Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51751518G>ACA480061154SCN8Ac.2295G>A (p.Leu765=)
c.142G>A
c.299G>A
n.2423G>A
c.2328G>A (p.Leu776=)
12g.51751518G>CCA480061155SCN8Ac.2295G>C (p.Leu765=)
c.142G>C
c.299G>C
n.2423G>C
c.2328G>C (p.Leu776=)
12g.51751518G>TCA480061156SCN8Ac.2295G>T (p.Leu765=)
c.142G>T
c.299G>T
n.2423G>T
c.2328G>T (p.Leu776=)
12g.51751519A>CCA384880062SCN8Ac.2296A>C (p.Asn766His)
c.143A>C
c.300A>C
n.2424A>C
c.2329A>C (p.Asn777His)
12g.51751519A>GCA384880063SCN8Ac.2296A>G (p.Asn766Asp)
c.143A>G
c.300A>G
n.2424A>G
c.2329A>G (p.Asn777Asp)
12g.51751519A>TCA384880064SCN8Ac.2296A>T (p.Asn766Tyr)
c.143A>T
c.300A>T
n.2424A>T
c.2329A>T (p.Asn777Tyr)
12g.51751520A>CCA384880065SCN8Ac.2297A>C (p.Asn766Thr)
c.144A>C
c.301A>C
n.2425A>C
c.2330A>C (p.Asn777Thr)
12g.51751520A>GCA384880066SCN8Ac.2297A>G (p.Asn766Ser)
c.144A>G
c.301A>G
n.2425A>G
c.2330A>G (p.Asn777Ser)
12g.51751520A>TCA384880067SCN8Ac.2297A>T (p.Asn766Ile)
c.144A>T
c.301A>T
n.2425A>T
c.2330A>T (p.Asn777Ile)
12g.51751521T>ACA384880069SCN8Ac.2298T>A (p.Asn766Lys)
c.145T>A
c.302T>A
n.2426T>A
c.2331T>A (p.Asn777Lys)
12g.51751521T>CCA480061158SCN8Ac.2298T>C (p.Asn766=)
c.145T>C
c.302T>C
n.2426T>C
c.2331T>C (p.Asn777=)
12g.51751521T>GCA384880068SCN8Ac.2298T>G (p.Asn766Lys)
c.145T>G
c.302T>G
n.2426T>G
c.2331T>G (p.Asn777Lys)
12g.51751522A>CCA384880070SCN8Ac.2299A>C (p.Thr767Pro)
c.146A>C
c.303A>C
n.2427A>C
c.2332A>C (p.Thr778Pro)
12g.51751522A>GCA384880071SCN8Ac.2299A>G (p.Thr767Ala)
c.146A>G
c.303A>G
n.2427A>G
c.2332A>G (p.Thr778Ala)
12g.51751522A>TCA384880072SCN8Ac.2299A>T (p.Thr767Ser)
c.146A>T
c.303A>T
n.2427A>T
c.2332A>T (p.Thr778Ser)
12g.51751523C>ACA384880073SCN8Ac.2300C>A (p.Thr767Lys)
c.147C>A
c.304C>A
n.2428C>A
c.2333C>A (p.Thr778Lys)
12g.51751523C=CA2036196305SCN8Ac.2300C= (p.Thr767=)
c.147C=
c.304C=
n.2428C=
c.2333C= (p.Thr778=)
12g.51751523C>GCA384880074SCN8Ac.2300C>G (p.Thr767Arg)
c.147C>G
c.304C>G
n.2428C>G
c.2333C>G (p.Thr778Arg)
12g.51751523C>TCA204472SCN8Ac.2300C>T (p.Thr767Ile)
c.147C>T
c.304C>T
n.2428C>T
c.2333C>T (p.Thr778Ile)
 ClinVar dbSNP
12g.51751524A=CA2036196311SCN8Ac.2301A= (p.Thr767=)
c.148A=
c.305A=
n.2429A=
c.2334A= (p.Thr778=)
12g.51751524A>CCA480061160SCN8Ac.2301A>C (p.Thr767=)
c.148A>C
c.305A>C
n.2429A>C
c.2334A>C (p.Thr778=)
 ClinVar dbSNP
12g.51751524A>GCA480061161SCN8Ac.2301A>G (p.Thr767=)
c.148A>G
c.305A>G
n.2429A>G
c.2334A>G (p.Thr778=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51751524A>TCA480061162SCN8Ac.2301A>T (p.Thr767=)
c.148A>T
c.305A>T
n.2429A>T
c.2334A>T (p.Thr778=)
12g.51751525C>ACA384880076SCN8Ac.2302C>A (p.Leu768Met)
c.149C>A
c.306C>A
n.2430C>A
c.2335C>A (p.Leu779Met)
12g.51751525C=CA2036196313SCN8Ac.2302C= (p.Leu768=)
c.149C=
c.306C=
n.2430C=
c.2335C= (p.Leu779=)
