Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165386850C>ACA429972599SCN2Ac.4656C>A (p.Thr1552=)
c.*2975C>A (n.*2975C>A)
c.*2643C>A (n.*2643C>A)
c.*5179C>A (n.*5179C>A)
c.*2598C>A (n.*2598C>A)
c.4260C>A (p.Thr1420=)
n.8087C>A
c.4626C>A (p.Thr1542=)
c.3903C>A (p.Thr1301=)
c.2454C>A (p.Thr818=)
 gnomAD v4 COSMIC COSMIC
2g.165386850C=CA1304563773SCN2Ac.4656C= (p.Thr1552=)
c.*2975C= (n.*2975C=)
c.*2643C= (n.*2643C=)
c.*5179C= (n.*5179C=)
c.*2598C= (n.*2598C=)
c.4260C= (p.Thr1420=)
n.8087C=
c.4626C= (p.Thr1542=)
c.3903C= (p.Thr1301=)
c.2454C= (p.Thr818=)
2g.165386850C>GCA1940312SCN2Ac.4656C>G (p.Thr1552=)
c.*2975C>G (n.*2975C>G)
c.*2643C>G (n.*2643C>G)
c.*5179C>G (n.*5179C>G)
c.*2598C>G (n.*2598C>G)
c.4260C>G (p.Thr1420=)
n.8087C>G
c.4626C>G (p.Thr1542=)
c.3903C>G (p.Thr1301=)
c.2454C>G (p.Thr818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386850C>TCA1940313SCN2Ac.4656C>T (p.Thr1552=)
c.*2975C>T (n.*2975C>T)
c.*2643C>T (n.*2643C>T)
c.*5179C>T (n.*5179C>T)
c.*2598C>T (n.*2598C>T)
c.4260C>T (p.Thr1420=)
n.8087C>T
c.4626C>T (p.Thr1542=)
c.3903C>T (p.Thr1301=)
c.2454C>T (p.Thr818=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165386851G>ACA59750986SCN2Ac.4657G>A (p.Asp1553Asn)
c.*2976G>A (n.*2976G>A)
c.*2644G>A (n.*2644G>A)
c.*5180G>A (n.*5180G>A)
c.*2599G>A (n.*2599G>A)
c.4261G>A (p.Asp1421Asn)
n.8088G>A
c.4627G>A (p.Asp1543Asn)
c.3904G>A (p.Asp1302Asn)
c.2455G>A (p.Asp819Asn)
 ClinVar dbSNP gnomAD v4
2g.165386851G>CCA349036391SCN2Ac.4657G>C (p.Asp1553His)
c.*2976G>C (n.*2976G>C)
c.*2644G>C (n.*2644G>C)
c.*5180G>C (n.*5180G>C)
c.*2599G>C (n.*2599G>C)
c.4261G>C (p.Asp1421His)
n.8088G>C
c.4627G>C (p.Asp1543His)
c.3904G>C (p.Asp1302His)
c.2455G>C (p.Asp819His)
2g.165386851G=CA1304563774SCN2Ac.4657G= (p.Asp1553=)
c.*2976G= (n.*2976G=)
c.*2644G= (n.*2644G=)
c.*5180G= (n.*5180G=)
c.*2599G= (n.*2599G=)
c.4261G= (p.Asp1421=)
n.8088G=
c.4627G= (p.Asp1543=)
c.3904G= (p.Asp1302=)
c.2455G= (p.Asp819=)
2g.165386851G>TCA349036392SCN2Ac.4657G>T (p.Asp1553Tyr)
c.*2976G>T (n.*2976G>T)
c.*2644G>T (n.*2644G>T)
c.*5180G>T (n.*5180G>T)
c.*2599G>T (n.*2599G>T)
c.4261G>T (p.Asp1421Tyr)
n.8088G>T
c.4627G>T (p.Asp1543Tyr)
c.3904G>T (p.Asp1302Tyr)
c.2455G>T (p.Asp819Tyr)
2g.165386852A>CCA349036394SCN2Ac.4658A>C (p.Asp1553Ala)
c.*2977A>C (n.*2977A>C)
c.*2645A>C (n.*2645A>C)
c.*5181A>C (n.*5181A>C)
c.*2600A>C (n.*2600A>C)
c.4262A>C (p.Asp1421Ala)
n.8089A>C
c.4628A>C (p.Asp1543Ala)
c.3905A>C (p.Asp1302Ala)
c.2456A>C (p.Asp819Ala)
2g.165386852A>GCA349036395SCN2Ac.4658A>G (p.Asp1553Gly)
c.*2977A>G (n.*2977A>G)
c.*2645A>G (n.*2645A>G)
c.*5181A>G (n.*5181A>G)
c.*2600A>G (n.*2600A>G)
c.4262A>G (p.Asp1421Gly)
n.8089A>G
c.4628A>G (p.Asp1543Gly)
c.3905A>G (p.Asp1302Gly)
c.2456A>G (p.Asp819Gly)
2g.165386852A>TCA349036396SCN2Ac.4658A>T (p.Asp1553Val)
c.*2977A>T (n.*2977A>T)
c.*2645A>T (n.*2645A>T)
c.*5181A>T (n.*5181A>T)
c.*2600A>T (n.*2600A>T)
c.4262A>T (p.Asp1421Val)
n.8089A>T
c.4628A>T (p.Asp1543Val)
c.3905A>T (p.Asp1302Val)
c.2456A>T (p.Asp819Val)
2g.165386853T>ACA349036398SCN2Ac.4659T>A (p.Asp1553Glu)
c.*2978T>A (n.*2978T>A)
c.*2646T>A (n.*2646T>A)
c.*5182T>A (n.*5182T>A)
c.*2601T>A (n.*2601T>A)
c.4263T>A (p.Asp1421Glu)
n.8090T>A
c.4629T>A (p.Asp1543Glu)
c.3906T>A (p.Asp1302Glu)
c.2457T>A (p.Asp819Glu)
 gnomAD v4
2g.165386853T>CCA429972606SCN2Ac.4659T>C (p.Asp1553=)
c.*2978T>C (n.*2978T>C)
c.*2646T>C (n.*2646T>C)
c.*5182T>C (n.*5182T>C)
c.*2601T>C (n.*2601T>C)
c.4263T>C (p.Asp1421=)
n.8090T>C
c.4629T>C (p.Asp1543=)
c.3906T>C (p.Asp1302=)
c.2457T>C (p.Asp819=)
 ClinVar gnomAD v4
2g.165386853T>GCA349036400SCN2Ac.4659T>G (p.Asp1553Glu)
c.*2978T>G (n.*2978T>G)
c.*2646T>G (n.*2646T>G)
c.*5182T>G (n.*5182T>G)
c.*2601T>G (n.*2601T>G)
c.4263T>G (p.Asp1421Glu)
n.8090T>G
c.4629T>G (p.Asp1543Glu)
c.3906T>G (p.Asp1302Glu)
c.2457T>G (p.Asp819Glu)
2g.165386854G>ACA349036402SCN2Ac.4660G>A (p.Asp1554Asn)
c.*2979G>A (n.*2979G>A)
c.*2647G>A (n.*2647G>A)
c.*5183G>A (n.*5183G>A)
c.*2602G>A (n.*2602G>A)
c.4264G>A (p.Asp1422Asn)
n.8091G>A
c.4630G>A (p.Asp1544Asn)
c.3907G>A (p.Asp1303Asn)
c.2458G>A (p.Asp820Asn)
2g.165386854G>CCA349036403SCN2Ac.4660G>C (p.Asp1554His)
c.*2979G>C (n.*2979G>C)
c.*2647G>C (n.*2647G>C)
c.*5183G>C (n.*5183G>C)
c.*2602G>C (n.*2602G>C)
c.4264G>C (p.Asp1422His)
n.8091G>C
c.4630G>C (p.Asp1544His)
c.3907G>C (p.Asp1303His)
c.2458G>C (p.Asp820His)
2g.165386854G>TCA349036405SCN2Ac.4660G>T (p.Asp1554Tyr)
c.*2979G>T (n.*2979G>T)
c.*2647G>T (n.*2647G>T)
c.*5183G>T (n.*5183G>T)
c.*2602G>T (n.*2602G>T)
c.4264G>T (p.Asp1422Tyr)
n.8091G>T
c.4630G>T (p.Asp1544Tyr)
c.3907G>T (p.Asp1303Tyr)
c.2458G>T (p.Asp820Tyr)
 ClinVar
2g.165386855A=CA1304563775SCN2Ac.4661A= (p.Asp1554=)
c.*2980A= (n.*2980A=)
c.*2648A= (n.*2648A=)
c.*5184A= (n.*5184A=)
c.*2603A= (n.*2603A=)
c.4265A= (p.Asp1422=)
n.8092A=
c.4631A= (p.Asp1544=)
c.3908A= (p.Asp1303=)
c.2459A= (p.Asp820=)
2g.165386855A>CCA349036406SCN2Ac.4661A>C (p.Asp1554Ala)
c.*2980A>C (n.*2980A>C)
c.*2648A>C (n.*2648A>C)
c.*5184A>C (n.*5184A>C)
c.*2603A>C (n.*2603A>C)
c.4265A>C (p.Asp1422Ala)
n.8092A>C
c.4631A>C (p.Asp1544Ala)
c.3908A>C (p.Asp1303Ala)
c.2459A>C (p.Asp820Ala)
2g.165386855A>GCA318196SCN2Ac.4661A>G (p.Asp1554Gly)
c.*2980A>G (n.*2980A>G)
c.*2648A>G (n.*2648A>G)
c.*5184A>G (n.*5184A>G)
c.*2603A>G (n.*2603A>G)
c.4265A>G (p.Asp1422Gly)
n.8092A>G
c.4631A>G (p.Asp1544Gly)
c.3908A>G (p.Asp1303Gly)
c.2459A>G (p.Asp820Gly)
 ClinVar dbSNP gnomAD v4
2g.165386855A>TCA349036407SCN2Ac.4661A>T (p.Asp1554Val)
c.*2980A>T (n.*2980A>T)
c.*2648A>T (n.*2648A>T)
c.*5184A>T (n.*5184A>T)
c.*2603A>T (n.*2603A>T)
c.4265A>T (p.Asp1422Val)
n.8092A>T
c.4631A>T (p.Asp1544Val)
c.3908A>T (p.Asp1303Val)
c.2459A>T (p.Asp820Val)
2g.165386856C>ACA349036409SCN2Ac.4662C>A (p.Asp1554Glu)
c.*2981C>A (n.*2981C>A)
c.*2649C>A (n.*2649C>A)
c.*5185C>A (n.*5185C>A)
c.*2604C>A (n.*2604C>A)
c.4266C>A (p.Asp1422Glu)
n.8093C>A
c.4632C>A (p.Asp1544Glu)
c.3909C>A (p.Asp1303Glu)
c.2460C>A (p.Asp820Glu)
2g.165386856C>GCA349036411SCN2Ac.4662C>G (p.Asp1554Glu)
c.*2981C>G (n.*2981C>G)
c.*2649C>G (n.*2649C>G)
c.*5185C>G (n.*5185C>G)
c.*2604C>G (n.*2604C>G)
c.4266C>G (p.Asp1422Glu)
n.8093C>G
c.4632C>G (p.Asp1544Glu)
c.3909C>G (p.Asp1303Glu)
c.2460C>G (p.Asp820Glu)
2g.165386856C>TCA429972611SCN2Ac.4662C>T (p.Asp1554=)
c.*2981C>T (n.*2981C>T)
c.*2649C>T (n.*2649C>T)
c.*5185C>T (n.*5185C>T)
c.*2604C>T (n.*2604C>T)
c.4266C>T (p.Asp1422=)
n.8093C>T
c.4632C>T (p.Asp1544=)
c.3909C>T (p.Asp1303=)
c.2460C>T (p.Asp820=)
 gnomAD v4
2g.165386857C>ACA349036412SCN2Ac.4663C>A (p.Gln1555Lys)
c.*2982C>A (n.*2982C>A)
c.*2650C>A (n.*2650C>A)
c.*5186C>A (n.*5186C>A)
c.*2605C>A (n.*2605C>A)
c.4267C>A (p.Gln1423Lys)
n.8094C>A
c.4633C>A (p.Gln1545Lys)
c.3910C>A (p.Gln1304Lys)
c.2461C>A (p.Gln821Lys)
2g.165386857C=CA1304563776SCN2Ac.4663C= (p.Gln1555=)
c.*2982C= (n.*2982C=)
c.*2650C= (n.*2650C=)
c.*5186C= (n.*5186C=)
c.*2605C= (n.*2605C=)
c.4267C= (p.Gln1423=)
n.8094C=
c.4633C= (p.Gln1545=)
c.3910C= (p.Gln1304=)
c.2461C= (p.Gln821=)
2g.165386857C>GCA349036416SCN2Ac.4663C>G (p.Gln1555Glu)
c.*2982C>G (n.*2982C>G)
c.*2650C>G (n.*2650C>G)
c.*5186C>G (n.*5186C>G)
c.*2605C>G (n.*2605C>G)
c.4267C>G (p.Gln1423Glu)
n.8094C>G
c.4633C>G (p.Gln1545Glu)
c.3910C>G (p.Gln1304Glu)
c.2461C>G (p.Gln821Glu)
2g.165386857C>TCA349036414SCN2Ac.4663C>T (p.Gln1555Ter)
c.*2982C>T (n.*2982C>T)
c.*2650C>T (n.*2650C>T)
c.*5186C>T (n.*5186C>T)
c.*2605C>T (n.*2605C>T)
c.4267C>T (p.Gln1423Ter)
n.8094C>T
c.4633C>T (p.Gln1545Ter)
c.3910C>T (p.Gln1304Ter)
c.2461C>T (p.Gln821Ter)
 dbSNP
2g.165386858A>CCA349036418SCN2Ac.4664A>C (p.Gln1555Pro)
c.*2983A>C (n.*2983A>C)
c.*2651A>C (n.*2651A>C)
c.*5187A>C (n.*5187A>C)
c.*2606A>C (n.*2606A>C)
c.4268A>C (p.Gln1423Pro)
n.8095A>C
c.4634A>C (p.Gln1545Pro)
c.3911A>C (p.Gln1304Pro)
c.2462A>C (p.Gln821Pro)
2g.165386858A>GCA349036421SCN2Ac.4664A>G (p.Gln1555Arg)
c.*2983A>G (n.*2983A>G)
c.*2651A>G (n.*2651A>G)
c.*5187A>G (n.*5187A>G)
c.*2606A>G (n.*2606A>G)
c.4268A>G (p.Gln1423Arg)
n.8095A>G
c.4634A>G (p.Gln1545Arg)
c.3911A>G (p.Gln1304Arg)
c.2462A>G (p.Gln821Arg)
2g.165386858A>TCA349036420SCN2Ac.4664A>T (p.Gln1555Leu)
c.*2983A>T (n.*2983A>T)
c.*2651A>T (n.*2651A>T)
c.*5187A>T (n.*5187A>T)
c.*2606A>T (n.*2606A>T)
c.4268A>T (p.Gln1423Leu)
n.8095A>T
c.4634A>T (p.Gln1545Leu)
c.3911A>T (p.Gln1304Leu)
c.2462A>T (p.Gln821Leu)
2g.165386859G>ACA429972613SCN2Ac.4665G>A (p.Gln1555=)
c.*2984G>A (n.*2984G>A)
c.*2652G>A (n.*2652G>A)
c.*5188G>A (n.*5188G>A)
c.*2607G>A (n.*2607G>A)
c.4269G>A (p.Gln1423=)
n.8096G>A
c.4635G>A (p.Gln1545=)
c.3912G>A (p.Gln1304=)
c.2463G>A (p.Gln821=)
2g.165386859G>CCA349036423SCN2Ac.4665G>C (p.Gln1555His)
c.*2984G>C (n.*2984G>C)
c.*2652G>C (n.*2652G>C)
c.*5188G>C (n.*5188G>C)
c.*2607G>C (n.*2607G>C)
c.4269G>C (p.Gln1423His)
n.8096G>C
c.4635G>C (p.Gln1545His)
c.3912G>C (p.Gln1304His)
c.2463G>C (p.Gln821His)
 ClinVar dbSNP
2g.165386859G=CA1304563777SCN2Ac.4665G= (p.Gln1555=)
c.*2984G= (n.*2984G=)
c.*2652G= (n.*2652G=)
c.*5188G= (n.*5188G=)
c.*2607G= (n.*2607G=)
c.4269G= (p.Gln1423=)
n.8096G=
c.4635G= (p.Gln1545=)
c.3912G= (p.Gln1304=)
c.2463G= (p.Gln821=)
2g.165386859G>TCA349036424SCN2Ac.4665G>T (p.Gln1555His)
c.*2984G>T (n.*2984G>T)
c.*2652G>T (n.*2652G>T)
c.*5188G>T (n.*5188G>T)
c.*2607G>T (n.*2607G>T)
c.4269G>T (p.Gln1423His)
n.8096G>T
c.4635G>T (p.Gln1545His)
c.3912G>T (p.Gln1304His)
c.2463G>T (p.Gln821His)
2g.165386860A>CCA349036425SCN2Ac.4666A>C (p.Ser1556Arg)
c.*2985A>C (n.*2985A>C)
c.*2653A>C (n.*2653A>C)
c.*5189A>C (n.*5189A>C)
c.*2608A>C (n.*2608A>C)
c.4270A>C (p.Ser1424Arg)
n.8097A>C
c.4636A>C (p.Ser1546Arg)
c.3913A>C (p.Ser1305Arg)
c.2464A>C (p.Ser822Arg)
2g.165386860A>GCA349036427SCN2Ac.4666A>G (p.Ser1556Gly)
c.*2985A>G (n.*2985A>G)
c.*2653A>G (n.*2653A>G)
c.*5189A>G (n.*5189A>G)
c.*2608A>G (n.*2608A>G)
c.4270A>G (p.Ser1424Gly)
n.8097A>G
c.4636A>G (p.Ser1546Gly)
c.3913A>G (p.Ser1305Gly)
c.2464A>G (p.Ser822Gly)
2g.165386860A>TCA349036428SCN2Ac.4666A>T (p.Ser1556Cys)
c.*2985A>T (n.*2985A>T)
c.*2653A>T (n.*2653A>T)
c.*5189A>T (n.*5189A>T)
c.*2608A>T (n.*2608A>T)
c.4270A>T (p.Ser1424Cys)
n.8097A>T
c.4636A>T (p.Ser1546Cys)
c.3913A>T (p.Ser1305Cys)
c.2464A>T (p.Ser822Cys)
2g.165386861G>ACA349036430SCN2Ac.4667G>A (p.Ser1556Asn)
c.*2986G>A (n.*2986G>A)
c.*2654G>A (n.*2654G>A)
c.*5190G>A (n.*5190G>A)
c.*2609G>A (n.*2609G>A)
c.4271G>A (p.Ser1424Asn)
n.8098G>A
c.4637G>A (p.Ser1546Asn)
c.3914G>A (p.Ser1305Asn)
c.2465G>A (p.Ser822Asn)
2g.165386861G>CCA349036432SCN2Ac.4667G>C (p.Ser1556Thr)
c.*2986G>C (n.*2986G>C)
c.*2654G>C (n.*2654G>C)
c.*5190G>C (n.*5190G>C)
c.*2609G>C (n.*2609G>C)
c.4271G>C (p.Ser1424Thr)
n.8098G>C
c.4637G>C (p.Ser1546Thr)
c.3914G>C (p.Ser1305Thr)
c.2465G>C (p.Ser822Thr)
 ClinVar
2g.165386861G=CA1304563778SCN2Ac.4667G= (p.Ser1556=)
c.*2986G= (n.*2986G=)
c.*2654G= (n.*2654G=)
c.*5190G= (n.*5190G=)
c.*2609G= (n.*2609G=)
c.4271G= (p.Ser1424=)
n.8098G=
c.4637G= (p.Ser1546=)
c.3914G= (p.Ser1305=)
c.2465G= (p.Ser822=)
2g.165386861G>TCA59750995SCN2Ac.4667G>T (p.Ser1556Ile)
c.*2986G>T (n.*2986G>T)
c.*2654G>T (n.*2654G>T)
c.*5190G>T (n.*5190G>T)
c.*2609G>T (n.*2609G>T)
c.4271G>T (p.Ser1424Ile)
n.8098G>T
c.4637G>T (p.Ser1546Ile)
c.3914G>T (p.Ser1305Ile)
c.2465G>T (p.Ser822Ile)
 dbSNP
2g.165386862T>ACA349036433SCN2Ac.4668T>A (p.Ser1556Arg)
c.*2987T>A (n.*2987T>A)
c.*2655T>A (n.*2655T>A)
c.*5191T>A (n.*5191T>A)
c.*2610T>A (n.*2610T>A)
c.4272T>A (p.Ser1424Arg)
n.8099T>A
c.4638T>A (p.Ser1546Arg)
c.3915T>A (p.Ser1305Arg)
c.2466T>A (p.Ser822Arg)
2g.165386862T>CCA429972617SCN2Ac.4668T>C (p.Ser1556=)
c.*2987T>C (n.*2987T>C)
c.*2655T>C (n.*2655T>C)
c.*5191T>C (n.*5191T>C)
c.*2610T>C (n.*2610T>C)
c.4272T>C (p.Ser1424=)
n.8099T>C
c.4638T>C (p.Ser1546=)
c.3915T>C (p.Ser1305=)
c.2466T>C (p.Ser822=)
