51762589T>GCA384884014SCN8Ac.2457T>G (p.Ile819Met)
c.304T>G
c.461T>G
n.2585T>G
c.2490T>G (p.Ile830Met)
12g.51762590T>ACA384884027SCN8Ac.2458T>A (p.Phe820Ile)
c.305T>A
c.462T>A
n.2586T>A
c.2491T>A (p.Phe831Ile)
12g.51762590T>CCA384884036SCN8Ac.2458T>C (p.Phe820Leu)
c.305T>C
c.462T>C
n.2586T>C
c.2491T>C (p.Phe831Leu)
12g.51762590T>GCA384884030SCN8Ac.2458T>G (p.Phe820Val)
c.305T>G
c.462T>G
n.2586T>G
c.2491T>G (p.Phe831Val)
12g.51762591T>ACA384884042SCN8Ac.2459T>A (p.Phe820Tyr)
c.306T>A
c.463T>A
n.2587T>A
c.2492T>A (p.Phe831Tyr)
12g.51762591T>CCA384884044SCN8Ac.2459T>C (p.Phe820Ser)
c.306T>C
c.463T>C
n.2587T>C
c.2492T>C (p.Phe831Ser)

Number of alleles fetched