12g.51751525C>GCA384880075SCN8Ac.2302C>G (p.Leu768Val)
c.149C>G
c.306C>G
n.2430C>G
c.2335C>G (p.Leu779Val)
12g.51751525C>TCA480061163SCN8Ac.2302C>T (p.Leu768=)
c.149C>T
c.306C>T
n.2430C>T
c.2335C>T (p.Leu779=)
 ClinVar dbSNP gnomAD v4
12g.51751526T>ACA384880077SCN8Ac.2303T>A (p.Leu768Gln)
c.150T>A
c.307T>A
n.2431T>A
c.2336T>A (p.Leu779Gln)
12g.51751526T>CCA384880078SCN8Ac.2303T>C (p.Leu768Pro)
c.150T>C
c.307T>C
n.2431T>C
c.2336T>C (p.Leu779Pro)
12g.51751526T>GCA384880079SCN8Ac.2303T>G (p.Leu768Arg)
c.150T>G
c.307T>G
n.2431T>G
c.2336T>G (p.Leu779Arg)
12g.51751527G>ACA480061164SCN8Ac.2304G>A (p.Leu768=)
c.151G>A
c.308G>A
n.2432G>A
c.2337G>A (p.Leu779=)
 gnomAD v4
12g.51751527G>CCA480061166SCN8Ac.2304G>C (p.Leu768=)
c.151G>C
c.308G>C
n.2432G>C
c.2337G>C (p.Leu779=)
12g.51751527G>TCA480061165SCN8Ac.2304G>T (p.Leu768=)
c.151G>T
c.308G>T
n.2432G>T
c.2337G>T (p.Leu779=)
12g.51751528T>ACA384880080SCN8Ac.2305T>A (p.Phe769Ile)
c.152T>A
c.309T>A
n.2433T>A
c.2338T>A (p.Phe780Ile)
12g.51751528T>CCA384880081SCN8Ac.2305T>C (p.Phe769Leu)
c.152T>C
c.309T>C
n.2433T>C
c.2338T>C (p.Phe780Leu)
12g.51751528T>GCA384880082SCN8Ac.2305T>G (p.Phe769Val)
c.152T>G
c.309T>G
n.2433T>G
c.2338T>G (p.Phe780Val)
12g.51751529T>ACA384880083SCN8Ac.2306T>A (p.Phe769Tyr)
c.153T>A
c.310T>A
n.2434T>A
c.2339T>A (p.Phe780Tyr)
12g.51751529T>CCA384880085SCN8Ac.2306T>C (p.Phe769Ser)
c.153T>C
c.310T>C
n.2434T>C
c.2339T>C (p.Phe780Ser)
12g.51751529T>GCA384880084SCN8Ac.2306T>G (p.Phe769Cys)
c.153T>G
c.310T>G
n.2434T>G
c.2339T>G (p.Phe780Cys)
12g.51751530T>ACA384880086SCN8Ac.2307T>A (p.Phe769Leu)
c.154T>A
c.311T>A
n.2435T>A
c.2340T>A (p.Phe780Leu)
12g.51751530T>CCA480061167SCN8Ac.2307T>C (p.Phe769=)
c.154T>C
c.311T>C
n.2435T>C
c.2340T>C (p.Phe780=)
 gnomAD v4
12g.51751530T>GCA384880087SCN8Ac.2307T>G (p.Phe769Leu)
c.154T>G
c.311T>G
n.2435T>G
c.2340T>G (p.Phe780Leu)
12g.51751531A>CCA384880088SCN8Ac.2308A>C (p.Met770Leu)
c.155A>C
c.312A>C
n.2436A>C
c.2341A>C (p.Met781Leu)
12g.51751531A>GCA384880089SCN8Ac.2308A>G (p.Met770Val)
c.155A>G
c.312A>G
n.2436A>G
c.2341A>G (p.Met781Val)
12g.51751531A>TCA384880090SCN8Ac.2308A>T (p.Met770Leu)
c.155A>T
c.312A>T
n.2436A>T
c.2341A>T (p.Met781Leu)
12g.51751532T>ACA384880091SCN8Ac.2309T>A (p.Met770Lys)
c.156T>A
c.313T>A
n.2437T>A
c.2342T>A (p.Met781Lys)
12g.51751532T>CCA384880092SCN8Ac.2309T>C (p.Met770Thr)
c.156T>C
c.313T>C
n.2437T>C
c.2342T>C (p.Met781Thr)
12g.51751532T>GCA384880093SCN8Ac.2309T>G (p.Met770Arg)
c.156T>G
c.313T>G
n.2437T>G
c.2342T>G (p.Met781Arg)
12g.51751533G>ACA384880094SCN8Ac.2310G>A (p.Met770Ile)
c.157G>A
c.314G>A
n.2438G>A
c.2343G>A (p.Met781Ile)
12g.51751533G>CCA384880095SCN8Ac.2310G>C (p.Met770Ile)
c.157G>C
c.314G>C
n.2438G>C
c.2343G>C (p.Met781Ile)

Number of alleles fetched