2g.165386862T>GCA349036435SCN2Ac.4668T>G (p.Ser1556Arg)
c.*2987T>G (n.*2987T>G)
c.*2655T>G (n.*2655T>G)
c.*5191T>G (n.*5191T>G)
c.*2610T>G (n.*2610T>G)
c.4272T>G (p.Ser1424Arg)
n.8099T>G
c.4638T>G (p.Ser1546Arg)
c.3915T>G (p.Ser1305Arg)
c.2466T>G (p.Ser822Arg)
 dbSNP
2g.165386862T=CA1304563779SCN2Ac.4668T= (p.Ser1556=)
c.*2987T= (n.*2987T=)
c.*2655T= (n.*2655T=)
c.*5191T= (n.*5191T=)
c.*2610T= (n.*2610T=)
c.4272T= (p.Ser1424=)
n.8099T=
c.4638T= (p.Ser1546=)
c.3915T= (p.Ser1305=)
c.2466T= (p.Ser822=)
2g.165386863C>ACA349036440SCN2Ac.4669C>A (p.Gln1557Lys)
c.*2988C>A (n.*2988C>A)
c.*2656C>A (n.*2656C>A)
c.*5192C>A (n.*5192C>A)
c.*2611C>A (n.*2611C>A)
c.4273C>A (p.Gln1425Lys)
n.8100C>A
c.4639C>A (p.Gln1547Lys)
c.3916C>A (p.Gln1306Lys)
c.2467C>A (p.Gln823Lys)
2g.165386863C=CA1304563780SCN2Ac.4669C= (p.Gln1557=)
c.*2988C= (n.*2988C=)
c.*2656C= (n.*2656C=)
c.*5192C= (n.*5192C=)
c.*2611C= (n.*2611C=)
c.4273C= (p.Gln1425=)
n.8100C=
c.4639C= (p.Gln1547=)
c.3916C= (p.Gln1306=)
c.2467C= (p.Gln823=)
2g.165386863C>GCA349036438SCN2Ac.4669C>G (p.Gln1557Glu)
c.*2988C>G (n.*2988C>G)
c.*2656C>G (n.*2656C>G)
c.*5192C>G (n.*5192C>G)
c.*2611C>G (n.*2611C>G)
c.4273C>G (p.Gln1425Glu)
n.8100C>G
c.4639C>G (p.Gln1547Glu)
c.3916C>G (p.Gln1306Glu)
c.2467C>G (p.Gln823Glu)
2g.165386863C>TCA349036437SCN2Ac.4669C>T (p.Gln1557Ter)
c.*2988C>T (n.*2988C>T)
c.*2656C>T (n.*2656C>T)
c.*5192C>T (n.*5192C>T)
c.*2611C>T (n.*2611C>T)
c.4273C>T (p.Gln1425Ter)
n.8100C>T
c.4639C>T (p.Gln1547Ter)
c.3916C>T (p.Gln1306Ter)
c.2467C>T (p.Gln823Ter)
 dbSNP
2g.165386864A>CCA349036441SCN2Ac.4670A>C (p.Gln1557Pro)
c.*2989A>C (n.*2989A>C)
c.*2657A>C (n.*2657A>C)
c.*5193A>C (n.*5193A>C)
c.*2612A>C (n.*2612A>C)
c.4274A>C (p.Gln1425Pro)
n.8101A>C
c.4640A>C (p.Gln1547Pro)
c.3917A>C (p.Gln1306Pro)
c.2468A>C (p.Gln823Pro)
2g.165386864A>GCA349036442SCN2Ac.4670A>G (p.Gln1557Arg)
c.*2989A>G (n.*2989A>G)
c.*2657A>G (n.*2657A>G)
c.*5193A>G (n.*5193A>G)
c.*2612A>G (n.*2612A>G)
c.4274A>G (p.Gln1425Arg)
n.8101A>G
c.4640A>G (p.Gln1547Arg)
c.3917A>G (p.Gln1306Arg)
c.2468A>G (p.Gln823Arg)
 gnomAD v4
2g.165386864A>TCA349036444SCN2Ac.4670A>T (p.Gln1557Leu)
c.*2989A>T (n.*2989A>T)
c.*2657A>T (n.*2657A>T)
c.*5193A>T (n.*5193A>T)
c.*2612A>T (n.*2612A>T)
c.4274A>T (p.Gln1425Leu)
n.8101A>T
c.4640A>T (p.Gln1547Leu)
c.3917A>T (p.Gln1306Leu)
c.2468A>T (p.Gln823Leu)
2g.165386865dupCA760137600SCN2Ac.4671dup (p.Glu1558ArgfsTer10)
c.*2990dup (n.*2990dup)
c.*2658dup (n.*2658dup)
c.*5194dup (n.*5194dup)
c.*2613dup (n.*2613dup)
c.4275dup (p.Glu1426ArgfsTer10)
n.8102dup
c.4641dup (p.Glu1548ArgfsTer10)
c.3918dup (p.Glu1307ArgfsTer10)
c.2469dup (p.Glu824ArgfsTer10)
 dbSNP
2g.165386865A=CA1304563781SCN2Ac.4671A= (p.Gln1557=)
c.*2990A= (n.*2990A=)
c.*2658A= (n.*2658A=)
c.*5194A= (n.*5194A=)
c.*2613A= (n.*2613A=)
c.4275A= (p.Gln1425=)
n.8102A=
c.4641A= (p.Gln1547=)
c.3918A= (p.Gln1306=)
c.2469A= (p.Gln823=)
2g.165386865A>CCA349036446SCN2Ac.4671A>C (p.Gln1557His)
c.*2990A>C (n.*2990A>C)
c.*2658A>C (n.*2658A>C)
c.*5194A>C (n.*5194A>C)
c.*2613A>C (n.*2613A>C)
c.4275A>C (p.Gln1425His)
n.8102A>C
c.4641A>C (p.Gln1547His)
c.3918A>C (p.Gln1306His)
c.2469A>C (p.Gln823His)
2g.165386865A>GCA1940314SCN2Ac.4671A>G (p.Gln1557=)
c.*2990A>G (n.*2990A>G)
c.*2658A>G (n.*2658A>G)
c.*5194A>G (n.*5194A>G)
c.*2613A>G (n.*2613A>G)
c.4275A>G (p.Gln1425=)
n.8102A>G
c.4641A>G (p.Gln1547=)
c.3918A>G (p.Gln1306=)
c.2469A>G (p.Gln823=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386865A>TCA349036448SCN2Ac.4671A>T (p.Gln1557His)
c.*2990A>T (n.*2990A>T)
c.*2658A>T (n.*2658A>T)
c.*5194A>T (n.*5194A>T)
c.*2613A>T (n.*2613A>T)
c.4275A>T (p.Gln1425His)
n.8102A>T
c.4641A>T (p.Gln1547His)
c.3918A>T (p.Gln1306His)
c.2469A>T (p.Gln823His)
2g.165386866G>ACA349036449SCN2Ac.4672G>A (p.Glu1558Lys)
c.*2991G>A (n.*2991G>A)
c.*2659G>A (n.*2659G>A)
c.*5195G>A (n.*5195G>A)
c.*2614G>A (n.*2614G>A)
c.4276G>A (p.Glu1426Lys)
n.8103G>A
c.4642G>A (p.Glu1548Lys)
c.3919G>A (p.Glu1307Lys)
c.2470G>A (p.Glu824Lys)
 COSMIC COSMIC
2g.165386866G>CCA349036451SCN2Ac.4672G>C (p.Glu1558Gln)
c.*2991G>C (n.*2991G>C)
c.*2659G>C (n.*2659G>C)
c.*5195G>C (n.*5195G>C)
c.*2614G>C (n.*2614G>C)
c.4276G>C (p.Glu1426Gln)
n.8103G>C
c.4642G>C (p.Glu1548Gln)
c.3919G>C (p.Glu1307Gln)
c.2470G>C (p.Glu824Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165386866G=CA1304563782SCN2Ac.4672G= (p.Glu1558=)
c.*2991G= (n.*2991G=)
c.*2659G= (n.*2659G=)
c.*5195G= (n.*5195G=)
c.*2614G= (n.*2614G=)
c.4276G= (p.Glu1426=)
n.8103G=
c.4642G= (p.Glu1548=)
c.3919G= (p.Glu1307=)
c.2470G= (p.Glu824=)
2g.165386866G>TCA349036452SCN2Ac.4672G>T (p.Glu1558Ter)
c.*2991G>T (n.*2991G>T)
c.*2659G>T (n.*2659G>T)
c.*5195G>T (n.*5195G>T)
c.*2614G>T (n.*2614G>T)
c.4276G>T (p.Glu1426Ter)
n.8103G>T
c.4642G>T (p.Glu1548Ter)
c.3919G>T (p.Glu1307Ter)
c.2470G>T (p.Glu824Ter)
 dbSNP
2g.165386867A>CCA349036454SCN2Ac.4673A>C (p.Glu1558Ala)
c.*2992A>C (n.*2992A>C)
c.*2660A>C (n.*2660A>C)
c.*5196A>C (n.*5196A>C)
c.*2615A>C (n.*2615A>C)
c.4277A>C (p.Glu1426Ala)
n.8104A>C
c.4643A>C (p.Glu1548Ala)
c.3920A>C (p.Glu1307Ala)
c.2471A>C (p.Glu824Ala)
2g.165386867A>GCA349036455SCN2Ac.4673A>G (p.Glu1558Gly)
c.*2992A>G (n.*2992A>G)
c.*2660A>G (n.*2660A>G)
c.*5196A>G (n.*5196A>G)
c.*2615A>G (n.*2615A>G)
c.4277A>G (p.Glu1426Gly)
n.8104A>G
c.4643A>G (p.Glu1548Gly)
c.3920A>G (p.Glu1307Gly)
c.2471A>G (p.Glu824Gly)
2g.165386867A>TCA349036456SCN2Ac.4673A>T (p.Glu1558Val)
c.*2992A>T (n.*2992A>T)
c.*2660A>T (n.*2660A>T)
c.*5196A>T (n.*5196A>T)
c.*2615A>T (n.*2615A>T)
c.4277A>T (p.Glu1426Val)
n.8104A>T
c.4643A>T (p.Glu1548Val)
c.3920A>T (p.Glu1307Val)
c.2471A>T (p.Glu824Val)
2g.165386868A>CCA349036458SCN2Ac.4674A>C (p.Glu1558Asp)
c.*2993A>C (n.*2993A>C)
c.*2661A>C (n.*2661A>C)
c.*5197A>C (n.*5197A>C)
c.*2616A>C (n.*2616A>C)
c.4278A>C (p.Glu1426Asp)
n.8105A>C
c.4644A>C (p.Glu1548Asp)
c.3921A>C (p.Glu1307Asp)
c.2472A>C (p.Glu824Asp)
2g.165386868A>GCA429972627SCN2Ac.4674A>G (p.Glu1558=)
c.*2993A>G (n.*2993A>G)
c.*2661A>G (n.*2661A>G)
c.*5197A>G (n.*5197A>G)
c.*2616A>G (n.*2616A>G)
c.4278A>G (p.Glu1426=)
n.8105A>G
c.4644A>G (p.Glu1548=)
c.3921A>G (p.Glu1307=)
c.2472A>G (p.Glu824=)
2g.165386868A>TCA349036459SCN2Ac.4674A>T (p.Glu1558Asp)
c.*2993A>T (n.*2993A>T)
c.*2661A>T (n.*2661A>T)
c.*5197A>T (n.*5197A>T)
c.*2616A>T (n.*2616A>T)
c.4278A>T (p.Glu1426Asp)
n.8105A>T
c.4644A>T (p.Glu1548Asp)
c.3921A>T (p.Glu1307Asp)
c.2472A>T (p.Glu824Asp)
2g.165386869A=CA1304563783SCN2Ac.4675A= (p.Met1559=)
c.*2994A= (n.*2994A=)
c.*2662A= (n.*2662A=)
c.*5198A= (n.*5198A=)
c.*2617A= (n.*2617A=)
c.4279A= (p.Met1427=)
n.8106A=
c.4645A= (p.Met1549=)
c.3922A= (p.Met1308=)
c.2473A= (p.Met825=)
2g.165386869A>CCA349036460SCN2Ac.4675A>C (p.Met1559Leu)
c.*2994A>C (n.*2994A>C)
c.*2662A>C (n.*2662A>C)
c.*5198A>C (n.*5198A>C)
c.*2617A>C (n.*2617A>C)
c.4279A>C (p.Met1427Leu)
n.8106A>C
c.4645A>C (p.Met1549Leu)
c.3922A>C (p.Met1308Leu)
c.2473A>C (p.Met825Leu)
 dbSNP
2g.165386869A>GCA349036461SCN2Ac.4675A>G (p.Met1559Val)
c.*2994A>G (n.*2994A>G)
c.*2662A>G (n.*2662A>G)
c.*5198A>G (n.*5198A>G)
c.*2617A>G (n.*2617A>G)
c.4279A>G (p.Met1427Val)
n.8106A>G
c.4645A>G (p.Met1549Val)
c.3922A>G (p.Met1308Val)
c.2473A>G (p.Met825Val)
 dbSNP gnomAD v2 gnomAD v4
2g.165386869A>TCA349036462SCN2Ac.4675A>T (p.Met1559Leu)
c.*2994A>T (n.*2994A>T)
c.*2662A>T (n.*2662A>T)
c.*5198A>T (n.*5198A>T)
c.*2617A>T (n.*2617A>T)
c.4279A>T (p.Met1427Leu)
n.8106A>T
c.4645A>T (p.Met1549Leu)
c.3922A>T (p.Met1308Leu)
c.2473A>T (p.Met825Leu)
2g.165386870T>ACA349036464SCN2Ac.4676T>A (p.Met1559Lys)
c.*2995T>A (n.*2995T>A)
c.*2663T>A (n.*2663T>A)
c.*5199T>A (n.*5199T>A)
c.*2618T>A (n.*2618T>A)
c.4280T>A (p.Met1427Lys)
n.8107T>A
c.4646T>A (p.Met1549Lys)
c.3923T>A (p.Met1308Lys)
c.2474T>A (p.Met825Lys)
2g.165386870T>CCA349036465SCN2Ac.4676T>C (p.Met1559Thr)
c.*2995T>C (n.*2995T>C)
c.*2663T>C (n.*2663T>C)
c.*5199T>C (n.*5199T>C)
c.*2618T>C (n.*2618T>C)
c.4280T>C (p.Met1427Thr)
n.8107T>C
c.4646T>C (p.Met1549Thr)
c.3923T>C (p.Met1308Thr)
c.2474T>C (p.Met825Thr)
2g.165386870T>GCA349036467SCN2Ac.4676T>G (p.Met1559Arg)
c.*2995T>G (n.*2995T>G)
c.*2663T>G (n.*2663T>G)
c.*5199T>G (n.*5199T>G)
c.*2618T>G (n.*2618T>G)
c.4280T>G (p.Met1427Arg)
n.8107T>G
c.4646T>G (p.Met1549Arg)
c.3923T>G (p.Met1308Arg)
c.2474T>G (p.Met825Arg)
2g.165386871G>ACA349036468SCN2Ac.4677G>A (p.Met1559Ile)
c.*2996G>A (n.*2996G>A)
c.*2664G>A (n.*2664G>A)
c.*5200G>A (n.*5200G>A)
c.*2619G>A (n.*2619G>A)
c.4281G>A (p.Met1427Ile)
n.8108G>A
c.4647G>A (p.Met1549Ile)
c.3924G>A (p.Met1308Ile)
c.2475G>A (p.Met825Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.165386871G>CCA349036469SCN2Ac.4677G>C (p.Met1559Ile)
c.*2996G>C (n.*2996G>C)
c.*2664G>C (n.*2664G>C)
c.*5200G>C (n.*5200G>C)
c.*2619G>C (n.*2619G>C)
c.4281G>C (p.Met1427Ile)
n.8108G>C
c.4647G>C (p.Met1549Ile)
c.3924G>C (p.Met1308Ile)
c.2475G>C (p.Met825Ile)
2g.165386871G=CA1304563784SCN2Ac.4677G= (p.Met1559=)
c.*2996G= (n.*2996G=)
c.*2664G= (n.*2664G=)
c.*5200G= (n.*5200G=)
c.*2619G= (n.*2619G=)
c.4281G= (p.Met1427=)
n.8108G=
c.4647G= (p.Met1549=)
c.3924G= (p.Met1308=)
c.2475G= (p.Met825=)
2g.165386871G>TCA349036471SCN2Ac.4677G>T (p.Met1559Ile)
c.*2996G>T (n.*2996G>T)
c.*2664G>T (n.*2664G>T)
c.*5200G>T (n.*5200G>T)
c.*2619G>T (n.*2619G>T)
c.4281G>T (p.Met1427Ile)
n.8108G>T
c.4647G>T (p.Met1549Ile)
c.3924G>T (p.Met1308Ile)
c.2475G>T (p.Met825Ile)
 dbSNP
2g.165386872A>CCA349036472SCN2Ac.4678A>C (p.Thr1560Pro)
c.*2997A>C (n.*2997A>C)
c.*2665A>C (n.*2665A>C)
c.*5201A>C (n.*5201A>C)
c.*2620A>C (n.*2620A>C)
c.4282A>C (p.Thr1428Pro)
n.8109A>C
c.4648A>C (p.Thr1550Pro)
c.3925A>C (p.Thr1309Pro)
c.2476A>C (p.Thr826Pro)
2g.165386872A>GCA349036474SCN2Ac.4678A>G (p.Thr1560Ala)
c.*2997A>G (n.*2997A>G)
c.*2665A>G (n.*2665A>G)
c.*5201A>G (n.*5201A>G)
c.*2620A>G (n.*2620A>G)
c.4282A>G (p.Thr1428Ala)
n.8109A>G
c.4648A>G (p.Thr1550Ala)
c.3925A>G (p.Thr1309Ala)
c.2476A>G (p.Thr826Ala)
2g.165386872A>TCA349036475SCN2Ac.4678A>T (p.Thr1560Ser)
c.*2997A>T (n.*2997A>T)
c.*2665A>T (n.*2665A>T)
c.*5201A>T (n.*5201A>T)
c.*2620A>T (n.*2620A>T)
c.4282A>T (p.Thr1428Ser)
n.8109A>T
c.4648A>T (p.Thr1550Ser)
c.3925A>T (p.Thr1309Ser)
c.2476A>T (p.Thr826Ser)
2g.165386873C>ACA349036480SCN2Ac.4679C>A (p.Thr1560Lys)
c.*2998C>A (n.*2998C>A)
c.*2666C>A (n.*2666C>A)
c.*5202C>A (n.*5202C>A)
c.*2621C>A (n.*2621C>A)
c.4283C>A (p.Thr1428Lys)
n.8110C>A
c.4649C>A (p.Thr1550Lys)
c.3926C>A (p.Thr1309Lys)
c.2477C>A (p.Thr826Lys)
2g.165386873C>GCA349036477SCN2Ac.4679C>G (p.Thr1560Arg)
c.*2998C>G (n.*2998C>G)
c.*2666C>G (n.*2666C>G)
c.*5202C>G (n.*5202C>G)
c.*2621C>G (n.*2621C>G)
c.4283C>G (p.Thr1428Arg)
n.8110C>G
c.4649C>G (p.Thr1550Arg)
c.3926C>G (p.Thr1309Arg)
c.2477C>G (p.Thr826Arg)
2g.165386873C>TCA349036478SCN2Ac.4679C>T (p.Thr1560Ile)
c.*2998C>T (n.*2998C>T)
c.*2666C>T (n.*2666C>T)
c.*5202C>T (n.*5202C>T)
c.*2621C>T (n.*2621C>T)
c.4283C>T (p.Thr1428Ile)
n.8110C>T
c.4649C>T (p.Thr1550Ile)
c.3926C>T (p.Thr1309Ile)
c.2477C>T (p.Thr826Ile)
 gnomAD v4
2g.165386874A>CCA429972632SCN2Ac.4680A>C (p.Thr1560=)
c.*2999A>C (n.*2999A>C)
c.*2667A>C (n.*2667A>C)
c.*5203A>C (n.*5203A>C)
c.*2622A>C (n.*2622A>C)
c.4284A>C (p.Thr1428=)
n.8111A>C
c.4650A>C (p.Thr1550=)
c.3927A>C (p.Thr1309=)
c.2478A>C (p.Thr826=)
2g.165386874A>GCA429972633SCN2Ac.4680A>G (p.Thr1560=)
c.*2999A>G (n.*2999A>G)
c.*2667A>G (n.*2667A>G)
c.*5203A>G (n.*5203A>G)
c.*2622A>G (n.*2622A>G)
c.4284A>G (p.Thr1428=)
n.8111A>G
c.4650A>G (p.Thr1550=)
c.3927A>G (p.Thr1309=)
c.2478A>G (p.Thr826=)
2g.165386874A>TCA429972634SCN2Ac.4680A>T (p.Thr1560=)
c.*2999A>T (n.*2999A>T)
c.*2667A>T (n.*2667A>T)
c.*5203A>T (n.*5203A>T)
c.*2622A>T (n.*2622A>T)
c.4284A>T (p.Thr1428=)
n.8111A>T
c.4650A>T (p.Thr1550=)
c.3927A>T (p.Thr1309=)
c.2478A>T (p.Thr826=)
2g.165386875A>CCA349036482SCN2Ac.4681A>C (p.Asn1561His)
c.*3000A>C (n.*3000A>C)
c.*2668A>C (n.*2668A>C)
c.*5204A>C (n.*5204A>C)
c.*2623A>C (n.*2623A>C)
c.4285A>C (p.Asn1429His)
n.8112A>C
c.4651A>C (p.Asn1551His)
c.3928A>C (p.Asn1310His)
c.2479A>C (p.Asn827His)
2g.165386875A>GCA349036483SCN2Ac.4681A>G (p.Asn1561Asp)
c.*3000A>G (n.*3000A>G)
c.*2668A>G (n.*2668A>G)
c.*5204A>G (n.*5204A>G)
c.*2623A>G (n.*2623A>G)
c.4285A>G (p.Asn1429Asp)
n.8112A>G
c.4651A>G (p.Asn1551Asp)
c.3928A>G (p.Asn1310Asp)
c.2479A>G (p.Asn827Asp)
2g.165386875A>TCA349036484SCN2Ac.4681A>T (p.Asn1561Tyr)
c.*3000A>T (n.*3000A>T)
c.*2668A>T (n.*2668A>T)
c.*5204A>T (n.*5204A>T)
c.*2623A>T (n.*2623A>T)
c.4285A>T (p.Asn1429Tyr)
n.8112A>T
c.4651A>T (p.Asn1551Tyr)
c.3928A>T (p.Asn1310Tyr)
c.2479A>T (p.Asn827Tyr)
2g.165386876A>CCA349036486SCN2Ac.4682A>C (p.Asn1561Thr)
c.*3001A>C (n.*3001A>C)
c.*2669A>C (n.*2669A>C)
c.*5205A>C (n.*5205A>C)
c.*2624A>C (n.*2624A>C)
c.4286A>C (p.Asn1429Thr)
n.8113A>C
c.4652A>C (p.Asn1551Thr)
c.3929A>C (p.Asn1310Thr)
c.2480A>C (p.Asn827Thr)
2g.165386876A>GCA349036488SCN2Ac.4682A>G (p.Asn1561Ser)
c.*3001A>G (n.*3001A>G)
c.*2669A>G (n.*2669A>G)
c.*5205A>G (n.*5205A>G)
c.*2624A>G (n.*2624A>G)
c.4286A>G (p.Asn1429Ser)
n.8113A>G
c.4652A>G (p.Asn1551Ser)
c.3929A>G (p.Asn1310Ser)
c.2480A>G (p.Asn827Ser)
 gnomAD v4
2g.165386876A>TCA349036489SCN2Ac.4682A>T (p.Asn1561Ile)
c.*3001A>T (n.*3001A>T)
c.*2669A>T (n.*2669A>T)
c.*5205A>T (n.*5205A>T)
c.*2624A>T (n.*2624A>T)
c.4286A>T (p.Asn1429Ile)
n.8113A>T
c.4652A>T (p.Asn1551Ile)
c.3929A>T (p.Asn1310Ile)
c.2480A>T (p.Asn827Ile)
2g.165386877C>ACA349036491SCN2Ac.4683C>A (p.Asn1561Lys)
c.*3002C>A (n.*3002C>A)
c.*2670C>A (n.*2670C>A)
c.*5206C>A (n.*5206C>A)
c.*2625C>A (n.*2625C>A)
c.4287C>A (p.Asn1429Lys)
n.8114C>A
c.4653C>A (p.Asn1551Lys)
c.3930C>A (p.Asn1310Lys)
c.2481C>A (p.Asn827Lys)
 dbSNP
2g.165386877C=CA1304563785SCN2Ac.4683C= (p.Asn1561=)
c.*3002C= (n.*3002C=)
c.*2670C= (n.*2670C=)
c.*5206C= (n.*5206C=)
c.*2625C= (n.*2625C=)
c.4287C= (p.Asn1429=)
n.8114C=
c.4653C= (p.Asn1551=)
c.3930C= (p.Asn1310=)
c.2481C= (p.Asn827=)
2g.165386877C>GCA349036492SCN2Ac.4683C>G (p.Asn1561Lys)
c.*3002C>G (n.*3002C>G)
c.*2670C>G (n.*2670C>G)
c.*5206C>G (n.*5206C>G)
c.*2625C>G (n.*2625C>G)
c.4287C>G (p.Asn1429Lys)
n.8114C>G
c.4653C>G (p.Asn1551Lys)
c.3930C>G (p.Asn1310Lys)
c.2481C>G (p.Asn827Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165386877C>TCA429972635SCN2Ac.4683C>T (p.Asn1561=)
c.*3002C>T (n.*3002C>T)
c.*2670C>T (n.*2670C>T)
c.*5206C>T (n.*5206C>T)
c.*2625C>T (n.*2625C>T)
c.4287C>T (p.Asn1429=)
n.8114C>T
c.4653C>T (p.Asn1551=)
c.3930C>T (p.Asn1310=)
c.2481C>T (p.Asn827=)
 dbSNP gnomAD v4
2g.165386878A=CA1304563786SCN2Ac.4684A= (p.Ile1562=)
c.*3003A= (n.*3003A=)
c.*2671A= (n.*2671A=)
c.*5207A= (n.*5207A=)
c.*2626A= (n.*2626A=)
c.4288A= (p.Ile1430=)
n.8115A=
c.4654A= (p.Ile1552=)
c.3931A= (p.Ile1311=)
c.2482A= (p.Ile828=)
2g.165386878A>CCA349036494SCN2Ac.4684A>C (p.Ile1562Leu)
c.*3003A>C (n.*3003A>C)
c.*2671A>C (n.*2671A>C)
c.*5207A>C (n.*5207A>C)
c.*2626A>C (n.*2626A>C)
c.4288A>C (p.Ile1430Leu)
n.8115A>C
c.4654A>C (p.Ile1552Leu)
c.3931A>C (p.Ile1311Leu)
c.2482A>C (p.Ile828Leu)
2g.165386878A>GCA1940315SCN2Ac.4684A>G (p.Ile1562Val)
c.*3003A>G (n.*3003A>G)
c.*2671A>G (n.*2671A>G)
c.*5207A>G (n.*5207A>G)
c.*2626A>G (n.*2626A>G)
c.4288A>G (p.Ile1430Val)
n.8115A>G
c.4654A>G (p.Ile1552Val)
c.3931A>G (p.Ile1311Val)
c.2482A>G (p.Ile828Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386878A>TCA349036496SCN2Ac.4684A>T (p.Ile1562Phe)
c.*3003A>T (n.*3003A>T)
c.*2671A>T (n.*2671A>T)
c.*5207A>T (n.*5207A>T)
c.*2626A>T (n.*2626A>T)
c.4288A>T (p.Ile1430Phe)
n.8115A>T
c.4654A>T (p.Ile1552Phe)
c.3931A>T (p.Ile1311Phe)
c.2482A>T (p.Ile828Phe)
2g.165386879T>ACA349036500SCN2Ac.4685T>A (p.Ile1562Asn)
c.*3004T>A (n.*3004T>A)
c.*2672T>A (n.*2672T>A)
c.*5208T>A (n.*5208T>A)
c.*2627T>A (n.*2627T>A)
c.4289T>A (p.Ile1430Asn)
n.8116T>A
c.4655T>A (p.Ile1552Asn)
c.3932T>A (p.Ile1311Asn)
c.2483T>A (p.Ile828Asn)
2g.165386879T>CCA349036501SCN2Ac.4685T>C (p.Ile1562Thr)
c.*3004T>C (n.*3004T>C)
c.*2672T>C (n.*2672T>C)
c.*5208T>C (n.*5208T>C)
c.*2627T>C (n.*2627T>C)
c.4289T>C (p.Ile1430Thr)
n.8116T>C
c.4655T>C (p.Ile1552Thr)
c.3932T>C (p.Ile1311Thr)
c.2483T>C (p.Ile828Thr)
2g.165386879T>GCA349036498SCN2Ac.4685T>G (p.Ile1562Ser)
c.*3004T>G (n.*3004T>G)
c.*2672T>G (n.*2672T>G)
c.*5208T>G (n.*5208T>G)
c.*2627T>G (n.*2627T>G)
c.4289T>G (p.Ile1430Ser)
n.8116T>G
c.4655T>G (p.Ile1552Ser)
c.3932T>G (p.Ile1311Ser)
c.2483T>G (p.Ile828Ser)
2g.165386880T>ACA429972637SCN2Ac.4686T>A (p.Ile1562=)
c.*3005T>A (n.*3005T>A)
c.*2673T>A (n.*2673T>A)
c.*5209T>A (n.*5209T>A)
c.*2628T>A (n.*2628T>A)
c.4290T>A (p.Ile1430=)
n.8117T>A
c.4656T>A (p.Ile1552=)
c.3933T>A (p.Ile1311=)
c.2484T>A (p.Ile828=)
 ClinVar gnomAD v4
2g.165386880T>CCA429972636SCN2Ac.4686T>C (p.Ile1562=)
c.*3005T>C (n.*3005T>C)
c.*2673T>C (n.*2673T>C)
c.*5209T>C (n.*5209T>C)
c.*2628T>C (n.*2628T>C)
c.4290T>C (p.Ile1430=)
n.8117T>C
c.4656T>C (p.Ile1552=)
c.3933T>C (p.Ile1311=)
c.2484T>C (p.Ile828=)
 gnomAD v4
2g.165386880T>GCA349036502SCN2Ac.4686T>G (p.Ile1562Met)
c.*3005T>G (n.*3005T>G)
c.*2673T>G (n.*2673T>G)
c.*5209T>G (n.*5209T>G)
c.*2628T>G (n.*2628T>G)
c.4290T>G (p.Ile1430Met)
n.8117T>G
c.4656T>G (p.Ile1552Met)
c.3933T>G (p.Ile1311Met)
c.2484T>G (p.Ile828Met)
2g.165386881C>ACA349036504SCN2Ac.4687C>A (p.Leu1563Met)
c.*3006C>A (n.*3006C>A)
c.*2674C>A (n.*2674C>A)
c.*5210C>A (n.*5210C>A)
c.*2629C>A (n.*2629C>A)
c.4291C>A (p.Leu1431Met)
n.8118C>A
c.4657C>A (p.Leu1553Met)
c.3934C>A (p.Leu1312Met)
c.2485C>A (p.Leu829Met)
 COSMIC COSMIC
2g.165386881C=CA1304563787SCN2Ac.4687C= (p.Leu1563=)
c.*3006C= (n.*3006C=)
c.*2674C= (n.*2674C=)
c.*5210C= (n.*5210C=)
c.*2629C= (n.*2629C=)
c.4291C= (p.Leu1431=)
n.8118C=
c.4657C= (p.Leu1553=)
c.3934C= (p.Leu1312=)
c.2485C= (p.Leu829=)
2g.165386881C>GCA122769SCN2Ac.4687C>G (p.Leu1563Val)
c.*3006C>G (n.*3006C>G)
c.*2674C>G (n.*2674C>G)
c.*5210C>G (n.*5210C>G)
c.*2629C>G (n.*2629C>G)
c.4291C>G (p.Leu1431Val)
n.8118C>G
c.4657C>G (p.Leu1553Val)
c.3934C>G (p.Leu1312Val)
c.2485C>G (p.Leu829Val)
 ClinVar dbSNP
2g.165386881C>TCA429972638SCN2Ac.4687C>T (p.Leu1563=)
c.*3006C>T (n.*3006C>T)
c.*2674C>T (n.*2674C>T)
c.*5210C>T (n.*5210C>T)
c.*2629C>T (n.*2629C>T)
c.4291C>T (p.Leu1431=)
n.8118C>T
c.4657C>T (p.Leu1553=)
c.3934C>T (p.Leu1312=)
c.2485C>T (p.Leu829=)
2g.165386882T>ACA349036506SCN2Ac.4688T>A (p.Leu1563Gln)
c.*3007T>A (n.*3007T>A)
c.*2675T>A (n.*2675T>A)
c.*5211T>A (n.*5211T>A)
c.*2630T>A (n.*2630T>A)
c.4292T>A (p.Leu1431Gln)
n.8119T>A
c.4658T>A (p.Leu1553Gln)
c.3935T>A (p.Leu1312Gln)
c.2486T>A (p.Leu829Gln)
2g.165386882T>CCA349036508SCN2Ac.4688T>C (p.Leu1563Pro)
c.*3007T>C (n.*3007T>C)
c.*2675T>C (n.*2675T>C)
c.*5211T>C (n.*5211T>C)
c.*2630T>C (n.*2630T>C)
c.4292T>C (p.Leu1431Pro)
n.8119T>C
c.4658T>C (p.Leu1553Pro)
c.3935T>C (p.Leu1312Pro)
c.2486T>C (p.Leu829Pro)
2g.165386882T>GCA349036509SCN2Ac.4688T>G (p.Leu1563Arg)
c.*3007T>G (n.*3007T>G)
c.*2675T>G (n.*2675T>G)
c.*5211T>G (n.*5211T>G)
c.*2630T>G (n.*2630T>G)
c.4292T>G (p.Leu1431Arg)
n.8119T>G
c.4658T>G (p.Leu1553Arg)
c.3935T>G (p.Leu1312Arg)
c.2486T>G (p.Leu829Arg)
 ClinVar dbSNP
2g.165386882T=CA1304563788SCN2Ac.4688T= (p.Leu1563=)
c.*3007T= (n.*3007T=)
c.*2675T= (n.*2675T=)
c.*5211T= (n.*5211T=)
c.*2630T= (n.*2630T=)
c.4292T= (p.Leu1431=)
n.8119T=
c.4658T= (p.Leu1553=)
c.3935T= (p.Leu1312=)
c.2486T= (p.Leu829=)
2g.165386883G>ACA429972352SCN2Ac.4689G>A (p.Leu1563=)
c.*3008G>A (n.*3008G>A)
c.*2676G>A (n.*2676G>A)
c.*5212G>A (n.*5212G>A)
c.*2631G>A (n.*2631G>A)
c.4293G>A (p.Leu1431=)
n.8120G>A
c.4659G>A (p.Leu1553=)
c.3936G>A (p.Leu1312=)
c.2487G>A (p.Leu829=)
2g.165386883G>CCA429972354SCN2Ac.4689G>C (p.Leu1563=)
c.*3008G>C (n.*3008G>C)
c.*2676G>C (n.*2676G>C)
c.*5212G>C (n.*5212G>C)
c.*2631G>C (n.*2631G>C)
c.4293G>C (p.Leu1431=)
n.8120G>C
c.4659G>C (p.Leu1553=)
c.3936G>C (p.Leu1312=)
c.2487G>C (p.Leu829=)
2g.165386883G>TCA429972355SCN2Ac.4689G>T (p.Leu1563=)
c.*3008G>T (n.*3008G>T)
c.*2676G>T (n.*2676G>T)
c.*5212G>T (n.*5212G>T)
c.*2631G>T (n.*2631G>T)
c.4293G>T (p.Leu1431=)
n.8120G>T
c.4659G>T (p.Leu1553=)
c.3936G>T (p.Leu1312=)
c.2487G>T (p.Leu829=)
 gnomAD v4
2g.165386884T>ACA349036511SCN2Ac.4690T>A (p.Tyr1564Asn)
c.*3009T>A (n.*3009T>A)
c.*2677T>A (n.*2677T>A)
c.*5213T>A (n.*5213T>A)
c.*2632T>A (n.*2632T>A)
c.4294T>A (p.Tyr1432Asn)
n.8121T>A
c.4660T>A (p.Tyr1554Asn)
c.3937T>A (p.Tyr1313Asn)
c.2488T>A (p.Tyr830Asn)
2g.165386884T>CCA349036513SCN2Ac.4690T>C (p.Tyr1564His)
c.*3009T>C (n.*3009T>C)
c.*2677T>C (n.*2677T>C)
c.*5213T>C (n.*5213T>C)
c.*2632T>C (n.*2632T>C)
c.4294T>C (p.Tyr1432His)
n.8121T>C
c.4660T>C (p.Tyr1554His)
c.3937T>C (p.Tyr1313His)
c.2488T>C (p.Tyr830His)
2g.165386884T>GCA349036514SCN2Ac.4690T>G (p.Tyr1564Asp)
c.*3009T>G (n.*3009T>G)
c.*2677T>G (n.*2677T>G)
c.*5213T>G (n.*5213T>G)
c.*2632T>G (n.*2632T>G)
c.4294T>G (p.Tyr1432Asp)
n.8121T>G
c.4660T>G (p.Tyr1554Asp)
c.3937T>G (p.Tyr1313Asp)
c.2488T>G (p.Tyr830Asp)
2g.165386884_165386886delinsTACCA1304563789SCN2Ac.4690_4692delinsTAC (p.Tyr1564=)
c.*3009_*3011delinsTAC (n.*3009_*3011delinsTAC)
c.*2677_*2679delinsTAC (n.*2677_*2679delinsTAC)
c.*5213_*5215delinsTAC (n.*5213_*5215delinsTAC)
c.*2632_*2634delinsTAC (n.*2632_*2634delinsTAC)
c.4294_4296delinsTAC (p.Tyr1432=)
n.8121_8123delinsTAC
c.4660_4662delinsTAC (p.Tyr1554=)
c.3937_3939delinsTAC (p.Tyr1313=)
c.2488_2490delinsTAC (p.Tyr830=)
2g.165386885A=CA1304563790SCN2Ac.4691A= (p.Tyr1564=)
c.*3010A= (n.*3010A=)
c.*2678A= (n.*2678A=)
c.*5214A= (n.*5214A=)
c.*2633A= (n.*2633A=)
c.4295A= (p.Tyr1432=)
n.8122A=
c.4661A= (p.Tyr1554=)
c.3938A= (p.Tyr1313=)
c.2489A= (p.Tyr830=)
2g.165386885A>CCA349036516SCN2Ac.4691A>C (p.Tyr1564Ser)
c.*3010A>C (n.*3010A>C)
c.*2678A>C (n.*2678A>C)
c.*5214A>C (n.*5214A>C)
c.*2633A>C (n.*2633A>C)
c.4295A>C (p.Tyr1432Ser)
n.8122A>C
c.4661A>C (p.Tyr1554Ser)
c.3938A>C (p.Tyr1313Ser)
c.2489A>C (p.Tyr830Ser)
2g.165386885A>GCA349036517SCN2Ac.4691A>G (p.Tyr1564Cys)
c.*3010A>G (n.*3010A>G)
c.*2678A>G (n.*2678A>G)
c.*5214A>G (n.*5214A>G)
c.*2633A>G (n.*2633A>G)
c.4295A>G (p.Tyr1432Cys)
n.8122A>G
c.4661A>G (p.Tyr1554Cys)
c.3938A>G (p.Tyr1313Cys)
c.2489A>G (p.Tyr830Cys)
 dbSNP
2g.165386885A>TCA349036518SCN2Ac.4691A>T (p.Tyr1564Phe)
c.*3010A>T (n.*3010A>T)
c.*2678A>T (n.*2678A>T)
c.*5214A>T (n.*5214A>T)
c.*2633A>T (n.*2633A>T)
c.4295A>T (p.Tyr1432Phe)
n.8122A>T
c.4661A>T (p.Tyr1554Phe)
c.3938A>T (p.Tyr1313Phe)
c.2489A>T (p.Tyr830Phe)
2g.165386885_165386886delCA658795941SCN2Ac.4691_4692del (p.Tyr1564LeufsTer3)
c.*3010_*3011del (n.*3010_*3011del)
c.*2678_*2679del (n.*2678_*2679del)
c.*5214_*5215del (n.*5214_*5215del)
c.*2633_*2634del (n.*2633_*2634del)
c.4295_4296del (p.Tyr1432LeufsTer3)
n.8122_8123del
c.4661_4662del (p.Tyr1554LeufsTer3)
c.3938_3939del (p.Tyr1313LeufsTer3)
c.2489_2490del (p.Tyr830LeufsTer3)
 ClinVar dbSNP
2g.165386886C>ACA349036520SCN2Ac.4692C>A (p.Tyr1564Ter)
c.*3011C>A (n.*3011C>A)
c.*2679C>A (n.*2679C>A)
c.*5215C>A (n.*5215C>A)
c.*2634C>A (n.*2634C>A)
c.4296C>A (p.Tyr1432Ter)
n.8123C>A
c.4662C>A (p.Tyr1554Ter)
c.3939C>A (p.Tyr1313Ter)
c.2490C>A (p.Tyr830Ter)
2g.165386886C>GCA349036522SCN2Ac.4692C>G (p.Tyr1564Ter)
c.*3011C>G (n.*3011C>G)
c.*2679C>G (n.*2679C>G)
c.*5215C>G (n.*5215C>G)
c.*2634C>G (n.*2634C>G)
c.4296C>G (p.Tyr1432Ter)
n.8123C>G
c.4662C>G (p.Tyr1554Ter)
c.3939C>G (p.Tyr1313Ter)
c.2490C>G (p.Tyr830Ter)
2g.165386886C>TCA429972366SCN2Ac.4692C>T (p.Tyr1564=)
c.*3011C>T (n.*3011C>T)
c.*2679C>T (n.*2679C>T)
c.*5215C>T (n.*5215C>T)
c.*2634C>T (n.*2634C>T)
c.4296C>T (p.Tyr1432=)
n.8123C>T
c.4662C>T (p.Tyr1554=)
c.3939C>T (p.Tyr1313=)
c.2490C>T (p.Tyr830=)
2g.165386887T>ACA349036526SCN2Ac.4693T>A (p.Trp1565Arg)
c.*3012T>A (n.*3012T>A)
c.*2680T>A (n.*2680T>A)
c.*5216T>A (n.*5216T>A)
c.*2635T>A (n.*2635T>A)
c.4297T>A (p.Trp1433Arg)
n.8124T>A
c.4663T>A (p.Trp1555Arg)
c.3940T>A (p.Trp1314Arg)
c.2491T>A (p.Trp831Arg)
 ClinVar dbSNP gnomAD v4
2g.165386887T>CCA349036523SCN2Ac.4693T>C (p.Trp1565Arg)
c.*3012T>C (n.*3012T>C)
c.*2680T>C (n.*2680T>C)
c.*5216T>C (n.*5216T>C)
c.*2635T>C (n.*2635T>C)
c.4297T>C (p.Trp1433Arg)
n.8124T>C
c.4663T>C (p.Trp1555Arg)
c.3940T>C (p.Trp1314Arg)
c.2491T>C (p.Trp831Arg)
 gnomAD v4
2g.165386887T>GCA349036524SCN2Ac.4693T>G (p.Trp1565Gly)
c.*3012T>G (n.*3012T>G)
c.*2680T>G (n.*2680T>G)
c.*5216T>G (n.*5216T>G)
c.*2635T>G (n.*2635T>G)
c.4297T>G (p.Trp1433Gly)
n.8124T>G
c.4663T>G (p.Trp1555Gly)
c.3940T>G (p.Trp1314Gly)
c.2491T>G (p.Trp831Gly)
2g.165386887T=CA1304563791SCN2Ac.4693T= (p.Trp1565=)
c.*3012T= (n.*3012T=)
c.*2680T= (n.*2680T=)
c.*5216T= (n.*5216T=)
c.*2635T= (n.*2635T=)
c.4297T= (p.Trp1433=)
n.8124T=
c.4663T= (p.Trp1555=)
c.3940T= (p.Trp1314=)
c.2491T= (p.Trp831=)
2g.165386888G>ACA349036528SCN2Ac.4694G>A (p.Trp1565Ter)
c.*3013G>A (n.*3013G>A)
c.*2681G>A (n.*2681G>A)
c.*5217G>A (n.*5217G>A)
c.*2636G>A (n.*2636G>A)
c.4298G>A (p.Trp1433Ter)
n.8125G>A
c.4664G>A (p.Trp1555Ter)
c.3941G>A (p.Trp1314Ter)
c.2492G>A (p.Trp831Ter)
 dbSNP
2g.165386888G>CCA349036530SCN2Ac.4694G>C (p.Trp1565Ser)
c.*3013G>C (n.*3013G>C)
c.*2681G>C (n.*2681G>C)
c.*5217G>C (n.*5217G>C)
c.*2636G>C (n.*2636G>C)
c.4298G>C (p.Trp1433Ser)
n.8125G>C
c.4664G>C (p.Trp1555Ser)
c.3941G>C (p.Trp1314Ser)
c.2492G>C (p.Trp831Ser)
2g.165386888G=CA1304563792SCN2Ac.4694G= (p.Trp1565=)
c.*3013G= (n.*3013G=)
c.*2681G= (n.*2681G=)
c.*5217G= (n.*5217G=)
c.*2636G= (n.*2636G=)
c.4298G= (p.Trp1433=)
n.8125G=
c.4664G= (p.Trp1555=)
c.3941G= (p.Trp1314=)
c.2492G= (p.Trp831=)
2g.165386888G>TCA349036531SCN2Ac.4694G>T (p.Trp1565Leu)
c.*3013G>T (n.*3013G>T)
c.*2681G>T (n.*2681G>T)
c.*5217G>T (n.*5217G>T)
c.*2636G>T (n.*2636G>T)
c.4298G>T (p.Trp1433Leu)
n.8125G>T
c.4664G>T (p.Trp1555Leu)
c.3941G>T (p.Trp1314Leu)
c.2492G>T (p.Trp831Leu)
 COSMIC COSMIC
2g.165386889G>ACA349036532SCN2Ac.4695G>A (p.Trp1565Ter)
c.*3014G>A (n.*3014G>A)
c.*2682G>A (n.*2682G>A)
c.*5218G>A (n.*5218G>A)
c.*2637G>A (n.*2637G>A)
c.4299G>A (p.Trp1433Ter)
n.8126G>A
c.4665G>A (p.Trp1555Ter)
c.3942G>A (p.Trp1314Ter)
c.2493G>A (p.Trp831Ter)
 dbSNP
2g.165386889G>CCA349036534SCN2Ac.4695G>C (p.Trp1565Cys)
c.*3014G>C (n.*3014G>C)
c.*2682G>C (n.*2682G>C)
c.*5218G>C (n.*5218G>C)
c.*2637G>C (n.*2637G>C)
c.4299G>C (p.Trp1433Cys)
n.8126G>C
c.4665G>C (p.Trp1555Cys)
c.3942G>C (p.Trp1314Cys)
c.2493G>C (p.Trp831Cys)
2g.165386889G=CA1304563793SCN2Ac.4695G= (p.Trp1565=)
c.*3014G= (n.*3014G=)
c.*2682G= (n.*2682G=)
c.*5218G= (n.*5218G=)
c.*2637G= (n.*2637G=)
c.4299G= (p.Trp1433=)
n.8126G=
c.4665G= (p.Trp1555=)
c.3942G= (p.Trp1314=)
c.2493G= (p.Trp831=)
2g.165386889G>TCA349036535SCN2Ac.4695G>T (p.Trp1565Cys)
c.*3014G>T (n.*3014G>T)
c.*2682G>T (n.*2682G>T)
c.*5218G>T (n.*5218G>T)
c.*2637G>T (n.*2637G>T)
c.4299G>T (p.Trp1433Cys)
n.8126G>T
c.4665G>T (p.Trp1555Cys)
c.3942G>T (p.Trp1314Cys)
c.2493G>T (p.Trp831Cys)
2g.165386890A=CA1304563794SCN2Ac.4696A= (p.Ile1566=)
c.*3015A= (n.*3015A=)
c.*2683A= (n.*2683A=)
c.*5219A= (n.*5219A=)
c.*2638A= (n.*2638A=)
c.4300A= (p.Ile1434=)
n.8127A=
c.4666A= (p.Ile1556=)
c.3943A= (p.Ile1315=)
c.2494A= (p.Ile832=)
2g.165386890A>CCA349036537SCN2Ac.4696A>C (p.Ile1566Leu)
c.*3015A>C (n.*3015A>C)
c.*2683A>C (n.*2683A>C)
c.*5219A>C (n.*5219A>C)
c.*2638A>C (n.*2638A>C)
c.4300A>C (p.Ile1434Leu)
n.8127A>C
c.4666A>C (p.Ile1556Leu)
c.3943A>C (p.Ile1315Leu)
c.2494A>C (p.Ile832Leu)
2g.165386890A>GCA349036539SCN2Ac.4696A>G (p.Ile1566Val)
c.*3015A>G (n.*3015A>G)
c.*2683A>G (n.*2683A>G)
c.*5219A>G (n.*5219A>G)
c.*2638A>G (n.*2638A>G)
c.4300A>G (p.Ile1434Val)
n.8127A>G
c.4666A>G (p.Ile1556Val)
c.3943A>G (p.Ile1315Val)
c.2494A>G (p.Ile832Val)
2g.165386890A>TCA349036540SCN2Ac.4696A>T (p.Ile1566Phe)
c.*3015A>T (n.*3015A>T)
c.*2683A>T (n.*2683A>T)
c.*5219A>T (n.*5219A>T)
c.*2638A>T (n.*2638A>T)
c.4300A>T (p.Ile1434Phe)
n.8127A>T
c.4666A>T (p.Ile1556Phe)
c.3943A>T (p.Ile1315Phe)
c.2494A>T (p.Ile832Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.165386891T>ACA349036542SCN2Ac.4697T>A (p.Ile1566Asn)
c.*3016T>A (n.*3016T>A)
c.*2684T>A (n.*2684T>A)
c.*5220T>A (n.*5220T>A)
c.*2639T>A (n.*2639T>A)
c.4301T>A (p.Ile1434Asn)
n.8128T>A
c.4667T>A (p.Ile1556Asn)
c.3944T>A (p.Ile1315Asn)
c.2495T>A (p.Ile832Asn)
2g.165386891T>CCA349036544SCN2Ac.4697T>C (p.Ile1566Thr)
c.*3016T>C (n.*3016T>C)
c.*2684T>C (n.*2684T>C)
c.*5220T>C (n.*5220T>C)
c.*2639T>C (n.*2639T>C)
c.4301T>C (p.Ile1434Thr)
n.8128T>C
c.4667T>C (p.Ile1556Thr)
c.3944T>C (p.Ile1315Thr)
c.2495T>C (p.Ile832Thr)
2g.165386891T>GCA349036545SCN2Ac.4697T>G (p.Ile1566Ser)
c.*3016T>G (n.*3016T>G)
c.*2684T>G (n.*2684T>G)
c.*5220T>G (n.*5220T>G)
c.*2639T>G (n.*2639T>G)
c.4301T>G (p.Ile1434Ser)
n.8128T>G
c.4667T>G (p.Ile1556Ser)
c.3944T>G (p.Ile1315Ser)
c.2495T>G (p.Ile832Ser)
2g.165386892T>ACA429972380SCN2Ac.4698T>A (p.Ile1566=)
c.*3017T>A (n.*3017T>A)
c.*2685T>A (n.*2685T>A)
c.*5221T>A (n.*5221T>A)
c.*2640T>A (n.*2640T>A)
c.4302T>A (p.Ile1434=)
n.8129T>A
c.4668T>A (p.Ile1556=)
c.3945T>A (p.Ile1315=)
c.2496T>A (p.Ile832=)
2g.165386892T>CCA429972377SCN2Ac.4698T>C (p.Ile1566=)
c.*3017T>C (n.*3017T>C)
c.*2685T>C (n.*2685T>C)
c.*5221T>C (n.*5221T>C)
c.*2640T>C (n.*2640T>C)
c.4302T>C (p.Ile1434=)
n.8129T>C
c.4668T>C (p.Ile1556=)
c.3945T>C (p.Ile1315=)
c.2496T>C (p.Ile832=)
2g.165386892T>GCA349036547SCN2Ac.4698T>G (p.Ile1566Met)
c.*3017T>G (n.*3017T>G)
c.*2685T>G (n.*2685T>G)
c.*5221T>G (n.*5221T>G)
c.*2640T>G (n.*2640T>G)
c.4302T>G (p.Ile1434Met)
n.8129T>G
c.4668T>G (p.Ile1556Met)
c.3945T>G (p.Ile1315Met)
c.2496T>G (p.Ile832Met)
2g.165386893A>CCA349036552SCN2Ac.4699A>C (p.Asn1567His)
c.*3018A>C (n.*3018A>C)
c.*2686A>C (n.*2686A>C)
c.*5222A>C (n.*5222A>C)
c.*2641A>C (n.*2641A>C)
c.4303A>C (p.Asn1435His)
n.8130A>C
c.4669A>C (p.Asn1557His)
c.3946A>C (p.Asn1316His)
c.2497A>C (p.Asn833His)
2g.165386893A>GCA349036549SCN2Ac.4699A>G (p.Asn1567Asp)
c.*3018A>G (n.*3018A>G)
c.*2686A>G (n.*2686A>G)
c.*5222A>G (n.*5222A>G)
c.*2641A>G (n.*2641A>G)
c.4303A>G (p.Asn1435Asp)
n.8130A>G
c.4669A>G (p.Asn1557Asp)
c.3946A>G (p.Asn1316Asp)
c.2497A>G (p.Asn833Asp)
 COSMIC COSMIC
2g.165386893A>TCA349036550SCN2Ac.4699A>T (p.Asn1567Tyr)
c.*3018A>T (n.*3018A>T)
c.*2686A>T (n.*2686A>T)
c.*5222A>T (n.*5222A>T)
c.*2641A>T (n.*2641A>T)
c.4303A>T (p.Asn1435Tyr)
n.8130A>T
c.4669A>T (p.Asn1557Tyr)
c.3946A>T (p.Asn1316Tyr)
c.2497A>T (p.Asn833Tyr)
2g.165386894A>CCA349036553SCN2Ac.4700A>C (p.Asn1567Thr)
c.*3019A>C (n.*3019A>C)
c.*2687A>C (n.*2687A>C)
c.*5223A>C (n.*5223A>C)
c.*2642A>C (n.*2642A>C)
c.4304A>C (p.Asn1435Thr)
n.8131A>C
c.4670A>C (p.Asn1557Thr)
c.3947A>C (p.Asn1316Thr)
c.2498A>C (p.Asn833Thr)
2g.165386894A>GCA349036554SCN2Ac.4700A>G (p.Asn1567Ser)
c.*3019A>G (n.*3019A>G)
c.*2687A>G (n.*2687A>G)
c.*5223A>G (n.*5223A>G)
c.*2642A>G (n.*2642A>G)
c.4304A>G (p.Asn1435Ser)
n.8131A>G
c.4670A>G (p.Asn1557Ser)
c.3947A>G (p.Asn1316Ser)
c.2498A>G (p.Asn833Ser)
2g.165386894A>TCA349036556SCN2Ac.4700A>T (p.Asn1567Ile)
c.*3019A>T (n.*3019A>T)
c.*2687A>T (n.*2687A>T)
c.*5223A>T (n.*5223A>T)
c.*2642A>T (n.*2642A>T)
c.4304A>T (p.Asn1435Ile)
n.8131A>T
c.4670A>T (p.Asn1557Ile)
c.3947A>T (p.Asn1316Ile)
c.2498A>T (p.Asn833Ile)
2g.165386895T>ACA318000SCN2Ac.4701T>A (p.Asn1567Lys)
c.*3020T>A (n.*3020T>A)
c.*2688T>A (n.*2688T>A)
c.*5224T>A (n.*5224T>A)
c.*2643T>A (n.*2643T>A)
c.4305T>A (p.Asn1435Lys)
n.8132T>A
c.4671T>A (p.Asn1557Lys)
c.3948T>A (p.Asn1316Lys)
c.2499T>A (p.Asn833Lys)
 ClinVar dbSNP
2g.165386895T>CCA429972387SCN2Ac.4701T>C (p.Asn1567=)
c.*3020T>C (n.*3020T>C)
c.*2688T>C (n.*2688T>C)
c.*5224T>C (n.*5224T>C)
c.*2643T>C (n.*2643T>C)
c.4305T>C (p.Asn1435=)
n.8132T>C
c.4671T>C (p.Asn1557=)
c.3948T>C (p.Asn1316=)
c.2499T>C (p.Asn833=)
 gnomAD v4
2g.165386895T>GCA349036558SCN2Ac.4701T>G (p.Asn1567Lys)
c.*3020T>G (n.*3020T>G)
c.*2688T>G (n.*2688T>G)
c.*5224T>G (n.*5224T>G)
c.*2643T>G (n.*2643T>G)
c.4305T>G (p.Asn1435Lys)
n.8132T>G
c.4671T>G (p.Asn1557Lys)
c.3948T>G (p.Asn1316Lys)
c.2499T>G (p.Asn833Lys)
2g.165386895T=CA1304563795SCN2Ac.4701T= (p.Asn1567=)
c.*3020T= (n.*3020T=)
c.*2688T= (n.*2688T=)
c.*5224T= (n.*5224T=)
c.*2643T= (n.*2643T=)
c.4305T= (p.Asn1435=)
n.8132T=
c.4671T= (p.Asn1557=)
c.3948T= (p.Asn1316=)
c.2499T= (p.Asn833=)
2g.165386896C>ACA349036559SCN2Ac.4702C>A (p.Leu1568Met)
c.*3021C>A (n.*3021C>A)
c.*2689C>A (n.*2689C>A)
c.*5225C>A (n.*5225C>A)
c.*2644C>A (n.*2644C>A)
c.4306C>A (p.Leu1436Met)
n.8133C>A
c.4672C>A (p.Leu1558Met)
c.3949C>A (p.Leu1317Met)
c.2500C>A (p.Leu834Met)
 gnomAD v4
2g.165386896C=CA1304563796SCN2Ac.4702C= (p.Leu1568=)
c.*3021C= (n.*3021C=)
c.*2689C= (n.*2689C=)
c.*5225C= (n.*5225C=)
c.*2644C= (n.*2644C=)
c.4306C= (p.Leu1436=)
n.8133C=
c.4672C= (p.Leu1558=)
c.3949C= (p.Leu1317=)
c.2500C= (p.Leu834=)
2g.165386896C>GCA349036561SCN2Ac.4702C>G (p.Leu1568Val)
c.*3021C>G (n.*3021C>G)
c.*2689C>G (n.*2689C>G)
c.*5225C>G (n.*5225C>G)
c.*2644C>G (n.*2644C>G)
c.4306C>G (p.Leu1436Val)
n.8133C>G
c.4672C>G (p.Leu1558Val)
c.3949C>G (p.Leu1317Val)
c.2500C>G (p.Leu834Val)
 dbSNP gnomAD v2 gnomAD v4
2g.165386896C>TCA429972389SCN2Ac.4702C>T (p.Leu1568=)
c.*3021C>T (n.*3021C>T)
c.*2689C>T (n.*2689C>T)
c.*5225C>T (n.*5225C>T)
c.*2644C>T (n.*2644C>T)
c.4306C>T (p.Leu1436=)
n.8133C>T
c.4672C>T (p.Leu1558=)
c.3949C>T (p.Leu1317=)
c.2500C>T (p.Leu834=)
 dbSNP
2g.165386897T>ACA349036563SCN2Ac.4703T>A (p.Leu1568Gln)
c.*3022T>A (n.*3022T>A)
c.*2690T>A (n.*2690T>A)
c.*5226T>A (n.*5226T>A)
c.*2645T>A (n.*2645T>A)
c.4307T>A (p.Leu1436Gln)
n.8134T>A
c.4673T>A (p.Leu1558Gln)
c.3950T>A (p.Leu1317Gln)
c.2501T>A (p.Leu834Gln)
2g.165386897T>CCA349036564SCN2Ac.4703T>C (p.Leu1568Pro)
c.*3022T>C (n.*3022T>C)
c.*2690T>C (n.*2690T>C)
c.*5226T>C (n.*5226T>C)
c.*2645T>C (n.*2645T>C)
c.4307T>C (p.Leu1436Pro)
n.8134T>C
c.4673T>C (p.Leu1558Pro)
c.3950T>C (p.Leu1317Pro)
c.2501T>C (p.Leu834Pro)
2g.165386897T>GCA349036566SCN2Ac.4703T>G (p.Leu1568Arg)
c.*3022T>G (n.*3022T>G)
c.*2690T>G (n.*2690T>G)
c.*5226T>G (n.*5226T>G)
c.*2645T>G (n.*2645T>G)
c.4307T>G (p.Leu1436Arg)
n.8134T>G
c.4673T>G (p.Leu1558Arg)
c.3950T>G (p.Leu1317Arg)
c.2501T>G (p.Leu834Arg)
2g.165386898G>ACA429972390SCN2Ac.4704G>A (p.Leu1568=)
c.*3023G>A (n.*3023G>A)
c.*2691G>A (n.*2691G>A)
c.*5227G>A (n.*5227G>A)
c.*2646G>A (n.*2646G>A)
c.4308G>A (p.Leu1436=)
n.8135G>A
c.4674G>A (p.Leu1558=)
c.3951G>A (p.Leu1317=)
c.2502G>A (p.Leu834=)
2g.165386898G>CCA429972391SCN2Ac.4704G>C (p.Leu1568=)
c.*3023G>C (n.*3023G>C)
c.*2691G>C (n.*2691G>C)
c.*5227G>C (n.*5227G>C)
c.*2646G>C (n.*2646G>C)
c.4308G>C (p.Leu1436=)
n.8135G>C
c.4674G>C (p.Leu1558=)
c.3951G>C (p.Leu1317=)
c.2502G>C (p.Leu834=)
2g.165386898G>TCA429972392SCN2Ac.4704G>T (p.Leu1568=)
c.*3023G>T (n.*3023G>T)
c.*2691G>T (n.*2691G>T)
c.*5227G>T (n.*5227G>T)
c.*2646G>T (n.*2646G>T)
c.4308G>T (p.Leu1436=)
n.8135G>T
c.4674G>T (p.Leu1558=)
c.3951G>T (p.Leu1317=)
c.2502G>T (p.Leu834=)
2g.165386899G>ACA349036569SCN2Ac.4705G>A (p.Val1569Met)
c.*3024G>A (n.*3024G>A)
c.*2692G>A (n.*2692G>A)
c.*5228G>A (n.*5228G>A)
c.*2647G>A (n.*2647G>A)
c.4309G>A (p.Val1437Met)
n.8136G>A
c.4675G>A (p.Val1559Met)
c.3952G>A (p.Val1318Met)
c.2503G>A (p.Val835Met)
 ClinVar
2g.165386899G>CCA349036570SCN2Ac.4705G>C (p.Val1569Leu)
c.*3024G>C (n.*3024G>C)
c.*2692G>C (n.*2692G>C)
c.*5228G>C (n.*5228G>C)
c.*2647G>C (n.*2647G>C)
c.4309G>C (p.Val1437Leu)
n.8136G>C
c.4675G>C (p.Val1559Leu)
c.3952G>C (p.Val1318Leu)
c.2503G>C (p.Val835Leu)
 gnomAD v4
2g.165386899G>TCA349036568SCN2Ac.4705G>T (p.Val1569Leu)
c.*3024G>T (n.*3024G>T)
c.*2692G>T (n.*2692G>T)
c.*5228G>T (n.*5228G>T)
c.*2647G>T (n.*2647G>T)
c.4309G>T (p.Val1437Leu)
n.8136G>T
c.4675G>T (p.Val1559Leu)
c.3952G>T (p.Val1318Leu)
c.2503G>T (p.Val835Leu)
 gnomAD v4
2g.165386900T>ACA349036572SCN2Ac.4706T>A (p.Val1569Glu)
c.*3025T>A (n.*3025T>A)
c.*2693T>A (n.*2693T>A)
c.*5229T>A (n.*5229T>A)
c.*2648T>A (n.*2648T>A)
c.4310T>A (p.Val1437Glu)
n.8137T>A
c.4676T>A (p.Val1559Glu)
c.3953T>A (p.Val1318Glu)
c.2504T>A (p.Val835Glu)
 dbSNP
2g.165386900T>CCA349036573SCN2Ac.4706T>C (p.Val1569Ala)
c.*3025T>C (n.*3025T>C)
c.*2693T>C (n.*2693T>C)
c.*5229T>C (n.*5229T>C)
c.*2648T>C (n.*2648T>C)
c.4310T>C (p.Val1437Ala)
n.8137T>C
c.4676T>C (p.Val1559Ala)
c.3953T>C (p.Val1318Ala)
c.2504T>C (p.Val835Ala)
2g.165386900T>GCA349036575SCN2Ac.4706T>G (p.Val1569Gly)
c.*3025T>G (n.*3025T>G)
c.*2693T>G (n.*2693T>G)
c.*5229T>G (n.*5229T>G)
c.*2648T>G (n.*2648T>G)
c.4310T>G (p.Val1437Gly)
n.8137T>G
c.4676T>G (p.Val1559Gly)
c.3953T>G (p.Val1318Gly)
c.2504T>G (p.Val835Gly)
2g.165386900T=CA1304563797SCN2Ac.4706T= (p.Val1569=)
c.*3025T= (n.*3025T=)
c.*2693T= (n.*2693T=)
c.*5229T= (n.*5229T=)
c.*2648T= (n.*2648T=)
c.4310T= (p.Val1437=)
n.8137T=
c.4676T= (p.Val1559=)
c.3953T= (p.Val1318=)
c.2504T= (p.Val835=)
2g.165386901G>ACA429972395SCN2Ac.4707G>A (p.Val1569=)
c.*3026G>A (n.*3026G>A)
c.*2694G>A (n.*2694G>A)
c.*5230G>A (n.*5230G>A)
c.*2649G>A (n.*2649G>A)
c.4311G>A (p.Val1437=)
n.8138G>A
c.4677G>A (p.Val1559=)
c.3954G>A (p.Val1318=)
c.2505G>A (p.Val835=)
2g.165386901G>CCA429972396SCN2Ac.4707G>C (p.Val1569=)
c.*3026G>C (n.*3026G>C)
c.*2694G>C (n.*2694G>C)
c.*5230G>C (n.*5230G>C)
c.*2649G>C (n.*2649G>C)
c.4311G>C (p.Val1437=)
n.8138G>C
c.4677G>C (p.Val1559=)
c.3954G>C (p.Val1318=)
c.2505G>C (p.Val835=)
2g.165386901G>TCA429972397SCN2Ac.4707G>T (p.Val1569=)
c.*3026G>T (n.*3026G>T)
c.*2694G>T (n.*2694G>T)
c.*5230G>T (n.*5230G>T)
c.*2649G>T (n.*2649G>T)
c.4311G>T (p.Val1437=)
n.8138G>T
c.4677G>T (p.Val1559=)
c.3954G>T (p.Val1318=)
c.2505G>T (p.Val835=)
2g.165386902T>ACA349036576SCN2Ac.4708T>A (p.Phe1570Ile)
c.*3027T>A (n.*3027T>A)
c.*2695T>A (n.*2695T>A)
c.*5231T>A (n.*5231T>A)
c.*2650T>A (n.*2650T>A)
c.4312T>A (p.Phe1438Ile)
n.8139T>A
c.4678T>A (p.Phe1560Ile)
c.3955T>A (p.Phe1319Ile)
c.2506T>A (p.Phe836Ile)
2g.165386902T>CCA349036578SCN2Ac.4708T>C (p.Phe1570Leu)
c.*3027T>C (n.*3027T>C)
c.*2695T>C (n.*2695T>C)
c.*5231T>C (n.*5231T>C)
c.*2650T>C (n.*2650T>C)
c.4312T>C (p.Phe1438Leu)
n.8139T>C
c.4678T>C (p.Phe1560Leu)
c.3955T>C (p.Phe1319Leu)
c.2506T>C (p.Phe836Leu)
2g.165386902T>GCA349036579SCN2Ac.4708T>G (p.Phe1570Val)
c.*3027T>G (n.*3027T>G)
c.*2695T>G (n.*2695T>G)
c.*5231T>G (n.*5231T>G)
c.*2650T>G (n.*2650T>G)
c.4312T>G (p.Phe1438Val)
n.8139T>G
c.4678T>G (p.Phe1560Val)
c.3955T>G (p.Phe1319Val)
c.2506T>G (p.Phe836Val)
2g.165386903T>ACA349036581SCN2Ac.4709T>A (p.Phe1570Tyr)
c.*3028T>A (n.*3028T>A)
c.*2696T>A (n.*2696T>A)
c.*5232T>A (n.*5232T>A)
c.*2651T>A (n.*2651T>A)
c.4313T>A (p.Phe1438Tyr)
n.8140T>A
c.4679T>A (p.Phe1560Tyr)
c.3956T>A (p.Phe1319Tyr)
c.2507T>A (p.Phe836Tyr)
2g.165386903T>CCA349036584SCN2Ac.4709T>C (p.Phe1570Ser)
c.*3028T>C (n.*3028T>C)
c.*2696T>C (n.*2696T>C)
c.*5232T>C (n.*5232T>C)
c.*2651T>C (n.*2651T>C)
c.4313T>C (p.Phe1438Ser)
n.8140T>C
c.4679T>C (p.Phe1560Ser)
c.3956T>C (p.Phe1319Ser)
c.2507T>C (p.Phe836Ser)
2g.165386903T>GCA349036582SCN2Ac.4709T>G (p.Phe1570Cys)
c.*3028T>G (n.*3028T>G)
c.*2696T>G (n.*2696T>G)
c.*5232T>G (n.*5232T>G)
c.*2651T>G (n.*2651T>G)
c.4313T>G (p.Phe1438Cys)
n.8140T>G
c.4679T>G (p.Phe1560Cys)
c.3956T>G (p.Phe1319Cys)
c.2507T>G (p.Phe836Cys)
2g.165386904T>ACA349036585SCN2Ac.4710T>A (p.Phe1570Leu)
c.*3029T>A (n.*3029T>A)
c.*2697T>A (n.*2697T>A)
c.*5233T>A (n.*5233T>A)
c.*2652T>A (n.*2652T>A)
c.4314T>A (p.Phe1438Leu)
n.8141T>A
c.4680T>A (p.Phe1560Leu)
c.3957T>A (p.Phe1319Leu)
c.2508T>A (p.Phe836Leu)
2g.165386904T>CCA429972398SCN2Ac.4710T>C (p.Phe1570=)
c.*3029T>C (n.*3029T>C)
c.*2697T>C (n.*2697T>C)
c.*5233T>C (n.*5233T>C)
c.*2652T>C (n.*2652T>C)
c.4314T>C (p.Phe1438=)
n.8141T>C
c.4680T>C (p.Phe1560=)
c.3957T>C (p.Phe1319=)
c.2508T>C (p.Phe836=)
 COSMIC COSMIC
2g.165386904T>GCA349036587SCN2Ac.4710T>G (p.Phe1570Leu)
c.*3029T>G (n.*3029T>G)
c.*2697T>G (n.*2697T>G)
c.*5233T>G (n.*5233T>G)
c.*2652T>G (n.*2652T>G)
c.4314T>G (p.Phe1438Leu)
n.8141T>G
c.4680T>G (p.Phe1560Leu)
c.3957T>G (p.Phe1319Leu)
c.2508T>G (p.Phe836Leu)
2g.165386905A>CCA349036588SCN2Ac.4711A>C (p.Ile1571Leu)
c.*3030A>C (n.*3030A>C)
c.*2698A>C (n.*2698A>C)
c.*5234A>C (n.*5234A>C)
c.*2653A>C (n.*2653A>C)
c.4315A>C (p.Ile1439Leu)
n.8142A>C
c.4681A>C (p.Ile1561Leu)
c.3958A>C (p.Ile1320Leu)
c.2509A>C (p.Ile837Leu)
2g.165386905A>GCA349036589SCN2Ac.4711A>G (p.Ile1571Val)
c.*3030A>G (n.*3030A>G)
c.*2698A>G (n.*2698A>G)
c.*5234A>G (n.*5234A>G)
c.*2653A>G (n.*2653A>G)
c.4315A>G (p.Ile1439Val)
n.8142A>G
c.4681A>G (p.Ile1561Val)
c.3958A>G (p.Ile1320Val)
c.2509A>G (p.Ile837Val)
2g.165386905A>TCA349036590SCN2Ac.4711A>T (p.Ile1571Phe)
c.*3030A>T (n.*3030A>T)
c.*2698A>T (n.*2698A>T)
c.*5234A>T (n.*5234A>T)
c.*2653A>T (n.*2653A>T)
c.4315A>T (p.Ile1439Phe)
n.8142A>T
c.4681A>T (p.Ile1561Phe)
c.3958A>T (p.Ile1320Phe)
c.2509A>T (p.Ile837Phe)
2g.165386906T>ACA349036594SCN2Ac.4712T>A (p.Ile1571Asn)
c.*3031T>A (n.*3031T>A)
c.*2699T>A (n.*2699T>A)
c.*5235T>A (n.*5235T>A)
c.*2654T>A (n.*2654T>A)
c.4316T>A (p.Ile1439Asn)
n.8143T>A
c.4682T>A (p.Ile1561Asn)
c.3959T>A (p.Ile1320Asn)
c.2510T>A (p.Ile837Asn)
2g.165386906T>CCA349036596SCN2Ac.4712T>C (p.Ile1571Thr)
c.*3031T>C (n.*3031T>C)
c.*2699T>C (n.*2699T>C)
c.*5235T>C (n.*5235T>C)
c.*2654T>C (n.*2654T>C)
c.4316T>C (p.Ile1439Thr)
n.8143T>C
c.4682T>C (p.Ile1561Thr)
c.3959T>C (p.Ile1320Thr)
c.2510T>C (p.Ile837Thr)
 ClinVar dbSNP
2g.165386906T>GCA349036592SCN2Ac.4712T>G (p.Ile1571Ser)
c.*3031T>G (n.*3031T>G)
c.*2699T>G (n.*2699T>G)
c.*5235T>G (n.*5235T>G)
c.*2654T>G (n.*2654T>G)
c.4316T>G (p.Ile1439Ser)
n.8143T>G
c.4682T>G (p.Ile1561Ser)
c.3959T>G (p.Ile1320Ser)
c.2510T>G (p.Ile837Ser)
2g.165386907T>ACA429972400SCN2Ac.4713T>A (p.Ile1571=)
c.*3032T>A (n.*3032T>A)
c.*2700T>A (n.*2700T>A)
c.*5236T>A (n.*5236T>A)
c.*2655T>A (n.*2655T>A)
c.4317T>A (p.Ile1439=)
n.8144T>A
c.4683T>A (p.Ile1561=)
c.3960T>A (p.Ile1320=)
c.2511T>A (p.Ile837=)
2g.165386907T>CCA429972401SCN2Ac.4713T>C (p.Ile1571=)
c.*3032T>C (n.*3032T>C)
c.*2700T>C (n.*2700T>C)
c.*5236T>C (n.*5236T>C)
c.*2655T>C (n.*2655T>C)
c.4317T>C (p.Ile1439=)
n.8144T>C
c.4683T>C (p.Ile1561=)
c.3960T>C (p.Ile1320=)
c.2511T>C (p.Ile837=)
2g.165386907T>GCA349036597SCN2Ac.4713T>G (p.Ile1571Met)
c.*3032T>G (n.*3032T>G)
c.*2700T>G (n.*2700T>G)
c.*5236T>G (n.*5236T>G)
c.*2655T>G (n.*2655T>G)
c.4317T>G (p.Ile1439Met)
n.8144T>G
c.4683T>G (p.Ile1561Met)
c.3960T>G (p.Ile1320Met)
c.2511T>G (p.Ile837Met)
 ClinVar
2g.165386908G>ACA349036599SCN2Ac.4714G>A (p.Val1572Ile)
c.*3033G>A (n.*3033G>A)
c.*2701G>A (n.*2701G>A)
c.*5237G>A (n.*5237G>A)
c.*2656G>A (n.*2656G>A)
c.4318G>A (p.Val1440Ile)
n.8145G>A
c.4684G>A (p.Val1562Ile)
c.3961G>A (p.Val1321Ile)
c.2512G>A (p.Val838Ile)
 gnomAD v4
2g.165386908G>CCA349036600SCN2Ac.4714G>C (p.Val1572Leu)
c.*3033G>C (n.*3033G>C)
c.*2701G>C (n.*2701G>C)
c.*5237G>C (n.*5237G>C)
c.*2656G>C (n.*2656G>C)
c.4318G>C (p.Val1440Leu)
n.8145G>C
c.4684G>C (p.Val1562Leu)
c.3961G>C (p.Val1321Leu)
c.2512G>C (p.Val838Leu)
2g.165386908G>TCA349036602SCN2Ac.4714G>T (p.Val1572Phe)
c.*3033G>T (n.*3033G>T)
c.*2701G>T (n.*2701G>T)
c.*5237G>T (n.*5237G>T)
c.*2656G>T (n.*2656G>T)
c.4318G>T (p.Val1440Phe)
n.8145G>T
c.4684G>T (p.Val1562Phe)
c.3961G>T (p.Val1321Phe)
c.2512G>T (p.Val838Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.165386909T>ACA349036603SCN2Ac.4715T>A (p.Val1572Asp)
c.*3034T>A (n.*3034T>A)
c.*2702T>A (n.*2702T>A)
c.*5238T>A (n.*5238T>A)
c.*2657T>A (n.*2657T>A)
c.4319T>A (p.Val1440Asp)
n.8146T>A
c.4685T>A (p.Val1562Asp)
c.3962T>A (p.Val1321Asp)
c.2513T>A (p.Val838Asp)
2g.165386909T>CCA349036605SCN2Ac.4715T>C (p.Val1572Ala)
c.*3034T>C (n.*3034T>C)
c.*2702T>C (n.*2702T>C)
c.*5238T>C (n.*5238T>C)
c.*2657T>C (n.*2657T>C)
c.4319T>C (p.Val1440Ala)
n.8146T>C
c.4685T>C (p.Val1562Ala)
c.3962T>C (p.Val1321Ala)
c.2513T>C (p.Val838Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.165386909T>GCA349036606SCN2Ac.4715T>G (p.Val1572Gly)
c.*3034T>G (n.*3034T>G)
c.*2702T>G (n.*2702T>G)
c.*5238T>G (n.*5238T>G)
c.*2657T>G (n.*2657T>G)
c.4319T>G (p.Val1440Gly)
n.8146T>G
c.4685T>G (p.Val1562Gly)
c.3962T>G (p.Val1321Gly)
c.2513T>G (p.Val838Gly)
2g.165386909T=CA1304563798SCN2Ac.4715T= (p.Val1572=)
c.*3034T= (n.*3034T=)
c.*2702T= (n.*2702T=)
c.*5238T= (n.*5238T=)
c.*2657T= (n.*2657T=)
c.4319T= (p.Val1440=)
n.8146T=
c.4685T= (p.Val1562=)
c.3962T= (p.Val1321=)
c.2513T= (p.Val838=)
2g.165386910T>ACA429972402SCN2Ac.4716T>A (p.Val1572=)
c.*3035T>A (n.*3035T>A)
c.*2703T>A (n.*2703T>A)
c.*5239T>A (n.*5239T>A)
c.*2658T>A (n.*2658T>A)
c.4320T>A (p.Val1440=)
n.8147T>A
c.4686T>A (p.Val1562=)
c.3963T>A (p.Val1321=)
c.2514T>A (p.Val838=)
2g.165386910T>CCA429972403SCN2Ac.4716T>C (p.Val1572=)
c.*3035T>C (n.*3035T>C)
c.*2703T>C (n.*2703T>C)
c.*5239T>C (n.*5239T>C)
c.*2658T>C (n.*2658T>C)
c.4320T>C (p.Val1440=)
n.8147T>C
c.4686T>C (p.Val1562=)
c.3963T>C (p.Val1321=)
c.2514T>C (p.Val838=)
2g.165386910T>GCA429972404SCN2Ac.4716T>G (p.Val1572=)
c.*3035T>G (n.*3035T>G)
c.*2703T>G (n.*2703T>G)
c.*5239T>G (n.*5239T>G)
c.*2658T>G (n.*2658T>G)
c.4320T>G (p.Val1440=)
n.8147T>G
c.4686T>G (p.Val1562=)
c.3963T>G (p.Val1321=)
c.2514T>G (p.Val838=)
2g.165386911C>ACA349036607SCN2Ac.4717C>A (p.Leu1573Met)
c.*3036C>A (n.*3036C>A)
c.*2704C>A (n.*2704C>A)
c.*5240C>A (n.*5240C>A)
c.*2659C>A (n.*2659C>A)
c.4321C>A (p.Leu1441Met)
n.8148C>A
c.4687C>A (p.Leu1563Met)
c.3964C>A (p.Leu1322Met)
c.2515C>A (p.Leu839Met)
2g.165386911C>GCA349036609SCN2Ac.4717C>G (p.Leu1573Val)
c.*3036C>G (n.*3036C>G)
c.*2704C>G (n.*2704C>G)
c.*5240C>G (n.*5240C>G)
c.*2659C>G (n.*2659C>G)
c.4321C>G (p.Leu1441Val)
n.8148C>G
c.4687C>G (p.Leu1563Val)
c.3964C>G (p.Leu1322Val)
c.2515C>G (p.Leu839Val)
2g.165386911C>TCA429972405SCN2Ac.4717C>T (p.Leu1573=)
c.*3036C>T (n.*3036C>T)
c.*2704C>T (n.*2704C>T)
c.*5240C>T (n.*5240C>T)
c.*2659C>T (n.*2659C>T)
c.4321C>T (p.Leu1441=)
n.8148C>T
c.4687C>T (p.Leu1563=)
c.3964C>T (p.Leu1322=)
c.2515C>T (p.Leu839=)
2g.165386912T>ACA349036611SCN2Ac.4718T>A (p.Leu1573Gln)
c.*3037T>A (n.*3037T>A)
c.*2705T>A (n.*2705T>A)
c.*5241T>A (n.*5241T>A)
c.*2660T>A (n.*2660T>A)
c.4322T>A (p.Leu1441Gln)
n.8149T>A
c.4688T>A (p.Leu1563Gln)
c.3965T>A (p.Leu1322Gln)
c.2516T>A (p.Leu839Gln)
2g.165386912T>CCA318003SCN2Ac.4718T>C (p.Leu1573Pro)
c.*3037T>C (n.*3037T>C)
c.*2705T>C (n.*2705T>C)
c.*5241T>C (n.*5241T>C)
c.*2660T>C (n.*2660T>C)
c.4322T>C (p.Leu1441Pro)
n.8149T>C
c.4688T>C (p.Leu1563Pro)
c.3965T>C (p.Leu1322Pro)
c.2516T>C (p.Leu839Pro)
 ClinVar dbSNP
2g.165386912T>GCA349036613SCN2Ac.4718T>G (p.Leu1573Arg)
c.*3037T>G (n.*3037T>G)
c.*2705T>G (n.*2705T>G)
c.*5241T>G (n.*5241T>G)
c.*2660T>G (n.*2660T>G)
c.4322T>G (p.Leu1441Arg)
n.8149T>G
c.4688T>G (p.Leu1563Arg)
c.3965T>G (p.Leu1322Arg)
c.2516T>G (p.Leu839Arg)
2g.165386912T=CA1304563799SCN2Ac.4718T= (p.Leu1573=)
c.*3037T= (n.*3037T=)
c.*2705T= (n.*2705T=)
c.*5241T= (n.*5241T=)
c.*2660T= (n.*2660T=)
c.4322T= (p.Leu1441=)
n.8149T=
c.4688T= (p.Leu1563=)
c.3965T= (p.Leu1322=)
c.2516T= (p.Leu839=)
2g.165386913G>ACA429972406SCN2Ac.4719G>A (p.Leu1573=)
c.*3038G>A (n.*3038G>A)
c.*2706G>A (n.*2706G>A)
c.*5242G>A (n.*5242G>A)
c.*2661G>A (n.*2661G>A)
c.4323G>A (p.Leu1441=)
n.8150G>A
c.4689G>A (p.Leu1563=)
c.3966G>A (p.Leu1322=)
c.2517G>A (p.Leu839=)
2g.165386913G>CCA59751053SCN2Ac.4719G>C (p.Leu1573=)
c.*3038G>C (n.*3038G>C)
c.*2706G>C (n.*2706G>C)
c.*5242G>C (n.*5242G>C)
c.*2661G>C (n.*2661G>C)
c.4323G>C (p.Leu1441=)
n.8150G>C
c.4689G>C (p.Leu1563=)
c.3966G>C (p.Leu1322=)
c.2517G>C (p.Leu839=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165386913G=CA1304563800SCN2Ac.4719G= (p.Leu1573=)
c.*3038G= (n.*3038G=)
c.*2706G= (n.*2706G=)
c.*5242G= (n.*5242G=)
c.*2661G= (n.*2661G=)
c.4323G= (p.Leu1441=)
n.8150G=
c.4689G= (p.Leu1563=)
c.3966G= (p.Leu1322=)
c.2517G= (p.Leu839=)
2g.165386913G>TCA429972407SCN2Ac.4719G>T (p.Leu1573=)
c.*3038G>T (n.*3038G>T)
c.*2706G>T (n.*2706G>T)
c.*5242G>T (n.*5242G>T)
c.*2661G>T (n.*2661G>T)
c.4323G>T (p.Leu1441=)
n.8150G>T
c.4689G>T (p.Leu1563=)
c.3966G>T (p.Leu1322=)
c.2517G>T (p.Leu839=)
2g.165386914T>ACA349036616SCN2Ac.4720T>A (p.Phe1574Ile)
c.*3039T>A (n.*3039T>A)
c.*2707T>A (n.*2707T>A)
c.*5243T>A (n.*5243T>A)
c.*2662T>A (n.*2662T>A)
c.4324T>A (p.Phe1442Ile)
n.8151T>A
c.4690T>A (p.Phe1564Ile)
c.3967T>A (p.Phe1323Ile)
c.2518T>A (p.Phe840Ile)
2g.165386914T>CCA349036617SCN2Ac.4720T>C (p.Phe1574Leu)
c.*3039T>C (n.*3039T>C)
c.*2707T>C (n.*2707T>C)
c.*5243T>C (n.*5243T>C)
c.*2662T>C (n.*2662T>C)
c.4324T>C (p.Phe1442Leu)
n.8151T>C
c.4690T>C (p.Phe1564Leu)
c.3967T>C (p.Phe1323Leu)
c.2518T>C (p.Phe840Leu)
2g.165386914T>GCA349036619SCN2Ac.4720T>G (p.Phe1574Val)
c.*3039T>G (n.*3039T>G)
c.*2707T>G (n.*2707T>G)
c.*5243T>G (n.*5243T>G)
c.*2662T>G (n.*2662T>G)
c.4324T>G (p.Phe1442Val)
n.8151T>G
c.4690T>G (p.Phe1564Val)
c.3967T>G (p.Phe1323Val)
c.2518T>G (p.Phe840Val)
2g.165386915T>ACA349036621SCN2Ac.4721T>A (p.Phe1574Tyr)
c.*3040T>A (n.*3040T>A)
c.*2708T>A (n.*2708T>A)
c.*5244T>A (n.*5244T>A)
c.*2663T>A (n.*2663T>A)
c.4325T>A (p.Phe1442Tyr)
n.8152T>A
c.4691T>A (p.Phe1564Tyr)
c.3968T>A (p.Phe1323Tyr)
c.2519T>A (p.Phe840Tyr)
2g.165386915T>CCA349036623SCN2Ac.4721T>C (p.Phe1574Ser)
c.*3040T>C (n.*3040T>C)
c.*2708T>C (n.*2708T>C)
c.*5244T>C (n.*5244T>C)
c.*2663T>C (n.*2663T>C)
c.4325T>C (p.Phe1442Ser)
n.8152T>C
c.4691T>C (p.Phe1564Ser)
c.3968T>C (p.Phe1323Ser)
c.2519T>C (p.Phe840Ser)
2g.165386915T>GCA349036622SCN2Ac.4721T>G (p.Phe1574Cys)
c.*3040T>G (n.*3040T>G)
c.*2708T>G (n.*2708T>G)
c.*5244T>G (n.*5244T>G)
c.*2663T>G (n.*2663T>G)
c.4325T>G (p.Phe1442Cys)
n.8152T>G
c.4691T>G (p.Phe1564Cys)
c.3968T>G (p.Phe1323Cys)
c.2519T>G (p.Phe840Cys)
2g.165386916C>ACA349036625SCN2Ac.4722C>A (p.Phe1574Leu)
c.*3041C>A (n.*3041C>A)
c.*2709C>A (n.*2709C>A)
c.*5245C>A (n.*5245C>A)
c.*2664C>A (n.*2664C>A)
c.4326C>A (p.Phe1442Leu)
n.8153C>A
c.4692C>A (p.Phe1564Leu)
c.3969C>A (p.Phe1323Leu)
c.2520C>A (p.Phe840Leu)
 ClinVar dbSNP
2g.165386916C=CA1304563801SCN2Ac.4722C= (p.Phe1574=)
c.*3041C= (n.*3041C=)
c.*2709C= (n.*2709C=)
c.*5245C= (n.*5245C=)
c.*2664C= (n.*2664C=)
c.4326C= (p.Phe1442=)
n.8153C=
c.4692C= (p.Phe1564=)
c.3969C= (p.Phe1323=)
c.2520C= (p.Phe840=)
2g.165386916C>GCA349036627SCN2Ac.4722C>G (p.Phe1574Leu)
c.*3041C>G (n.*3041C>G)
c.*2709C>G (n.*2709C>G)
c.*5245C>G (n.*5245C>G)
c.*2664C>G (n.*2664C>G)
c.4326C>G (p.Phe1442Leu)
n.8153C>G
c.4692C>G (p.Phe1564Leu)
c.3969C>G (p.Phe1323Leu)
c.2520C>G (p.Phe840Leu)
2g.165386916C>TCA429972409SCN2Ac.4722C>T (p.Phe1574=)
c.*3041C>T (n.*3041C>T)
c.*2709C>T (n.*2709C>T)
c.*5245C>T (n.*5245C>T)
c.*2664C>T (n.*2664C>T)
c.4326C>T (p.Phe1442=)
n.8153C>T
c.4692C>T (p.Phe1564=)
c.3969C>T (p.Phe1323=)
c.2520C>T (p.Phe840=)
2g.165386917A>CCA349036629SCN2Ac.4723A>C (p.Thr1575Pro)
c.*3042A>C (n.*3042A>C)
c.*2710A>C (n.*2710A>C)
c.*5246A>C (n.*5246A>C)
c.*2665A>C (n.*2665A>C)
c.4327A>C (p.Thr1443Pro)
n.8154A>C
c.4693A>C (p.Thr1565Pro)
c.3970A>C (p.Thr1324Pro)
c.2521A>C (p.Thr841Pro)
2g.165386917A>GCA349036630SCN2Ac.4723A>G (p.Thr1575Ala)
c.*3042A>G (n.*3042A>G)
c.*2710A>G (n.*2710A>G)
c.*5246A>G (n.*5246A>G)
c.*2665A>G (n.*2665A>G)
c.4327A>G (p.Thr1443Ala)
n.8154A>G
c.4693A>G (p.Thr1565Ala)
c.3970A>G (p.Thr1324Ala)
c.2521A>G (p.Thr841Ala)
2g.165386917A>TCA349036631SCN2Ac.4723A>T (p.Thr1575Ser)
c.*3042A>T (n.*3042A>T)
c.*2710A>T (n.*2710A>T)
c.*5246A>T (n.*5246A>T)
c.*2665A>T (n.*2665A>T)
c.4327A>T (p.Thr1443Ser)
n.8154A>T
c.4693A>T (p.Thr1565Ser)
c.3970A>T (p.Thr1324Ser)
c.2521A>T (p.Thr841Ser)
2g.165386918C>ACA349036635SCN2Ac.4724C>A (p.Thr1575Asn)
c.*3043C>A (n.*3043C>A)
c.*2711C>A (n.*2711C>A)
c.*5247C>A (n.*5247C>A)
c.*2666C>A (n.*2666C>A)
c.4328C>A (p.Thr1443Asn)
n.8155C>A
c.4694C>A (p.Thr1565Asn)
c.3971C>A (p.Thr1324Asn)
c.2522C>A (p.Thr841Asn)
2g.165386918C>GCA349036636SCN2Ac.4724C>G (p.Thr1575Ser)
c.*3043C>G (n.*3043C>G)
c.*2711C>G (n.*2711C>G)
c.*5247C>G (n.*5247C>G)
c.*2666C>G (n.*2666C>G)
c.4328C>G (p.Thr1443Ser)
n.8155C>G
c.4694C>G (p.Thr1565Ser)
c.3971C>G (p.Thr1324Ser)
c.2522C>G (p.Thr841Ser)
2g.165386918C>TCA349036638SCN2Ac.4724C>T (p.Thr1575Ile)
c.*3043C>T (n.*3043C>T)
c.*2711C>T (n.*2711C>T)
c.*5247C>T (n.*5247C>T)
c.*2666C>T (n.*2666C>T)
c.4328C>T (p.Thr1443Ile)
n.8155C>T
c.4694C>T (p.Thr1565Ile)
c.3971C>T (p.Thr1324Ile)
c.2522C>T (p.Thr841Ile)
2g.165386919T>ACA429972411SCN2Ac.4725T>A (p.Thr1575=)
c.*3044T>A (n.*3044T>A)
c.*2712T>A (n.*2712T>A)
c.*5248T>A (n.*5248T>A)
c.*2667T>A (n.*2667T>A)
c.4329T>A (p.Thr1443=)
n.8156T>A
c.4695T>A (p.Thr1565=)
c.3972T>A (p.Thr1324=)
c.2523T>A (p.Thr841=)
2g.165386919T>CCA429972412SCN2Ac.4725T>C (p.Thr1575=)
c.*3044T>C (n.*3044T>C)
c.*2712T>C (n.*2712T>C)
c.*5248T>C (n.*5248T>C)
c.*2667T>C (n.*2667T>C)
c.4329T>C (p.Thr1443=)
n.8156T>C
c.4695T>C (p.Thr1565=)
c.3972T>C (p.Thr1324=)
c.2523T>C (p.Thr841=)
2g.165386919T>GCA429972413SCN2Ac.4725T>G (p.Thr1575=)
c.*3044T>G (n.*3044T>G)
c.*2712T>G (n.*2712T>G)
c.*5248T>G (n.*5248T>G)
c.*2667T>G (n.*2667T>G)
c.4329T>G (p.Thr1443=)
n.8156T>G
c.4695T>G (p.Thr1565=)
c.3972T>G (p.Thr1324=)
c.2523T>G (p.Thr841=)
2g.165386919_165386920delinsTGCA1304563802SCN2Ac.4725_4726delinsTG (p.Thr1575=)
c.*3044_*3045delinsTG (n.*3044_*3045delinsTG)
c.*2712_*2713delinsTG (n.*2712_*2713delinsTG)
c.*5248_*5249delinsTG (n.*5248_*5249delinsTG)
c.*2667_*2668delinsTG (n.*2667_*2668delinsTG)
c.4329_4330delinsTG (p.Thr1443=)
n.8156_8157delinsTG
c.4695_4696delinsTG (p.Thr1565=)
c.3972_3973delinsTG (p.Thr1324=)
c.2523_2524delinsTG (p.Thr841=)
2g.165386920G>ACA354201SCN2Ac.4726G>A (p.Gly1576Arg)
c.*3045G>A (n.*3045G>A)
c.*2713G>A (n.*2713G>A)
c.*5249G>A (n.*5249G>A)
c.*2668G>A (n.*2668G>A)
c.4330G>A (p.Gly1444Arg)
n.8157G>A
c.4696G>A (p.Gly1566Arg)
c.3973G>A (p.Gly1325Arg)
c.2524G>A (p.Gly842Arg)
 ClinVar dbSNP
2g.165386920G>CCA349036640SCN2Ac.4726G>C (p.Gly1576Arg)
c.*3045G>C (n.*3045G>C)
c.*2713G>C (n.*2713G>C)
c.*5249G>C (n.*5249G>C)
c.*2668G>C (n.*2668G>C)
c.4330G>C (p.Gly1444Arg)
n.8157G>C
c.4696G>C (p.Gly1566Arg)
c.3973G>C (p.Gly1325Arg)
c.2524G>C (p.Gly842Arg)
2g.165386920G=CA1304563803SCN2Ac.4726G= (p.Gly1576=)
c.*3045G= (n.*3045G=)
c.*2713G= (n.*2713G=)
c.*5249G= (n.*5249G=)
c.*2668G= (n.*2668G=)
c.4330G= (p.Gly1444=)
n.8157G=
c.4696G= (p.Gly1566=)
c.3973G= (p.Gly1325=)
c.2524G= (p.Gly842=)
2g.165386920G>TCA349036642SCN2Ac.4726G>T (p.Gly1576Ter)
c.*3045G>T (n.*3045G>T)
c.*2713G>T (n.*2713G>T)
c.*5249G>T (n.*5249G>T)
c.*2668G>T (n.*2668G>T)
c.4330G>T (p.Gly1444Ter)
n.8157G>T
c.4696G>T (p.Gly1566Ter)
c.3973G>T (p.Gly1325Ter)
c.2524G>T (p.Gly842Ter)
 dbSNP
2g.165386921delCA658821441SCN2Ac.4727del (p.Gly1576GlufsTer5)
c.*3046del (n.*3046del)
c.*2714del (n.*2714del)
c.*5250del (n.*5250del)
c.*2669del (n.*2669del)
c.4331del (p.Gly1444GlufsTer5)
n.8158del
c.4697del (p.Gly1566GlufsTer5)
c.3974del (p.Gly1325GlufsTer5)
c.2525del (p.Gly842GlufsTer5)
 ClinVar dbSNP
2g.165386921G>ACA349036644SCN2Ac.4727G>A (p.Gly1576Glu)
c.*3046G>A (n.*3046G>A)
c.*2714G>A (n.*2714G>A)
c.*5250G>A (n.*5250G>A)
c.*2669G>A (n.*2669G>A)
c.4331G>A (p.Gly1444Glu)
n.8158G>A
c.4697G>A (p.Gly1566Glu)
c.3974G>A (p.Gly1325Glu)
c.2525G>A (p.Gly842Glu)
 COSMIC COSMIC
2g.165386921G>CCA349036647SCN2Ac.4727G>C (p.Gly1576Ala)
c.*3046G>C (n.*3046G>C)
c.*2714G>C (n.*2714G>C)
c.*5250G>C (n.*5250G>C)
c.*2669G>C (n.*2669G>C)
c.4331G>C (p.Gly1444Ala)
n.8158G>C
c.4697G>C (p.Gly1566Ala)
c.3974G>C (p.Gly1325Ala)
c.2525G>C (p.Gly842Ala)
2g.165386921G>TCA349036646SCN2Ac.4727G>T (p.Gly1576Val)
c.*3046G>T (n.*3046G>T)
c.*2714G>T (n.*2714G>T)
c.*5250G>T (n.*5250G>T)
c.*2669G>T (n.*2669G>T)
c.4331G>T (p.Gly1444Val)
n.8158G>T
c.4697G>T (p.Gly1566Val)
c.3974G>T (p.Gly1325Val)
c.2525G>T (p.Gly842Val)
2g.165386922A>CCA429972415SCN2Ac.4728A>C (p.Gly1576=)
c.*3047A>C (n.*3047A>C)
c.*2715A>C (n.*2715A>C)
c.*5251A>C (n.*5251A>C)
c.*2670A>C (n.*2670A>C)
c.4332A>C (p.Gly1444=)
n.8159A>C
c.4698A>C (p.Gly1566=)
c.3975A>C (p.Gly1325=)
c.2526A>C (p.Gly842=)
2g.165386922A>GCA429972416SCN2Ac.4728A>G (p.Gly1576=)
c.*3047A>G (n.*3047A>G)
c.*2715A>G (n.*2715A>G)
c.*5251A>G (n.*5251A>G)
c.*2670A>G (n.*2670A>G)
c.4332A>G (p.Gly1444=)
n.8159A>G
c.4698A>G (p.Gly1566=)
c.3975A>G (p.Gly1325=)
c.2526A>G (p.Gly842=)
2g.165386922A>TCA429972417SCN2Ac.4728A>T (p.Gly1576=)
c.*3047A>T (n.*3047A>T)
c.*2715A>T (n.*2715A>T)
c.*5251A>T (n.*5251A>T)
c.*2670A>T (n.*2670A>T)
c.4332A>T (p.Gly1444=)
n.8159A>T
c.4698A>T (p.Gly1566=)
c.3975A>T (p.Gly1325=)
c.2526A>T (p.Gly842=)
2g.165386923G>ACA349036649SCN2Ac.4729G>A (p.Glu1577Lys)
c.*3048G>A (n.*3048G>A)
c.*2716G>A (n.*2716G>A)
c.*5252G>A (n.*5252G>A)
c.*2671G>A (n.*2671G>A)
c.4333G>A (p.Glu1445Lys)
n.8160G>A
c.4699G>A (p.Glu1567Lys)
c.3976G>A (p.Glu1326Lys)
c.2527G>A (p.Glu843Lys)
2g.165386923G>CCA349036650SCN2Ac.4729G>C (p.Glu1577Gln)
c.*3048G>C (n.*3048G>C)
c.*2716G>C (n.*2716G>C)
c.*5252G>C (n.*5252G>C)
c.*2671G>C (n.*2671G>C)
c.4333G>C (p.Glu1445Gln)
n.8160G>C
c.4699G>C (p.Glu1567Gln)
c.3976G>C (p.Glu1326Gln)
c.2527G>C (p.Glu843Gln)
2g.165386923G=CA1304563804SCN2Ac.4729G= (p.Glu1577=)
c.*3048G= (n.*3048G=)
c.*2716G= (n.*2716G=)
c.*5252G= (n.*5252G=)
c.*2671G= (n.*2671G=)
c.4333G= (p.Glu1445=)
n.8160G=
c.4699G= (p.Glu1567=)
c.3976G= (p.Glu1326=)
c.2527G= (p.Glu843=)
2g.165386923G>TCA349036652SCN2Ac.4729G>T (p.Glu1577Ter)
c.*3048G>T (n.*3048G>T)
c.*2716G>T (n.*2716G>T)
c.*5252G>T (n.*5252G>T)
c.*2671G>T (n.*2671G>T)
c.4333G>T (p.Glu1445Ter)
n.8160G>T
c.4699G>T (p.Glu1567Ter)
c.3976G>T (p.Glu1326Ter)
c.2527G>T (p.Glu843Ter)
 dbSNP
2g.165386924A>CCA349036653SCN2Ac.4730A>C (p.Glu1577Ala)
c.*3049A>C (n.*3049A>C)
c.*2717A>C (n.*2717A>C)
c.*5253A>C (n.*5253A>C)
c.*2672A>C (n.*2672A>C)
c.4334A>C (p.Glu1445Ala)
n.8161A>C
c.4700A>C (p.Glu1567Ala)
c.3977A>C (p.Glu1326Ala)
c.2528A>C (p.Glu843Ala)
2g.165386924A>GCA349036655SCN2Ac.4730A>G (p.Glu1577Gly)
c.*3049A>G (n.*3049A>G)
c.*2717A>G (n.*2717A>G)
c.*5253A>G (n.*5253A>G)
c.*2672A>G (n.*2672A>G)
c.4334A>G (p.Glu1445Gly)
n.8161A>G
c.4700A>G (p.Glu1567Gly)
c.3977A>G (p.Glu1326Gly)
c.2528A>G (p.Glu843Gly)
 ClinVar
2g.165386924A>TCA349036656SCN2Ac.4730A>T (p.Glu1577Val)
c.*3049A>T (n.*3049A>T)
c.*2717A>T (n.*2717A>T)
c.*5253A>T (n.*5253A>T)
c.*2672A>T (n.*2672A>T)
c.4334A>T (p.Glu1445Val)
n.8161A>T
c.4700A>T (p.Glu1567Val)
c.3977A>T (p.Glu1326Val)
c.2528A>T (p.Glu843Val)
2g.165386925A>CCA349036658SCN2Ac.4731A>C (p.Glu1577Asp)
c.*3050A>C (n.*3050A>C)
c.*2718A>C (n.*2718A>C)
c.*5254A>C (n.*5254A>C)
c.*2673A>C (n.*2673A>C)
c.4335A>C (p.Glu1445Asp)
n.8162A>C
c.4701A>C (p.Glu1567Asp)
c.3978A>C (p.Glu1326Asp)
c.2529A>C (p.Glu843Asp)
2g.165386925A>GCA429972419SCN2Ac.4731A>G (p.Glu1577=)
c.*3050A>G (n.*3050A>G)
c.*2718A>G (n.*2718A>G)
c.*5254A>G (n.*5254A>G)
c.*2673A>G (n.*2673A>G)
c.4335A>G (p.Glu1445=)
n.8162A>G
c.4701A>G (p.Glu1567=)
c.3978A>G (p.Glu1326=)
c.2529A>G (p.Glu843=)
2g.165386925A>TCA349036660SCN2Ac.4731A>T (p.Glu1577Asp)
c.*3050A>T (n.*3050A>T)
c.*2718A>T (n.*2718A>T)
c.*5254A>T (n.*5254A>T)
c.*2673A>T (n.*2673A>T)
c.4335A>T (p.Glu1445Asp)
n.8162A>T
c.4701A>T (p.Glu1567Asp)
c.3978A>T (p.Glu1326Asp)
c.2529A>T (p.Glu843Asp)
2g.165386926T>ACA349036661SCN2Ac.4732T>A (p.Cys1578Ser)
c.*3051T>A (n.*3051T>A)
c.*2719T>A (n.*2719T>A)
c.*5255T>A (n.*5255T>A)
c.*2674T>A (n.*2674T>A)
c.4336T>A (p.Cys1446Ser)
n.8163T>A
c.4702T>A (p.Cys1568Ser)
c.3979T>A (p.Cys1327Ser)
c.2530T>A (p.Cys844Ser)
2g.165386926T>CCA349036663SCN2Ac.4732T>C (p.Cys1578Arg)
c.*3051T>C (n.*3051T>C)
c.*2719T>C (n.*2719T>C)
c.*5255T>C (n.*5255T>C)
c.*2674T>C (n.*2674T>C)
c.4336T>C (p.Cys1446Arg)
n.8163T>C
c.4702T>C (p.Cys1568Arg)
c.3979T>C (p.Cys1327Arg)
c.2530T>C (p.Cys844Arg)
2g.165386926T>GCA349036664SCN2Ac.4732T>G (p.Cys1578Gly)
c.*3051T>G (n.*3051T>G)
c.*2719T>G (n.*2719T>G)
c.*5255T>G (n.*5255T>G)
c.*2674T>G (n.*2674T>G)
c.4336T>G (p.Cys1446Gly)
n.8163T>G
c.4702T>G (p.Cys1568Gly)
c.3979T>G (p.Cys1327Gly)
c.2530T>G (p.Cys844Gly)
 ClinVar dbSNP
2g.165386926T=CA1304563805SCN2Ac.4732T= (p.Cys1578=)
c.*3051T= (n.*3051T=)
c.*2719T= (n.*2719T=)
c.*5255T= (n.*5255T=)
c.*2674T= (n.*2674T=)
c.4336T= (p.Cys1446=)
n.8163T=
c.4702T= (p.Cys1568=)
c.3979T= (p.Cys1327=)
c.2530T= (p.Cys844=)
2g.165386927G>ACA349036670SCN2Ac.4733G>A (p.Cys1578Tyr)
c.*3052G>A (n.*3052G>A)
c.*2720G>A (n.*2720G>A)
c.*5256G>A (n.*5256G>A)
c.*2675G>A (n.*2675G>A)
c.4337G>A (p.Cys1446Tyr)
n.8164G>A
c.4703G>A (p.Cys1568Tyr)
c.3980G>A (p.Cys1327Tyr)
c.2531G>A (p.Cys844Tyr)
2g.165386927G>CCA349036668SCN2Ac.4733G>C (p.Cys1578Ser)
c.*3052G>C (n.*3052G>C)
c.*2720G>C (n.*2720G>C)
c.*5256G>C (n.*5256G>C)
c.*2675G>C (n.*2675G>C)
c.4337G>C (p.Cys1446Ser)
n.8164G>C
c.4703G>C (p.Cys1568Ser)
c.3980G>C (p.Cys1327Ser)
c.2531G>C (p.Cys844Ser)
2g.165386927G>TCA349036667SCN2Ac.4733G>T (p.Cys1578Phe)
c.*3052G>T (n.*3052G>T)
c.*2720G>T (n.*2720G>T)
c.*5256G>T (n.*5256G>T)
c.*2675G>T (n.*2675G>T)
c.4337G>T (p.Cys1446Phe)
n.8164G>T
c.4703G>T (p.Cys1568Phe)
c.3980G>T (p.Cys1327Phe)
c.2531G>T (p.Cys844Phe)
2g.165386928T>ACA349036671SCN2Ac.4734T>A (p.Cys1578Ter)
c.*3053T>A (n.*3053T>A)
c.*2721T>A (n.*2721T>A)
c.*5257T>A (n.*5257T>A)
c.*2676T>A (n.*2676T>A)
c.4338T>A (p.Cys1446Ter)
n.8165T>A
c.4704T>A (p.Cys1568Ter)
c.3981T>A (p.Cys1327Ter)
c.2532T>A (p.Cys844Ter)
 dbSNP
2g.165386928T>CCA429972423SCN2Ac.4734T>C (p.Cys1578=)
c.*3053T>C (n.*3053T>C)
c.*2721T>C (n.*2721T>C)
c.*5257T>C (n.*5257T>C)
c.*2676T>C (n.*2676T>C)
c.4338T>C (p.Cys1446=)
n.8165T>C
c.4704T>C (p.Cys1568=)
c.3981T>C (p.Cys1327=)
c.2532T>C (p.Cys844=)
 gnomAD v4
2g.165386928T>GCA349036672SCN2Ac.4734T>G (p.Cys1578Trp)
c.*3053T>G (n.*3053T>G)
c.*2721T>G (n.*2721T>G)
c.*5257T>G (n.*5257T>G)
c.*2676T>G (n.*2676T>G)
c.4338T>G (p.Cys1446Trp)
n.8165T>G
c.4704T>G (p.Cys1568Trp)
c.3981T>G (p.Cys1327Trp)
c.2532T>G (p.Cys844Trp)
2g.165386928T=CA1304563806SCN2Ac.4734T= (p.Cys1578=)
c.*3053T= (n.*3053T=)
c.*2721T= (n.*2721T=)
c.*5257T= (n.*5257T=)
c.*2676T= (n.*2676T=)
c.4338T= (p.Cys1446=)
n.8165T=
c.4704T= (p.Cys1568=)
c.3981T= (p.Cys1327=)
c.2532T= (p.Cys844=)
2g.165386929G>ACA349036674SCN2Ac.4735G>A (p.Val1579Met)
c.*3054G>A (n.*3054G>A)
c.*2722G>A (n.*2722G>A)
c.*5258G>A (n.*5258G>A)
c.*2677G>A (n.*2677G>A)
c.4339G>A (p.Val1447Met)
n.8166G>A
c.4705G>A (p.Val1569Met)
c.3982G>A (p.Val1328Met)
c.2533G>A (p.Val845Met)
2g.165386929G>CCA349036676SCN2Ac.4735G>C (p.Val1579Leu)
c.*3054G>C (n.*3054G>C)
c.*2722G>C (n.*2722G>C)
c.*5258G>C (n.*5258G>C)
c.*2677G>C (n.*2677G>C)
c.4339G>C (p.Val1447Leu)
n.8166G>C
c.4705G>C (p.Val1569Leu)
c.3982G>C (p.Val1328Leu)
c.2533G>C (p.Val845Leu)
2g.165386929G>TCA349036677SCN2Ac.4735G>T (p.Val1579Leu)
c.*3054G>T (n.*3054G>T)
c.*2722G>T (n.*2722G>T)
c.*5258G>T (n.*5258G>T)
c.*2677G>T (n.*2677G>T)
c.4339G>T (p.Val1447Leu)
n.8166G>T
c.4705G>T (p.Val1569Leu)
c.3982G>T (p.Val1328Leu)
c.2533G>T (p.Val845Leu)
2g.165386930T>ACA349036678SCN2Ac.4736T>A (p.Val1579Glu)
c.*3055T>A (n.*3055T>A)
c.*2723T>A (n.*2723T>A)
c.*5259T>A (n.*5259T>A)
c.*2678T>A (n.*2678T>A)
c.4340T>A (p.Val1447Glu)
n.8167T>A
c.4706T>A (p.Val1569Glu)
c.3983T>A (p.Val1328Glu)
c.2534T>A (p.Val845Glu)
2g.165386930T>CCA349036680SCN2Ac.4736T>C (p.Val1579Ala)
c.*3055T>C (n.*3055T>C)
c.*2723T>C (n.*2723T>C)
c.*5259T>C (n.*5259T>C)
c.*2678T>C (n.*2678T>C)
c.4340T>C (p.Val1447Ala)
n.8167T>C
c.4706T>C (p.Val1569Ala)
c.3983T>C (p.Val1328Ala)
c.2534T>C (p.Val845Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165386930T>GCA349036682SCN2Ac.4736T>G (p.Val1579Gly)
c.*3055T>G (n.*3055T>G)
c.*2723T>G (n.*2723T>G)
c.*5259T>G (n.*5259T>G)
c.*2678T>G (n.*2678T>G)
c.4340T>G (p.Val1447Gly)
n.8167T>G
c.4706T>G (p.Val1569Gly)
c.3983T>G (p.Val1328Gly)
c.2534T>G (p.Val845Gly)
2g.165386930T=CA1304563807SCN2Ac.4736T= (p.Val1579=)
c.*3055T= (n.*3055T=)
c.*2723T= (n.*2723T=)
c.*5259T= (n.*5259T=)
c.*2678T= (n.*2678T=)
c.4340T= (p.Val1447=)
n.8167T=
c.4706T= (p.Val1569=)
c.3983T= (p.Val1328=)
c.2534T= (p.Val845=)
2g.165386931G>ACA429972424SCN2Ac.4737G>A (p.Val1579=)
c.*3056G>A (n.*3056G>A)
c.*2724G>A (n.*2724G>A)
c.*5260G>A (n.*5260G>A)
c.*2679G>A (n.*2679G>A)
c.4341G>A (p.Val1447=)
n.8168G>A
c.4707G>A (p.Val1569=)
c.3984G>A (p.Val1328=)
c.2535G>A (p.Val845=)
 gnomAD v4
2g.165386931G>CCA429972425SCN2Ac.4737G>C (p.Val1579=)
c.*3056G>C (n.*3056G>C)
c.*2724G>C (n.*2724G>C)
c.*5260G>C (n.*5260G>C)
c.*2679G>C (n.*2679G>C)
c.4341G>C (p.Val1447=)
n.8168G>C
c.4707G>C (p.Val1569=)
c.3984G>C (p.Val1328=)
c.2535G>C (p.Val845=)
2g.165386931G>TCA429972426SCN2Ac.4737G>T (p.Val1579=)
c.*3056G>T (n.*3056G>T)
c.*2724G>T (n.*2724G>T)
c.*5260G>T (n.*5260G>T)
c.*2679G>T (n.*2679G>T)
c.4341G>T (p.Val1447=)
n.8168G>T
c.4707G>T (p.Val1569=)
c.3984G>T (p.Val1328=)
c.2535G>T (p.Val845=)
2g.165386932C>ACA349036683SCN2Ac.4738C>A (p.Leu1580Met)
c.*3057C>A (n.*3057C>A)
c.*2725C>A (n.*2725C>A)
c.*5261C>A (n.*5261C>A)
c.*2680C>A (n.*2680C>A)
c.4342C>A (p.Leu1448Met)
n.8169C>A
c.4708C>A (p.Leu1570Met)
c.3985C>A (p.Leu1329Met)
c.2536C>A (p.Leu846Met)
2g.165386932C>GCA349036685SCN2Ac.4738C>G (p.Leu1580Val)
c.*3057C>G (n.*3057C>G)
c.*2725C>G (n.*2725C>G)
c.*5261C>G (n.*5261C>G)
c.*2680C>G (n.*2680C>G)
c.4342C>G (p.Leu1448Val)
n.8169C>G
c.4708C>G (p.Leu1570Val)
c.3985C>G (p.Leu1329Val)
c.2536C>G (p.Leu846Val)
2g.165386932C>TCA429972427SCN2Ac.4738C>T (p.Leu1580=)
c.*3057C>T (n.*3057C>T)
c.*2725C>T (n.*2725C>T)
c.*5261C>T (n.*5261C>T)
c.*2680C>T (n.*2680C>T)
c.4342C>T (p.Leu1448=)
n.8169C>T
c.4708C>T (p.Leu1570=)
c.3985C>T (p.Leu1329=)
c.2536C>T (p.Leu846=)
 ClinVar
2g.165386933T>ACA349036686SCN2Ac.4739T>A (p.Leu1580Gln)
c.*3058T>A (n.*3058T>A)
c.*2726T>A (n.*2726T>A)
c.*5262T>A (n.*5262T>A)
c.*2681T>A (n.*2681T>A)
c.4343T>A (p.Leu1448Gln)
n.8170T>A
c.4709T>A (p.Leu1570Gln)
c.3986T>A (p.Leu1329Gln)
c.2537T>A (p.Leu846Gln)
2g.165386933T>CCA349036687SCN2Ac.4739T>C (p.Leu1580Pro)
c.*3058T>C (n.*3058T>C)
c.*2726T>C (n.*2726T>C)
c.*5262T>C (n.*5262T>C)
c.*2681T>C (n.*2681T>C)
c.4343T>C (p.Leu1448Pro)
n.8170T>C
c.4709T>C (p.Leu1570Pro)
c.3986T>C (p.Leu1329Pro)
c.2537T>C (p.Leu846Pro)
2g.165386933T>GCA349036689SCN2Ac.4739T>G (p.Leu1580Arg)
c.*3058T>G (n.*3058T>G)
c.*2726T>G (n.*2726T>G)
c.*5262T>G (n.*5262T>G)
c.*2681T>G (n.*2681T>G)
c.4343T>G (p.Leu1448Arg)
n.8170T>G
c.4709T>G (p.Leu1570Arg)
c.3986T>G (p.Leu1329Arg)
c.2537T>G (p.Leu846Arg)
2g.165386934G>ACA429972431SCN2Ac.4740G>A (p.Leu1580=)
c.*3059G>A (n.*3059G>A)
c.*2727G>A (n.*2727G>A)
c.*5263G>A (n.*5263G>A)
c.*2682G>A (n.*2682G>A)
c.4344G>A (p.Leu1448=)
n.8171G>A
c.4710G>A (p.Leu1570=)
c.3987G>A (p.Leu1329=)
c.2538G>A (p.Leu846=)
2g.165386934G>CCA429972429SCN2Ac.4740G>C (p.Leu1580=)
c.*3059G>C (n.*3059G>C)
c.*2727G>C (n.*2727G>C)
c.*5263G>C (n.*5263G>C)
c.*2682G>C (n.*2682G>C)
c.4344G>C (p.Leu1448=)
n.8171G>C
c.4710G>C (p.Leu1570=)
c.3987G>C (p.Leu1329=)
c.2538G>C (p.Leu846=)
2g.165386934G>TCA429972428SCN2Ac.4740G>T (p.Leu1580=)
c.*3059G>T (n.*3059G>T)
c.*2727G>T (n.*2727G>T)
c.*5263G>T (n.*5263G>T)
c.*2682G>T (n.*2682G>T)
c.4344G>T (p.Leu1448=)
n.8171G>T
c.4710G>T (p.Leu1570=)
c.3987G>T (p.Leu1329=)
c.2538G>T (p.Leu846=)
2g.165386935A=CA1304563808SCN2Ac.4741A= (p.Lys1581=)
c.*3060A= (n.*3060A=)
c.*2728A= (n.*2728A=)
c.*5264A= (n.*5264A=)
c.*2683A= (n.*2683A=)
c.4345A= (p.Lys1449=)
n.8172A=
c.4711A= (p.Lys1571=)
c.3988A= (p.Lys1330=)
c.2539A= (p.Lys847=)
2g.165386935A>CCA349036692SCN2Ac.4741A>C (p.Lys1581Gln)
c.*3060A>C (n.*3060A>C)
c.*2728A>C (n.*2728A>C)
c.*5264A>C (n.*5264A>C)
c.*2683A>C (n.*2683A>C)
c.4345A>C (p.Lys1449Gln)
n.8172A>C
c.4711A>C (p.Lys1571Gln)
c.3988A>C (p.Lys1330Gln)
c.2539A>C (p.Lys847Gln)
2g.165386935A>GCA349036694SCN2Ac.4741A>G (p.Lys1581Glu)
c.*3060A>G (n.*3060A>G)
c.*2728A>G (n.*2728A>G)
c.*5264A>G (n.*5264A>G)
c.*2683A>G (n.*2683A>G)
c.4345A>G (p.Lys1449Glu)
n.8172A>G
c.4711A>G (p.Lys1571Glu)
c.3988A>G (p.Lys1330Glu)
c.2539A>G (p.Lys847Glu)
2g.165386935A>TCA349036691SCN2Ac.4741A>T (p.Lys1581Ter)
c.*3060A>T (n.*3060A>T)
c.*2728A>T (n.*2728A>T)
c.*5264A>T (n.*5264A>T)
c.*2683A>T (n.*2683A>T)
c.4345A>T (p.Lys1449Ter)
n.8172A>T
c.4711A>T (p.Lys1571Ter)
c.3988A>T (p.Lys1330Ter)
c.2539A>T (p.Lys847Ter)
 dbSNP
2g.165386935_165386936insTCA2506734618SCN2Ac.4741_4742insT (p.Lys1581IlefsTer18)
c.*3060_*3061insT (n.*3060_*3061insT)
c.*2728_*2729insT (n.*2728_*2729insT)
c.*5264_*5265insT (n.*5264_*5265insT)
c.*2683_*2684insT (n.*2683_*2684insT)
c.4345_4346insT (p.Lys1449IlefsTer18)
n.8172_8173insT
c.4711_4712insT (p.Lys1571IlefsTer18)
c.3988_3989insT (p.Lys1330IlefsTer18)
c.2539_2540insT (p.Lys847IlefsTer18)
2g.165386936A>CCA349036699SCN2Ac.4742A>C (p.Lys1581Thr)
c.*3061A>C (n.*3061A>C)
c.*2729A>C (n.*2729A>C)
c.*5265A>C (n.*5265A>C)
c.*2684A>C (n.*2684A>C)
c.4346A>C (p.Lys1449Thr)
n.8173A>C
c.4712A>C (p.Lys1571Thr)
c.3989A>C (p.Lys1330Thr)
c.2540A>C (p.Lys847Thr)
2g.165386936A>GCA349036695SCN2Ac.4742A>G (p.Lys1581Arg)
c.*3061A>G (n.*3061A>G)
c.*2729A>G (n.*2729A>G)
c.*5265A>G (n.*5265A>G)
c.*2684A>G (n.*2684A>G)
c.4346A>G (p.Lys1449Arg)
n.8173A>G
c.4712A>G (p.Lys1571Arg)
c.3989A>G (p.Lys1330Arg)
c.2540A>G (p.Lys847Arg)
2g.165386936A>TCA349036697SCN2Ac.4742A>T (p.Lys1581Ile)
c.*3061A>T (n.*3061A>T)
c.*2729A>T (n.*2729A>T)
c.*5265A>T (n.*5265A>T)
c.*2684A>T (n.*2684A>T)
c.4346A>T (p.Lys1449Ile)
n.8173A>T
c.4712A>T (p.Lys1571Ile)
c.3989A>T (p.Lys1330Ile)
c.2540A>T (p.Lys847Ile)
2g.165386936_165386937insTCAAAGACTTGTTTGGTTACAAAATCAAAGCA2546252712SCN2Ac.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg)
c.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG)
c.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG)
c.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG)
c.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG)
c.4346_4347insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1449delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg)
n.8173_8174insTCAAAGACTTGTTTGGTTACAAAATCAAAG
c.4712_4713insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1571delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg)
c.3989_3990insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1330delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg)
c.2540_2541insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys847delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg)
2g.165386937A>CCA349036701SCN2Ac.4743A>C (p.Lys1581Asn)
c.*3062A>C (n.*3062A>C)
c.*2730A>C (n.*2730A>C)
c.*5266A>C (n.*5266A>C)
c.*2685A>C (n.*2685A>C)
c.4347A>C (p.Lys1449Asn)
n.8174A>C
c.4713A>C (p.Lys1571Asn)
c.3990A>C (p.Lys1330Asn)
c.2541A>C (p.Lys847Asn)
2g.165386937A>GCA429972433SCN2Ac.4743A>G (p.Lys1581=)
c.*3062A>G (n.*3062A>G)
c.*2730A>G (n.*2730A>G)
c.*5266A>G (n.*5266A>G)
c.*2685A>G (n.*2685A>G)
c.4347A>G (p.Lys1449=)
n.8174A>G
c.4713A>G (p.Lys1571=)
c.3990A>G (p.Lys1330=)
c.2541A>G (p.Lys847=)
2g.165386937A>TCA349036702SCN2Ac.4743A>T (p.Lys1581Asn)
c.*3062A>T (n.*3062A>T)
c.*2730A>T (n.*2730A>T)
c.*5266A>T (n.*5266A>T)
c.*2685A>T (n.*2685A>T)
c.4347A>T (p.Lys1449Asn)
n.8174A>T
c.4713A>T (p.Lys1571Asn)
c.3990A>T (p.Lys1330Asn)
c.2541A>T (p.Lys847Asn)
2g.165386938C>ACA349036703SCN2Ac.4744C>A (p.Leu1582Met)
c.*3063C>A (n.*3063C>A)
c.*2731C>A (n.*2731C>A)
c.*5267C>A (n.*5267C>A)
c.*2686C>A (n.*2686C>A)
c.4348C>A (p.Leu1450Met)
n.8175C>A
c.4714C>A (p.Leu1572Met)
c.3991C>A (p.Leu1331Met)
c.2542C>A (p.Leu848Met)
2g.165386938C>GCA349036705SCN2Ac.4744C>G (p.Leu1582Val)
c.*3063C>G (n.*3063C>G)
c.*2731C>G (n.*2731C>G)
c.*5267C>G (n.*5267C>G)
c.*2686C>G (n.*2686C>G)
c.4348C>G (p.Leu1450Val)
n.8175C>G
c.4714C>G (p.Leu1572Val)
c.3991C>G (p.Leu1331Val)
c.2542C>G (p.Leu848Val)
2g.165386938C>TCA429972435SCN2Ac.4744C>T (p.Leu1582=)
c.*3063C>T (n.*3063C>T)
c.*2731C>T (n.*2731C>T)
c.*5267C>T (n.*5267C>T)
c.*2686C>T (n.*2686C>T)
c.4348C>T (p.Leu1450=)
n.8175C>T
c.4714C>T (p.Leu1572=)
c.3991C>T (p.Leu1331=)
c.2542C>T (p.Leu848=)
2g.165386939T>ACA349036707SCN2Ac.4745T>A (p.Leu1582Gln)
c.*3064T>A (n.*3064T>A)
c.*2732T>A (n.*2732T>A)
c.*5268T>A (n.*5268T>A)
c.*2687T>A (n.*2687T>A)
c.4349T>A (p.Leu1450Gln)
n.8176T>A
c.4715T>A (p.Leu1572Gln)
c.3992T>A (p.Leu1331Gln)
c.2543T>A (p.Leu848Gln)
2g.165386939T>CCA349036708SCN2Ac.4745T>C (p.Leu1582Pro)
c.*3064T>C (n.*3064T>C)
c.*2732T>C (n.*2732T>C)
c.*5268T>C (n.*5268T>C)
c.*2687T>C (n.*2687T>C)
c.4349T>C (p.Leu1450Pro)
n.8176T>C
c.4715T>C (p.Leu1572Pro)
c.3992T>C (p.Leu1331Pro)
c.2543T>C (p.Leu848Pro)
 ClinVar dbSNP
2g.165386939T>GCA349036710SCN2Ac.4745T>G (p.Leu1582Arg)
c.*3064T>G (n.*3064T>G)
c.*2732T>G (n.*2732T>G)
c.*5268T>G (n.*5268T>G)
c.*2687T>G (n.*2687T>G)
c.4349T>G (p.Leu1450Arg)
n.8176T>G
c.4715T>G (p.Leu1572Arg)
c.3992T>G (p.Leu1331Arg)
c.2543T>G (p.Leu848Arg)
2g.165386939T=CA1304563809SCN2Ac.4745T= (p.Leu1582=)
c.*3064T= (n.*3064T=)
c.*2732T= (n.*2732T=)
c.*5268T= (n.*5268T=)
c.*2687T= (n.*2687T=)
c.4349T= (p.Leu1450=)
n.8176T=
c.4715T= (p.Leu1572=)
c.3992T= (p.Leu1331=)
c.2543T= (p.Leu848=)
2g.165386940G>ACA429972436SCN2Ac.4746G>A (p.Leu1582=)
c.*3065G>A (n.*3065G>A)
c.*2733G>A (n.*2733G>A)
c.*5269G>A (n.*5269G>A)
c.*2688G>A (n.*2688G>A)
c.4350G>A (p.Leu1450=)
n.8177G>A
c.4716G>A (p.Leu1572=)
c.3993G>A (p.Leu1331=)
c.2544G>A (p.Leu848=)
2g.165386940G>CCA429972437SCN2Ac.4746G>C (p.Leu1582=)
c.*3065G>C (n.*3065G>C)
c.*2733G>C (n.*2733G>C)
c.*5269G>C (n.*5269G>C)
c.*2688G>C (n.*2688G>C)
c.4350G>C (p.Leu1450=)
n.8177G>C
c.4716G>C (p.Leu1572=)
c.3993G>C (p.Leu1331=)
c.2544G>C (p.Leu848=)
2g.165386940G>TCA429972438SCN2Ac.4746G>T (p.Leu1582=)
c.*3065G>T (n.*3065G>T)
c.*2733G>T (n.*2733G>T)
c.*5269G>T (n.*5269G>T)
c.*2688G>T (n.*2688G>T)
c.4350G>T (p.Leu1450=)
n.8177G>T
c.4716G>T (p.Leu1572=)
c.3993G>T (p.Leu1331=)
c.2544G>T (p.Leu848=)
2g.165386941A=CA1304563810SCN2Ac.4747A= (p.Ile1583=)
c.*3066A= (n.*3066A=)
c.*2734A= (n.*2734A=)
c.*5270A= (n.*5270A=)
c.*2689A= (n.*2689A=)
c.4351A= (p.Ile1451=)
n.8178A=
c.4717A= (p.Ile1573=)
c.3994A= (p.Ile1332=)
c.2545A= (p.Ile849=)
2g.165386941A>CCA349036712SCN2Ac.4747A>C (p.Ile1583Leu)
c.*3066A>C (n.*3066A>C)
c.*2734A>C (n.*2734A>C)
c.*5270A>C (n.*5270A>C)
c.*2689A>C (n.*2689A>C)
c.4351A>C (p.Ile1451Leu)
n.8178A>C
c.4717A>C (p.Ile1573Leu)
c.3994A>C (p.Ile1332Leu)
c.2545A>C (p.Ile849Leu)
2g.165386941A>GCA349036713SCN2Ac.4747A>G (p.Ile1583Val)
c.*3066A>G (n.*3066A>G)
c.*2734A>G (n.*2734A>G)
c.*5270A>G (n.*5270A>G)
c.*2689A>G (n.*2689A>G)
c.4351A>G (p.Ile1451Val)
n.8178A>G
c.4717A>G (p.Ile1573Val)
c.3994A>G (p.Ile1332Val)
c.2545A>G (p.Ile849Val)
2g.165386941A>TCA349036715SCN2Ac.4747A>T (p.Ile1583Phe)
c.*3066A>T (n.*3066A>T)
c.*2734A>T (n.*2734A>T)
c.*5270A>T (n.*5270A>T)
c.*2689A>T (n.*2689A>T)
c.4351A>T (p.Ile1451Phe)
n.8178A>T
c.4717A>T (p.Ile1573Phe)
c.3994A>T (p.Ile1332Phe)
c.2545A>T (p.Ile849Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.165386942T>ACA349036718SCN2Ac.4748T>A (p.Ile1583Asn)
c.*3067T>A (n.*3067T>A)
c.*2735T>A (n.*2735T>A)
c.*5271T>A (n.*5271T>A)
c.*2690T>A (n.*2690T>A)
c.4352T>A (p.Ile1451Asn)
n.8179T>A
c.4718T>A (p.Ile1573Asn)
c.3995T>A (p.Ile1332Asn)
c.2546T>A (p.Ile849Asn)
2g.165386942T>CCA1940316SCN2Ac.4748T>C (p.Ile1583Thr)
c.*3067T>C (n.*3067T>C)
c.*2735T>C (n.*2735T>C)
c.*5271T>C (n.*5271T>C)
c.*2690T>C (n.*2690T>C)
c.4352T>C (p.Ile1451Thr)
n.8179T>C
c.4718T>C (p.Ile1573Thr)
c.3995T>C (p.Ile1332Thr)
c.2546T>C (p.Ile849Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165386942T>GCA349036717SCN2Ac.4748T>G (p.Ile1583Ser)
c.*3067T>G (n.*3067T>G)
c.*2735T>G (n.*2735T>G)
c.*5271T>G (n.*5271T>G)
c.*2690T>G (n.*2690T>G)
c.4352T>G (p.Ile1451Ser)
n.8179T>G
c.4718T>G (p.Ile1573Ser)
c.3995T>G (p.Ile1332Ser)
c.2546T>G (p.Ile849Ser)
2g.165386942T=CA1304563811SCN2Ac.4748T= (p.Ile1583=)
c.*3067T= (n.*3067T=)
c.*2735T= (n.*2735T=)
c.*5271T= (n.*5271T=)
c.*2690T= (n.*2690T=)
c.4352T= (p.Ile1451=)
n.8179T=
c.4718T= (p.Ile1573=)
c.3995T= (p.Ile1332=)
c.2546T= (p.Ile849=)
2g.165386943C>ACA429972440SCN2Ac.4749C>A (p.Ile1583=)
c.*3068C>A (n.*3068C>A)
c.*2736C>A (n.*2736C>A)
c.*5272C>A (n.*5272C>A)
c.*2691C>A (n.*2691C>A)
c.4353C>A (p.Ile1451=)
n.8180C>A
c.4719C>A (p.Ile1573=)
c.3996C>A (p.Ile1332=)
c.2547C>A (p.Ile849=)
2g.165386943C>GCA349036720SCN2Ac.4749C>G (p.Ile1583Met)
c.*3068C>G (n.*3068C>G)
c.*2736C>G (n.*2736C>G)
c.*5272C>G (n.*5272C>G)
c.*2691C>G (n.*2691C>G)
c.4353C>G (p.Ile1451Met)
n.8180C>G
c.4719C>G (p.Ile1573Met)
c.3996C>G (p.Ile1332Met)
c.2547C>G (p.Ile849Met)
2g.165386943C>TCA429972441SCN2Ac.4749C>T (p.Ile1583=)
c.*3068C>T (n.*3068C>T)
c.*2736C>T (n.*2736C>T)
c.*5272C>T (n.*5272C>T)
c.*2691C>T (n.*2691C>T)
c.4353C>T (p.Ile1451=)
n.8180C>T
c.4719C>T (p.Ile1573=)
c.3996C>T (p.Ile1332=)
c.2547C>T (p.Ile849=)
2g.165386944T>ACA349036722SCN2Ac.4750T>A (p.Ser1584Thr)
c.*3069T>A (n.*3069T>A)
c.*2737T>A (n.*2737T>A)
c.*5273T>A (n.*5273T>A)
c.*2692T>A (n.*2692T>A)
c.4354T>A (p.Ser1452Thr)
n.8181T>A
c.4720T>A (p.Ser1574Thr)
c.3997T>A (p.Ser1333Thr)
c.2548T>A (p.Ser850Thr)
2g.165386944T>CCA349036723SCN2Ac.4750T>C (p.Ser1584Pro)
c.*3069T>C (n.*3069T>C)
c.*2737T>C (n.*2737T>C)
c.*5273T>C (n.*5273T>C)
c.*2692T>C (n.*2692T>C)
c.4354T>C (p.Ser1452Pro)
n.8181T>C
c.4720T>C (p.Ser1574Pro)
c.3997T>C (p.Ser1333Pro)
c.2548T>C (p.Ser850Pro)
2g.165386944T>GCA349036725SCN2Ac.4750T>G (p.Ser1584Ala)
c.*3069T>G (n.*3069T>G)
c.*2737T>G (n.*2737T>G)
c.*5273T>G (n.*5273T>G)
c.*2692T>G (n.*2692T>G)
c.4354T>G (p.Ser1452Ala)
n.8181T>G
c.4720T>G (p.Ser1574Ala)
c.3997T>G (p.Ser1333Ala)
c.2548T>G (p.Ser850Ala)
2g.165386945C>ACA349036727SCN2Ac.4751C>A (p.Ser1584Tyr)
c.*3070C>A (n.*3070C>A)
c.*2738C>A (n.*2738C>A)
c.*5274C>A (n.*5274C>A)
c.*2693C>A (n.*2693C>A)
c.4355C>A (p.Ser1452Tyr)
n.8182C>A
c.4721C>A (p.Ser1574Tyr)
c.3998C>A (p.Ser1333Tyr)
c.2549C>A (p.Ser850Tyr)
2g.165386945C=CA1304563812SCN2Ac.4751C= (p.Ser1584=)
c.*3070C= (n.*3070C=)
c.*2738C= (n.*2738C=)
c.*5274C= (n.*5274C=)
c.*2693C= (n.*2693C=)
c.4355C= (p.Ser1452=)
n.8182C=
c.4721C= (p.Ser1574=)
c.3998C= (p.Ser1333=)
c.2549C= (p.Ser850=)
2g.165386945C>GCA349036728SCN2Ac.4751C>G (p.Ser1584Cys)
c.*3070C>G (n.*3070C>G)
c.*2738C>G (n.*2738C>G)
c.*5274C>G (n.*5274C>G)
c.*2693C>G (n.*2693C>G)
c.4355C>G (p.Ser1452Cys)
n.8182C>G
c.4721C>G (p.Ser1574Cys)
c.3998C>G (p.Ser1333Cys)
c.2549C>G (p.Ser850Cys)
 gnomAD v4
2g.165386945C>TCA318006SCN2Ac.4751C>T (p.Ser1584Phe)
c.*3070C>T (n.*3070C>T)
c.*2738C>T (n.*2738C>T)
c.*5274C>T (n.*5274C>T)
c.*2693C>T (n.*2693C>T)
c.4355C>T (p.Ser1452Phe)
n.8182C>T
c.4721C>T (p.Ser1574Phe)
c.3998C>T (p.Ser1333Phe)
c.2549C>T (p.Ser850Phe)
 dbSNP COSMIC COSMIC
2g.165386946delCA2580064478SCN2Ac.4752del (p.Leu1585PhefsTer23)
c.*3071del (n.*3071del)
c.*2739del (n.*2739del)
c.*5275del (n.*5275del)
c.*2694del (n.*2694del)
c.4356del (p.Leu1453PhefsTer23)
n.8183del
c.4722del (p.Leu1575PhefsTer23)
c.3999del (p.Leu1334PhefsTer23)
c.2550del (p.Leu851PhefsTer23)
 ClinVar
2g.165386946T>ACA429972443SCN2Ac.4752T>A (p.Ser1584=)
c.*3071T>A (n.*3071T>A)
c.*2739T>A (n.*2739T>A)
c.*5275T>A (n.*5275T>A)
c.*2694T>A (n.*2694T>A)
c.4356T>A (p.Ser1452=)
n.8183T>A
c.4722T>A (p.Ser1574=)
c.3999T>A (p.Ser1333=)
c.2550T>A (p.Ser850=)
2g.165386946T>CCA429972444SCN2Ac.4752T>C (p.Ser1584=)
c.*3071T>C (n.*3071T>C)
c.*2739T>C (n.*2739T>C)
c.*5275T>C (n.*5275T>C)
c.*2694T>C (n.*2694T>C)
c.4356T>C (p.Ser1452=)
n.8183T>C
c.4722T>C (p.Ser1574=)
c.3999T>C (p.Ser1333=)
c.2550T>C (p.Ser850=)
2g.165386946T>GCA429972445SCN2Ac.4752T>G (p.Ser1584=)
c.*3071T>G (n.*3071T>G)
c.*2739T>G (n.*2739T>G)
c.*5275T>G (n.*5275T>G)
c.*2694T>G (n.*2694T>G)
c.4356T>G (p.Ser1452=)
n.8183T>G
c.4722T>G (p.Ser1574=)
c.3999T>G (p.Ser1333=)
c.2550T>G (p.Ser850=)
2g.165386947C>ACA349036730SCN2Ac.4753C>A (p.Leu1585Ile)
c.*3072C>A (n.*3072C>A)
c.*2740C>A (n.*2740C>A)
c.*5276C>A (n.*5276C>A)
c.*2695C>A (n.*2695C>A)
c.4357C>A (p.Leu1453Ile)
n.8184C>A
c.4723C>A (p.Leu1575Ile)
c.4000C>A (p.Leu1334Ile)
c.2551C>A (p.Leu851Ile)
2g.165386947C=CA1304563813SCN2Ac.4753C= (p.Leu1585=)
c.*3072C= (n.*3072C=)
c.*2740C= (n.*2740C=)
c.*5276C= (n.*5276C=)
c.*2695C= (n.*2695C=)
c.4357C= (p.Leu1453=)
n.8184C=
c.4723C= (p.Leu1575=)
c.4000C= (p.Leu1334=)
c.2551C= (p.Leu851=)
2g.165386947C>GCA349036732SCN2Ac.4753C>G (p.Leu1585Val)
c.*3072C>G (n.*3072C>G)
c.*2740C>G (n.*2740C>G)
c.*5276C>G (n.*5276C>G)
c.*2695C>G (n.*2695C>G)
c.4357C>G (p.Leu1453Val)
n.8184C>G
c.4723C>G (p.Leu1575Val)
c.4000C>G (p.Leu1334Val)
c.2551C>G (p.Leu851Val)
2g.165386947C>TCA349036733SCN2Ac.4753C>T (p.Leu1585Phe)
c.*3072C>T (n.*3072C>T)
c.*2740C>T (n.*2740C>T)
c.*5276C>T (n.*5276C>T)
c.*2695C>T (n.*2695C>T)
c.4357C>T (p.Leu1453Phe)
n.8184C>T
c.4723C>T (p.Leu1575Phe)
c.4000C>T (p.Leu1334Phe)
c.2551C>T (p.Leu851Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.165386948T>ACA349036735SCN2Ac.4754T>A (p.Leu1585His)
c.*3073T>A (n.*3073T>A)
c.*2741T>A (n.*2741T>A)
c.*5277T>A (n.*5277T>A)
c.*2696T>A (n.*2696T>A)
c.4358T>A (p.Leu1453His)
n.8185T>A
c.4724T>A (p.Leu1575His)
c.4001T>A (p.Leu1334His)
c.2552T>A (p.Leu851His)
2g.165386948T>CCA349036736SCN2Ac.4754T>C (p.Leu1585Pro)
c.*3073T>C (n.*3073T>C)
c.*2741T>C (n.*2741T>C)
c.*5277T>C (n.*5277T>C)
c.*2696T>C (n.*2696T>C)
c.4358T>C (p.Leu1453Pro)
n.8185T>C
c.4724T>C (p.Leu1575Pro)
c.4001T>C (p.Leu1334Pro)
c.2552T>C (p.Leu851Pro)
2g.165386948T>GCA349036738SCN2Ac.4754T>G (p.Leu1585Arg)
c.*3073T>G (n.*3073T>G)
c.*2741T>G (n.*2741T>G)
c.*5277T>G (n.*5277T>G)
c.*2696T>G (n.*2696T>G)
c.4358T>G (p.Leu1453Arg)
n.8185T>G
c.4724T>G (p.Leu1575Arg)
c.4001T>G (p.Leu1334Arg)
c.2552T>G (p.Leu851Arg)
2g.165386949T>ACA429972448SCN2Ac.4755T>A (p.Leu1585=)
c.*3074T>A (n.*3074T>A)
c.*2742T>A (n.*2742T>A)
c.*5278T>A (n.*5278T>A)
c.*2697T>A (n.*2697T>A)
c.4359T>A (p.Leu1453=)
n.8186T>A
c.4725T>A (p.Leu1575=)
c.4002T>A (p.Leu1334=)
c.2553T>A (p.Leu851=)
2g.165386949T>CCA429972449SCN2Ac.4755T>C (p.Leu1585=)
c.*3074T>C (n.*3074T>C)
c.*2742T>C (n.*2742T>C)
c.*5278T>C (n.*5278T>C)
c.*2697T>C (n.*2697T>C)
c.4359T>C (p.Leu1453=)
n.8186T>C
c.4725T>C (p.Leu1575=)
c.4002T>C (p.Leu1334=)
c.2553T>C (p.Leu851=)
 gnomAD v4
2g.165386949T>GCA429972450SCN2Ac.4755T>G (p.Leu1585=)
c.*3074T>G (n.*3074T>G)
c.*2742T>G (n.*2742T>G)
c.*5278T>G (n.*5278T>G)
c.*2697T>G (n.*2697T>G)
c.4359T>G (p.Leu1453=)
n.8186T>G
c.4725T>G (p.Leu1575=)
c.4002T>G (p.Leu1334=)
c.2553T>G (p.Leu851=)
 gnomAD v4
2g.165386950C>ACA349036741SCN2Ac.4756C>A (p.Arg1586Ser)
c.*3075C>A (n.*3075C>A)
c.*2743C>A (n.*2743C>A)
c.*5279C>A (n.*5279C>A)
c.*2698C>A (n.*2698C>A)
c.4360C>A (p.Arg1454Ser)
n.8187C>A
c.4726C>A (p.Arg1576Ser)
c.4003C>A (p.Arg1335Ser)
c.2554C>A (p.Arg852Ser)
2g.165386950C>GCA349036742SCN2Ac.4756C>G (p.Arg1586Gly)
c.*3075C>G (n.*3075C>G)
c.*2743C>G (n.*2743C>G)
c.*5279C>G (n.*5279C>G)
c.*2698C>G (n.*2698C>G)
c.4360C>G (p.Arg1454Gly)
n.8187C>G
c.4726C>G (p.Arg1576Gly)
c.4003C>G (p.Arg1335Gly)
c.2554C>G (p.Arg852Gly)
2g.165386950C>TCA349036739SCN2Ac.4756C>T (p.Arg1586Cys)
c.*3075C>T (n.*3075C>T)
c.*2743C>T (n.*2743C>T)
c.*5279C>T (n.*5279C>T)
c.*2698C>T (n.*2698C>T)
c.4360C>T (p.Arg1454Cys)
n.8187C>T
c.4726C>T (p.Arg1576Cys)
c.4003C>T (p.Arg1335Cys)
c.2554C>T (p.Arg852Cys)
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched