Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219489074G>ACA2127427ASIC4-AS1,SPEGc.8170G>A (p.Val2724Met)
n.7413G>A
c.7888G>A (p.Val2630Met)
c.5794G>A (p.Val1932Met)
c.5623G>A (p.Val1875Met)
c.5809G>A (p.Val1937Met)
c.7858G>A (p.Val2620Met)
c.8200G>A (p.Val2734Met)
c.8032G>A (p.Val2678Met)
c.8023G>A (p.Val2675Met)
c.8017G>A (p.Val2673Met)
c.7939G>A (p.Val2647Met)
c.7855G>A (p.Val2619Met)
n.353-6665C>T
c.7918G>A (p.Val2640Met)
c.3178G>A (p.Val1060Met)
n.392-6665C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489074G>CCA350708550ASIC4-AS1,SPEGc.8170G>C (p.Val2724Leu)
n.7413G>C
c.7888G>C (p.Val2630Leu)
c.5794G>C (p.Val1932Leu)
c.5623G>C (p.Val1875Leu)
c.5809G>C (p.Val1937Leu)
c.7858G>C (p.Val2620Leu)
c.8200G>C (p.Val2734Leu)
c.8032G>C (p.Val2678Leu)
c.8023G>C (p.Val2675Leu)
c.8017G>C (p.Val2673Leu)
c.7939G>C (p.Val2647Leu)
c.7855G>C (p.Val2619Leu)
n.353-6665C>G
c.7918G>C (p.Val2640Leu)
c.3178G>C (p.Val1060Leu)
n.392-6665C>G
2g.219489074G=CA1329242188ASIC4-AS1,SPEGc.8170G= (p.Val2724=)
n.7413G=
c.7888G= (p.Val2630=)
c.5794G= (p.Val1932=)
c.5623G= (p.Val1875=)
c.5809G= (p.Val1937=)
c.7858G= (p.Val2620=)
c.8200G= (p.Val2734=)
c.8032G= (p.Val2678=)
c.8023G= (p.Val2675=)
c.8017G= (p.Val2673=)
c.7939G= (p.Val2647=)
c.7855G= (p.Val2619=)
n.353-6665C=
c.7918G= (p.Val2640=)
c.3178G= (p.Val1060=)
n.392-6665C=
2g.219489074G>TCA350708549ASIC4-AS1,SPEGc.8170G>T (p.Val2724Leu)
n.7413G>T
c.7888G>T (p.Val2630Leu)
c.5794G>T (p.Val1932Leu)
c.5623G>T (p.Val1875Leu)
c.5809G>T (p.Val1937Leu)
c.7858G>T (p.Val2620Leu)
c.8200G>T (p.Val2734Leu)
c.8032G>T (p.Val2678Leu)
c.8023G>T (p.Val2675Leu)
c.8017G>T (p.Val2673Leu)
c.7939G>T (p.Val2647Leu)
c.7855G>T (p.Val2619Leu)
n.353-6665C>A
c.7918G>T (p.Val2640Leu)
c.3178G>T (p.Val1060Leu)
n.392-6665C>A
2g.219489075T>ACA350708554ASIC4-AS1,SPEGc.8171T>A (p.Val2724Glu)
n.7414T>A
c.7889T>A (p.Val2630Glu)
c.5795T>A (p.Val1932Glu)
c.5624T>A (p.Val1875Glu)
c.5810T>A (p.Val1937Glu)
c.7859T>A (p.Val2620Glu)
c.8201T>A (p.Val2734Glu)
c.8033T>A (p.Val2678Glu)
c.8024T>A (p.Val2675Glu)
c.8018T>A (p.Val2673Glu)
c.7940T>A (p.Val2647Glu)
c.7856T>A (p.Val2619Glu)
n.353-6666A>T
c.7919T>A (p.Val2640Glu)
c.3179T>A (p.Val1060Glu)
n.392-6666A>T
2g.219489075T>CCA350708552ASIC4-AS1,SPEGc.8171T>C (p.Val2724Ala)
n.7414T>C
c.7889T>C (p.Val2630Ala)
c.5795T>C (p.Val1932Ala)
c.5624T>C (p.Val1875Ala)
c.5810T>C (p.Val1937Ala)
c.7859T>C (p.Val2620Ala)
c.8201T>C (p.Val2734Ala)
c.8033T>C (p.Val2678Ala)
c.8024T>C (p.Val2675Ala)
c.8018T>C (p.Val2673Ala)
c.7940T>C (p.Val2647Ala)
c.7856T>C (p.Val2619Ala)
n.353-6666A>G
c.7919T>C (p.Val2640Ala)
c.3179T>C (p.Val1060Ala)
n.392-6666A>G
2g.219489075T>GCA350708556ASIC4-AS1,SPEGc.8171T>G (p.Val2724Gly)
n.7414T>G
c.7889T>G (p.Val2630Gly)
c.5795T>G (p.Val1932Gly)
c.5624T>G (p.Val1875Gly)
c.5810T>G (p.Val1937Gly)
c.7859T>G (p.Val2620Gly)
c.8201T>G (p.Val2734Gly)
c.8033T>G (p.Val2678Gly)
c.8024T>G (p.Val2675Gly)
c.8018T>G (p.Val2673Gly)
c.7940T>G (p.Val2647Gly)
c.7856T>G (p.Val2619Gly)
n.353-6666A>C
c.7919T>G (p.Val2640Gly)
c.3179T>G (p.Val1060Gly)
n.392-6666A>C
 gnomAD v4
2g.219489076G>ACA431431266ASIC4-AS1,SPEGc.8172G>A (p.Val2724=)
n.7415G>A
c.7890G>A (p.Val2630=)
c.5796G>A (p.Val1932=)
c.5625G>A (p.Val1875=)
c.5811G>A (p.Val1937=)
c.7860G>A (p.Val2620=)
c.8202G>A (p.Val2734=)
c.8034G>A (p.Val2678=)
c.8025G>A (p.Val2675=)
c.8019G>A (p.Val2673=)
c.7941G>A (p.Val2647=)
c.7857G>A (p.Val2619=)
n.353-6667C>T
c.7920G>A (p.Val2640=)
c.3180G>A (p.Val1060=)
n.392-6667C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219489076G>CCA431431267ASIC4-AS1,SPEGc.8172G>C (p.Val2724=)
n.7415G>C
c.7890G>C (p.Val2630=)
c.5796G>C (p.Val1932=)
c.5625G>C (p.Val1875=)
c.5811G>C (p.Val1937=)
c.7860G>C (p.Val2620=)
c.8202G>C (p.Val2734=)
c.8034G>C (p.Val2678=)
c.8025G>C (p.Val2675=)
c.8019G>C (p.Val2673=)
c.7941G>C (p.Val2647=)
c.7857G>C (p.Val2619=)
n.353-6667C>G
c.7920G>C (p.Val2640=)
c.3180G>C (p.Val1060=)
n.392-6667C>G
2g.219489076G=CA1329242189ASIC4-AS1,SPEGc.8172G= (p.Val2724=)
n.7415G=
c.7890G= (p.Val2630=)
c.5796G= (p.Val1932=)
c.5625G= (p.Val1875=)
c.5811G= (p.Val1937=)
c.7860G= (p.Val2620=)
c.8202G= (p.Val2734=)
c.8034G= (p.Val2678=)
c.8025G= (p.Val2675=)
c.8019G= (p.Val2673=)
c.7941G= (p.Val2647=)
c.7857G= (p.Val2619=)
n.353-6667C=
c.7920G= (p.Val2640=)
c.3180G= (p.Val1060=)
n.392-6667C=
2g.219489076G>TCA431431268ASIC4-AS1,SPEGc.8172G>T (p.Val2724=)
n.7415G>T
c.7890G>T (p.Val2630=)
c.5796G>T (p.Val1932=)
c.5625G>T (p.Val1875=)
c.5811G>T (p.Val1937=)
c.7860G>T (p.Val2620=)
c.8202G>T (p.Val2734=)
c.8034G>T (p.Val2678=)
c.8025G>T (p.Val2675=)
c.8019G>T (p.Val2673=)
c.7941G>T (p.Val2647=)
c.7857G>T (p.Val2619=)
n.353-6667C>A
c.7920G>T (p.Val2640=)
c.3180G>T (p.Val1060=)
n.392-6667C>A
2g.219489077A>CCA350708557ASIC4-AS1,SPEGc.8173A>C (p.Ser2725Arg)
n.7416A>C
c.7891A>C (p.Ser2631Arg)
c.5797A>C (p.Ser1933Arg)
c.5626A>C (p.Ser1876Arg)
c.5812A>C (p.Ser1938Arg)
c.7861A>C (p.Ser2621Arg)
c.8203A>C (p.Ser2735Arg)
c.8035A>C (p.Ser2679Arg)
c.8026A>C (p.Ser2676Arg)
c.8020A>C (p.Ser2674Arg)
c.7942A>C (p.Ser2648Arg)
c.7858A>C (p.Ser2620Arg)
n.353-6668T>G
c.7921A>C (p.Ser2641Arg)
c.3181A>C (p.Ser1061Arg)
n.392-6668T>G
2g.219489077A>GCA350708561ASIC4-AS1,SPEGc.8173A>G (p.Ser2725Gly)
n.7416A>G
c.7891A>G (p.Ser2631Gly)
c.5797A>G (p.Ser1933Gly)
c.5626A>G (p.Ser1876Gly)
c.5812A>G (p.Ser1938Gly)
c.7861A>G (p.Ser2621Gly)
c.8203A>G (p.Ser2735Gly)
c.8035A>G (p.Ser2679Gly)
c.8026A>G (p.Ser2676Gly)
c.8020A>G (p.Ser2674Gly)
c.7942A>G (p.Ser2648Gly)
c.7858A>G (p.Ser2620Gly)
n.353-6668T>C
c.7921A>G (p.Ser2641Gly)
c.3181A>G (p.Ser1061Gly)
n.392-6668T>C
2g.219489077A>TCA350708559ASIC4-AS1,SPEGc.8173A>T (p.Ser2725Cys)
n.7416A>T
c.7891A>T (p.Ser2631Cys)
c.5797A>T (p.Ser1933Cys)
c.5626A>T (p.Ser1876Cys)
c.5812A>T (p.Ser1938Cys)
c.7861A>T (p.Ser2621Cys)
c.8203A>T (p.Ser2735Cys)
c.8035A>T (p.Ser2679Cys)
c.8026A>T (p.Ser2676Cys)
c.8020A>T (p.Ser2674Cys)
c.7942A>T (p.Ser2648Cys)
c.7858A>T (p.Ser2620Cys)
n.353-6668T>A
c.7921A>T (p.Ser2641Cys)
c.3181A>T (p.Ser1061Cys)
n.392-6668T>A
2g.219489078G>ACA350708563ASIC4-AS1,SPEGc.8174G>A (p.Ser2725Asn)
n.7417G>A
c.7892G>A (p.Ser2631Asn)
c.5798G>A (p.Ser1933Asn)
c.5627G>A (p.Ser1876Asn)
c.5813G>A (p.Ser1938Asn)
c.7862G>A (p.Ser2621Asn)
c.8204G>A (p.Ser2735Asn)
c.8036G>A (p.Ser2679Asn)
c.8027G>A (p.Ser2676Asn)
c.8021G>A (p.Ser2674Asn)
c.7943G>A (p.Ser2648Asn)
c.7859G>A (p.Ser2620Asn)
n.353-6669C>T
c.7922G>A (p.Ser2641Asn)
c.3182G>A (p.Ser1061Asn)
n.392-6669C>T
 dbSNP gnomAD v4
2g.219489078G>CCA350708564ASIC4-AS1,SPEGc.8174G>C (p.Ser2725Thr)
n.7417G>C
c.7892G>C (p.Ser2631Thr)
c.5798G>C (p.Ser1933Thr)
c.5627G>C (p.Ser1876Thr)
c.5813G>C (p.Ser1938Thr)
c.7862G>C (p.Ser2621Thr)
c.8204G>C (p.Ser2735Thr)
c.8036G>C (p.Ser2679Thr)
c.8027G>C (p.Ser2676Thr)
c.8021G>C (p.Ser2674Thr)
c.7943G>C (p.Ser2648Thr)
c.7859G>C (p.Ser2620Thr)
n.353-6669C>G
c.7922G>C (p.Ser2641Thr)
c.3182G>C (p.Ser1061Thr)
n.392-6669C>G
2g.219489078G=CA1329242190ASIC4-AS1,SPEGc.8174G= (p.Ser2725=)
n.7417G=
c.7892G= (p.Ser2631=)
c.5798G= (p.Ser1933=)
c.5627G= (p.Ser1876=)
c.5813G= (p.Ser1938=)
c.7862G= (p.Ser2621=)
c.8204G= (p.Ser2735=)
c.8036G= (p.Ser2679=)
c.8027G= (p.Ser2676=)
c.8021G= (p.Ser2674=)
c.7943G= (p.Ser2648=)
c.7859G= (p.Ser2620=)
n.353-6669C=
c.7922G= (p.Ser2641=)
c.3182G= (p.Ser1061=)
n.392-6669C=
2g.219489078G>TCA350708565ASIC4-AS1,SPEGc.8174G>T (p.Ser2725Ile)
n.7417G>T
c.7892G>T (p.Ser2631Ile)
c.5798G>T (p.Ser1933Ile)
c.5627G>T (p.Ser1876Ile)
c.5813G>T (p.Ser1938Ile)
c.7862G>T (p.Ser2621Ile)
c.8204G>T (p.Ser2735Ile)
c.8036G>T (p.Ser2679Ile)
c.8027G>T (p.Ser2676Ile)
c.8021G>T (p.Ser2674Ile)
c.7943G>T (p.Ser2648Ile)
c.7859G>T (p.Ser2620Ile)
n.353-6669C>A
c.7922G>T (p.Ser2641Ile)
c.3182G>T (p.Ser1061Ile)
n.392-6669C>A
2g.219489079C>ACA350708567ASIC4-AS1,SPEGc.8175C>A (p.Ser2725Arg)
n.7418C>A
c.7893C>A (p.Ser2631Arg)
c.5799C>A (p.Ser1933Arg)
c.5628C>A (p.Ser1876Arg)
c.5814C>A (p.Ser1938Arg)
c.7863C>A (p.Ser2621Arg)
c.8205C>A (p.Ser2735Arg)
c.8037C>A (p.Ser2679Arg)
c.8028C>A (p.Ser2676Arg)
c.8022C>A (p.Ser2674Arg)
c.7944C>A (p.Ser2648Arg)
c.7860C>A (p.Ser2620Arg)
n.353-6670G>T
c.7923C>A (p.Ser2641Arg)
c.3183C>A (p.Ser1061Arg)
n.392-6670G>T
2g.219489079C=CA1329242191ASIC4-AS1,SPEGc.8175C= (p.Ser2725=)
n.7418C=
c.7893C= (p.Ser2631=)
c.5799C= (p.Ser1933=)
c.5628C= (p.Ser1876=)
c.5814C= (p.Ser1938=)
c.7863C= (p.Ser2621=)
c.8205C= (p.Ser2735=)
c.8037C= (p.Ser2679=)
c.8028C= (p.Ser2676=)
c.8022C= (p.Ser2674=)
c.7944C= (p.Ser2648=)
c.7860C= (p.Ser2620=)
n.353-6670G=
c.7923C= (p.Ser2641=)
c.3183C= (p.Ser1061=)
n.392-6670G=
2g.219489079C>GCA350708569ASIC4-AS1,SPEGc.8175C>G (p.Ser2725Arg)
n.7418C>G
c.7893C>G (p.Ser2631Arg)
c.5799C>G (p.Ser1933Arg)
c.5628C>G (p.Ser1876Arg)
c.5814C>G (p.Ser1938Arg)
c.7863C>G (p.Ser2621Arg)
c.8205C>G (p.Ser2735Arg)
c.8037C>G (p.Ser2679Arg)
c.8028C>G (p.Ser2676Arg)
c.8022C>G (p.Ser2674Arg)
c.7944C>G (p.Ser2648Arg)
c.7860C>G (p.Ser2620Arg)
n.353-6670G>C
c.7923C>G (p.Ser2641Arg)
c.3183C>G (p.Ser1061Arg)
n.392-6670G>C
2g.219489079C>TCA431431270ASIC4-AS1,SPEGc.8175C>T (p.Ser2725=)
n.7418C>T
c.7893C>T (p.Ser2631=)
c.5799C>T (p.Ser1933=)
c.5628C>T (p.Ser1876=)
c.5814C>T (p.Ser1938=)
c.7863C>T (p.Ser2621=)
c.8205C>T (p.Ser2735=)
c.8037C>T (p.Ser2679=)
c.8028C>T (p.Ser2676=)
c.8022C>T (p.Ser2674=)
c.7944C>T (p.Ser2648=)
c.7860C>T (p.Ser2620=)
n.353-6670G>A
c.7923C>T (p.Ser2641=)
c.3183C>T (p.Ser1061=)
n.392-6670G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489080T>ACA350708571ASIC4-AS1,SPEGc.8176T>A (p.Ser2726Thr)
n.7419T>A
c.7894T>A (p.Ser2632Thr)
c.5800T>A (p.Ser1934Thr)
c.5629T>A (p.Ser1877Thr)
c.5815T>A (p.Ser1939Thr)
c.7864T>A (p.Ser2622Thr)
c.8206T>A (p.Ser2736Thr)
c.8038T>A (p.Ser2680Thr)
c.8029T>A (p.Ser2677Thr)
c.8023T>A (p.Ser2675Thr)
c.7945T>A (p.Ser2649Thr)
c.7861T>A (p.Ser2621Thr)
n.353-6671A>T
c.7924T>A (p.Ser2642Thr)
c.3184T>A (p.Ser1062Thr)
n.392-6671A>T
2g.219489080T>CCA350708572ASIC4-AS1,SPEGc.8176T>C (p.Ser2726Pro)
n.7419T>C
c.7894T>C (p.Ser2632Pro)
c.5800T>C (p.Ser1934Pro)
c.5629T>C (p.Ser1877Pro)
c.5815T>C (p.Ser1939Pro)
c.7864T>C (p.Ser2622Pro)
c.8206T>C (p.Ser2736Pro)
c.8038T>C (p.Ser2680Pro)
c.8029T>C (p.Ser2677Pro)
c.8023T>C (p.Ser2675Pro)
c.7945T>C (p.Ser2649Pro)
c.7861T>C (p.Ser2621Pro)
n.353-6671A>G
c.7924T>C (p.Ser2642Pro)
c.3184T>C (p.Ser1062Pro)
n.392-6671A>G
2g.219489080T>GCA350708573ASIC4-AS1,SPEGc.8176T>G (p.Ser2726Ala)
n.7419T>G
c.7894T>G (p.Ser2632Ala)
c.5800T>G (p.Ser1934Ala)
c.5629T>G (p.Ser1877Ala)
c.5815T>G (p.Ser1939Ala)
c.7864T>G (p.Ser2622Ala)
c.8206T>G (p.Ser2736Ala)
c.8038T>G (p.Ser2680Ala)
c.8029T>G (p.Ser2677Ala)
c.8023T>G (p.Ser2675Ala)
c.7945T>G (p.Ser2649Ala)
c.7861T>G (p.Ser2621Ala)
n.353-6671A>C
c.7924T>G (p.Ser2642Ala)
c.3184T>G (p.Ser1062Ala)
n.392-6671A>C
2g.219489081C>ACA350708574ASIC4-AS1,SPEGc.8177C>A (p.Ser2726Ter)
n.7420C>A
c.7895C>A (p.Ser2632Ter)
c.5801C>A (p.Ser1934Ter)
c.5630C>A (p.Ser1877Ter)
c.5816C>A (p.Ser1939Ter)
c.7865C>A (p.Ser2622Ter)
c.8207C>A (p.Ser2736Ter)
c.8039C>A (p.Ser2680Ter)
c.8030C>A (p.Ser2677Ter)
c.8024C>A (p.Ser2675Ter)
c.7946C>A (p.Ser2649Ter)
c.7862C>A (p.Ser2621Ter)
n.353-6672G>T
c.7925C>A (p.Ser2642Ter)
c.3185C>A (p.Ser1062Ter)
n.392-6672G>T
2g.219489081C>GCA350708575ASIC4-AS1,SPEGc.8177C>G (p.Ser2726Ter)
n.7420C>G
c.7895C>G (p.Ser2632Ter)
c.5801C>G (p.Ser1934Ter)
c.5630C>G (p.Ser1877Ter)
c.5816C>G (p.Ser1939Ter)
c.7865C>G (p.Ser2622Ter)
c.8207C>G (p.Ser2736Ter)
c.8039C>G (p.Ser2680Ter)
c.8030C>G (p.Ser2677Ter)
c.8024C>G (p.Ser2675Ter)
c.7946C>G (p.Ser2649Ter)
c.7862C>G (p.Ser2621Ter)
n.353-6672G>C
c.7925C>G (p.Ser2642Ter)
c.3185C>G (p.Ser1062Ter)
n.392-6672G>C
 COSMIC
2g.219489081C>TCA350708576ASIC4-AS1,SPEGc.8177C>T (p.Ser2726Leu)
n.7420C>T
c.7895C>T (p.Ser2632Leu)
c.5801C>T (p.Ser1934Leu)
c.5630C>T (p.Ser1877Leu)
c.5816C>T (p.Ser1939Leu)
c.7865C>T (p.Ser2622Leu)
c.8207C>T (p.Ser2736Leu)
c.8039C>T (p.Ser2680Leu)
c.8030C>T (p.Ser2677Leu)
c.8024C>T (p.Ser2675Leu)
c.7946C>T (p.Ser2649Leu)
c.7862C>T (p.Ser2621Leu)
n.353-6672G>A
c.7925C>T (p.Ser2642Leu)
c.3185C>T (p.Ser1062Leu)
n.392-6672G>A
2g.219489082A>CCA431431276ASIC4-AS1,SPEGc.8178A>C (p.Ser2726=)
n.7421A>C
c.7896A>C (p.Ser2632=)
c.5802A>C (p.Ser1934=)
c.5631A>C (p.Ser1877=)
c.5817A>C (p.Ser1939=)
c.7866A>C (p.Ser2622=)
c.8208A>C (p.Ser2736=)
c.8040A>C (p.Ser2680=)
c.8031A>C (p.Ser2677=)
c.8025A>C (p.Ser2675=)
c.7947A>C (p.Ser2649=)
c.7863A>C (p.Ser2621=)
n.353-6673T>G
c.7926A>C (p.Ser2642=)
c.3186A>C (p.Ser1062=)
n.392-6673T>G
2g.219489082A>GCA431431279ASIC4-AS1,SPEGc.8178A>G (p.Ser2726=)
n.7421A>G
c.7896A>G (p.Ser2632=)
c.5802A>G (p.Ser1934=)
c.5631A>G (p.Ser1877=)
c.5817A>G (p.Ser1939=)
c.7866A>G (p.Ser2622=)
c.8208A>G (p.Ser2736=)
c.8040A>G (p.Ser2680=)
c.8031A>G (p.Ser2677=)
c.8025A>G (p.Ser2675=)
c.7947A>G (p.Ser2649=)
c.7863A>G (p.Ser2621=)
n.353-6673T>C
c.7926A>G (p.Ser2642=)
c.3186A>G (p.Ser1062=)
n.392-6673T>C
2g.219489082A>TCA431431277ASIC4-AS1,SPEGc.8178A>T (p.Ser2726=)
n.7421A>T
c.7896A>T (p.Ser2632=)
c.5802A>T (p.Ser1934=)
c.5631A>T (p.Ser1877=)
c.5817A>T (p.Ser1939=)
c.7866A>T (p.Ser2622=)
c.8208A>T (p.Ser2736=)
c.8040A>T (p.Ser2680=)
c.8031A>T (p.Ser2677=)
c.8025A>T (p.Ser2675=)
c.7947A>T (p.Ser2649=)
c.7863A>T (p.Ser2621=)
n.353-6673T>A
c.7926A>T (p.Ser2642=)
c.3186A>T (p.Ser1062=)
n.392-6673T>A
2g.219489083G>ACA350708579ASIC4-AS1,SPEGc.8179G>A (p.Gly2727Ser)
n.7422G>A
c.7897G>A (p.Gly2633Ser)
c.5803G>A (p.Gly1935Ser)
c.5632G>A (p.Gly1878Ser)
c.5818G>A (p.Gly1940Ser)
c.7867G>A (p.Gly2623Ser)
c.8209G>A (p.Gly2737Ser)
c.8041G>A (p.Gly2681Ser)
c.8032G>A (p.Gly2678Ser)
c.8026G>A (p.Gly2676Ser)
c.7948G>A (p.Gly2650Ser)
c.7864G>A (p.Gly2622Ser)
n.353-6674C>T
c.7927G>A (p.Gly2643Ser)
c.3187G>A (p.Gly1063Ser)
n.392-6674C>T
2g.219489083G>CCA350708577ASIC4-AS1,SPEGc.8179G>C (p.Gly2727Arg)
n.7422G>C
c.7897G>C (p.Gly2633Arg)
c.5803G>C (p.Gly1935Arg)
c.5632G>C (p.Gly1878Arg)
c.5818G>C (p.Gly1940Arg)
c.7867G>C (p.Gly2623Arg)
c.8209G>C (p.Gly2737Arg)
c.8041G>C (p.Gly2681Arg)
c.8032G>C (p.Gly2678Arg)
c.8026G>C (p.Gly2676Arg)
c.7948G>C (p.Gly2650Arg)
c.7864G>C (p.Gly2622Arg)
n.353-6674C>G
c.7927G>C (p.Gly2643Arg)
c.3187G>C (p.Gly1063Arg)
n.392-6674C>G
2g.219489083G>TCA350708578ASIC4-AS1,SPEGc.8179G>T (p.Gly2727Cys)
n.7422G>T
c.7897G>T (p.Gly2633Cys)
c.5803G>T (p.Gly1935Cys)
c.5632G>T (p.Gly1878Cys)
c.5818G>T (p.Gly1940Cys)
c.7867G>T (p.Gly2623Cys)
c.8209G>T (p.Gly2737Cys)
c.8041G>T (p.Gly2681Cys)
c.8032G>T (p.Gly2678Cys)
c.8026G>T (p.Gly2676Cys)
c.7948G>T (p.Gly2650Cys)
c.7864G>T (p.Gly2622Cys)
n.353-6674C>A
c.7927G>T (p.Gly2643Cys)
c.3187G>T (p.Gly1063Cys)
n.392-6674C>A
2g.219489084G>ACA350708580ASIC4-AS1,SPEGc.8180G>A (p.Gly2727Asp)
n.7423G>A
c.7898G>A (p.Gly2633Asp)
c.5804G>A (p.Gly1935Asp)
c.5633G>A (p.Gly1878Asp)
c.5819G>A (p.Gly1940Asp)
c.7868G>A (p.Gly2623Asp)
c.8210G>A (p.Gly2737Asp)
c.8042G>A (p.Gly2681Asp)
c.8033G>A (p.Gly2678Asp)
c.8027G>A (p.Gly2676Asp)
c.7949G>A (p.Gly2650Asp)
c.7865G>A (p.Gly2622Asp)
n.353-6675C>T
c.7928G>A (p.Gly2643Asp)
c.3188G>A (p.Gly1063Asp)
n.392-6675C>T
2g.219489084G>CCA350708581ASIC4-AS1,SPEGc.8180G>C (p.Gly2727Ala)
n.7423G>C
c.7898G>C (p.Gly2633Ala)
c.5804G>C (p.Gly1935Ala)
c.5633G>C (p.Gly1878Ala)
c.5819G>C (p.Gly1940Ala)
c.7868G>C (p.Gly2623Ala)
c.8210G>C (p.Gly2737Ala)
c.8042G>C (p.Gly2681Ala)
c.8033G>C (p.Gly2678Ala)
c.8027G>C (p.Gly2676Ala)
c.7949G>C (p.Gly2650Ala)
c.7865G>C (p.Gly2622Ala)
n.353-6675C>G
c.7928G>C (p.Gly2643Ala)
c.3188G>C (p.Gly1063Ala)
n.392-6675C>G
 gnomAD v4
2g.219489084G>TCA350708582ASIC4-AS1,SPEGc.8180G>T (p.Gly2727Val)
n.7423G>T
c.7898G>T (p.Gly2633Val)
c.5804G>T (p.Gly1935Val)
c.5633G>T (p.Gly1878Val)
c.5819G>T (p.Gly1940Val)
c.7868G>T (p.Gly2623Val)
c.8210G>T (p.Gly2737Val)
c.8042G>T (p.Gly2681Val)
c.8033G>T (p.Gly2678Val)
c.8027G>T (p.Gly2676Val)
c.7949G>T (p.Gly2650Val)
c.7865G>T (p.Gly2622Val)
n.353-6675C>A
c.7928G>T (p.Gly2643Val)
c.3188G>T (p.Gly1063Val)
n.392-6675C>A
2g.219489085C>ACA431431280ASIC4-AS1,SPEGc.8181C>A (p.Gly2727=)
n.7424C>A
c.7899C>A (p.Gly2633=)
c.5805C>A (p.Gly1935=)
c.5634C>A (p.Gly1878=)
c.5820C>A (p.Gly1940=)
c.7869C>A (p.Gly2623=)
c.8211C>A (p.Gly2737=)
c.8043C>A (p.Gly2681=)
c.8034C>A (p.Gly2678=)
c.8028C>A (p.Gly2676=)
c.7950C>A (p.Gly2650=)
c.7866C>A (p.Gly2622=)
n.353-6676G>T
c.7929C>A (p.Gly2643=)
c.3189C>A (p.Gly1063=)
n.392-6676G>T
2g.219489085C>GCA431431281ASIC4-AS1,SPEGc.8181C>G (p.Gly2727=)
n.7424C>G
c.7899C>G (p.Gly2633=)
c.5805C>G (p.Gly1935=)
c.5634C>G (p.Gly1878=)
c.5820C>G (p.Gly1940=)
c.7869C>G (p.Gly2623=)
c.8211C>G (p.Gly2737=)
c.8043C>G (p.Gly2681=)
c.8034C>G (p.Gly2678=)
c.8028C>G (p.Gly2676=)
c.7950C>G (p.Gly2650=)
c.7866C>G (p.Gly2622=)
n.353-6676G>C
c.7929C>G (p.Gly2643=)
c.3189C>G (p.Gly1063=)
n.392-6676G>C
2g.219489085C>TCA431431282ASIC4-AS1,SPEGc.8181C>T (p.Gly2727=)
n.7424C>T
c.7899C>T (p.Gly2633=)
c.5805C>T (p.Gly1935=)
c.5634C>T (p.Gly1878=)
c.5820C>T (p.Gly1940=)
c.7869C>T (p.Gly2623=)
c.8211C>T (p.Gly2737=)
c.8043C>T (p.Gly2681=)
c.8034C>T (p.Gly2678=)
c.8028C>T (p.Gly2676=)
c.7950C>T (p.Gly2650=)
c.7866C>T (p.Gly2622=)
n.353-6676G>A
c.7929C>T (p.Gly2643=)
c.3189C>T (p.Gly1063=)
n.392-6676G>A
2g.219489086A>CCA350708583ASIC4-AS1,SPEGc.8182A>C (p.Ile2728Leu)
n.7425A>C
c.7900A>C (p.Ile2634Leu)
c.5806A>C (p.Ile1936Leu)
c.5635A>C (p.Ile1879Leu)
c.5821A>C (p.Ile1941Leu)
c.7870A>C (p.Ile2624Leu)
c.8212A>C (p.Ile2738Leu)
c.8044A>C (p.Ile2682Leu)
c.8035A>C (p.Ile2679Leu)
c.8029A>C (p.Ile2677Leu)
c.7951A>C (p.Ile2651Leu)
c.7867A>C (p.Ile2623Leu)
n.353-6677T>G
c.7930A>C (p.Ile2644Leu)
c.3190A>C (p.Ile1064Leu)
n.392-6677T>G
2g.219489086A>GCA350708584ASIC4-AS1,SPEGc.8182A>G (p.Ile2728Val)
n.7425A>G
c.7900A>G (p.Ile2634Val)
c.5806A>G (p.Ile1936Val)
c.5635A>G (p.Ile1879Val)
c.5821A>G (p.Ile1941Val)
c.7870A>G (p.Ile2624Val)
c.8212A>G (p.Ile2738Val)
c.8044A>G (p.Ile2682Val)
c.8035A>G (p.Ile2679Val)
c.8029A>G (p.Ile2677Val)
c.7951A>G (p.Ile2651Val)
c.7867A>G (p.Ile2623Val)
n.353-6677T>C
c.7930A>G (p.Ile2644Val)
c.3190A>G (p.Ile1064Val)
n.392-6677T>C
 ClinVar
2g.219489086A>TCA350708585ASIC4-AS1,SPEGc.8182A>T (p.Ile2728Phe)
n.7425A>T
c.7900A>T (p.Ile2634Phe)
c.5806A>T (p.Ile1936Phe)
c.5635A>T (p.Ile1879Phe)
c.5821A>T (p.Ile1941Phe)
c.7870A>T (p.Ile2624Phe)
c.8212A>T (p.Ile2738Phe)
c.8044A>T (p.Ile2682Phe)
c.8035A>T (p.Ile2679Phe)
c.8029A>T (p.Ile2677Phe)
c.7951A>T (p.Ile2651Phe)
c.7867A>T (p.Ile2623Phe)
n.353-6677T>A
c.7930A>T (p.Ile2644Phe)
c.3190A>T (p.Ile1064Phe)
n.392-6677T>A
2g.219489087T>ACA350708586ASIC4-AS1,SPEGc.8183T>A (p.Ile2728Asn)
n.7426T>A
c.7901T>A (p.Ile2634Asn)
c.5807T>A (p.Ile1936Asn)
c.5636T>A (p.Ile1879Asn)
c.5822T>A (p.Ile1941Asn)
c.7871T>A (p.Ile2624Asn)
c.8213T>A (p.Ile2738Asn)
c.8045T>A (p.Ile2682Asn)
c.8036T>A (p.Ile2679Asn)
c.8030T>A (p.Ile2677Asn)
c.7952T>A (p.Ile2651Asn)
c.7868T>A (p.Ile2623Asn)
n.353-6678A>T
c.7931T>A (p.Ile2644Asn)
c.3191T>A (p.Ile1064Asn)
n.392-6678A>T
 gnomAD v4
2g.219489087T>CCA350708587ASIC4-AS1,SPEGc.8183T>C (p.Ile2728Thr)
n.7426T>C
c.7901T>C (p.Ile2634Thr)
c.5807T>C (p.Ile1936Thr)
c.5636T>C (p.Ile1879Thr)
c.5822T>C (p.Ile1941Thr)
c.7871T>C (p.Ile2624Thr)
c.8213T>C (p.Ile2738Thr)
c.8045T>C (p.Ile2682Thr)
c.8036T>C (p.Ile2679Thr)
c.8030T>C (p.Ile2677Thr)
c.7952T>C (p.Ile2651Thr)
c.7868T>C (p.Ile2623Thr)
n.353-6678A>G
c.7931T>C (p.Ile2644Thr)
c.3191T>C (p.Ile1064Thr)
n.392-6678A>G
2g.219489087T>GCA350708588ASIC4-AS1,SPEGc.8183T>G (p.Ile2728Ser)
n.7426T>G
c.7901T>G (p.Ile2634Ser)
c.5807T>G (p.Ile1936Ser)
c.5636T>G (p.Ile1879Ser)
c.5822T>G (p.Ile1941Ser)
c.7871T>G (p.Ile2624Ser)
c.8213T>G (p.Ile2738Ser)
c.8045T>G (p.Ile2682Ser)
c.8036T>G (p.Ile2679Ser)
c.8030T>G (p.Ile2677Ser)
c.7952T>G (p.Ile2651Ser)
c.7868T>G (p.Ile2623Ser)
n.353-6678A>C
c.7931T>G (p.Ile2644Ser)
c.3191T>G (p.Ile1064Ser)
n.392-6678A>C
2g.219489088C>ACA431431288ASIC4-AS1,SPEGc.8184C>A (p.Ile2728=)
n.7427C>A
c.7902C>A (p.Ile2634=)
c.5808C>A (p.Ile1936=)
c.5637C>A (p.Ile1879=)
c.5823C>A (p.Ile1941=)
c.7872C>A (p.Ile2624=)
c.8214C>A (p.Ile2738=)
c.8046C>A (p.Ile2682=)
c.8037C>A (p.Ile2679=)
c.8031C>A (p.Ile2677=)
c.7953C>A (p.Ile2651=)
c.7869C>A (p.Ile2623=)
n.353-6679G>T
c.7932C>A (p.Ile2644=)
c.3192C>A (p.Ile1064=)
n.392-6679G>T
 gnomAD v4
2g.219489088C>GCA350708589ASIC4-AS1,SPEGc.8184C>G (p.Ile2728Met)
n.7427C>G
c.7902C>G (p.Ile2634Met)
c.5808C>G (p.Ile1936Met)
c.5637C>G (p.Ile1879Met)
c.5823C>G (p.Ile1941Met)
c.7872C>G (p.Ile2624Met)
c.8214C>G (p.Ile2738Met)
c.8046C>G (p.Ile2682Met)
c.8037C>G (p.Ile2679Met)
c.8031C>G (p.Ile2677Met)
c.7953C>G (p.Ile2651Met)
c.7869C>G (p.Ile2623Met)
n.353-6679G>C
c.7932C>G (p.Ile2644Met)
c.3192C>G (p.Ile1064Met)
n.392-6679G>C
2g.219489088C>TCA431431289ASIC4-AS1,SPEGc.8184C>T (p.Ile2728=)
n.7427C>T
c.7902C>T (p.Ile2634=)
c.5808C>T (p.Ile1936=)
c.5637C>T (p.Ile1879=)
c.5823C>T (p.Ile1941=)
c.7872C>T (p.Ile2624=)
c.8214C>T (p.Ile2738=)
c.8046C>T (p.Ile2682=)
c.8037C>T (p.Ile2679=)
c.8031C>T (p.Ile2677=)
c.7953C>T (p.Ile2651=)
c.7869C>T (p.Ile2623=)
n.353-6679G>A
c.7932C>T (p.Ile2644=)
c.3192C>T (p.Ile1064=)
n.392-6679G>A
 gnomAD v4
2g.219489091delCA2697550469ASIC4-AS1,SPEGc.8187del (p.Asp2730ThrfsTer6)
n.7430del
c.7905del (p.Asp2636ThrfsTer6)
c.5811del (p.Asp1938ThrfsTer6)
c.5640del (p.Asp1881ThrfsTer6)
c.5826del (p.Asp1943ThrfsTer6)
c.7875del (p.Asp2626ThrfsTer6)
c.8217del (p.Asp2740ThrfsTer6)
c.8049del (p.Asp2684ThrfsTer6)
c.8040del (p.Asp2681ThrfsTer6)
c.8034del (p.Asp2679ThrfsTer6)
c.7956del (p.Asp2653ThrfsTer6)
c.7872del (p.Asp2625ThrfsTer6)
n.353-6679del
c.7935del (p.Asp2646ThrfsTer6)
c.3195del (p.Asp1066ThrfsTer6)
n.392-6679del
 ClinVar
2g.219489089C>ACA350708591ASIC4-AS1,SPEGc.8185C>A (p.Pro2729Thr)
n.7428C>A
c.7903C>A (p.Pro2635Thr)
c.5809C>A (p.Pro1937Thr)
c.5638C>A (p.Pro1880Thr)
c.5824C>A (p.Pro1942Thr)
c.7873C>A (p.Pro2625Thr)
c.8215C>A (p.Pro2739Thr)
c.8047C>A (p.Pro2683Thr)
c.8038C>A (p.Pro2680Thr)
c.8032C>A (p.Pro2678Thr)
c.7954C>A (p.Pro2652Thr)
c.7870C>A (p.Pro2624Thr)
n.353-6680G>T
c.7933C>A (p.Pro2645Thr)
c.3193C>A (p.Pro1065Thr)
n.392-6680G>T
2g.219489089C>GCA350708592ASIC4-AS1,SPEGc.8185C>G (p.Pro2729Ala)
n.7428C>G
c.7903C>G (p.Pro2635Ala)
c.5809C>G (p.Pro1937Ala)
c.5638C>G (p.Pro1880Ala)
c.5824C>G (p.Pro1942Ala)
c.7873C>G (p.Pro2625Ala)
c.8215C>G (p.Pro2739Ala)
c.8047C>G (p.Pro2683Ala)
c.8038C>G (p.Pro2680Ala)
c.8032C>G (p.Pro2678Ala)
c.7954C>G (p.Pro2652Ala)
c.7870C>G (p.Pro2624Ala)
n.353-6680G>C
c.7933C>G (p.Pro2645Ala)
c.3193C>G (p.Pro1065Ala)
n.392-6680G>C
2g.219489089C>TCA350708590ASIC4-AS1,SPEGc.8185C>T (p.Pro2729Ser)
n.7428C>T
c.7903C>T (p.Pro2635Ser)
c.5809C>T (p.Pro1937Ser)
c.5638C>T (p.Pro1880Ser)
c.5824C>T (p.Pro1942Ser)
c.7873C>T (p.Pro2625Ser)
c.8215C>T (p.Pro2739Ser)
c.8047C>T (p.Pro2683Ser)
c.8038C>T (p.Pro2680Ser)
c.8032C>T (p.Pro2678Ser)
c.7954C>T (p.Pro2652Ser)
c.7870C>T (p.Pro2624Ser)
n.353-6680G>A
c.7933C>T (p.Pro2645Ser)
c.3193C>T (p.Pro1065Ser)
n.392-6680G>A
 COSMIC
2g.219489090C>ACA350708593ASIC4-AS1,SPEGc.8186C>A (p.Pro2729His)
n.7429C>A
c.7904C>A (p.Pro2635His)
c.5810C>A (p.Pro1937His)
c.5639C>A (p.Pro1880His)
c.5825C>A (p.Pro1942His)
c.7874C>A (p.Pro2625His)
c.8216C>A (p.Pro2739His)
c.8048C>A (p.Pro2683His)
c.8039C>A (p.Pro2680His)
c.8033C>A (p.Pro2678His)
c.7955C>A (p.Pro2652His)
c.7871C>A (p.Pro2624His)
n.353-6681G>T
c.7934C>A (p.Pro2645His)
c.3194C>A (p.Pro1065His)
n.392-6681G>T
2g.219489090C>GCA350708594ASIC4-AS1,SPEGc.8186C>G (p.Pro2729Arg)
n.7429C>G
c.7904C>G (p.Pro2635Arg)
c.5810C>G (p.Pro1937Arg)
c.5639C>G (p.Pro1880Arg)
c.5825C>G (p.Pro1942Arg)
c.7874C>G (p.Pro2625Arg)
c.8216C>G (p.Pro2739Arg)
c.8048C>G (p.Pro2683Arg)
c.8039C>G (p.Pro2680Arg)
c.8033C>G (p.Pro2678Arg)
c.7955C>G (p.Pro2652Arg)
c.7871C>G (p.Pro2624Arg)
n.353-6681G>C
c.7934C>G (p.Pro2645Arg)
c.3194C>G (p.Pro1065Arg)
n.392-6681G>C
2g.219489090C>TCA350708595ASIC4-AS1,SPEGc.8186C>T (p.Pro2729Leu)
n.7429C>T
c.7904C>T (p.Pro2635Leu)
c.5810C>T (p.Pro1937Leu)
c.5639C>T (p.Pro1880Leu)
c.5825C>T (p.Pro1942Leu)
c.7874C>T (p.Pro2625Leu)
c.8216C>T (p.Pro2739Leu)
c.8048C>T (p.Pro2683Leu)
c.8039C>T (p.Pro2680Leu)
c.8033C>T (p.Pro2678Leu)
c.7955C>T (p.Pro2652Leu)
c.7871C>T (p.Pro2624Leu)
n.353-6681G>A
c.7934C>T (p.Pro2645Leu)
c.3194C>T (p.Pro1065Leu)
n.392-6681G>A
2g.219489091C>ACA431431294ASIC4-AS1,SPEGc.8187C>A (p.Pro2729=)
n.7430C>A
c.7905C>A (p.Pro2635=)
c.5811C>A (p.Pro1937=)
c.5640C>A (p.Pro1880=)
c.5826C>A (p.Pro1942=)
c.7875C>A (p.Pro2625=)
c.8217C>A (p.Pro2739=)
c.8049C>A (p.Pro2683=)
c.8040C>A (p.Pro2680=)
c.8034C>A (p.Pro2678=)
c.7956C>A (p.Pro2652=)
c.7872C>A (p.Pro2624=)
n.353-6682G>T
c.7935C>A (p.Pro2645=)
c.3195C>A (p.Pro1065=)
n.392-6682G>T
 COSMIC
2g.219489091C=CA1329242192ASIC4-AS1,SPEGc.8187C= (p.Pro2729=)
n.7430C=
c.7905C= (p.Pro2635=)
c.5811C= (p.Pro1937=)
c.5640C= (p.Pro1880=)
c.5826C= (p.Pro1942=)
c.7875C= (p.Pro2625=)
c.8217C= (p.Pro2739=)
c.8049C= (p.Pro2683=)
c.8040C= (p.Pro2680=)
c.8034C= (p.Pro2678=)
c.7956C= (p.Pro2652=)
c.7872C= (p.Pro2624=)
n.353-6682G=
c.7935C= (p.Pro2645=)
c.3195C= (p.Pro1065=)
n.392-6682G=
2g.219489091C>GCA431431296ASIC4-AS1,SPEGc.8187C>G (p.Pro2729=)
n.7430C>G
c.7905C>G (p.Pro2635=)
c.5811C>G (p.Pro1937=)
c.5640C>G (p.Pro1880=)
c.5826C>G (p.Pro1942=)
c.7875C>G (p.Pro2625=)
c.8217C>G (p.Pro2739=)
c.8049C>G (p.Pro2683=)
c.8040C>G (p.Pro2680=)
c.8034C>G (p.Pro2678=)
c.7956C>G (p.Pro2652=)
c.7872C>G (p.Pro2624=)
n.353-6682G>C
c.7935C>G (p.Pro2645=)
c.3195C>G (p.Pro1065=)
n.392-6682G>C
2g.219489091C>TCA65996887ASIC4-AS1,SPEGc.8187C>T (p.Pro2729=)
n.7430C>T
c.7905C>T (p.Pro2635=)
c.5811C>T (p.Pro1937=)
c.5640C>T (p.Pro1880=)
c.5826C>T (p.Pro1942=)
c.7875C>T (p.Pro2625=)
c.8217C>T (p.Pro2739=)
c.8049C>T (p.Pro2683=)
c.8040C>T (p.Pro2680=)
c.8034C>T (p.Pro2678=)
c.7956C>T (p.Pro2652=)
c.7872C>T (p.Pro2624=)
n.353-6682G>A
c.7935C>T (p.Pro2645=)
c.3195C>T (p.Pro1065=)
n.392-6682G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489092G>ACA2127428ASIC4-AS1,SPEGc.8188G>A (p.Asp2730Asn)
n.7431G>A
c.7906G>A (p.Asp2636Asn)
c.5812G>A (p.Asp1938Asn)
c.5641G>A (p.Asp1881Asn)
c.5827G>A (p.Asp1943Asn)
c.7876G>A (p.Asp2626Asn)
c.8218G>A (p.Asp2740Asn)
c.8050G>A (p.Asp2684Asn)
c.8041G>A (p.Asp2681Asn)
c.8035G>A (p.Asp2679Asn)
c.7957G>A (p.Asp2653Asn)
c.7873G>A (p.Asp2625Asn)
n.353-6683C>T
c.7936G>A (p.Asp2646Asn)
c.3196G>A (p.Asp1066Asn)
n.392-6683C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219489092G>CCA350708596ASIC4-AS1,SPEGc.8188G>C (p.Asp2730His)
n.7431G>C
c.7906G>C (p.Asp2636His)
c.5812G>C (p.Asp1938His)
c.5641G>C (p.Asp1881His)
c.5827G>C (p.Asp1943His)
c.7876G>C (p.Asp2626His)
c.8218G>C (p.Asp2740His)
c.8050G>C (p.Asp2684His)
c.8041G>C (p.Asp2681His)
c.8035G>C (p.Asp2679His)
c.7957G>C (p.Asp2653His)
c.7873G>C (p.Asp2625His)
n.353-6683C>G
c.7936G>C (p.Asp2646His)
c.3196G>C (p.Asp1066His)
n.392-6683C>G
2g.219489092G=CA1329242193ASIC4-AS1,SPEGc.8188G= (p.Asp2730=)
n.7431G=
c.7906G= (p.Asp2636=)
c.5812G= (p.Asp1938=)
c.5641G= (p.Asp1881=)
c.5827G= (p.Asp1943=)
c.7876G= (p.Asp2626=)
c.8218G= (p.Asp2740=)
c.8050G= (p.Asp2684=)
c.8041G= (p.Asp2681=)
c.8035G= (p.Asp2679=)
c.7957G= (p.Asp2653=)
c.7873G= (p.Asp2625=)
n.353-6683C=
c.7936G= (p.Asp2646=)
c.3196G= (p.Asp1066=)
n.392-6683C=
2g.219489092G>TCA350708597ASIC4-AS1,SPEGc.8188G>T (p.Asp2730Tyr)
n.7431G>T
c.7906G>T (p.Asp2636Tyr)
c.5812G>T (p.Asp1938Tyr)
c.5641G>T (p.Asp1881Tyr)
c.5827G>T (p.Asp1943Tyr)
c.7876G>T (p.Asp2626Tyr)
c.8218G>T (p.Asp2740Tyr)
c.8050G>T (p.Asp2684Tyr)
c.8041G>T (p.Asp2681Tyr)
c.8035G>T (p.Asp2679Tyr)
c.7957G>T (p.Asp2653Tyr)
c.7873G>T (p.Asp2625Tyr)
n.353-6683C>A
c.7936G>T (p.Asp2646Tyr)
c.3196G>T (p.Asp1066Tyr)
n.392-6683C>A
2g.219489093A>CCA350708598ASIC4-AS1,SPEGc.8189A>C (p.Asp2730Ala)
n.7432A>C
c.7907A>C (p.Asp2636Ala)
c.5813A>C (p.Asp1938Ala)
c.5642A>C (p.Asp1881Ala)
c.5828A>C (p.Asp1943Ala)
c.7877A>C (p.Asp2626Ala)
c.8219A>C (p.Asp2740Ala)
c.8051A>C (p.Asp2684Ala)
c.8042A>C (p.Asp2681Ala)
c.8036A>C (p.Asp2679Ala)
c.7958A>C (p.Asp2653Ala)
c.7874A>C (p.Asp2625Ala)
n.353-6684T>G
c.7937A>C (p.Asp2646Ala)
c.3197A>C (p.Asp1066Ala)
n.392-6684T>G
2g.219489093A>GCA350708599ASIC4-AS1,SPEGc.8189A>G (p.Asp2730Gly)
n.7432A>G
c.7907A>G (p.Asp2636Gly)
c.5813A>G (p.Asp1938Gly)
c.5642A>G (p.Asp1881Gly)
c.5828A>G (p.Asp1943Gly)
c.7877A>G (p.Asp2626Gly)
c.8219A>G (p.Asp2740Gly)
c.8051A>G (p.Asp2684Gly)
c.8042A>G (p.Asp2681Gly)
c.8036A>G (p.Asp2679Gly)
c.7958A>G (p.Asp2653Gly)
c.7874A>G (p.Asp2625Gly)
n.353-6684T>C
c.7937A>G (p.Asp2646Gly)
c.3197A>G (p.Asp1066Gly)
n.392-6684T>C
2g.219489093A>TCA350708600ASIC4-AS1,SPEGc.8189A>T (p.Asp2730Val)
n.7432A>T
c.7907A>T (p.Asp2636Val)
c.5813A>T (p.Asp1938Val)
c.5642A>T (p.Asp1881Val)
c.5828A>T (p.Asp1943Val)
c.7877A>T (p.Asp2626Val)
c.8219A>T (p.Asp2740Val)
c.8051A>T (p.Asp2684Val)
c.8042A>T (p.Asp2681Val)
c.8036A>T (p.Asp2679Val)
c.7958A>T (p.Asp2653Val)
c.7874A>T (p.Asp2625Val)
n.353-6684T>A
c.7937A>T (p.Asp2646Val)
c.3197A>T (p.Asp1066Val)
n.392-6684T>A
2g.219489094C>ACA350708601ASIC4-AS1,SPEGc.8190C>A (p.Asp2730Glu)
n.7433C>A
c.7908C>A (p.Asp2636Glu)
c.5814C>A (p.Asp1938Glu)
c.5643C>A (p.Asp1881Glu)
c.5829C>A (p.Asp1943Glu)
c.7878C>A (p.Asp2626Glu)
c.8220C>A (p.Asp2740Glu)
c.8052C>A (p.Asp2684Glu)
c.8043C>A (p.Asp2681Glu)
c.8037C>A (p.Asp2679Glu)
c.7959C>A (p.Asp2653Glu)
c.7875C>A (p.Asp2625Glu)
n.353-6685G>T
c.7938C>A (p.Asp2646Glu)
c.3198C>A (p.Asp1066Glu)
n.392-6685G>T
2g.219489094C=CA1329242194ASIC4-AS1,SPEGc.8190C= (p.Asp2730=)
n.7433C=
c.7908C= (p.Asp2636=)
c.5814C= (p.Asp1938=)
c.5643C= (p.Asp1881=)
c.5829C= (p.Asp1943=)
c.7878C= (p.Asp2626=)
c.8220C= (p.Asp2740=)
c.8052C= (p.Asp2684=)
c.8043C= (p.Asp2681=)
c.8037C= (p.Asp2679=)
c.7959C= (p.Asp2653=)
c.7875C= (p.Asp2625=)
n.353-6685G=
c.7938C= (p.Asp2646=)
c.3198C= (p.Asp1066=)
n.392-6685G=
2g.219489094C>GCA350708602ASIC4-AS1,SPEGc.8190C>G (p.Asp2730Glu)
n.7433C>G
c.7908C>G (p.Asp2636Glu)
c.5814C>G (p.Asp1938Glu)
c.5643C>G (p.Asp1881Glu)
c.5829C>G (p.Asp1943Glu)
c.7878C>G (p.Asp2626Glu)
c.8220C>G (p.Asp2740Glu)
c.8052C>G (p.Asp2684Glu)
c.8043C>G (p.Asp2681Glu)
c.8037C>G (p.Asp2679Glu)
c.7959C>G (p.Asp2653Glu)
c.7875C>G (p.Asp2625Glu)
n.353-6685G>C
c.7938C>G (p.Asp2646Glu)
c.3198C>G (p.Asp1066Glu)
n.392-6685G>C
 dbSNP
2g.219489094C>TCA431431300ASIC4-AS1,SPEGc.8190C>T (p.Asp2730=)
n.7433C>T
c.7908C>T (p.Asp2636=)
c.5814C>T (p.Asp1938=)
c.5643C>T (p.Asp1881=)
c.5829C>T (p.Asp1943=)
c.7878C>T (p.Asp2626=)
c.8220C>T (p.Asp2740=)
c.8052C>T (p.Asp2684=)
c.8043C>T (p.Asp2681=)
c.8037C>T (p.Asp2679=)
c.7959C>T (p.Asp2653=)
c.7875C>T (p.Asp2625=)
n.353-6685G>A
c.7938C>T (p.Asp2646=)
c.3198C>T (p.Asp1066=)
n.392-6685G>A
2g.219489095T>ACA350708605ASIC4-AS1,SPEGc.8191T>A (p.Cys2731Ser)
n.7434T>A
c.7909T>A (p.Cys2637Ser)
c.5815T>A (p.Cys1939Ser)
c.5644T>A (p.Cys1882Ser)
c.5830T>A (p.Cys1944Ser)
c.7879T>A (p.Cys2627Ser)
c.8221T>A (p.Cys2741Ser)
c.8053T>A (p.Cys2685Ser)
c.8044T>A (p.Cys2682Ser)
c.8038T>A (p.Cys2680Ser)
c.7960T>A (p.Cys2654Ser)
c.7876T>A (p.Cys2626Ser)
n.353-6686A>T
c.7939T>A (p.Cys2647Ser)
c.3199T>A (p.Cys1067Ser)
n.392-6686A>T
2g.219489095T>CCA350708603ASIC4-AS1,SPEGc.8191T>C (p.Cys2731Arg)
n.7434T>C
c.7909T>C (p.Cys2637Arg)
c.5815T>C (p.Cys1939Arg)
c.5644T>C (p.Cys1882Arg)
c.5830T>C (p.Cys1944Arg)
c.7879T>C (p.Cys2627Arg)
c.8221T>C (p.Cys2741Arg)
c.8053T>C (p.Cys2685Arg)
c.8044T>C (p.Cys2682Arg)
c.8038T>C (p.Cys2680Arg)
c.7960T>C (p.Cys2654Arg)
c.7876T>C (p.Cys2626Arg)
n.353-6686A>G
c.7939T>C (p.Cys2647Arg)
c.3199T>C (p.Cys1067Arg)
n.392-6686A>G
2g.219489095T>GCA350708604ASIC4-AS1,SPEGc.8191T>G (p.Cys2731Gly)
n.7434T>G
c.7909T>G (p.Cys2637Gly)
c.5815T>G (p.Cys1939Gly)
c.5644T>G (p.Cys1882Gly)
c.5830T>G (p.Cys1944Gly)
c.7879T>G (p.Cys2627Gly)
c.8221T>G (p.Cys2741Gly)
c.8053T>G (p.Cys2685Gly)
c.8044T>G (p.Cys2682Gly)
c.8038T>G (p.Cys2680Gly)
c.7960T>G (p.Cys2654Gly)
c.7876T>G (p.Cys2626Gly)
n.353-6686A>C
c.7939T>G (p.Cys2647Gly)
c.3199T>G (p.Cys1067Gly)
n.392-6686A>C
2g.219489096G>ACA350708606ASIC4-AS1,SPEGc.8192G>A (p.Cys2731Tyr)
n.7435G>A
c.7910G>A (p.Cys2637Tyr)
c.5816G>A (p.Cys1939Tyr)
c.5645G>A (p.Cys1882Tyr)
c.5831G>A (p.Cys1944Tyr)
c.7880G>A (p.Cys2627Tyr)
c.8222G>A (p.Cys2741Tyr)
c.8054G>A (p.Cys2685Tyr)
c.8045G>A (p.Cys2682Tyr)
c.8039G>A (p.Cys2680Tyr)
c.7961G>A (p.Cys2654Tyr)
c.7877G>A (p.Cys2626Tyr)
n.353-6687C>T
c.7940G>A (p.Cys2647Tyr)
c.3200G>A (p.Cys1067Tyr)
n.392-6687C>T
 gnomAD v4
2g.219489096G>CCA350708607ASIC4-AS1,SPEGc.8192G>C (p.Cys2731Ser)
n.7435G>C
c.7910G>C (p.Cys2637Ser)
c.5816G>C (p.Cys1939Ser)
c.5645G>C (p.Cys1882Ser)
c.5831G>C (p.Cys1944Ser)
c.7880G>C (p.Cys2627Ser)
c.8222G>C (p.Cys2741Ser)
c.8054G>C (p.Cys2685Ser)
c.8045G>C (p.Cys2682Ser)
c.8039G>C (p.Cys2680Ser)
c.7961G>C (p.Cys2654Ser)
c.7877G>C (p.Cys2626Ser)
n.353-6687C>G
c.7940G>C (p.Cys2647Ser)
c.3200G>C (p.Cys1067Ser)
n.392-6687C>G
2g.219489096G>TCA350708608ASIC4-AS1,SPEGc.8192G>T (p.Cys2731Phe)
n.7435G>T
c.7910G>T (p.Cys2637Phe)
c.5816G>T (p.Cys1939Phe)
c.5645G>T (p.Cys1882Phe)
c.5831G>T (p.Cys1944Phe)
c.7880G>T (p.Cys2627Phe)
c.8222G>T (p.Cys2741Phe)
c.8054G>T (p.Cys2685Phe)
c.8045G>T (p.Cys2682Phe)
c.8039G>T (p.Cys2680Phe)
c.7961G>T (p.Cys2654Phe)
c.7877G>T (p.Cys2626Phe)
n.353-6687C>A
c.7940G>T (p.Cys2647Phe)
c.3200G>T (p.Cys1067Phe)
n.392-6687C>A
2g.219489097T>ACA350708609ASIC4-AS1,SPEGc.8193T>A (p.Cys2731Ter)
n.7436T>A
c.7911T>A (p.Cys2637Ter)
c.5817T>A (p.Cys1939Ter)
c.5646T>A (p.Cys1882Ter)
c.5832T>A (p.Cys1944Ter)
c.7881T>A (p.Cys2627Ter)
c.8223T>A (p.Cys2741Ter)
c.8055T>A (p.Cys2685Ter)
c.8046T>A (p.Cys2682Ter)
c.8040T>A (p.Cys2680Ter)
c.7962T>A (p.Cys2654Ter)
c.7878T>A (p.Cys2626Ter)
n.353-6688A>T
c.7941T>A (p.Cys2647Ter)
c.3201T>A (p.Cys1067Ter)
n.392-6688A>T
2g.219489097T>CCA431431307ASIC4-AS1,SPEGc.8193T>C (p.Cys2731=)
n.7436T>C
c.7911T>C (p.Cys2637=)
c.5817T>C (p.Cys1939=)
c.5646T>C (p.Cys1882=)
c.5832T>C (p.Cys1944=)
c.7881T>C (p.Cys2627=)
c.8223T>C (p.Cys2741=)
c.8055T>C (p.Cys2685=)
c.8046T>C (p.Cys2682=)
c.8040T>C (p.Cys2680=)
c.7962T>C (p.Cys2654=)
c.7878T>C (p.Cys2626=)
n.353-6688A>G
c.7941T>C (p.Cys2647=)
c.3201T>C (p.Cys1067=)
n.392-6688A>G
2g.219489097T>GCA350708610ASIC4-AS1,SPEGc.8193T>G (p.Cys2731Trp)
n.7436T>G
c.7911T>G (p.Cys2637Trp)
c.5817T>G (p.Cys1939Trp)
c.5646T>G (p.Cys1882Trp)
c.5832T>G (p.Cys1944Trp)
c.7881T>G (p.Cys2627Trp)
c.8223T>G (p.Cys2741Trp)
c.8055T>G (p.Cys2685Trp)
c.8046T>G (p.Cys2682Trp)
c.8040T>G (p.Cys2680Trp)
c.7962T>G (p.Cys2654Trp)
c.7878T>G (p.Cys2626Trp)
n.353-6688A>C
c.7941T>G (p.Cys2647Trp)
c.3201T>G (p.Cys1067Trp)
n.392-6688A>C
2g.219489098T>ACA350708611ASIC4-AS1,SPEGc.8194T>A (p.Tyr2732Asn)
n.7437T>A
c.7912T>A (p.Tyr2638Asn)
c.5818T>A (p.Tyr1940Asn)
c.5647T>A (p.Tyr1883Asn)
c.5833T>A (p.Tyr1945Asn)
c.7882T>A (p.Tyr2628Asn)
c.8224T>A (p.Tyr2742Asn)
c.8056T>A (p.Tyr2686Asn)
c.8047T>A (p.Tyr2683Asn)
c.8041T>A (p.Tyr2681Asn)
c.7963T>A (p.Tyr2655Asn)
c.7879T>A (p.Tyr2627Asn)
n.353-6689A>T
c.7942T>A (p.Tyr2648Asn)
c.3202T>A (p.Tyr1068Asn)
n.392-6689A>T
2g.219489098T>CCA350708612ASIC4-AS1,SPEGc.8194T>C (p.Tyr2732His)
n.7437T>C
c.7912T>C (p.Tyr2638His)
c.5818T>C (p.Tyr1940His)
c.5647T>C (p.Tyr1883His)
c.5833T>C (p.Tyr1945His)
c.7882T>C (p.Tyr2628His)
c.8224T>C (p.Tyr2742His)
c.8056T>C (p.Tyr2686His)
c.8047T>C (p.Tyr2683His)
c.8041T>C (p.Tyr2681His)
c.7963T>C (p.Tyr2655His)
c.7879T>C (p.Tyr2627His)
n.353-6689A>G
c.7942T>C (p.Tyr2648His)
c.3202T>C (p.Tyr1068His)
n.392-6689A>G
2g.219489098T>GCA350708613ASIC4-AS1,SPEGc.8194T>G (p.Tyr2732Asp)
n.7437T>G
c.7912T>G (p.Tyr2638Asp)
c.5818T>G (p.Tyr1940Asp)
c.5647T>G (p.Tyr1883Asp)
c.5833T>G (p.Tyr1945Asp)
c.7882T>G (p.Tyr2628Asp)
c.8224T>G (p.Tyr2742Asp)
c.8056T>G (p.Tyr2686Asp)
c.8047T>G (p.Tyr2683Asp)
c.8041T>G (p.Tyr2681Asp)
c.7963T>G (p.Tyr2655Asp)
c.7879T>G (p.Tyr2627Asp)
n.353-6689A>C
c.7942T>G (p.Tyr2648Asp)
c.3202T>G (p.Tyr1068Asp)
n.392-6689A>C
2g.219489099A=CA1329242195ASIC4-AS1,SPEGc.8195A= (p.Tyr2732=)
n.7438A=
c.7913A= (p.Tyr2638=)
c.5819A= (p.Tyr1940=)
c.5648A= (p.Tyr1883=)
c.5834A= (p.Tyr1945=)
c.7883A= (p.Tyr2628=)
c.8225A= (p.Tyr2742=)
c.8057A= (p.Tyr2686=)
c.8048A= (p.Tyr2683=)
c.8042A= (p.Tyr2681=)
c.7964A= (p.Tyr2655=)
c.7880A= (p.Tyr2627=)
n.353-6690T=
c.7943A= (p.Tyr2648=)
c.3203A= (p.Tyr1068=)
n.392-6690T=
2g.219489099A>CCA350708614ASIC4-AS1,SPEGc.8195A>C (p.Tyr2732Ser)
n.7438A>C
c.7913A>C (p.Tyr2638Ser)
c.5819A>C (p.Tyr1940Ser)
c.5648A>C (p.Tyr1883Ser)
c.5834A>C (p.Tyr1945Ser)
c.7883A>C (p.Tyr2628Ser)
c.8225A>C (p.Tyr2742Ser)
c.8057A>C (p.Tyr2686Ser)
c.8048A>C (p.Tyr2683Ser)
c.8042A>C (p.Tyr2681Ser)
c.7964A>C (p.Tyr2655Ser)
c.7880A>C (p.Tyr2627Ser)
n.353-6690T>G
c.7943A>C (p.Tyr2648Ser)
c.3203A>C (p.Tyr1068Ser)
n.392-6690T>G
2g.219489099A>GCA350708615ASIC4-AS1,SPEGc.8195A>G (p.Tyr2732Cys)
n.7438A>G
c.7913A>G (p.Tyr2638Cys)
c.5819A>G (p.Tyr1940Cys)
c.5648A>G (p.Tyr1883Cys)
c.5834A>G (p.Tyr1945Cys)
c.7883A>G (p.Tyr2628Cys)
c.8225A>G (p.Tyr2742Cys)
c.8057A>G (p.Tyr2686Cys)
c.8048A>G (p.Tyr2683Cys)
c.8042A>G (p.Tyr2681Cys)
c.7964A>G (p.Tyr2655Cys)
c.7880A>G (p.Tyr2627Cys)
n.353-6690T>C
c.7943A>G (p.Tyr2648Cys)
c.3203A>G (p.Tyr1068Cys)
n.392-6690T>C
2g.219489099A>TCA65996895ASIC4-AS1,SPEGc.8195A>T (p.Tyr2732Phe)
n.7438A>T
c.7913A>T (p.Tyr2638Phe)
c.5819A>T (p.Tyr1940Phe)
c.5648A>T (p.Tyr1883Phe)
c.5834A>T (p.Tyr1945Phe)
c.7883A>T (p.Tyr2628Phe)
c.8225A>T (p.Tyr2742Phe)
c.8057A>T (p.Tyr2686Phe)
c.8048A>T (p.Tyr2683Phe)
c.8042A>T (p.Tyr2681Phe)
c.7964A>T (p.Tyr2655Phe)
c.7880A>T (p.Tyr2627Phe)
n.353-6690T>A
c.7943A>T (p.Tyr2648Phe)
c.3203A>T (p.Tyr1068Phe)
n.392-6690T>A
 dbSNP gnomAD v4
2g.219489100C>ACA350708616ASIC4-AS1,SPEGc.8196C>A (p.Tyr2732Ter)
n.7439C>A
c.7914C>A (p.Tyr2638Ter)
c.5820C>A (p.Tyr1940Ter)
c.5649C>A (p.Tyr1883Ter)
c.5835C>A (p.Tyr1945Ter)
c.7884C>A (p.Tyr2628Ter)
c.8226C>A (p.Tyr2742Ter)
c.8058C>A (p.Tyr2686Ter)
c.8049C>A (p.Tyr2683Ter)
c.8043C>A (p.Tyr2681Ter)
c.7965C>A (p.Tyr2655Ter)
c.7881C>A (p.Tyr2627Ter)
n.353-6691G>T
c.7944C>A (p.Tyr2648Ter)
c.3204C>A (p.Tyr1068Ter)
n.392-6691G>T
2g.219489100C=CA1329242196ASIC4-AS1,SPEGc.8196C= (p.Tyr2732=)
n.7439C=
c.7914C= (p.Tyr2638=)
c.5820C= (p.Tyr1940=)
c.5649C= (p.Tyr1883=)
c.5835C= (p.Tyr1945=)
c.7884C= (p.Tyr2628=)
c.8226C= (p.Tyr2742=)
c.8058C= (p.Tyr2686=)
c.8049C= (p.Tyr2683=)
c.8043C= (p.Tyr2681=)
c.7965C= (p.Tyr2655=)
c.7881C= (p.Tyr2627=)
n.353-6691G=
c.7944C= (p.Tyr2648=)
c.3204C= (p.Tyr1068=)
n.392-6691G=
2g.219489100C>GCA350708617ASIC4-AS1,SPEGc.8196C>G (p.Tyr2732Ter)
n.7439C>G
c.7914C>G (p.Tyr2638Ter)
c.5820C>G (p.Tyr1940Ter)
c.5649C>G (p.Tyr1883Ter)
c.5835C>G (p.Tyr1945Ter)
c.7884C>G (p.Tyr2628Ter)
c.8226C>G (p.Tyr2742Ter)
c.8058C>G (p.Tyr2686Ter)
c.8049C>G (p.Tyr2683Ter)
c.8043C>G (p.Tyr2681Ter)
c.7965C>G (p.Tyr2655Ter)
c.7881C>G (p.Tyr2627Ter)
n.353-6691G>C
c.7944C>G (p.Tyr2648Ter)
c.3204C>G (p.Tyr1068Ter)
n.392-6691G>C
2g.219489100C>TCA431431313ASIC4-AS1,SPEGc.8196C>T (p.Tyr2732=)
n.7439C>T
c.7914C>T (p.Tyr2638=)
c.5820C>T (p.Tyr1940=)
c.5649C>T (p.Tyr1883=)
c.5835C>T (p.Tyr1945=)
c.7884C>T (p.Tyr2628=)
c.8226C>T (p.Tyr2742=)
c.8058C>T (p.Tyr2686=)
c.8049C>T (p.Tyr2683=)
c.8043C>T (p.Tyr2681=)
c.7965C>T (p.Tyr2655=)
c.7881C>T (p.Tyr2627=)
n.353-6691G>A
c.7944C>T (p.Tyr2648=)
c.3204C>T (p.Tyr1068=)
n.392-6691G>A
 dbSNP gnomAD v2 gnomAD v4
2g.219489101T>ACA350708619ASIC4-AS1,SPEGc.8197T>A (p.Tyr2733Asn)
n.7440T>A
c.7915T>A (p.Tyr2639Asn)
c.5821T>A (p.Tyr1941Asn)
c.5650T>A (p.Tyr1884Asn)
c.5836T>A (p.Tyr1946Asn)
c.7885T>A (p.Tyr2629Asn)
c.8227T>A (p.Tyr2743Asn)
c.8059T>A (p.Tyr2687Asn)
c.8050T>A (p.Tyr2684Asn)
c.8044T>A (p.Tyr2682Asn)
c.7966T>A (p.Tyr2656Asn)
c.7882T>A (p.Tyr2628Asn)
n.353-6692A>T
c.7945T>A (p.Tyr2649Asn)
c.3205T>A (p.Tyr1069Asn)
n.392-6692A>T
2g.219489101T>CCA350708620ASIC4-AS1,SPEGc.8197T>C (p.Tyr2733His)
n.7440T>C
c.7915T>C (p.Tyr2639His)
c.5821T>C (p.Tyr1941His)
c.5650T>C (p.Tyr1884His)
c.5836T>C (p.Tyr1946His)
c.7885T>C (p.Tyr2629His)
c.8227T>C (p.Tyr2743His)
c.8059T>C (p.Tyr2687His)
c.8050T>C (p.Tyr2684His)
c.8044T>C (p.Tyr2682His)
c.7966T>C (p.Tyr2656His)
c.7882T>C (p.Tyr2628His)
n.353-6692A>G
c.7945T>C (p.Tyr2649His)
c.3205T>C (p.Tyr1069His)
n.392-6692A>G
2g.219489101T>GCA350708618ASIC4-AS1,SPEGc.8197T>G (p.Tyr2733Asp)
n.7440T>G
c.7915T>G (p.Tyr2639Asp)
c.5821T>G (p.Tyr1941Asp)
c.5650T>G (p.Tyr1884Asp)
c.5836T>G (p.Tyr1946Asp)
c.7885T>G (p.Tyr2629Asp)
c.8227T>G (p.Tyr2743Asp)
c.8059T>G (p.Tyr2687Asp)
c.8050T>G (p.Tyr2684Asp)
c.8044T>G (p.Tyr2682Asp)
c.7966T>G (p.Tyr2656Asp)
c.7882T>G (p.Tyr2628Asp)
n.353-6692A>C
c.7945T>G (p.Tyr2649Asp)
c.3205T>G (p.Tyr1069Asp)
n.392-6692A>C
2g.219489101_219489104delinsTACACA1329242197ASIC4-AS1,SPEGc.8197_8200delinsTACA (p.Tyr2733=)
n.7440_7443delinsTACA
c.7915_7918delinsTACA (p.Tyr2639=)
c.5821_5824delinsTACA (p.Tyr1941=)
c.5650_5653delinsTACA (p.Tyr1884=)
c.5836_5839delinsTACA (p.Tyr1946=)
c.7885_7888delinsTACA (p.Tyr2629=)
c.8227_8230delinsTACA (p.Tyr2743=)
c.8059_8062delinsTACA (p.Tyr2687=)
c.8050_8053delinsTACA (p.Tyr2684=)
c.8044_8047delinsTACA (p.Tyr2682=)
c.7966_7969delinsTACA (p.Tyr2656=)
c.7882_7885delinsTACA (p.Tyr2628=)
n.353-6695_353-6692delinsTGTA
c.7945_7948delinsTACA (p.Tyr2649=)
c.3205_3208delinsTACA (p.Tyr1069=)
n.392-6695_392-6692delinsTGTA
2g.219489102A=CA1329242198ASIC4-AS1,SPEGc.8198A= (p.Tyr2733=)
n.7441A=
c.7916A= (p.Tyr2639=)
c.5822A= (p.Tyr1941=)
c.5651A= (p.Tyr1884=)
c.5837A= (p.Tyr1946=)
c.7886A= (p.Tyr2629=)
c.8228A= (p.Tyr2743=)
c.8060A= (p.Tyr2687=)
c.8051A= (p.Tyr2684=)
c.8045A= (p.Tyr2682=)
c.7967A= (p.Tyr2656=)
c.7883A= (p.Tyr2628=)
n.353-6693T=
c.7946A= (p.Tyr2649=)
c.3206A= (p.Tyr1069=)
n.392-6693T=
2g.219489102A>CCA350708621ASIC4-AS1,SPEGc.8198A>C (p.Tyr2733Ser)
n.7441A>C
c.7916A>C (p.Tyr2639Ser)
c.5822A>C (p.Tyr1941Ser)
c.5651A>C (p.Tyr1884Ser)
c.5837A>C (p.Tyr1946Ser)
c.7886A>C (p.Tyr2629Ser)
c.8228A>C (p.Tyr2743Ser)
c.8060A>C (p.Tyr2687Ser)
c.8051A>C (p.Tyr2684Ser)
c.8045A>C (p.Tyr2682Ser)
c.7967A>C (p.Tyr2656Ser)
c.7883A>C (p.Tyr2628Ser)
n.353-6693T>G
c.7946A>C (p.Tyr2649Ser)
c.3206A>C (p.Tyr1069Ser)
n.392-6693T>G
2g.219489102A>GCA350708622ASIC4-AS1,SPEGc.8198A>G (p.Tyr2733Cys)
n.7441A>G
c.7916A>G (p.Tyr2639Cys)
c.5822A>G (p.Tyr1941Cys)
c.5651A>G (p.Tyr1884Cys)
c.5837A>G (p.Tyr1946Cys)
c.7886A>G (p.Tyr2629Cys)
c.8228A>G (p.Tyr2743Cys)
c.8060A>G (p.Tyr2687Cys)
c.8051A>G (p.Tyr2684Cys)
c.8045A>G (p.Tyr2682Cys)
c.7967A>G (p.Tyr2656Cys)
c.7883A>G (p.Tyr2628Cys)
n.353-6693T>C
c.7946A>G (p.Tyr2649Cys)
c.3206A>G (p.Tyr1069Cys)
n.392-6693T>C
 dbSNP gnomAD v2 gnomAD v4
2g.219489102A>TCA350708623ASIC4-AS1,SPEGc.8198A>T (p.Tyr2733Phe)
n.7441A>T
c.7916A>T (p.Tyr2639Phe)
c.5822A>T (p.Tyr1941Phe)
c.5651A>T (p.Tyr1884Phe)
c.5837A>T (p.Tyr1946Phe)
c.7886A>T (p.Tyr2629Phe)
c.8228A>T (p.Tyr2743Phe)
c.8060A>T (p.Tyr2687Phe)
c.8051A>T (p.Tyr2684Phe)
c.8045A>T (p.Tyr2682Phe)
c.7967A>T (p.Tyr2656Phe)
c.7883A>T (p.Tyr2628Phe)
n.353-6693T>A
c.7946A>T (p.Tyr2649Phe)
c.3206A>T (p.Tyr1069Phe)
n.392-6693T>A
2g.219489104_219489106delCA2127429ASIC4-AS1,SPEGc.8200_8202del (p.Asn2734del)
n.7443_7445del
c.7918_7920del (p.Asn2640del)
c.5824_5826del (p.Asn1942del)
c.5653_5655del (p.Asn1885del)
c.5839_5841del (p.Asn1947del)
c.7888_7890del (p.Asn2630del)
c.8230_8232del (p.Asn2744del)
c.8062_8064del (p.Asn2688del)
c.8053_8055del (p.Asn2685del)
c.8047_8049del (p.Asn2683del)
c.7969_7971del (p.Asn2657del)
c.7885_7887del (p.Asn2629del)
n.353-6695_353-6693del
c.7948_7950del (p.Asn2650del)
c.3208_3210del (p.Asn1070del)
n.392-6695_392-6693del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219489103C>ACA350708624ASIC4-AS1,SPEGc.8199C>A (p.Tyr2733Ter)
n.7442C>A
c.7917C>A (p.Tyr2639Ter)
c.5823C>A (p.Tyr1941Ter)
c.5652C>A (p.Tyr1884Ter)
c.5838C>A (p.Tyr1946Ter)
c.7887C>A (p.Tyr2629Ter)
c.8229C>A (p.Tyr2743Ter)
c.8061C>A (p.Tyr2687Ter)
c.8052C>A (p.Tyr2684Ter)
c.8046C>A (p.Tyr2682Ter)
c.7968C>A (p.Tyr2656Ter)
c.7884C>A (p.Tyr2628Ter)
n.353-6694G>T
c.7947C>A (p.Tyr2649Ter)
c.3207C>A (p.Tyr1069Ter)
n.392-6694G>T
2g.219489103C>GCA350708625ASIC4-AS1,SPEGc.8199C>G (p.Tyr2733Ter)
n.7442C>G
c.7917C>G (p.Tyr2639Ter)
c.5823C>G (p.Tyr1941Ter)
c.5652C>G (p.Tyr1884Ter)
c.5838C>G (p.Tyr1946Ter)
c.7887C>G (p.Tyr2629Ter)
c.8229C>G (p.Tyr2743Ter)
c.8061C>G (p.Tyr2687Ter)
c.8052C>G (p.Tyr2684Ter)
c.8046C>G (p.Tyr2682Ter)
c.7968C>G (p.Tyr2656Ter)
c.7884C>G (p.Tyr2628Ter)
n.353-6694G>C
c.7947C>G (p.Tyr2649Ter)
c.3207C>G (p.Tyr1069Ter)
n.392-6694G>C
2g.219489103C>TCA431431321ASIC4-AS1,SPEGc.8199C>T (p.Tyr2733=)
n.7442C>T
c.7917C>T (p.Tyr2639=)
c.5823C>T (p.Tyr1941=)
c.5652C>T (p.Tyr1884=)
c.5838C>T (p.Tyr1946=)
c.7887C>T (p.Tyr2629=)
c.8229C>T (p.Tyr2743=)
c.8061C>T (p.Tyr2687=)
c.8052C>T (p.Tyr2684=)
c.8046C>T (p.Tyr2682=)
c.7968C>T (p.Tyr2656=)
c.7884C>T (p.Tyr2628=)
n.353-6694G>A
c.7947C>T (p.Tyr2649=)
c.3207C>T (p.Tyr1069=)
n.392-6694G>A
2g.219489104A>CCA350708628ASIC4-AS1,SPEGc.8200A>C (p.Asn2734His)
n.7443A>C
c.7918A>C (p.Asn2640His)
c.5824A>C (p.Asn1942His)
c.5653A>C (p.Asn1885His)
c.5839A>C (p.Asn1947His)
c.7888A>C (p.Asn2630His)
c.8230A>C (p.Asn2744His)
c.8062A>C (p.Asn2688His)
c.8053A>C (p.Asn2685His)
c.8047A>C (p.Asn2683His)
c.7969A>C (p.Asn2657His)
c.7885A>C (p.Asn2629His)
n.353-6695T>G
c.7948A>C (p.Asn2650His)
c.3208A>C (p.Asn1070His)
n.392-6695T>G
2g.219489104A>GCA350708626ASIC4-AS1,SPEGc.8200A>G (p.Asn2734Asp)
n.7443A>G
c.7918A>G (p.Asn2640Asp)
c.5824A>G (p.Asn1942Asp)
c.5653A>G (p.Asn1885Asp)
c.5839A>G (p.Asn1947Asp)
c.7888A>G (p.Asn2630Asp)
c.8230A>G (p.Asn2744Asp)
c.8062A>G (p.Asn2688Asp)
c.8053A>G (p.Asn2685Asp)
c.8047A>G (p.Asn2683Asp)
c.7969A>G (p.Asn2657Asp)
c.7885A>G (p.Asn2629Asp)
n.353-6695T>C
c.7948A>G (p.Asn2650Asp)
c.3208A>G (p.Asn1070Asp)
n.392-6695T>C
 gnomAD v4
2g.219489104A>TCA350708627ASIC4-AS1,SPEGc.8200A>T (p.Asn2734Tyr)
n.7443A>T
c.7918A>T (p.Asn2640Tyr)
c.5824A>T (p.Asn1942Tyr)
c.5653A>T (p.Asn1885Tyr)
c.5839A>T (p.Asn1947Tyr)
c.7888A>T (p.Asn2630Tyr)
c.8230A>T (p.Asn2744Tyr)
c.8062A>T (p.Asn2688Tyr)
c.8053A>T (p.Asn2685Tyr)
c.8047A>T (p.Asn2683Tyr)
c.7969A>T (p.Asn2657Tyr)
c.7885A>T (p.Asn2629Tyr)
n.353-6695T>A
c.7948A>T (p.Asn2650Tyr)
c.3208A>T (p.Asn1070Tyr)
n.392-6695T>A
2g.219489105A>CCA350708629ASIC4-AS1,SPEGc.8201A>C (p.Asn2734Thr)
n.7444A>C
c.7919A>C (p.Asn2640Thr)
c.5825A>C (p.Asn1942Thr)
c.5654A>C (p.Asn1885Thr)
c.5840A>C (p.Asn1947Thr)
c.7889A>C (p.Asn2630Thr)
c.8231A>C (p.Asn2744Thr)
c.8063A>C (p.Asn2688Thr)
c.8054A>C (p.Asn2685Thr)
c.8048A>C (p.Asn2683Thr)
c.7970A>C (p.Asn2657Thr)
c.7886A>C (p.Asn2629Thr)
n.353-6696T>G
c.7949A>C (p.Asn2650Thr)
c.3209A>C (p.Asn1070Thr)
n.392-6696T>G
2g.219489105A>GCA350708630ASIC4-AS1,SPEGc.8201A>G (p.Asn2734Ser)
n.7444A>G
c.7919A>G (p.Asn2640Ser)
c.5825A>G (p.Asn1942Ser)
c.5654A>G (p.Asn1885Ser)
c.5840A>G (p.Asn1947Ser)
c.7889A>G (p.Asn2630Ser)
c.8231A>G (p.Asn2744Ser)
c.8063A>G (p.Asn2688Ser)
c.8054A>G (p.Asn2685Ser)
c.8048A>G (p.Asn2683Ser)
c.7970A>G (p.Asn2657Ser)
c.7886A>G (p.Asn2629Ser)
n.353-6696T>C
c.7949A>G (p.Asn2650Ser)
c.3209A>G (p.Asn1070Ser)
n.392-6696T>C
2g.219489105A>TCA350708631ASIC4-AS1,SPEGc.8201A>T (p.Asn2734Ile)
n.7444A>T
c.7919A>T (p.Asn2640Ile)
c.5825A>T (p.Asn1942Ile)
c.5654A>T (p.Asn1885Ile)
c.5840A>T (p.Asn1947Ile)
c.7889A>T (p.Asn2630Ile)
c.8231A>T (p.Asn2744Ile)
c.8063A>T (p.Asn2688Ile)
c.8054A>T (p.Asn2685Ile)
c.8048A>T (p.Asn2683Ile)
c.7970A>T (p.Asn2657Ile)
c.7886A>T (p.Asn2629Ile)
n.353-6696T>A
c.7949A>T (p.Asn2650Ile)
c.3209A>T (p.Asn1070Ile)
n.392-6696T>A
2g.219489106C>ACA350708632ASIC4-AS1,SPEGc.8202C>A (p.Asn2734Lys)
n.7445C>A
c.7920C>A (p.Asn2640Lys)
c.5826C>A (p.Asn1942Lys)
c.5655C>A (p.Asn1885Lys)
c.5841C>A (p.Asn1947Lys)
c.7890C>A (p.Asn2630Lys)
c.8232C>A (p.Asn2744Lys)
c.8064C>A (p.Asn2688Lys)
c.8055C>A (p.Asn2685Lys)
c.8049C>A (p.Asn2683Lys)
c.7971C>A (p.Asn2657Lys)
c.7887C>A (p.Asn2629Lys)
n.353-6697G>T
c.7950C>A (p.Asn2650Lys)
c.3210C>A (p.Asn1070Lys)
n.392-6697G>T
 dbSNP
2g.219489106C=CA1329242199ASIC4-AS1,SPEGc.8202C= (p.Asn2734=)
n.7445C=
c.7920C= (p.Asn2640=)
c.5826C= (p.Asn1942=)
c.5655C= (p.Asn1885=)
c.5841C= (p.Asn1947=)
c.7890C= (p.Asn2630=)
c.8232C= (p.Asn2744=)
c.8064C= (p.Asn2688=)
c.8055C= (p.Asn2685=)
c.8049C= (p.Asn2683=)
c.7971C= (p.Asn2657=)
c.7887C= (p.Asn2629=)
n.353-6697G=
c.7950C= (p.Asn2650=)
c.3210C= (p.Asn1070=)
n.392-6697G=
2g.219489106C>GCA350708633ASIC4-AS1,SPEGc.8202C>G (p.Asn2734Lys)
n.7445C>G
c.7920C>G (p.Asn2640Lys)
c.5826C>G (p.Asn1942Lys)
c.5655C>G (p.Asn1885Lys)
c.5841C>G (p.Asn1947Lys)
c.7890C>G (p.Asn2630Lys)
c.8232C>G (p.Asn2744Lys)
c.8064C>G (p.Asn2688Lys)
c.8055C>G (p.Asn2685Lys)
c.8049C>G (p.Asn2683Lys)
c.7971C>G (p.Asn2657Lys)
c.7887C>G (p.Asn2629Lys)
n.353-6697G>C
c.7950C>G (p.Asn2650Lys)
c.3210C>G (p.Asn1070Lys)
n.392-6697G>C
2g.219489106C>TCA2127430ASIC4-AS1,SPEGc.8202C>T (p.Asn2734=)
n.7445C>T
c.7920C>T (p.Asn2640=)
c.5826C>T (p.Asn1942=)
c.5655C>T (p.Asn1885=)
c.5841C>T (p.Asn1947=)
c.7890C>T (p.Asn2630=)
c.8232C>T (p.Asn2744=)
c.8064C>T (p.Asn2688=)
c.8055C>T (p.Asn2685=)
c.8049C>T (p.Asn2683=)
c.7971C>T (p.Asn2657=)
c.7887C>T (p.Asn2629=)
n.353-6697G>A
c.7950C>T (p.Asn2650=)
c.3210C>T (p.Asn1070=)
n.392-6697G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219489107G>ACA65996901ASIC4-AS1,SPEGc.8203G>A (p.Val2735Met)
n.7446G>A
c.7921G>A (p.Val2641Met)
c.5827G>A (p.Val1943Met)
c.5656G>A (p.Val1886Met)
c.5842G>A (p.Val1948Met)
c.7891G>A (p.Val2631Met)
c.8233G>A (p.Val2745Met)
c.8065G>A (p.Val2689Met)
c.8056G>A (p.Val2686Met)
c.8050G>A (p.Val2684Met)
c.7972G>A (p.Val2658Met)
c.7888G>A (p.Val2630Met)
n.353-6698C>T
c.7951G>A (p.Val2651Met)
c.3211G>A (p.Val1071Met)
n.392-6698C>T
 dbSNP gnomAD v4
2g.219489107G>CCA350708635ASIC4-AS1,SPEGc.8203G>C (p.Val2735Leu)
n.7446G>C
c.7921G>C (p.Val2641Leu)
c.5827G>C (p.Val1943Leu)
c.5656G>C (p.Val1886Leu)
c.5842G>C (p.Val1948Leu)
c.7891G>C (p.Val2631Leu)
c.8233G>C (p.Val2745Leu)
c.8065G>C (p.Val2689Leu)
c.8056G>C (p.Val2686Leu)
c.8050G>C (p.Val2684Leu)
c.7972G>C (p.Val2658Leu)
c.7888G>C (p.Val2630Leu)
n.353-6698C>G
c.7951G>C (p.Val2651Leu)
c.3211G>C (p.Val1071Leu)
n.392-6698C>G
2g.219489107G=CA1329242200ASIC4-AS1,SPEGc.8203G= (p.Val2735=)
n.7446G=
c.7921G= (p.Val2641=)
c.5827G= (p.Val1943=)
c.5656G= (p.Val1886=)
c.5842G= (p.Val1948=)
c.7891G= (p.Val2631=)
c.8233G= (p.Val2745=)
c.8065G= (p.Val2689=)
c.8056G= (p.Val2686=)
c.8050G= (p.Val2684=)
c.7972G= (p.Val2658=)
c.7888G= (p.Val2630=)
n.353-6698C=
c.7951G= (p.Val2651=)
c.3211G= (p.Val1071=)
n.392-6698C=
2g.219489107G>TCA350708634ASIC4-AS1,SPEGc.8203G>T (p.Val2735Leu)
n.7446G>T
c.7921G>T (p.Val2641Leu)
c.5827G>T (p.Val1943Leu)
c.5656G>T (p.Val1886Leu)
c.5842G>T (p.Val1948Leu)
c.7891G>T (p.Val2631Leu)
c.8233G>T (p.Val2745Leu)
c.8065G>T (p.Val2689Leu)
c.8056G>T (p.Val2686Leu)
c.8050G>T (p.Val2684Leu)
c.7972G>T (p.Val2658Leu)
c.7888G>T (p.Val2630Leu)
n.353-6698C>A
c.7951G>T (p.Val2651Leu)
c.3211G>T (p.Val1071Leu)
n.392-6698C>A
2g.219489108T>ACA350708636ASIC4-AS1,SPEGc.8204T>A (p.Val2735Glu)
n.7447T>A
c.7922T>A (p.Val2641Glu)
c.5828T>A (p.Val1943Glu)
c.5657T>A (p.Val1886Glu)
c.5843T>A (p.Val1948Glu)
c.7892T>A (p.Val2631Glu)
c.8234T>A (p.Val2745Glu)
c.8066T>A (p.Val2689Glu)
c.8057T>A (p.Val2686Glu)
c.8051T>A (p.Val2684Glu)
c.7973T>A (p.Val2658Glu)
c.7889T>A (p.Val2630Glu)
n.353-6699A>T
c.7952T>A (p.Val2651Glu)
c.3212T>A (p.Val1071Glu)
n.392-6699A>T
2g.219489108T>CCA350708637ASIC4-AS1,SPEGc.8204T>C (p.Val2735Ala)
n.7447T>C
c.7922T>C (p.Val2641Ala)
c.5828T>C (p.Val1943Ala)
c.5657T>C (p.Val1886Ala)
c.5843T>C (p.Val1948Ala)
c.7892T>C (p.Val2631Ala)
c.8234T>C (p.Val2745Ala)
c.8066T>C (p.Val2689Ala)
c.8057T>C (p.Val2686Ala)
c.8051T>C (p.Val2684Ala)
c.7973T>C (p.Val2658Ala)
c.7889T>C (p.Val2630Ala)
n.353-6699A>G
c.7952T>C (p.Val2651Ala)
c.3212T>C (p.Val1071Ala)
n.392-6699A>G
2g.219489108T>GCA350708638ASIC4-AS1,SPEGc.8204T>G (p.Val2735Gly)
n.7447T>G
c.7922T>G (p.Val2641Gly)
c.5828T>G (p.Val1943Gly)
c.5657T>G (p.Val1886Gly)
c.5843T>G (p.Val1948Gly)
c.7892T>G (p.Val2631Gly)
c.8234T>G (p.Val2745Gly)
c.8066T>G (p.Val2689Gly)
c.8057T>G (p.Val2686Gly)
c.8051T>G (p.Val2684Gly)
c.7973T>G (p.Val2658Gly)
c.7889T>G (p.Val2630Gly)
n.353-6699A>C
c.7952T>G (p.Val2651Gly)
c.3212T>G (p.Val1071Gly)
n.392-6699A>C
2g.219489109G>ACA431431334ASIC4-AS1,SPEGc.8205G>A (p.Val2735=)
n.7448G>A
c.7923G>A (p.Val2641=)
c.5829G>A (p.Val1943=)
c.5658G>A (p.Val1886=)
c.5844G>A (p.Val1948=)
c.7893G>A (p.Val2631=)
c.8235G>A (p.Val2745=)
c.8067G>A (p.Val2689=)
c.8058G>A (p.Val2686=)
c.8052G>A (p.Val2684=)
c.7974G>A (p.Val2658=)
c.7890G>A (p.Val2630=)
n.353-6700C>T
c.7953G>A (p.Val2651=)
c.3213G>A (p.Val1071=)
n.392-6700C>T
2g.219489109G>CCA431431336ASIC4-AS1,SPEGc.8205G>C (p.Val2735=)
n.7448G>C
c.7923G>C (p.Val2641=)
c.5829G>C (p.Val1943=)
c.5658G>C (p.Val1886=)
c.5844G>C (p.Val1948=)
c.7893G>C (p.Val2631=)
c.8235G>C (p.Val2745=)
c.8067G>C (p.Val2689=)
c.8058G>C (p.Val2686=)
c.8052G>C (p.Val2684=)
c.7974G>C (p.Val2658=)
c.7890G>C (p.Val2630=)
n.353-6700C>G
c.7953G>C (p.Val2651=)
c.3213G>C (p.Val1071=)
n.392-6700C>G
2g.219489109G=CA1329242201ASIC4-AS1,SPEGc.8205G= (p.Val2735=)
n.7448G=
c.7923G= (p.Val2641=)
c.5829G= (p.Val1943=)
c.5658G= (p.Val1886=)
c.5844G= (p.Val1948=)
c.7893G= (p.Val2631=)
c.8235G= (p.Val2745=)
c.8067G= (p.Val2689=)
c.8058G= (p.Val2686=)
c.8052G= (p.Val2684=)
c.7974G= (p.Val2658=)
c.7890G= (p.Val2630=)
n.353-6700C=
c.7953G= (p.Val2651=)
c.3213G= (p.Val1071=)
n.392-6700C=
2g.219489109G>TCA431431337ASIC4-AS1,SPEGc.8205G>T (p.Val2735=)
n.7448G>T
c.7923G>T (p.Val2641=)
c.5829G>T (p.Val1943=)
c.5658G>T (p.Val1886=)
c.5844G>T (p.Val1948=)
c.7893G>T (p.Val2631=)
c.8235G>T (p.Val2745=)
c.8067G>T (p.Val2689=)
c.8058G>T (p.Val2686=)
c.8052G>T (p.Val2684=)
c.7974G>T (p.Val2658=)
c.7890G>T (p.Val2630=)
n.353-6700C>A
c.7953G>T (p.Val2651=)
c.3213G>T (p.Val1071=)
n.392-6700C>A
 dbSNP
2g.219489110A=CA1329242202ASIC4-AS1,SPEGc.8206A= (p.Thr2736=)
n.7449A=
c.7924A= (p.Thr2642=)
c.5830A= (p.Thr1944=)
c.5659A= (p.Thr1887=)
c.5845A= (p.Thr1949=)
c.7894A= (p.Thr2632=)
c.8236A= (p.Thr2746=)
c.8068A= (p.Thr2690=)
c.8059A= (p.Thr2687=)
c.8053A= (p.Thr2685=)
c.7975A= (p.Thr2659=)
c.7891A= (p.Thr2631=)
n.353-6701T=
c.7954A= (p.Thr2652=)
c.3214A= (p.Thr1072=)
n.392-6701T=
2g.219489110A>CCA350708639ASIC4-AS1,SPEGc.8206A>C (p.Thr2736Pro)
n.7449A>C
c.7924A>C (p.Thr2642Pro)
c.5830A>C (p.Thr1944Pro)
c.5659A>C (p.Thr1887Pro)
c.5845A>C (p.Thr1949Pro)
c.7894A>C (p.Thr2632Pro)
c.8236A>C (p.Thr2746Pro)
c.8068A>C (p.Thr2690Pro)
c.8059A>C (p.Thr2687Pro)
c.8053A>C (p.Thr2685Pro)
c.7975A>C (p.Thr2659Pro)
c.7891A>C (p.Thr2631Pro)
n.353-6701T>G
c.7954A>C (p.Thr2652Pro)
c.3214A>C (p.Thr1072Pro)
n.392-6701T>G
 dbSNP
2g.219489110A>GCA350708640ASIC4-AS1,SPEGc.8206A>G (p.Thr2736Ala)
n.7449A>G
c.7924A>G (p.Thr2642Ala)
c.5830A>G (p.Thr1944Ala)
c.5659A>G (p.Thr1887Ala)
c.5845A>G (p.Thr1949Ala)
c.7894A>G (p.Thr2632Ala)
c.8236A>G (p.Thr2746Ala)
c.8068A>G (p.Thr2690Ala)
c.8059A>G (p.Thr2687Ala)
c.8053A>G (p.Thr2685Ala)
c.7975A>G (p.Thr2659Ala)
c.7891A>G (p.Thr2631Ala)
n.353-6701T>C
c.7954A>G (p.Thr2652Ala)
c.3214A>G (p.Thr1072Ala)
n.392-6701T>C
2g.219489110A>TCA350708641ASIC4-AS1,SPEGc.8206A>T (p.Thr2736Ser)
n.7449A>T
c.7924A>T (p.Thr2642Ser)
c.5830A>T (p.Thr1944Ser)
c.5659A>T (p.Thr1887Ser)
c.5845A>T (p.Thr1949Ser)
c.7894A>T (p.Thr2632Ser)
c.8236A>T (p.Thr2746Ser)
c.8068A>T (p.Thr2690Ser)
c.8059A>T (p.Thr2687Ser)
c.8053A>T (p.Thr2685Ser)
c.7975A>T (p.Thr2659Ser)
c.7891A>T (p.Thr2631Ser)
n.353-6701T>A
c.7954A>T (p.Thr2652Ser)
c.3214A>T (p.Thr1072Ser)
n.392-6701T>A
2g.219489110dupCA2663271064ASIC4-AS1,SPEGc.8206dup (p.Thr2736AsnfsTer29)
n.7449dup
c.7924dup (p.Thr2642AsnfsTer29)
c.5830dup (p.Thr1944AsnfsTer29)
c.5659dup (p.Thr1887AsnfsTer29)
c.5845dup (p.Thr1949AsnfsTer29)
c.7894dup (p.Thr2632AsnfsTer29)
c.8236dup (p.Thr2746AsnfsTer29)
c.8068dup (p.Thr2690AsnfsTer29)
c.8059dup (p.Thr2687AsnfsTer29)
c.8053dup (p.Thr2685AsnfsTer29)
c.7975dup (p.Thr2659AsnfsTer29)
c.7891dup (p.Thr2631AsnfsTer29)
n.353-6701dup
c.7954dup (p.Thr2652AsnfsTer29)
c.3214dup (p.Thr1072AsnfsTer29)
n.392-6701dup
 gnomAD v4
2g.219489111C>ACA350708642ASIC4-AS1,SPEGc.8207C>A (p.Thr2736Asn)
n.7450C>A
c.7925C>A (p.Thr2642Asn)
c.5831C>A (p.Thr1944Asn)
c.5660C>A (p.Thr1887Asn)
c.5846C>A (p.Thr1949Asn)
c.7895C>A (p.Thr2632Asn)
c.8237C>A (p.Thr2746Asn)
c.8069C>A (p.Thr2690Asn)
c.8060C>A (p.Thr2687Asn)
c.8054C>A (p.Thr2685Asn)
c.7976C>A (p.Thr2659Asn)
c.7892C>A (p.Thr2631Asn)
n.353-6702G>T
c.7955C>A (p.Thr2652Asn)
c.3215C>A (p.Thr1072Asn)
n.392-6702G>T
 gnomAD v4
2g.219489111C>GCA350708643ASIC4-AS1,SPEGc.8207C>G (p.Thr2736Ser)
n.7450C>G
c.7925C>G (p.Thr2642Ser)
c.5831C>G (p.Thr1944Ser)
c.5660C>G (p.Thr1887Ser)
c.5846C>G (p.Thr1949Ser)
c.7895C>G (p.Thr2632Ser)
c.8237C>G (p.Thr2746Ser)
c.8069C>G (p.Thr2690Ser)
c.8060C>G (p.Thr2687Ser)
c.8054C>G (p.Thr2685Ser)
c.7976C>G (p.Thr2659Ser)
c.7892C>G (p.Thr2631Ser)
n.353-6702G>C
c.7955C>G (p.Thr2652Ser)
c.3215C>G (p.Thr1072Ser)
n.392-6702G>C
2g.219489111C>TCA350708644ASIC4-AS1,SPEGc.8207C>T (p.Thr2736Ile)
n.7450C>T
c.7925C>T (p.Thr2642Ile)
c.5831C>T (p.Thr1944Ile)
c.5660C>T (p.Thr1887Ile)
c.5846C>T (p.Thr1949Ile)
c.7895C>T (p.Thr2632Ile)
c.8237C>T (p.Thr2746Ile)
c.8069C>T (p.Thr2690Ile)
c.8060C>T (p.Thr2687Ile)
c.8054C>T (p.Thr2685Ile)
c.7976C>T (p.Thr2659Ile)
c.7892C>T (p.Thr2631Ile)
n.353-6702G>A
c.7955C>T (p.Thr2652Ile)
c.3215C>T (p.Thr1072Ile)
n.392-6702G>A
2g.219489112C>ACA431431342ASIC4-AS1,SPEGc.8208C>A (p.Thr2736=)
n.7451C>A
c.7926C>A (p.Thr2642=)
c.5832C>A (p.Thr1944=)
c.5661C>A (p.Thr1887=)
c.5847C>A (p.Thr1949=)
c.7896C>A (p.Thr2632=)
c.8238C>A (p.Thr2746=)
c.8070C>A (p.Thr2690=)
c.8061C>A (p.Thr2687=)
c.8055C>A (p.Thr2685=)
c.7977C>A (p.Thr2659=)
c.7893C>A (p.Thr2631=)
n.353-6703G>T
c.7956C>A (p.Thr2652=)
c.3216C>A (p.Thr1072=)
n.392-6703G>T
2g.219489112C>GCA431431347ASIC4-AS1,SPEGc.8208C>G (p.Thr2736=)
n.7451C>G
c.7926C>G (p.Thr2642=)
c.5832C>G (p.Thr1944=)
c.5661C>G (p.Thr1887=)
c.5847C>G (p.Thr1949=)
c.7896C>G (p.Thr2632=)
c.8238C>G (p.Thr2746=)
c.8070C>G (p.Thr2690=)
c.8061C>G (p.Thr2687=)
c.8055C>G (p.Thr2685=)
c.7977C>G (p.Thr2659=)
c.7893C>G (p.Thr2631=)
n.353-6703G>C
c.7956C>G (p.Thr2652=)
c.3216C>G (p.Thr1072=)
n.392-6703G>C
2g.219489112C>TCA431431349ASIC4-AS1,SPEGc.8208C>T (p.Thr2736=)
n.7451C>T
c.7926C>T (p.Thr2642=)
c.5832C>T (p.Thr1944=)
c.5661C>T (p.Thr1887=)
c.5847C>T (p.Thr1949=)
c.7896C>T (p.Thr2632=)
c.8238C>T (p.Thr2746=)
c.8070C>T (p.Thr2690=)
c.8061C>T (p.Thr2687=)
c.8055C>T (p.Thr2685=)
c.7977C>T (p.Thr2659=)
c.7893C>T (p.Thr2631=)
n.353-6703G>A
c.7956C>T (p.Thr2652=)
c.3216C>T (p.Thr1072=)
n.392-6703G>A
2g.219489113C>ACA350708645ASIC4-AS1,SPEGc.8209C>A (p.His2737Asn)
n.7452C>A
c.7927C>A (p.His2643Asn)
c.5833C>A (p.His1945Asn)
c.5662C>A (p.His1888Asn)
c.5848C>A (p.His1950Asn)
c.7897C>A (p.His2633Asn)
c.8239C>A (p.His2747Asn)
c.8071C>A (p.His2691Asn)
c.8062C>A (p.His2688Asn)
c.8056C>A (p.His2686Asn)
c.7978C>A (p.His2660Asn)
c.7894C>A (p.His2632Asn)
n.353-6704G>T
c.7957C>A (p.His2653Asn)
c.3217C>A (p.His1073Asn)
n.392-6704G>T
 ClinVar dbSNP COSMIC
2g.219489113C>GCA350708646ASIC4-AS1,SPEGc.8209C>G (p.His2737Asp)
n.7452C>G
c.7927C>G (p.His2643Asp)
c.5833C>G (p.His1945Asp)
c.5662C>G (p.His1888Asp)
c.5848C>G (p.His1950Asp)
c.7897C>G (p.His2633Asp)
c.8239C>G (p.His2747Asp)
c.8071C>G (p.His2691Asp)
c.8062C>G (p.His2688Asp)
c.8056C>G (p.His2686Asp)
c.7978C>G (p.His2660Asp)
c.7894C>G (p.His2632Asp)
n.353-6704G>C
c.7957C>G (p.His2653Asp)
c.3217C>G (p.His1073Asp)
n.392-6704G>C
2g.219489113C>TCA350708647ASIC4-AS1,SPEGc.8209C>T (p.His2737Tyr)
n.7452C>T
c.7927C>T (p.His2643Tyr)
c.5833C>T (p.His1945Tyr)
c.5662C>T (p.His1888Tyr)
c.5848C>T (p.His1950Tyr)
c.7897C>T (p.His2633Tyr)
c.8239C>T (p.His2747Tyr)
c.8071C>T (p.His2691Tyr)
c.8062C>T (p.His2688Tyr)
c.8056C>T (p.His2686Tyr)
c.7978C>T (p.His2660Tyr)
c.7894C>T (p.His2632Tyr)
n.353-6704G>A
c.7957C>T (p.His2653Tyr)
c.3217C>T (p.His1073Tyr)
n.392-6704G>A
2g.219489114A=CA1329242203ASIC4-AS1,SPEGc.8210A= (p.His2737=)
n.7453A=
c.7928A= (p.His2643=)
c.5834A= (p.His1945=)
c.5663A= (p.His1888=)
c.5849A= (p.His1950=)
c.7898A= (p.His2633=)
c.8240A= (p.His2747=)
c.8072A= (p.His2691=)
c.8063A= (p.His2688=)
c.8057A= (p.His2686=)
c.7979A= (p.His2660=)
c.7895A= (p.His2632=)
n.353-6705T=
c.7958A= (p.His2653=)
c.3218A= (p.His1073=)
n.392-6705T=
2g.219489114A>CCA65996907ASIC4-AS1,SPEGc.8210A>C (p.His2737Pro)
n.7453A>C
c.7928A>C (p.His2643Pro)
c.5834A>C (p.His1945Pro)
c.5663A>C (p.His1888Pro)
c.5849A>C (p.His1950Pro)
c.7898A>C (p.His2633Pro)
c.8240A>C (p.His2747Pro)
c.8072A>C (p.His2691Pro)
c.8063A>C (p.His2688Pro)
c.8057A>C (p.His2686Pro)
c.7979A>C (p.His2660Pro)
c.7895A>C (p.His2632Pro)
n.353-6705T>G
c.7958A>C (p.His2653Pro)
c.3218A>C (p.His1073Pro)
n.392-6705T>G
 dbSNP gnomAD v3 gnomAD v4
2g.219489114A>GCA350708649ASIC4-AS1,SPEGc.8210A>G (p.His2737Arg)
n.7453A>G
c.7928A>G (p.His2643Arg)
c.5834A>G (p.His1945Arg)
c.5663A>G (p.His1888Arg)
c.5849A>G (p.His1950Arg)
c.7898A>G (p.His2633Arg)
c.8240A>G (p.His2747Arg)
c.8072A>G (p.His2691Arg)
c.8063A>G (p.His2688Arg)
c.8057A>G (p.His2686Arg)
c.7979A>G (p.His2660Arg)
c.7895A>G (p.His2632Arg)
n.353-6705T>C
c.7958A>G (p.His2653Arg)
c.3218A>G (p.His1073Arg)
n.392-6705T>C
2g.219489114A>TCA350708648ASIC4-AS1,SPEGc.8210A>T (p.His2737Leu)
n.7453A>T
c.7928A>T (p.His2643Leu)
c.5834A>T (p.His1945Leu)
c.5663A>T (p.His1888Leu)
c.5849A>T (p.His1950Leu)
c.7898A>T (p.His2633Leu)
c.8240A>T (p.His2747Leu)
c.8072A>T (p.His2691Leu)
c.8063A>T (p.His2688Leu)
c.8057A>T (p.His2686Leu)
c.7979A>T (p.His2660Leu)
c.7895A>T (p.His2632Leu)
n.353-6705T>A
c.7958A>T (p.His2653Leu)
c.3218A>T (p.His1073Leu)
n.392-6705T>A
2g.219489115C>ACA350708650ASIC4-AS1,SPEGc.8211C>A (p.His2737Gln)
n.7454C>A
c.7929C>A (p.His2643Gln)
c.5835C>A (p.His1945Gln)
c.5664C>A (p.His1888Gln)
c.5850C>A (p.His1950Gln)
c.7899C>A (p.His2633Gln)
c.8241C>A (p.His2747Gln)
c.8073C>A (p.His2691Gln)
c.8064C>A (p.His2688Gln)
c.8058C>A (p.His2686Gln)
c.7980C>A (p.His2660Gln)
c.7896C>A (p.His2632Gln)
n.353-6706G>T
c.7959C>A (p.His2653Gln)
c.3219C>A (p.His1073Gln)
n.392-6706G>T
2g.219489115C>GCA350708651ASIC4-AS1,SPEGc.8211C>G (p.His2737Gln)
n.7454C>G
c.7929C>G (p.His2643Gln)
c.5835C>G (p.His1945Gln)
c.5664C>G (p.His1888Gln)
c.5850C>G (p.His1950Gln)
c.7899C>G (p.His2633Gln)
c.8241C>G (p.His2747Gln)
c.8073C>G (p.His2691Gln)
c.8064C>G (p.His2688Gln)
c.8058C>G (p.His2686Gln)
c.7980C>G (p.His2660Gln)
c.7896C>G (p.His2632Gln)
n.353-6706G>C
c.7959C>G (p.His2653Gln)
c.3219C>G (p.His1073Gln)
n.392-6706G>C
2g.219489115C>TCA431431356ASIC4-AS1,SPEGc.8211C>T (p.His2737=)
n.7454C>T
c.7929C>T (p.His2643=)
c.5835C>T (p.His1945=)
c.5664C>T (p.His1888=)
c.5850C>T (p.His1950=)
c.7899C>T (p.His2633=)
c.8241C>T (p.His2747=)
c.8073C>T (p.His2691=)
c.8064C>T (p.His2688=)
c.8058C>T (p.His2686=)
c.7980C>T (p.His2660=)
c.7896C>T (p.His2632=)
n.353-6706G>A
c.7959C>T (p.His2653=)
c.3219C>T (p.His1073=)
n.392-6706G>A
2g.219489116C>ACA350708652ASIC4-AS1,SPEGc.8212C>A (p.Leu2738Met)
n.7455C>A
c.7930C>A (p.Leu2644Met)
c.5836C>A (p.Leu1946Met)
c.5665C>A (p.Leu1889Met)
c.5851C>A (p.Leu1951Met)
c.7900C>A (p.Leu2634Met)
c.8242C>A (p.Leu2748Met)
c.8074C>A (p.Leu2692Met)
c.8065C>A (p.Leu2689Met)
c.8059C>A (p.Leu2687Met)
c.7981C>A (p.Leu2661Met)
c.7897C>A (p.Leu2633Met)
n.353-6707G>T
c.7960C>A (p.Leu2654Met)
c.3220C>A (p.Leu1074Met)
n.392-6707G>T
2g.219489116C=CA1329242204ASIC4-AS1,SPEGc.8212C= (p.Leu2738=)
n.7455C=
c.7930C= (p.Leu2644=)
c.5836C= (p.Leu1946=)
c.5665C= (p.Leu1889=)
c.5851C= (p.Leu1951=)
c.7900C= (p.Leu2634=)
c.8242C= (p.Leu2748=)
c.8074C= (p.Leu2692=)
c.8065C= (p.Leu2689=)
c.8059C= (p.Leu2687=)
c.7981C= (p.Leu2661=)
c.7897C= (p.Leu2633=)
n.353-6707G=
c.7960C= (p.Leu2654=)
c.3220C= (p.Leu1074=)
n.392-6707G=
2g.219489116C>GCA350708653ASIC4-AS1,SPEGc.8212C>G (p.Leu2738Val)
n.7455C>G
c.7930C>G (p.Leu2644Val)
c.5836C>G (p.Leu1946Val)
c.5665C>G (p.Leu1889Val)
c.5851C>G (p.Leu1951Val)
c.7900C>G (p.Leu2634Val)
c.8242C>G (p.Leu2748Val)
c.8074C>G (p.Leu2692Val)
c.8065C>G (p.Leu2689Val)
c.8059C>G (p.Leu2687Val)
c.7981C>G (p.Leu2661Val)
c.7897C>G (p.Leu2633Val)
n.353-6707G>C
c.7960C>G (p.Leu2654Val)
c.3220C>G (p.Leu1074Val)
n.392-6707G>C
2g.219489116C>TCA431431361ASIC4-AS1,SPEGc.8212C>T (p.Leu2738=)
n.7455C>T
c.7930C>T (p.Leu2644=)
c.5836C>T (p.Leu1946=)
c.5665C>T (p.Leu1889=)
c.5851C>T (p.Leu1951=)
c.7900C>T (p.Leu2634=)
c.8242C>T (p.Leu2748=)
c.8074C>T (p.Leu2692=)
c.8065C>T (p.Leu2689=)
c.8059C>T (p.Leu2687=)
c.7981C>T (p.Leu2661=)
c.7897C>T (p.Leu2633=)
n.353-6707G>A
c.7960C>T (p.Leu2654=)
c.3220C>T (p.Leu1074=)
n.392-6707G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489117T>ACA350708654ASIC4-AS1,SPEGc.8213T>A (p.Leu2738Gln)
n.7456T>A
c.7931T>A (p.Leu2644Gln)
c.5837T>A (p.Leu1946Gln)
c.5666T>A (p.Leu1889Gln)
c.5852T>A (p.Leu1951Gln)
c.7901T>A (p.Leu2634Gln)
c.8243T>A (p.Leu2748Gln)
c.8075T>A (p.Leu2692Gln)
c.8066T>A (p.Leu2689Gln)
c.8060T>A (p.Leu2687Gln)
c.7982T>A (p.Leu2661Gln)
c.7898T>A (p.Leu2633Gln)
n.353-6708A>T
c.7961T>A (p.Leu2654Gln)
c.3221T>A (p.Leu1074Gln)
n.392-6708A>T
2g.219489117T>CCA350708655ASIC4-AS1,SPEGc.8213T>C (p.Leu2738Pro)
n.7456T>C
c.7931T>C (p.Leu2644Pro)
c.5837T>C (p.Leu1946Pro)
c.5666T>C (p.Leu1889Pro)
c.5852T>C (p.Leu1951Pro)
c.7901T>C (p.Leu2634Pro)
c.8243T>C (p.Leu2748Pro)
c.8075T>C (p.Leu2692Pro)
c.8066T>C (p.Leu2689Pro)
c.8060T>C (p.Leu2687Pro)
c.7982T>C (p.Leu2661Pro)
c.7898T>C (p.Leu2633Pro)
n.353-6708A>G
c.7961T>C (p.Leu2654Pro)
c.3221T>C (p.Leu1074Pro)
n.392-6708A>G
2g.219489117T>GCA350708656ASIC4-AS1,SPEGc.8213T>G (p.Leu2738Arg)
n.7456T>G
c.7931T>G (p.Leu2644Arg)
c.5837T>G (p.Leu1946Arg)
c.5666T>G (p.Leu1889Arg)
c.5852T>G (p.Leu1951Arg)
c.7901T>G (p.Leu2634Arg)
c.8243T>G (p.Leu2748Arg)
c.8075T>G (p.Leu2692Arg)
c.8066T>G (p.Leu2689Arg)
c.8060T>G (p.Leu2687Arg)
c.7982T>G (p.Leu2661Arg)
c.7898T>G (p.Leu2633Arg)
n.353-6708A>C
c.7961T>G (p.Leu2654Arg)
c.3221T>G (p.Leu1074Arg)
n.392-6708A>C
2g.219489118G>ACA431431364ASIC4-AS1,SPEGc.8214G>A (p.Leu2738=)
n.7457G>A
c.7932G>A (p.Leu2644=)
c.5838G>A (p.Leu1946=)
c.5667G>A (p.Leu1889=)
c.5853G>A (p.Leu1951=)
c.7902G>A (p.Leu2634=)
c.8244G>A (p.Leu2748=)
c.8076G>A (p.Leu2692=)
c.8067G>A (p.Leu2689=)
c.8061G>A (p.Leu2687=)
c.7983G>A (p.Leu2661=)
c.7899G>A (p.Leu2633=)
n.353-6709C>T
c.7962G>A (p.Leu2654=)
c.3222G>A (p.Leu1074=)
n.392-6709C>T
2g.219489118G>CCA431431368ASIC4-AS1,SPEGc.8214G>C (p.Leu2738=)
n.7457G>C
c.7932G>C (p.Leu2644=)
c.5838G>C (p.Leu1946=)
c.5667G>C (p.Leu1889=)
c.5853G>C (p.Leu1951=)
c.7902G>C (p.Leu2634=)
c.8244G>C (p.Leu2748=)
c.8076G>C (p.Leu2692=)
c.8067G>C (p.Leu2689=)
c.8061G>C (p.Leu2687=)
c.7983G>C (p.Leu2661=)
c.7899G>C (p.Leu2633=)
n.353-6709C>G
c.7962G>C (p.Leu2654=)
c.3222G>C (p.Leu1074=)
n.392-6709C>G
2g.219489118G>TCA431431369ASIC4-AS1,SPEGc.8214G>T (p.Leu2738=)
n.7457G>T
c.7932G>T (p.Leu2644=)
c.5838G>T (p.Leu1946=)
c.5667G>T (p.Leu1889=)
c.5853G>T (p.Leu1951=)
c.7902G>T (p.Leu2634=)
c.8244G>T (p.Leu2748=)
c.8076G>T (p.Leu2692=)
c.8067G>T (p.Leu2689=)
c.8061G>T (p.Leu2687=)
c.7983G>T (p.Leu2661=)
c.7899G>T (p.Leu2633=)
n.353-6709C>A
c.7962G>T (p.Leu2654=)
c.3222G>T (p.Leu1074=)
n.392-6709C>A
 gnomAD v4
2g.219489119C>ACA350708657ASIC4-AS1,SPEGc.8215C>A (p.Pro2739Thr)
n.7458C>A
c.7933C>A (p.Pro2645Thr)
c.5839C>A (p.Pro1947Thr)
c.5668C>A (p.Pro1890Thr)
c.5854C>A (p.Pro1952Thr)
c.7903C>A (p.Pro2635Thr)
c.8245C>A (p.Pro2749Thr)
c.8077C>A (p.Pro2693Thr)
c.8068C>A (p.Pro2690Thr)
c.8062C>A (p.Pro2688Thr)
c.7984C>A (p.Pro2662Thr)
c.7900C>A (p.Pro2634Thr)
n.353-6710G>T
c.7963C>A (p.Pro2655Thr)
c.3223C>A (p.Pro1075Thr)
n.392-6710G>T
2g.219489119C>GCA350708658ASIC4-AS1,SPEGc.8215C>G (p.Pro2739Ala)
n.7458C>G
c.7933C>G (p.Pro2645Ala)
c.5839C>G (p.Pro1947Ala)
c.5668C>G (p.Pro1890Ala)
c.5854C>G (p.Pro1952Ala)
c.7903C>G (p.Pro2635Ala)
c.8245C>G (p.Pro2749Ala)
c.8077C>G (p.Pro2693Ala)
c.8068C>G (p.Pro2690Ala)
c.8062C>G (p.Pro2688Ala)
c.7984C>G (p.Pro2662Ala)
c.7900C>G (p.Pro2634Ala)
n.353-6710G>C
c.7963C>G (p.Pro2655Ala)
c.3223C>G (p.Pro1075Ala)
n.392-6710G>C
2g.219489119C>TCA350708659ASIC4-AS1,SPEGc.8215C>T (p.Pro2739Ser)
n.7458C>T
c.7933C>T (p.Pro2645Ser)
c.5839C>T (p.Pro1947Ser)
c.5668C>T (p.Pro1890Ser)
c.5854C>T (p.Pro1952Ser)
c.7903C>T (p.Pro2635Ser)
c.8245C>T (p.Pro2749Ser)
c.8077C>T (p.Pro2693Ser)
c.8068C>T (p.Pro2690Ser)
c.8062C>T (p.Pro2688Ser)
c.7984C>T (p.Pro2662Ser)
c.7900C>T (p.Pro2634Ser)
n.353-6710G>A
c.7963C>T (p.Pro2655Ser)
c.3223C>T (p.Pro1075Ser)
n.392-6710G>A
2g.219489120C>ACA350708660ASIC4-AS1,SPEGc.8216C>A (p.Pro2739Gln)
n.7459C>A
c.7934C>A (p.Pro2645Gln)
c.5840C>A (p.Pro1947Gln)
c.5669C>A (p.Pro1890Gln)
c.5855C>A (p.Pro1952Gln)
c.7904C>A (p.Pro2635Gln)
c.8246C>A (p.Pro2749Gln)
c.8078C>A (p.Pro2693Gln)
c.8069C>A (p.Pro2690Gln)
c.8063C>A (p.Pro2688Gln)
c.7985C>A (p.Pro2662Gln)
c.7901C>A (p.Pro2634Gln)
n.353-6711G>T
c.7964C>A (p.Pro2655Gln)
c.3224C>A (p.Pro1075Gln)
n.392-6711G>T
2g.219489120C>GCA350708661ASIC4-AS1,SPEGc.8216C>G (p.Pro2739Arg)
n.7459C>G
c.7934C>G (p.Pro2645Arg)
c.5840C>G (p.Pro1947Arg)
c.5669C>G (p.Pro1890Arg)
c.5855C>G (p.Pro1952Arg)
c.7904C>G (p.Pro2635Arg)
c.8246C>G (p.Pro2749Arg)
c.8078C>G (p.Pro2693Arg)
c.8069C>G (p.Pro2690Arg)
c.8063C>G (p.Pro2688Arg)
c.7985C>G (p.Pro2662Arg)
c.7901C>G (p.Pro2634Arg)
n.353-6711G>C
c.7964C>G (p.Pro2655Arg)
c.3224C>G (p.Pro1075Arg)
n.392-6711G>C
2g.219489120C>TCA350708662ASIC4-AS1,SPEGc.8216C>T (p.Pro2739Leu)
n.7459C>T
c.7934C>T (p.Pro2645Leu)
c.5840C>T (p.Pro1947Leu)
c.5669C>T (p.Pro1890Leu)
c.5855C>T (p.Pro1952Leu)
c.7904C>T (p.Pro2635Leu)
c.8246C>T (p.Pro2749Leu)
c.8078C>T (p.Pro2693Leu)
c.8069C>T (p.Pro2690Leu)
c.8063C>T (p.Pro2688Leu)
c.7985C>T (p.Pro2662Leu)
c.7901C>T (p.Pro2634Leu)
n.353-6711G>A
c.7964C>T (p.Pro2655Leu)
c.3224C>T (p.Pro1075Leu)
n.392-6711G>A
 gnomAD v4
2g.219489121A=CA1329242205ASIC4-AS1,SPEGc.8217A= (p.Pro2739=)
n.7460A=
c.7935A= (p.Pro2645=)
c.5841A= (p.Pro1947=)
c.5670A= (p.Pro1890=)
c.5856A= (p.Pro1952=)
c.7905A= (p.Pro2635=)
c.8247A= (p.Pro2749=)
c.8079A= (p.Pro2693=)
c.8070A= (p.Pro2690=)
c.8064A= (p.Pro2688=)
c.7986A= (p.Pro2662=)
c.7902A= (p.Pro2634=)
n.353-6712T=
c.7965A= (p.Pro2655=)
c.3225A= (p.Pro1075=)
n.392-6712T=
2g.219489121A>CCA431431377ASIC4-AS1,SPEGc.8217A>C (p.Pro2739=)
n.7460A>C
c.7935A>C (p.Pro2645=)
c.5841A>C (p.Pro1947=)
c.5670A>C (p.Pro1890=)
c.5856A>C (p.Pro1952=)
c.7905A>C (p.Pro2635=)
c.8247A>C (p.Pro2749=)
c.8079A>C (p.Pro2693=)
c.8070A>C (p.Pro2690=)
c.8064A>C (p.Pro2688=)
c.7986A>C (p.Pro2662=)
c.7902A>C (p.Pro2634=)
n.353-6712T>G
c.7965A>C (p.Pro2655=)
c.3225A>C (p.Pro1075=)
n.392-6712T>G
2g.219489121A>GCA431431378ASIC4-AS1,SPEGc.8217A>G (p.Pro2739=)
n.7460A>G
c.7935A>G (p.Pro2645=)
c.5841A>G (p.Pro1947=)
c.5670A>G (p.Pro1890=)
c.5856A>G (p.Pro1952=)
c.7905A>G (p.Pro2635=)
c.8247A>G (p.Pro2749=)
c.8079A>G (p.Pro2693=)
c.8070A>G (p.Pro2690=)
c.8064A>G (p.Pro2688=)
c.7986A>G (p.Pro2662=)
c.7902A>G (p.Pro2634=)
n.353-6712T>C
c.7965A>G (p.Pro2655=)
c.3225A>G (p.Pro1075=)
n.392-6712T>C
 dbSNP
2g.219489121A>TCA431431379ASIC4-AS1,SPEGc.8217A>T (p.Pro2739=)
n.7460A>T
c.7935A>T (p.Pro2645=)
c.5841A>T (p.Pro1947=)
c.5670A>T (p.Pro1890=)
c.5856A>T (p.Pro1952=)
c.7905A>T (p.Pro2635=)
c.8247A>T (p.Pro2749=)
c.8079A>T (p.Pro2693=)
c.8070A>T (p.Pro2690=)
c.8064A>T (p.Pro2688=)
c.7986A>T (p.Pro2662=)
c.7902A>T (p.Pro2634=)
n.353-6712T>A
c.7965A>T (p.Pro2655=)
c.3225A>T (p.Pro1075=)
n.392-6712T>A
2g.219489122G>ACA350708665ASIC4-AS1,SPEGc.8218G>A (p.Val2740Ile)
n.7461G>A
c.7936G>A (p.Val2646Ile)
c.5842G>A (p.Val1948Ile)
c.5671G>A (p.Val1891Ile)
c.5857G>A (p.Val1953Ile)
c.7906G>A (p.Val2636Ile)
c.8248G>A (p.Val2750Ile)
c.8080G>A (p.Val2694Ile)
c.8071G>A (p.Val2691Ile)
c.8065G>A (p.Val2689Ile)
c.7987G>A (p.Val2663Ile)
c.7903G>A (p.Val2635Ile)
n.353-6713C>T
c.7966G>A (p.Val2656Ile)
c.3226G>A (p.Val1076Ile)
n.392-6713C>T
2g.219489122G>CCA350708663ASIC4-AS1,SPEGc.8218G>C (p.Val2740Leu)
n.7461G>C
c.7936G>C (p.Val2646Leu)
c.5842G>C (p.Val1948Leu)
c.5671G>C (p.Val1891Leu)
c.5857G>C (p.Val1953Leu)
c.7906G>C (p.Val2636Leu)
c.8248G>C (p.Val2750Leu)
c.8080G>C (p.Val2694Leu)
c.8071G>C (p.Val2691Leu)
c.8065G>C (p.Val2689Leu)
c.7987G>C (p.Val2663Leu)
c.7903G>C (p.Val2635Leu)
n.353-6713C>G
c.7966G>C (p.Val2656Leu)
c.3226G>C (p.Val1076Leu)
n.392-6713C>G
2g.219489122G>TCA350708664ASIC4-AS1,SPEGc.8218G>T (p.Val2740Phe)
n.7461G>T
c.7936G>T (p.Val2646Phe)
c.5842G>T (p.Val1948Phe)
c.5671G>T (p.Val1891Phe)
c.5857G>T (p.Val1953Phe)
c.7906G>T (p.Val2636Phe)
c.8248G>T (p.Val2750Phe)
c.8080G>T (p.Val2694Phe)
c.8071G>T (p.Val2691Phe)
c.8065G>T (p.Val2689Phe)
c.7987G>T (p.Val2663Phe)
c.7903G>T (p.Val2635Phe)
n.353-6713C>A
c.7966G>T (p.Val2656Phe)
c.3226G>T (p.Val1076Phe)
n.392-6713C>A
2g.219489123T>ACA350708666ASIC4-AS1,SPEGc.8219T>A (p.Val2740Asp)
n.7462T>A
c.7937T>A (p.Val2646Asp)
c.5843T>A (p.Val1948Asp)
c.5672T>A (p.Val1891Asp)
c.5858T>A (p.Val1953Asp)
c.7907T>A (p.Val2636Asp)
c.8249T>A (p.Val2750Asp)
c.8081T>A (p.Val2694Asp)
c.8072T>A (p.Val2691Asp)
c.8066T>A (p.Val2689Asp)
c.7988T>A (p.Val2663Asp)
c.7904T>A (p.Val2635Asp)
n.353-6714A>T
c.7967T>A (p.Val2656Asp)
c.3227T>A (p.Val1076Asp)
n.392-6714A>T
 dbSNP gnomAD v2 gnomAD v4
2g.219489123T>CCA350708667ASIC4-AS1,SPEGc.8219T>C (p.Val2740Ala)
n.7462T>C
c.7937T>C (p.Val2646Ala)
c.5843T>C (p.Val1948Ala)
c.5672T>C (p.Val1891Ala)
c.5858T>C (p.Val1953Ala)
c.7907T>C (p.Val2636Ala)
c.8249T>C (p.Val2750Ala)
c.8081T>C (p.Val2694Ala)
c.8072T>C (p.Val2691Ala)
c.8066T>C (p.Val2689Ala)
c.7988T>C (p.Val2663Ala)
c.7904T>C (p.Val2635Ala)
n.353-6714A>G
c.7967T>C (p.Val2656Ala)
c.3227T>C (p.Val1076Ala)
n.392-6714A>G
 dbSNP gnomAD v3 gnomAD v4
2g.219489123T>GCA350708668ASIC4-AS1,SPEGc.8219T>G (p.Val2740Gly)
n.7462T>G
c.7937T>G (p.Val2646Gly)
c.5843T>G (p.Val1948Gly)
c.5672T>G (p.Val1891Gly)
c.5858T>G (p.Val1953Gly)
c.7907T>G (p.Val2636Gly)
c.8249T>G (p.Val2750Gly)
c.8081T>G (p.Val2694Gly)
c.8072T>G (p.Val2691Gly)
c.8066T>G (p.Val2689Gly)
c.7988T>G (p.Val2663Gly)
c.7904T>G (p.Val2635Gly)
n.353-6714A>C
c.7967T>G (p.Val2656Gly)
c.3227T>G (p.Val1076Gly)
n.392-6714A>C
2g.219489123T=CA1329242206ASIC4-AS1,SPEGc.8219T= (p.Val2740=)
n.7462T=
c.7937T= (p.Val2646=)
c.5843T= (p.Val1948=)
c.5672T= (p.Val1891=)
c.5858T= (p.Val1953=)
c.7907T= (p.Val2636=)
c.8249T= (p.Val2750=)
c.8081T= (p.Val2694=)
c.8072T= (p.Val2691=)
c.8066T= (p.Val2689=)
c.7988T= (p.Val2663=)
c.7904T= (p.Val2635=)
n.353-6714A=
c.7967T= (p.Val2656=)
c.3227T= (p.Val1076=)
n.392-6714A=
2g.219489124T>ACA431431384ASIC4-AS1,SPEGc.8220T>A (p.Val2740=)
n.7463T>A
c.7938T>A (p.Val2646=)
c.5844T>A (p.Val1948=)
c.5673T>A (p.Val1891=)
c.5859T>A (p.Val1953=)
c.7908T>A (p.Val2636=)
c.8250T>A (p.Val2750=)
c.8082T>A (p.Val2694=)
c.8073T>A (p.Val2691=)
c.8067T>A (p.Val2689=)
c.7989T>A (p.Val2663=)
c.7905T>A (p.Val2635=)
n.353-6715A>T
c.7968T>A (p.Val2656=)
c.3228T>A (p.Val1076=)
n.392-6715A>T
2g.219489124T>CCA431431387ASIC4-AS1,SPEGc.8220T>C (p.Val2740=)
n.7463T>C
c.7938T>C (p.Val2646=)
c.5844T>C (p.Val1948=)
c.5673T>C (p.Val1891=)
c.5859T>C (p.Val1953=)
c.7908T>C (p.Val2636=)
c.8250T>C (p.Val2750=)
c.8082T>C (p.Val2694=)
c.8073T>C (p.Val2691=)
c.8067T>C (p.Val2689=)
c.7989T>C (p.Val2663=)
c.7905T>C (p.Val2635=)
n.353-6715A>G
c.7968T>C (p.Val2656=)
c.3228T>C (p.Val1076=)
n.392-6715A>G
2g.219489124T>GCA431431385ASIC4-AS1,SPEGc.8220T>G (p.Val2740=)
n.7463T>G
c.7938T>G (p.Val2646=)
c.5844T>G (p.Val1948=)
c.5673T>G (p.Val1891=)
c.5859T>G (p.Val1953=)
c.7908T>G (p.Val2636=)
c.8250T>G (p.Val2750=)
c.8082T>G (p.Val2694=)
c.8073T>G (p.Val2691=)
c.8067T>G (p.Val2689=)
c.7989T>G (p.Val2663=)
c.7905T>G (p.Val2635=)
n.353-6715A>C
c.7968T>G (p.Val2656=)
c.3228T>G (p.Val1076=)
n.392-6715A>C
2g.219489125G>ACA350708669ASIC4-AS1,SPEGc.8221G>A (p.Gly2741Ser)
n.7464G>A
c.7939G>A (p.Gly2647Ser)
c.5845G>A (p.Gly1949Ser)
c.5674G>A (p.Gly1892Ser)
c.5860G>A (p.Gly1954Ser)
c.7909G>A (p.Gly2637Ser)
c.8251G>A (p.Gly2751Ser)
c.8083G>A (p.Gly2695Ser)
c.8074G>A (p.Gly2692Ser)
c.8068G>A (p.Gly2690Ser)
c.7990G>A (p.Gly2664Ser)
c.7906G>A (p.Gly2636Ser)
n.353-6716C>T
c.7969G>A (p.Gly2657Ser)
c.3229G>A (p.Gly1077Ser)
n.392-6716C>T
 dbSNP
2g.219489125G>CCA350708670ASIC4-AS1,SPEGc.8221G>C (p.Gly2741Arg)
n.7464G>C
c.7939G>C (p.Gly2647Arg)
c.5845G>C (p.Gly1949Arg)
c.5674G>C (p.Gly1892Arg)
c.5860G>C (p.Gly1954Arg)
c.7909G>C (p.Gly2637Arg)
c.8251G>C (p.Gly2751Arg)
c.8083G>C (p.Gly2695Arg)
c.8074G>C (p.Gly2692Arg)
c.8068G>C (p.Gly2690Arg)
c.7990G>C (p.Gly2664Arg)
c.7906G>C (p.Gly2636Arg)
n.353-6716C>G
c.7969G>C (p.Gly2657Arg)
c.3229G>C (p.Gly1077Arg)
n.392-6716C>G
2g.219489125G>TCA350708671ASIC4-AS1,SPEGc.8221G>T (p.Gly2741Cys)
n.7464G>T
c.7939G>T (p.Gly2647Cys)
c.5845G>T (p.Gly1949Cys)
c.5674G>T (p.Gly1892Cys)
c.5860G>T (p.Gly1954Cys)
c.7909G>T (p.Gly2637Cys)
c.8251G>T (p.Gly2751Cys)
c.8083G>T (p.Gly2695Cys)
c.8074G>T (p.Gly2692Cys)
c.8068G>T (p.Gly2690Cys)
c.7990G>T (p.Gly2664Cys)
c.7906G>T (p.Gly2636Cys)
n.353-6716C>A
c.7969G>T (p.Gly2657Cys)
c.3229G>T (p.Gly1077Cys)
n.392-6716C>A
2g.219489126G>ACA65996910ASIC4-AS1,SPEGc.8222G>A (p.Gly2741Asp)
n.7465G>A
c.7940G>A (p.Gly2647Asp)
c.5846G>A (p.Gly1949Asp)
c.5675G>A (p.Gly1892Asp)
c.5861G>A (p.Gly1954Asp)
c.7910G>A (p.Gly2637Asp)
c.8252G>A (p.Gly2751Asp)
c.8084G>A (p.Gly2695Asp)
c.8075G>A (p.Gly2692Asp)
c.8069G>A (p.Gly2690Asp)
c.7991G>A (p.Gly2664Asp)
c.7907G>A (p.Gly2636Asp)
n.353-6717C>T
c.7970G>A (p.Gly2657Asp)
c.3230G>A (p.Gly1077Asp)
n.392-6717C>T
 dbSNP
2g.219489126G>CCA350708672ASIC4-AS1,SPEGc.8222G>C (p.Gly2741Ala)
n.7465G>C
c.7940G>C (p.Gly2647Ala)
c.5846G>C (p.Gly1949Ala)
c.5675G>C (p.Gly1892Ala)
c.5861G>C (p.Gly1954Ala)
c.7910G>C (p.Gly2637Ala)
c.8252G>C (p.Gly2751Ala)
c.8084G>C (p.Gly2695Ala)
c.8075G>C (p.Gly2692Ala)
c.8069G>C (p.Gly2690Ala)
c.7991G>C (p.Gly2664Ala)
c.7907G>C (p.Gly2636Ala)
n.353-6717C>G
c.7970G>C (p.Gly2657Ala)
c.3230G>C (p.Gly1077Ala)
n.392-6717C>G
 dbSNP
2g.219489126G=CA1329242207ASIC4-AS1,SPEGc.8222G= (p.Gly2741=)
n.7465G=
c.7940G= (p.Gly2647=)
c.5846G= (p.Gly1949=)
c.5675G= (p.Gly1892=)
c.5861G= (p.Gly1954=)
c.7910G= (p.Gly2637=)
c.8252G= (p.Gly2751=)
c.8084G= (p.Gly2695=)
c.8075G= (p.Gly2692=)
c.8069G= (p.Gly2690=)
c.7991G= (p.Gly2664=)
c.7907G= (p.Gly2636=)
n.353-6717C=
c.7970G= (p.Gly2657=)
c.3230G= (p.Gly1077=)
n.392-6717C=
2g.219489126G>TCA350708673ASIC4-AS1,SPEGc.8222G>T (p.Gly2741Val)
n.7465G>T
c.7940G>T (p.Gly2647Val)
c.5846G>T (p.Gly1949Val)
c.5675G>T (p.Gly1892Val)
c.5861G>T (p.Gly1954Val)
c.7910G>T (p.Gly2637Val)
c.8252G>T (p.Gly2751Val)
c.8084G>T (p.Gly2695Val)
c.8075G>T (p.Gly2692Val)
c.8069G>T (p.Gly2690Val)
c.7991G>T (p.Gly2664Val)
c.7907G>T (p.Gly2636Val)
n.353-6717C>A
c.7970G>T (p.Gly2657Val)
c.3230G>T (p.Gly1077Val)
n.392-6717C>A
2g.219489127C>ACA431431400ASIC4-AS1,SPEGc.8223C>A (p.Gly2741=)
n.7466C>A
c.7941C>A (p.Gly2647=)
c.5847C>A (p.Gly1949=)
c.5676C>A (p.Gly1892=)
c.5862C>A (p.Gly1954=)
c.7911C>A (p.Gly2637=)
c.8253C>A (p.Gly2751=)
c.8085C>A (p.Gly2695=)
c.8076C>A (p.Gly2692=)
c.8070C>A (p.Gly2690=)
c.7992C>A (p.Gly2664=)
c.7908C>A (p.Gly2636=)
n.353-6718G>T
c.7971C>A (p.Gly2657=)
c.3231C>A (p.Gly1077=)
n.392-6718G>T
2g.219489127C=CA1329242208ASIC4-AS1,SPEGc.8223C= (p.Gly2741=)
n.7466C=
c.7941C= (p.Gly2647=)
c.5847C= (p.Gly1949=)
c.5676C= (p.Gly1892=)
c.5862C= (p.Gly1954=)
c.7911C= (p.Gly2637=)
c.8253C= (p.Gly2751=)
c.8085C= (p.Gly2695=)
c.8076C= (p.Gly2692=)
c.8070C= (p.Gly2690=)
c.7992C= (p.Gly2664=)
c.7908C= (p.Gly2636=)
n.353-6718G=
c.7971C= (p.Gly2657=)
c.3231C= (p.Gly1077=)
n.392-6718G=
2g.219489127C>GCA431431401ASIC4-AS1,SPEGc.8223C>G (p.Gly2741=)
n.7466C>G
c.7941C>G (p.Gly2647=)
c.5847C>G (p.Gly1949=)
c.5676C>G (p.Gly1892=)
c.5862C>G (p.Gly1954=)
c.7911C>G (p.Gly2637=)
c.8253C>G (p.Gly2751=)
c.8085C>G (p.Gly2695=)
c.8076C>G (p.Gly2692=)
c.8070C>G (p.Gly2690=)
c.7992C>G (p.Gly2664=)
c.7908C>G (p.Gly2636=)
n.353-6718G>C
c.7971C>G (p.Gly2657=)
c.3231C>G (p.Gly1077=)
n.392-6718G>C
2g.219489127C>TCA431431404ASIC4-AS1,SPEGc.8223C>T (p.Gly2741=)
n.7466C>T
c.7941C>T (p.Gly2647=)
c.5847C>T (p.Gly1949=)
c.5676C>T (p.Gly1892=)
c.5862C>T (p.Gly1954=)
c.7911C>T (p.Gly2637=)
c.8253C>T (p.Gly2751=)
c.8085C>T (p.Gly2695=)
c.8076C>T (p.Gly2692=)
c.8070C>T (p.Gly2690=)
c.7992C>T (p.Gly2664=)
c.7908C>T (p.Gly2636=)
n.353-6718G>A
c.7971C>T (p.Gly2657=)
c.3231C>T (p.Gly1077=)
n.392-6718G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.219489128G>ACA2127431ASIC4-AS1,SPEGc.8224G>A (p.Val2742Met)
n.7467G>A
c.7942G>A (p.Val2648Met)
c.5848G>A (p.Val1950Met)
c.5677G>A (p.Val1893Met)
c.5863G>A (p.Val1955Met)
c.7912G>A (p.Val2638Met)
c.8254G>A (p.Val2752Met)
c.8086G>A (p.Val2696Met)
c.8077G>A (p.Val2693Met)
c.8071G>A (p.Val2691Met)
c.7993G>A (p.Val2665Met)
c.7909G>A (p.Val2637Met)
n.353-6719C>T
c.7972G>A (p.Val2658Met)
c.3232G>A (p.Val1078Met)
n.392-6719C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219489128G>CCA350708674ASIC4-AS1,SPEGc.8224G>C (p.Val2742Leu)
n.7467G>C
c.7942G>C (p.Val2648Leu)
c.5848G>C (p.Val1950Leu)
c.5677G>C (p.Val1893Leu)
c.5863G>C (p.Val1955Leu)
c.7912G>C (p.Val2638Leu)
c.8254G>C (p.Val2752Leu)
c.8086G>C (p.Val2696Leu)
c.8077G>C (p.Val2693Leu)
c.8071G>C (p.Val2691Leu)
c.7993G>C (p.Val2665Leu)
c.7909G>C (p.Val2637Leu)
n.353-6719C>G
c.7972G>C (p.Val2658Leu)
c.3232G>C (p.Val1078Leu)
n.392-6719C>G
2g.219489128G=CA1329242209ASIC4-AS1,SPEGc.8224G= (p.Val2742=)
n.7467G=
c.7942G= (p.Val2648=)
c.5848G= (p.Val1950=)
c.5677G= (p.Val1893=)
c.5863G= (p.Val1955=)
c.7912G= (p.Val2638=)
c.8254G= (p.Val2752=)
c.8086G= (p.Val2696=)
c.8077G= (p.Val2693=)
c.8071G= (p.Val2691=)
c.7993G= (p.Val2665=)
c.7909G= (p.Val2637=)
n.353-6719C=
c.7972G= (p.Val2658=)
c.3232G= (p.Val1078=)
n.392-6719C=
2g.219489128G>TCA350708675ASIC4-AS1,SPEGc.8224G>T (p.Val2742Leu)
n.7467G>T
c.7942G>T (p.Val2648Leu)
c.5848G>T (p.Val1950Leu)
c.5677G>T (p.Val1893Leu)
c.5863G>T (p.Val1955Leu)
c.7912G>T (p.Val2638Leu)
c.8254G>T (p.Val2752Leu)
c.8086G>T (p.Val2696Leu)
c.8077G>T (p.Val2693Leu)
c.8071G>T (p.Val2691Leu)
c.7993G>T (p.Val2665Leu)
c.7909G>T (p.Val2637Leu)
n.353-6719C>A
c.7972G>T (p.Val2658Leu)
c.3232G>T (p.Val1078Leu)
n.392-6719C>A
2g.219489129T>ACA350708677ASIC4-AS1,SPEGc.8225T>A (p.Val2742Glu)
n.7468T>A
c.7943T>A (p.Val2648Glu)
c.5849T>A (p.Val1950Glu)
c.5678T>A (p.Val1893Glu)
c.5864T>A (p.Val1955Glu)
c.7913T>A (p.Val2638Glu)
c.8255T>A (p.Val2752Glu)
c.8087T>A (p.Val2696Glu)
c.8078T>A (p.Val2693Glu)
c.8072T>A (p.Val2691Glu)
c.7994T>A (p.Val2665Glu)
c.7910T>A (p.Val2637Glu)
n.353-6720A>T
c.7973T>A (p.Val2658Glu)
c.3233T>A (p.Val1078Glu)
n.392-6720A>T
2g.219489129T>CCA350708678ASIC4-AS1,SPEGc.8225T>C (p.Val2742Ala)
n.7468T>C
c.7943T>C (p.Val2648Ala)
c.5849T>C (p.Val1950Ala)
c.5678T>C (p.Val1893Ala)
c.5864T>C (p.Val1955Ala)
c.7913T>C (p.Val2638Ala)
c.8255T>C (p.Val2752Ala)
c.8087T>C (p.Val2696Ala)
c.8078T>C (p.Val2693Ala)
c.8072T>C (p.Val2691Ala)
c.7994T>C (p.Val2665Ala)
c.7910T>C (p.Val2637Ala)
n.353-6720A>G
c.7973T>C (p.Val2658Ala)
c.3233T>C (p.Val1078Ala)
n.392-6720A>G
2g.219489129T>GCA350708676ASIC4-AS1,SPEGc.8225T>G (p.Val2742Gly)
n.7468T>G
c.7943T>G (p.Val2648Gly)
c.5849T>G (p.Val1950Gly)
c.5678T>G (p.Val1893Gly)
c.5864T>G (p.Val1955Gly)
c.7913T>G (p.Val2638Gly)
c.8255T>G (p.Val2752Gly)
c.8087T>G (p.Val2696Gly)
c.8078T>G (p.Val2693Gly)
c.8072T>G (p.Val2691Gly)
c.7994T>G (p.Val2665Gly)
c.7910T>G (p.Val2637Gly)
n.353-6720A>C
c.7973T>G (p.Val2658Gly)
c.3233T>G (p.Val1078Gly)
n.392-6720A>C
2g.219489130G>ACA431431413ASIC4-AS1,SPEGc.8226G>A (p.Val2742=)
n.7469G>A
c.7944G>A (p.Val2648=)
c.5850G>A (p.Val1950=)
c.5679G>A (p.Val1893=)
c.5865G>A (p.Val1955=)
c.7914G>A (p.Val2638=)
c.8256G>A (p.Val2752=)
c.8088G>A (p.Val2696=)
c.8079G>A (p.Val2693=)
c.8073G>A (p.Val2691=)
c.7995G>A (p.Val2665=)
c.7911G>A (p.Val2637=)
n.353-6721C>T
c.7974G>A (p.Val2658=)
c.3234G>A (p.Val1078=)
n.392-6721C>T
2g.219489130G>CCA431431416ASIC4-AS1,SPEGc.8226G>C (p.Val2742=)
n.7469G>C
c.7944G>C (p.Val2648=)
c.5850G>C (p.Val1950=)
c.5679G>C (p.Val1893=)
c.5865G>C (p.Val1955=)
c.7914G>C (p.Val2638=)
c.8256G>C (p.Val2752=)
c.8088G>C (p.Val2696=)
c.8079G>C (p.Val2693=)
c.8073G>C (p.Val2691=)
c.7995G>C (p.Val2665=)
c.7911G>C (p.Val2637=)
n.353-6721C>G
c.7974G>C (p.Val2658=)
c.3234G>C (p.Val1078=)
n.392-6721C>G
2g.219489130G>TCA431431418ASIC4-AS1,SPEGc.8226G>T (p.Val2742=)
n.7469G>T
c.7944G>T (p.Val2648=)
c.5850G>T (p.Val1950=)
c.5679G>T (p.Val1893=)
c.5865G>T (p.Val1955=)
c.7914G>T (p.Val2638=)
c.8256G>T (p.Val2752=)
c.8088G>T (p.Val2696=)
c.8079G>T (p.Val2693=)
c.8073G>T (p.Val2691=)
c.7995G>T (p.Val2665=)
c.7911G>T (p.Val2637=)
n.353-6721C>A
c.7974G>T (p.Val2658=)
c.3234G>T (p.Val1078=)
n.392-6721C>A
2g.219489131A=CA1329242210ASIC4-AS1,SPEGc.8227A= (p.Thr2743=)
n.7470A=
c.7945A= (p.Thr2649=)
c.5851A= (p.Thr1951=)
c.5680A= (p.Thr1894=)
c.5866A= (p.Thr1956=)
c.7915A= (p.Thr2639=)
c.8257A= (p.Thr2753=)
c.8089A= (p.Thr2697=)
c.8080A= (p.Thr2694=)
c.8074A= (p.Thr2692=)
c.7996A= (p.Thr2666=)
c.7912A= (p.Thr2638=)
n.353-6722T=
c.7975A= (p.Thr2659=)
c.3235A= (p.Thr1079=)
n.392-6722T=
2g.219489131A>CCA350708679ASIC4-AS1,SPEGc.8227A>C (p.Thr2743Pro)
n.7470A>C
c.7945A>C (p.Thr2649Pro)
c.5851A>C (p.Thr1951Pro)
c.5680A>C (p.Thr1894Pro)
c.5866A>C (p.Thr1956Pro)
c.7915A>C (p.Thr2639Pro)
c.8257A>C (p.Thr2753Pro)
c.8089A>C (p.Thr2697Pro)
c.8080A>C (p.Thr2694Pro)
c.8074A>C (p.Thr2692Pro)
c.7996A>C (p.Thr2666Pro)
c.7912A>C (p.Thr2638Pro)
n.353-6722T>G
c.7975A>C (p.Thr2659Pro)
c.3235A>C (p.Thr1079Pro)
n.392-6722T>G
2g.219489131A>GCA2127432ASIC4-AS1,SPEGc.8227A>G (p.Thr2743Ala)
n.7470A>G
c.7945A>G (p.Thr2649Ala)
c.5851A>G (p.Thr1951Ala)
c.5680A>G (p.Thr1894Ala)
c.5866A>G (p.Thr1956Ala)
c.7915A>G (p.Thr2639Ala)
c.8257A>G (p.Thr2753Ala)
c.8089A>G (p.Thr2697Ala)
c.8080A>G (p.Thr2694Ala)
c.8074A>G (p.Thr2692Ala)
c.7996A>G (p.Thr2666Ala)
c.7912A>G (p.Thr2638Ala)
n.353-6722T>C
c.7975A>G (p.Thr2659Ala)
c.3235A>G (p.Thr1079Ala)
n.392-6722T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489131A>TCA350708680ASIC4-AS1,SPEGc.8227A>T (p.Thr2743Ser)
n.7470A>T
c.7945A>T (p.Thr2649Ser)
c.5851A>T (p.Thr1951Ser)
c.5680A>T (p.Thr1894Ser)
c.5866A>T (p.Thr1956Ser)
c.7915A>T (p.Thr2639Ser)
c.8257A>T (p.Thr2753Ser)
c.8089A>T (p.Thr2697Ser)
c.8080A>T (p.Thr2694Ser)
c.8074A>T (p.Thr2692Ser)
c.7996A>T (p.Thr2666Ser)
c.7912A>T (p.Thr2638Ser)
n.353-6722T>A
c.7975A>T (p.Thr2659Ser)
c.3235A>T (p.Thr1079Ser)
n.392-6722T>A
 dbSNP gnomAD v4
2g.219489132C>ACA350708681ASIC4-AS1,SPEGc.8228C>A (p.Thr2743Asn)
n.7471C>A
c.7946C>A (p.Thr2649Asn)
c.5852C>A (p.Thr1951Asn)
c.5681C>A (p.Thr1894Asn)
c.5867C>A (p.Thr1956Asn)
c.7916C>A (p.Thr2639Asn)
c.8258C>A (p.Thr2753Asn)
c.8090C>A (p.Thr2697Asn)
c.8081C>A (p.Thr2694Asn)
c.8075C>A (p.Thr2692Asn)
c.7997C>A (p.Thr2666Asn)
c.7913C>A (p.Thr2638Asn)
n.353-6723G>T
c.7976C>A (p.Thr2659Asn)
c.3236C>A (p.Thr1079Asn)
n.392-6723G>T
2g.219489132C=CA1329242211ASIC4-AS1,SPEGc.8228C= (p.Thr2743=)
n.7471C=
c.7946C= (p.Thr2649=)
c.5852C= (p.Thr1951=)
c.5681C= (p.Thr1894=)
c.5867C= (p.Thr1956=)
c.7916C= (p.Thr2639=)
c.8258C= (p.Thr2753=)
c.8090C= (p.Thr2697=)
c.8081C= (p.Thr2694=)
c.8075C= (p.Thr2692=)
c.7997C= (p.Thr2666=)
c.7913C= (p.Thr2638=)
n.353-6723G=
c.7976C= (p.Thr2659=)
c.3236C= (p.Thr1079=)
n.392-6723G=
2g.219489132C>GCA350708683ASIC4-AS1,SPEGc.8228C>G (p.Thr2743Ser)
n.7471C>G
c.7946C>G (p.Thr2649Ser)
c.5852C>G (p.Thr1951Ser)
c.5681C>G (p.Thr1894Ser)
c.5867C>G (p.Thr1956Ser)
c.7916C>G (p.Thr2639Ser)
c.8258C>G (p.Thr2753Ser)
c.8090C>G (p.Thr2697Ser)
c.8081C>G (p.Thr2694Ser)
c.8075C>G (p.Thr2692Ser)
c.7997C>G (p.Thr2666Ser)
c.7913C>G (p.Thr2638Ser)
n.353-6723G>C
c.7976C>G (p.Thr2659Ser)
c.3236C>G (p.Thr1079Ser)
n.392-6723G>C
2g.219489132C>TCA350708682ASIC4-AS1,SPEGc.8228C>T (p.Thr2743Ile)
n.7471C>T
c.7946C>T (p.Thr2649Ile)
c.5852C>T (p.Thr1951Ile)
c.5681C>T (p.Thr1894Ile)
c.5867C>T (p.Thr1956Ile)
c.7916C>T (p.Thr2639Ile)
c.8258C>T (p.Thr2753Ile)
c.8090C>T (p.Thr2697Ile)
c.8081C>T (p.Thr2694Ile)
c.8075C>T (p.Thr2692Ile)
c.7997C>T (p.Thr2666Ile)
c.7913C>T (p.Thr2638Ile)
n.353-6723G>A
c.7976C>T (p.Thr2659Ile)
c.3236C>T (p.Thr1079Ile)
n.392-6723G>A
 dbSNP COSMIC
2g.219489132_219489135delinsCTGTCA1329242212ASIC4-AS1,SPEGc.8228_8231delinsCTGT (p.Thr2743=)
n.7471_7474delinsCTGT
c.7946_7949delinsCTGT (p.Thr2649=)
c.5852_5855delinsCTGT (p.Thr1951=)
c.5681_5684delinsCTGT (p.Thr1894=)
c.5867_5870delinsCTGT (p.Thr1956=)
c.7916_7919delinsCTGT (p.Thr2639=)
c.8258_8261delinsCTGT (p.Thr2753=)
c.8090_8093delinsCTGT (p.Thr2697=)
c.8081_8084delinsCTGT (p.Thr2694=)
c.8075_8078delinsCTGT (p.Thr2692=)
c.7997_8000delinsCTGT (p.Thr2666=)
c.7913_7916delinsCTGT (p.Thr2638=)
n.353-6726_353-6723delinsACAG
c.7976_7979delinsCTGT (p.Thr2659=)
c.3236_3239delinsCTGT (p.Thr1079=)
n.392-6726_392-6723delinsACAG
2g.219489133T>ACA431431420ASIC4-AS1,SPEGc.8229T>A (p.Thr2743=)
n.7472T>A
c.7947T>A (p.Thr2649=)
c.5853T>A (p.Thr1951=)
c.5682T>A (p.Thr1894=)
c.5868T>A (p.Thr1956=)
c.7917T>A (p.Thr2639=)
c.8259T>A (p.Thr2753=)
c.8091T>A (p.Thr2697=)
c.8082T>A (p.Thr2694=)
c.8076T>A (p.Thr2692=)
c.7998T>A (p.Thr2666=)
c.7914T>A (p.Thr2638=)
n.353-6724A>T
c.7977T>A (p.Thr2659=)
c.3237T>A (p.Thr1079=)
n.392-6724A>T
2g.219489133T>CCA431431421ASIC4-AS1,SPEGc.8229T>C (p.Thr2743=)
n.7472T>C
c.7947T>C (p.Thr2649=)
c.5853T>C (p.Thr1951=)
c.5682T>C (p.Thr1894=)
c.5868T>C (p.Thr1956=)
c.7917T>C (p.Thr2639=)
c.8259T>C (p.Thr2753=)
c.8091T>C (p.Thr2697=)
c.8082T>C (p.Thr2694=)
c.8076T>C (p.Thr2692=)
c.7998T>C (p.Thr2666=)
c.7914T>C (p.Thr2638=)
n.353-6724A>G
c.7977T>C (p.Thr2659=)
c.3237T>C (p.Thr1079=)
n.392-6724A>G
2g.219489133T>GCA431431422ASIC4-AS1,SPEGc.8229T>G (p.Thr2743=)
n.7472T>G
c.7947T>G (p.Thr2649=)
c.5853T>G (p.Thr1951=)
c.5682T>G (p.Thr1894=)
c.5868T>G (p.Thr1956=)
c.7917T>G (p.Thr2639=)
c.8259T>G (p.Thr2753=)
c.8091T>G (p.Thr2697=)
c.8082T>G (p.Thr2694=)
c.8076T>G (p.Thr2692=)
c.7998T>G (p.Thr2666=)
c.7914T>G (p.Thr2638=)
n.353-6724A>C
c.7977T>G (p.Thr2659=)
c.3237T>G (p.Thr1079=)
n.392-6724A>C
2g.219489133_219489135delCA1329242213ASIC4-AS1,SPEGc.8229_8231del (p.Val2744del)
n.7472_7474del
c.7947_7949del (p.Val2650del)
c.5853_5855del (p.Val1952del)
c.5682_5684del (p.Val1895del)
c.5868_5870del (p.Val1957del)
c.7917_7919del (p.Val2640del)
c.8259_8261del (p.Val2754del)
c.8091_8093del (p.Val2698del)
c.8082_8084del (p.Val2695del)
c.8076_8078del (p.Val2693del)
c.7998_8000del (p.Val2667del)
c.7914_7916del (p.Val2639del)
n.353-6726_353-6724del
c.7977_7979del (p.Val2660del)
c.3237_3239del (p.Val1080del)
n.392-6726_392-6724del
 dbSNP gnomAD v4
2g.219489134G>ACA350708684ASIC4-AS1,SPEGc.8230G>A (p.Val2744Met)
n.7473G>A
c.7948G>A (p.Val2650Met)
c.5854G>A (p.Val1952Met)
c.5683G>A (p.Val1895Met)
c.5869G>A (p.Val1957Met)
c.7918G>A (p.Val2640Met)
c.8260G>A (p.Val2754Met)
c.8092G>A (p.Val2698Met)
c.8083G>A (p.Val2695Met)
c.8077G>A (p.Val2693Met)
c.7999G>A (p.Val2667Met)
c.7915G>A (p.Val2639Met)
n.353-6725C>T
c.7978G>A (p.Val2660Met)
c.3238G>A (p.Val1080Met)
n.392-6725C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219489134G>CCA2127433ASIC4-AS1,SPEGc.8230G>C (p.Val2744Leu)
n.7473G>C
c.7948G>C (p.Val2650Leu)
c.5854G>C (p.Val1952Leu)
c.5683G>C (p.Val1895Leu)
c.5869G>C (p.Val1957Leu)
c.7918G>C (p.Val2640Leu)
c.8260G>C (p.Val2754Leu)
c.8092G>C (p.Val2698Leu)
c.8083G>C (p.Val2695Leu)
c.8077G>C (p.Val2693Leu)
c.7999G>C (p.Val2667Leu)
c.7915G>C (p.Val2639Leu)
n.353-6725C>G
c.7978G>C (p.Val2660Leu)
c.3238G>C (p.Val1080Leu)
n.392-6725C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489134G=CA1329242214ASIC4-AS1,SPEGc.8230G= (p.Val2744=)
n.7473G=
c.7948G= (p.Val2650=)
c.5854G= (p.Val1952=)
c.5683G= (p.Val1895=)
c.5869G= (p.Val1957=)
c.7918G= (p.Val2640=)
c.8260G= (p.Val2754=)
c.8092G= (p.Val2698=)
c.8083G= (p.Val2695=)
c.8077G= (p.Val2693=)
c.7999G= (p.Val2667=)
c.7915G= (p.Val2639=)
n.353-6725C=
c.7978G= (p.Val2660=)
c.3238G= (p.Val1080=)
n.392-6725C=
2g.219489134G>TCA350708685ASIC4-AS1,SPEGc.8230G>T (p.Val2744Leu)
n.7473G>T
c.7948G>T (p.Val2650Leu)
c.5854G>T (p.Val1952Leu)
c.5683G>T (p.Val1895Leu)
c.5869G>T (p.Val1957Leu)
c.7918G>T (p.Val2640Leu)
c.8260G>T (p.Val2754Leu)
c.8092G>T (p.Val2698Leu)
c.8083G>T (p.Val2695Leu)
c.8077G>T (p.Val2693Leu)
c.7999G>T (p.Val2667Leu)
c.7915G>T (p.Val2639Leu)
n.353-6725C>A
c.7978G>T (p.Val2660Leu)
c.3238G>T (p.Val1080Leu)
n.392-6725C>A
2g.219489135T>ACA350708686ASIC4-AS1,SPEGc.8231T>A (p.Val2744Glu)
n.7474T>A
c.7949T>A (p.Val2650Glu)
c.5855T>A (p.Val1952Glu)
c.5684T>A (p.Val1895Glu)
c.5870T>A (p.Val1957Glu)
c.7919T>A (p.Val2640Glu)
c.8261T>A (p.Val2754Glu)
c.8093T>A (p.Val2698Glu)
c.8084T>A (p.Val2695Glu)
c.8078T>A (p.Val2693Glu)
c.8000T>A (p.Val2667Glu)
c.7916T>A (p.Val2639Glu)
n.353-6726A>T
c.7979T>A (p.Val2660Glu)
c.3239T>A (p.Val1080Glu)
n.392-6726A>T
2g.219489135T>CCA65996915ASIC4-AS1,SPEGc.8231T>C (p.Val2744Ala)
n.7474T>C
c.7949T>C (p.Val2650Ala)
c.5855T>C (p.Val1952Ala)
c.5684T>C (p.Val1895Ala)
c.5870T>C (p.Val1957Ala)
c.7919T>C (p.Val2640Ala)
c.8261T>C (p.Val2754Ala)
c.8093T>C (p.Val2698Ala)
c.8084T>C (p.Val2695Ala)
c.8078T>C (p.Val2693Ala)
c.8000T>C (p.Val2667Ala)
c.7916T>C (p.Val2639Ala)
n.353-6726A>G
c.7979T>C (p.Val2660Ala)
c.3239T>C (p.Val1080Ala)
n.392-6726A>G
 dbSNP gnomAD v3 gnomAD v4
2g.219489135T>GCA350708687ASIC4-AS1,SPEGc.8231T>G (p.Val2744Gly)
n.7474T>G
c.7949T>G (p.Val2650Gly)
c.5855T>G (p.Val1952Gly)
c.5684T>G (p.Val1895Gly)
c.5870T>G (p.Val1957Gly)
c.7919T>G (p.Val2640Gly)
c.8261T>G (p.Val2754Gly)
c.8093T>G (p.Val2698Gly)
c.8084T>G (p.Val2695Gly)
c.8078T>G (p.Val2693Gly)
c.8000T>G (p.Val2667Gly)
c.7916T>G (p.Val2639Gly)
n.353-6726A>C
c.7979T>G (p.Val2660Gly)
c.3239T>G (p.Val1080Gly)
n.392-6726A>C
 gnomAD v4
2g.219489135T=CA1329242215ASIC4-AS1,SPEGc.8231T= (p.Val2744=)
n.7474T=
c.7949T= (p.Val2650=)
c.5855T= (p.Val1952=)
c.5684T= (p.Val1895=)
c.5870T= (p.Val1957=)
c.7919T= (p.Val2640=)
c.8261T= (p.Val2754=)
c.8093T= (p.Val2698=)
c.8084T= (p.Val2695=)
c.8078T= (p.Val2693=)
c.8000T= (p.Val2667=)
c.7916T= (p.Val2639=)
n.353-6726A=
c.7979T= (p.Val2660=)
c.3239T= (p.Val1080=)
n.392-6726A=
2g.219489136G>ACA65996916ASIC4-AS1,SPEGc.8232G>A (p.Val2744=)
n.7475G>A
c.7950G>A (p.Val2650=)
c.5856G>A (p.Val1952=)
c.5685G>A (p.Val1895=)
c.5871G>A (p.Val1957=)
c.7920G>A (p.Val2640=)
c.8262G>A (p.Val2754=)
c.8094G>A (p.Val2698=)
c.8085G>A (p.Val2695=)
c.8079G>A (p.Val2693=)
c.8001G>A (p.Val2667=)
c.7917G>A (p.Val2639=)
n.353-6727C>T
c.7980G>A (p.Val2660=)
c.3240G>A (p.Val1080=)
n.392-6727C>T
 dbSNP
2g.219489136G>CCA431431428ASIC4-AS1,SPEGc.8232G>C (p.Val2744=)
n.7475G>C
c.7950G>C (p.Val2650=)
c.5856G>C (p.Val1952=)
c.5685G>C (p.Val1895=)
c.5871G>C (p.Val1957=)
c.7920G>C (p.Val2640=)
c.8262G>C (p.Val2754=)
c.8094G>C (p.Val2698=)
c.8085G>C (p.Val2695=)
c.8079G>C (p.Val2693=)
c.8001G>C (p.Val2667=)
c.7917G>C (p.Val2639=)
n.353-6727C>G
c.7980G>C (p.Val2660=)
c.3240G>C (p.Val1080=)
n.392-6727C>G
2g.219489136G=CA1329242216ASIC4-AS1,SPEGc.8232G= (p.Val2744=)
n.7475G=
c.7950G= (p.Val2650=)
c.5856G= (p.Val1952=)
c.5685G= (p.Val1895=)
c.5871G= (p.Val1957=)
c.7920G= (p.Val2640=)
c.8262G= (p.Val2754=)
c.8094G= (p.Val2698=)
c.8085G= (p.Val2695=)
c.8079G= (p.Val2693=)
c.8001G= (p.Val2667=)
c.7917G= (p.Val2639=)
n.353-6727C=
c.7980G= (p.Val2660=)
c.3240G= (p.Val1080=)
n.392-6727C=
2g.219489136G>TCA431431431ASIC4-AS1,SPEGc.8232G>T (p.Val2744=)
n.7475G>T
c.7950G>T (p.Val2650=)
c.5856G>T (p.Val1952=)
c.5685G>T (p.Val1895=)
c.5871G>T (p.Val1957=)
c.7920G>T (p.Val2640=)
c.8262G>T (p.Val2754=)
c.8094G>T (p.Val2698=)
c.8085G>T (p.Val2695=)
c.8079G>T (p.Val2693=)
c.8001G>T (p.Val2667=)
c.7917G>T (p.Val2639=)
n.353-6727C>A
c.7980G>T (p.Val2660=)
c.3240G>T (p.Val1080=)
n.392-6727C>A
2g.219489137A=CA1329242217ASIC4-AS1,SPEGc.8233A= (p.Arg2745=)
n.7476A=
c.7951A= (p.Arg2651=)
c.5857A= (p.Arg1953=)
c.5686A= (p.Arg1896=)
c.5872A= (p.Arg1958=)
c.7921A= (p.Arg2641=)
c.8263A= (p.Arg2755=)
c.8095A= (p.Arg2699=)
c.8086A= (p.Arg2696=)
c.8080A= (p.Arg2694=)
c.8002A= (p.Arg2668=)
c.7918A= (p.Arg2640=)
n.353-6728T=
c.7981A= (p.Arg2661=)
c.3241A= (p.Arg1081=)
n.392-6728T=
2g.219489137A>CCA431431435ASIC4-AS1,SPEGc.8233A>C (p.Arg2745=)
n.7476A>C
c.7951A>C (p.Arg2651=)
c.5857A>C (p.Arg1953=)
c.5686A>C (p.Arg1896=)
c.5872A>C (p.Arg1958=)
c.7921A>C (p.Arg2641=)
c.8263A>C (p.Arg2755=)
c.8095A>C (p.Arg2699=)
c.8086A>C (p.Arg2696=)
c.8080A>C (p.Arg2694=)
c.8002A>C (p.Arg2668=)
c.7918A>C (p.Arg2640=)
n.353-6728T>G
c.7981A>C (p.Arg2661=)
c.3241A>C (p.Arg1081=)
n.392-6728T>G
2g.219489137A>GCA350708688ASIC4-AS1,SPEGc.8233A>G (p.Arg2745Gly)
n.7476A>G
c.7951A>G (p.Arg2651Gly)
c.5857A>G (p.Arg1953Gly)
c.5686A>G (p.Arg1896Gly)
c.5872A>G (p.Arg1958Gly)
c.7921A>G (p.Arg2641Gly)
c.8263A>G (p.Arg2755Gly)
c.8095A>G (p.Arg2699Gly)
c.8086A>G (p.Arg2696Gly)
c.8080A>G (p.Arg2694Gly)
c.8002A>G (p.Arg2668Gly)
c.7918A>G (p.Arg2640Gly)
n.353-6728T>C
c.7981A>G (p.Arg2661Gly)
c.3241A>G (p.Arg1081Gly)
n.392-6728T>C
 dbSNP gnomAD v3 gnomAD v4
2g.219489137A>TCA350708689ASIC4-AS1,SPEGc.8233A>T (p.Arg2745Trp)
n.7476A>T
c.7951A>T (p.Arg2651Trp)
c.5857A>T (p.Arg1953Trp)
c.5686A>T (p.Arg1896Trp)
c.5872A>T (p.Arg1958Trp)
c.7921A>T (p.Arg2641Trp)
c.8263A>T (p.Arg2755Trp)
c.8095A>T (p.Arg2699Trp)
c.8086A>T (p.Arg2696Trp)
c.8080A>T (p.Arg2694Trp)
c.8002A>T (p.Arg2668Trp)
c.7918A>T (p.Arg2640Trp)
n.353-6728T>A
c.7981A>T (p.Arg2661Trp)
c.3241A>T (p.Arg1081Trp)
n.392-6728T>A
2g.219489138G>ACA350708690ASIC4-AS1,SPEGc.8234G>A (p.Arg2745Lys)
n.7477G>A
c.7952G>A (p.Arg2651Lys)
c.5858G>A (p.Arg1953Lys)
c.5687G>A (p.Arg1896Lys)
c.5873G>A (p.Arg1958Lys)
c.7922G>A (p.Arg2641Lys)
c.8264G>A (p.Arg2755Lys)
c.8096G>A (p.Arg2699Lys)
c.8087G>A (p.Arg2696Lys)
c.8081G>A (p.Arg2694Lys)
c.8003G>A (p.Arg2668Lys)
c.7919G>A (p.Arg2640Lys)
n.353-6729C>T
c.7982G>A (p.Arg2661Lys)
c.3242G>A (p.Arg1081Lys)
n.392-6729C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.219489138G>CCA350708691ASIC4-AS1,SPEGc.8234G>C (p.Arg2745Thr)
n.7477G>C
c.7952G>C (p.Arg2651Thr)
c.5858G>C (p.Arg1953Thr)
c.5687G>C (p.Arg1896Thr)
c.5873G>C (p.Arg1958Thr)
c.7922G>C (p.Arg2641Thr)
c.8264G>C (p.Arg2755Thr)
c.8096G>C (p.Arg2699Thr)
c.8087G>C (p.Arg2696Thr)
c.8081G>C (p.Arg2694Thr)
c.8003G>C (p.Arg2668Thr)
c.7919G>C (p.Arg2640Thr)
n.353-6729C>G
c.7982G>C (p.Arg2661Thr)
c.3242G>C (p.Arg1081Thr)
n.392-6729C>G
2g.219489138G=CA1329242218ASIC4-AS1,SPEGc.8234G= (p.Arg2745=)
n.7477G=
c.7952G= (p.Arg2651=)
c.5858G= (p.Arg1953=)
c.5687G= (p.Arg1896=)
c.5873G= (p.Arg1958=)
c.7922G= (p.Arg2641=)
c.8264G= (p.Arg2755=)
c.8096G= (p.Arg2699=)
c.8087G= (p.Arg2696=)
c.8081G= (p.Arg2694=)
c.8003G= (p.Arg2668=)
c.7919G= (p.Arg2640=)
n.353-6729C=
c.7982G= (p.Arg2661=)
c.3242G= (p.Arg1081=)
n.392-6729C=
2g.219489138G>TCA350708692ASIC4-AS1,SPEGc.8234G>T (p.Arg2745Met)
n.7477G>T
c.7952G>T (p.Arg2651Met)
c.5858G>T (p.Arg1953Met)
c.5687G>T (p.Arg1896Met)
c.5873G>T (p.Arg1958Met)
c.7922G>T (p.Arg2641Met)
c.8264G>T (p.Arg2755Met)
c.8096G>T (p.Arg2699Met)
c.8087G>T (p.Arg2696Met)
c.8081G>T (p.Arg2694Met)
c.8003G>T (p.Arg2668Met)
c.7919G>T (p.Arg2640Met)
n.353-6729C>A
c.7982G>T (p.Arg2661Met)
c.3242G>T (p.Arg1081Met)
n.392-6729C>A
 gnomAD v4
2g.219489139G>ACA431431439ASIC4-AS1,SPEGc.8235G>A (p.Arg2745=)
n.7478G>A
c.7953G>A (p.Arg2651=)
c.5859G>A (p.Arg1953=)
c.5688G>A (p.Arg1896=)
c.5874G>A (p.Arg1958=)
c.7923G>A (p.Arg2641=)
c.8265G>A (p.Arg2755=)
c.8097G>A (p.Arg2699=)
c.8088G>A (p.Arg2696=)
c.8082G>A (p.Arg2694=)
c.8004G>A (p.Arg2668=)
c.7920G>A (p.Arg2640=)
n.353-6730C>T
c.7983G>A (p.Arg2661=)
c.3243G>A (p.Arg1081=)
n.392-6730C>T
2g.219489139G>CCA350708693ASIC4-AS1,SPEGc.8235G>C (p.Arg2745Ser)
n.7478G>C
c.7953G>C (p.Arg2651Ser)
c.5859G>C (p.Arg1953Ser)
c.5688G>C (p.Arg1896Ser)
c.5874G>C (p.Arg1958Ser)
c.7923G>C (p.Arg2641Ser)
c.8265G>C (p.Arg2755Ser)
c.8097G>C (p.Arg2699Ser)
c.8088G>C (p.Arg2696Ser)
c.8082G>C (p.Arg2694Ser)
c.8004G>C (p.Arg2668Ser)
c.7920G>C (p.Arg2640Ser)
n.353-6730C>G
c.7983G>C (p.Arg2661Ser)
c.3243G>C (p.Arg1081Ser)
n.392-6730C>G
2g.219489139G=CA1329242219ASIC4-AS1,SPEGc.8235G= (p.Arg2745=)
n.7478G=
c.7953G= (p.Arg2651=)
c.5859G= (p.Arg1953=)
c.5688G= (p.Arg1896=)
c.5874G= (p.Arg1958=)
c.7923G= (p.Arg2641=)
c.8265G= (p.Arg2755=)
c.8097G= (p.Arg2699=)
c.8088G= (p.Arg2696=)
c.8082G= (p.Arg2694=)
c.8004G= (p.Arg2668=)
c.7920G= (p.Arg2640=)
n.353-6730C=
c.7983G= (p.Arg2661=)
c.3243G= (p.Arg1081=)
n.392-6730C=
2g.219489139G>TCA65996920ASIC4-AS1,SPEGc.8235G>T (p.Arg2745Ser)
n.7478G>T
c.7953G>T (p.Arg2651Ser)
c.5859G>T (p.Arg1953Ser)
c.5688G>T (p.Arg1896Ser)
c.5874G>T (p.Arg1958Ser)
c.7923G>T (p.Arg2641Ser)
c.8265G>T (p.Arg2755Ser)
c.8097G>T (p.Arg2699Ser)
c.8088G>T (p.Arg2696Ser)
c.8082G>T (p.Arg2694Ser)
c.8004G>T (p.Arg2668Ser)
c.7920G>T (p.Arg2640Ser)
n.353-6730C>A
c.7983G>T (p.Arg2661Ser)
c.3243G>T (p.Arg1081Ser)
n.392-6730C>A
 dbSNP
2g.219489140T>ACA350708696ASIC4-AS1,SPEGc.8236T>A (p.Phe2746Ile)
n.7479T>A
c.7954T>A (p.Phe2652Ile)
c.5860T>A (p.Phe1954Ile)
c.5689T>A (p.Phe1897Ile)
c.5875T>A (p.Phe1959Ile)
c.7924T>A (p.Phe2642Ile)
c.8266T>A (p.Phe2756Ile)
c.8098T>A (p.Phe2700Ile)
c.8089T>A (p.Phe2697Ile)
c.8083T>A (p.Phe2695Ile)
c.8005T>A (p.Phe2669Ile)
c.7921T>A (p.Phe2641Ile)
n.353-6731A>T
c.7984T>A (p.Phe2662Ile)
c.3244T>A (p.Phe1082Ile)
n.392-6731A>T
2g.219489140T>CCA350708695ASIC4-AS1,SPEGc.8236T>C (p.Phe2746Leu)
n.7479T>C
c.7954T>C (p.Phe2652Leu)
c.5860T>C (p.Phe1954Leu)
c.5689T>C (p.Phe1897Leu)
c.5875T>C (p.Phe1959Leu)
c.7924T>C (p.Phe2642Leu)
c.8266T>C (p.Phe2756Leu)
c.8098T>C (p.Phe2700Leu)
c.8089T>C (p.Phe2697Leu)
c.8083T>C (p.Phe2695Leu)
c.8005T>C (p.Phe2669Leu)
c.7921T>C (p.Phe2641Leu)
n.353-6731A>G
c.7984T>C (p.Phe2662Leu)
c.3244T>C (p.Phe1082Leu)
n.392-6731A>G
2g.219489140T>GCA350708694ASIC4-AS1,SPEGc.8236T>G (p.Phe2746Val)
n.7479T>G
c.7954T>G (p.Phe2652Val)
c.5860T>G (p.Phe1954Val)
c.5689T>G (p.Phe1897Val)
c.5875T>G (p.Phe1959Val)
c.7924T>G (p.Phe2642Val)
c.8266T>G (p.Phe2756Val)
c.8098T>G (p.Phe2700Val)
c.8089T>G (p.Phe2697Val)
c.8083T>G (p.Phe2695Val)
c.8005T>G (p.Phe2669Val)
c.7921T>G (p.Phe2641Val)
n.353-6731A>C
c.7984T>G (p.Phe2662Val)
c.3244T>G (p.Phe1082Val)
n.392-6731A>C
2g.219489141T>ACA350708697ASIC4-AS1,SPEGc.8237T>A (p.Phe2746Tyr)
n.7480T>A
c.7955T>A (p.Phe2652Tyr)
c.5861T>A (p.Phe1954Tyr)
c.5690T>A (p.Phe1897Tyr)
c.5876T>A (p.Phe1959Tyr)
c.7925T>A (p.Phe2642Tyr)
c.8267T>A (p.Phe2756Tyr)
c.8099T>A (p.Phe2700Tyr)
c.8090T>A (p.Phe2697Tyr)
c.8084T>A (p.Phe2695Tyr)
c.8006T>A (p.Phe2669Tyr)
c.7922T>A (p.Phe2641Tyr)
n.353-6732A>T
c.7985T>A (p.Phe2662Tyr)
c.3245T>A (p.Phe1082Tyr)
n.392-6732A>T
2g.219489141T>CCA350708698ASIC4-AS1,SPEGc.8237T>C (p.Phe2746Ser)
n.7480T>C
c.7955T>C (p.Phe2652Ser)
c.5861T>C (p.Phe1954Ser)
c.5690T>C (p.Phe1897Ser)
c.5876T>C (p.Phe1959Ser)
c.7925T>C (p.Phe2642Ser)
c.8267T>C (p.Phe2756Ser)
c.8099T>C (p.Phe2700Ser)
c.8090T>C (p.Phe2697Ser)
c.8084T>C (p.Phe2695Ser)
c.8006T>C (p.Phe2669Ser)
c.7922T>C (p.Phe2641Ser)
n.353-6732A>G
c.7985T>C (p.Phe2662Ser)
c.3245T>C (p.Phe1082Ser)
n.392-6732A>G
2g.219489141T>GCA350708699ASIC4-AS1,SPEGc.8237T>G (p.Phe2746Cys)
n.7480T>G
c.7955T>G (p.Phe2652Cys)
c.5861T>G (p.Phe1954Cys)
c.5690T>G (p.Phe1897Cys)
c.5876T>G (p.Phe1959Cys)
c.7925T>G (p.Phe2642Cys)
c.8267T>G (p.Phe2756Cys)
c.8099T>G (p.Phe2700Cys)
c.8090T>G (p.Phe2697Cys)
c.8084T>G (p.Phe2695Cys)
c.8006T>G (p.Phe2669Cys)
c.7922T>G (p.Phe2641Cys)
n.353-6732A>C
c.7985T>G (p.Phe2662Cys)
c.3245T>G (p.Phe1082Cys)
n.392-6732A>C
2g.219489142C>ACA350708700ASIC4-AS1,SPEGc.8238C>A (p.Phe2746Leu)
n.7481C>A
c.7956C>A (p.Phe2652Leu)
c.5862C>A (p.Phe1954Leu)
c.5691C>A (p.Phe1897Leu)
c.5877C>A (p.Phe1959Leu)
c.7926C>A (p.Phe2642Leu)
c.8268C>A (p.Phe2756Leu)
c.8100C>A (p.Phe2700Leu)
c.8091C>A (p.Phe2697Leu)
c.8085C>A (p.Phe2695Leu)
c.8007C>A (p.Phe2669Leu)
c.7923C>A (p.Phe2641Leu)
n.353-6733G>T
c.7986C>A (p.Phe2662Leu)
c.3246C>A (p.Phe1082Leu)
n.392-6733G>T
2g.219489142C>GCA350708701ASIC4-AS1,SPEGc.8238C>G (p.Phe2746Leu)
n.7481C>G
c.7956C>G (p.Phe2652Leu)
c.5862C>G (p.Phe1954Leu)
c.5691C>G (p.Phe1897Leu)
c.5877C>G (p.Phe1959Leu)
c.7926C>G (p.Phe2642Leu)
c.8268C>G (p.Phe2756Leu)
c.8100C>G (p.Phe2700Leu)
c.8091C>G (p.Phe2697Leu)
c.8085C>G (p.Phe2695Leu)
c.8007C>G (p.Phe2669Leu)
c.7923C>G (p.Phe2641Leu)
n.353-6733G>C
c.7986C>G (p.Phe2662Leu)
c.3246C>G (p.Phe1082Leu)
n.392-6733G>C
2g.219489142C>TCA431431452ASIC4-AS1,SPEGc.8238C>T (p.Phe2746=)
n.7481C>T
c.7956C>T (p.Phe2652=)
c.5862C>T (p.Phe1954=)
c.5691C>T (p.Phe1897=)
c.5877C>T (p.Phe1959=)
c.7926C>T (p.Phe2642=)
c.8268C>T (p.Phe2756=)
c.8100C>T (p.Phe2700=)
c.8091C>T (p.Phe2697=)
c.8085C>T (p.Phe2695=)
c.8007C>T (p.Phe2669=)
c.7923C>T (p.Phe2641=)
n.353-6733G>A
c.7986C>T (p.Phe2662=)
c.3246C>T (p.Phe1082=)
n.392-6733G>A
 COSMIC
2g.219489143C>ACA350708702ASIC4-AS1,SPEGc.8239C>A (p.Arg2747Ser)
n.7482C>A
c.7957C>A (p.Arg2653Ser)
c.5863C>A (p.Arg1955Ser)
c.5692C>A (p.Arg1898Ser)
c.5878C>A (p.Arg1960Ser)
c.7927C>A (p.Arg2643Ser)
c.8269C>A (p.Arg2757Ser)
c.8101C>A (p.Arg2701Ser)
c.8092C>A (p.Arg2698Ser)
c.8086C>A (p.Arg2696Ser)
c.8008C>A (p.Arg2670Ser)
c.7924C>A (p.Arg2642Ser)
n.353-6734G>T
c.7987C>A (p.Arg2663Ser)
c.3247C>A (p.Arg1083Ser)
n.392-6734G>T
2g.219489143C=CA1329242220ASIC4-AS1,SPEGc.8239C= (p.Arg2747=)
n.7482C=
c.7957C= (p.Arg2653=)
c.5863C= (p.Arg1955=)
c.5692C= (p.Arg1898=)
c.5878C= (p.Arg1960=)
c.7927C= (p.Arg2643=)
c.8269C= (p.Arg2757=)
c.8101C= (p.Arg2701=)
c.8092C= (p.Arg2698=)
c.8086C= (p.Arg2696=)
c.8008C= (p.Arg2670=)
c.7924C= (p.Arg2642=)
n.353-6734G=
c.7987C= (p.Arg2663=)
c.3247C= (p.Arg1083=)
n.392-6734G=
2g.219489143C>GCA350708703ASIC4-AS1,SPEGc.8239C>G (p.Arg2747Gly)
n.7482C>G
c.7957C>G (p.Arg2653Gly)
c.5863C>G (p.Arg1955Gly)
c.5692C>G (p.Arg1898Gly)
c.5878C>G (p.Arg1960Gly)
c.7927C>G (p.Arg2643Gly)
c.8269C>G (p.Arg2757Gly)
c.8101C>G (p.Arg2701Gly)
c.8092C>G (p.Arg2698Gly)
c.8086C>G (p.Arg2696Gly)
c.8008C>G (p.Arg2670Gly)
c.7924C>G (p.Arg2642Gly)
n.353-6734G>C
c.7987C>G (p.Arg2663Gly)
c.3247C>G (p.Arg1083Gly)
n.392-6734G>C
2g.219489143C>TCA2127434ASIC4-AS1,SPEGc.8239C>T (p.Arg2747Cys)
n.7482C>T
c.7957C>T (p.Arg2653Cys)
c.5863C>T (p.Arg1955Cys)
c.5692C>T (p.Arg1898Cys)
c.5878C>T (p.Arg1960Cys)
c.7927C>T (p.Arg2643Cys)
c.8269C>T (p.Arg2757Cys)
c.8101C>T (p.Arg2701Cys)
c.8092C>T (p.Arg2698Cys)
c.8086C>T (p.Arg2696Cys)
c.8008C>T (p.Arg2670Cys)
c.7924C>T (p.Arg2642Cys)
n.353-6734G>A
c.7987C>T (p.Arg2663Cys)
c.3247C>T (p.Arg1083Cys)
n.392-6734G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219489144G>ACA350708704ASIC4-AS1,SPEGc.8240G>A (p.Arg2747His)
n.7483G>A
c.7958G>A (p.Arg2653His)
c.5864G>A (p.Arg1955His)
c.5693G>A (p.Arg1898His)
c.5879G>A (p.Arg1960His)
c.7928G>A (p.Arg2643His)
c.8270G>A (p.Arg2757His)
c.8102G>A (p.Arg2701His)
c.8093G>A (p.Arg2698His)
c.8087G>A (p.Arg2696His)
c.8009G>A (p.Arg2670His)
c.7925G>A (p.Arg2642His)
n.353-6735C>T
c.7988G>A (p.Arg2663His)
c.3248G>A (p.Arg1083His)
n.392-6735C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219489144G>CCA350708705ASIC4-AS1,SPEGc.8240G>C (p.Arg2747Pro)
n.7483G>C
c.7958G>C (p.Arg2653Pro)
c.5864G>C (p.Arg1955Pro)
c.5693G>C (p.Arg1898Pro)
c.5879G>C (p.Arg1960Pro)
c.7928G>C (p.Arg2643Pro)
c.8270G>C (p.Arg2757Pro)
c.8102G>C (p.Arg2701Pro)
c.8093G>C (p.Arg2698Pro)
c.8087G>C (p.Arg2696Pro)
c.8009G>C (p.Arg2670Pro)
c.7925G>C (p.Arg2642Pro)
n.353-6735C>G
c.7988G>C (p.Arg2663Pro)
c.3248G>C (p.Arg1083Pro)
n.392-6735C>G
 ClinVar dbSNP
2g.219489144G=CA1329242221ASIC4-AS1,SPEGc.8240G= (p.Arg2747=)
n.7483G=
c.7958G= (p.Arg2653=)
c.5864G= (p.Arg1955=)
c.5693G= (p.Arg1898=)
c.5879G= (p.Arg1960=)
c.7928G= (p.Arg2643=)
c.8270G= (p.Arg2757=)
c.8102G= (p.Arg2701=)
c.8093G= (p.Arg2698=)
c.8087G= (p.Arg2696=)
c.8009G= (p.Arg2670=)
c.7925G= (p.Arg2642=)
n.353-6735C=
c.7988G= (p.Arg2663=)
c.3248G= (p.Arg1083=)
n.392-6735C=
2g.219489144G>TCA350708706ASIC4-AS1,SPEGc.8240G>T (p.Arg2747Leu)
n.7483G>T
c.7958G>T (p.Arg2653Leu)
c.5864G>T (p.Arg1955Leu)
c.5693G>T (p.Arg1898Leu)
c.5879G>T (p.Arg1960Leu)
c.7928G>T (p.Arg2643Leu)
c.8270G>T (p.Arg2757Leu)
c.8102G>T (p.Arg2701Leu)
c.8093G>T (p.Arg2698Leu)
c.8087G>T (p.Arg2696Leu)
c.8009G>T (p.Arg2670Leu)
c.7925G>T (p.Arg2642Leu)
n.353-6735C>A
c.7988G>T (p.Arg2663Leu)
c.3248G>T (p.Arg1083Leu)
n.392-6735C>A
 dbSNP
2g.219489145T>ACA431431464ASIC4-AS1,SPEGc.8241T>A (p.Arg2747=)
n.7484T>A
c.7959T>A (p.Arg2653=)
c.5865T>A (p.Arg1955=)
c.5694T>A (p.Arg1898=)
c.5880T>A (p.Arg1960=)
c.7929T>A (p.Arg2643=)
c.8271T>A (p.Arg2757=)
c.8103T>A (p.Arg2701=)
c.8094T>A (p.Arg2698=)
c.8088T>A (p.Arg2696=)
c.8010T>A (p.Arg2670=)
c.7926T>A (p.Arg2642=)
n.353-6736A>T
c.7989T>A (p.Arg2663=)
c.3249T>A (p.Arg1083=)
n.392-6736A>T
2g.219489145T>CCA431431460ASIC4-AS1,SPEGc.8241T>C (p.Arg2747=)
n.7484T>C
c.7959T>C (p.Arg2653=)
c.5865T>C (p.Arg1955=)
c.5694T>C (p.Arg1898=)
c.5880T>C (p.Arg1960=)
c.7929T>C (p.Arg2643=)
c.8271T>C (p.Arg2757=)
c.8103T>C (p.Arg2701=)
c.8094T>C (p.Arg2698=)
c.8088T>C (p.Arg2696=)
c.8010T>C (p.Arg2670=)
c.7926T>C (p.Arg2642=)
n.353-6736A>G
c.7989T>C (p.Arg2663=)
c.3249T>C (p.Arg1083=)
n.392-6736A>G
 dbSNP gnomAD v2 gnomAD v4
2g.219489145T>GCA431431463ASIC4-AS1,SPEGc.8241T>G (p.Arg2747=)
n.7484T>G
c.7959T>G (p.Arg2653=)
c.5865T>G (p.Arg1955=)
c.5694T>G (p.Arg1898=)
c.5880T>G (p.Arg1960=)
c.7929T>G (p.Arg2643=)
c.8271T>G (p.Arg2757=)
c.8103T>G (p.Arg2701=)
c.8094T>G (p.Arg2698=)
c.8088T>G (p.Arg2696=)
c.8010T>G (p.Arg2670=)
c.7926T>G (p.Arg2642=)
n.353-6736A>C
c.7989T>G (p.Arg2663=)
c.3249T>G (p.Arg1083=)
n.392-6736A>C
2g.219489145T=CA1329242222ASIC4-AS1,SPEGc.8241T= (p.Arg2747=)
n.7484T=
c.7959T= (p.Arg2653=)
c.5865T= (p.Arg1955=)
c.5694T= (p.Arg1898=)
c.5880T= (p.Arg1960=)
c.7929T= (p.Arg2643=)
c.8271T= (p.Arg2757=)
c.8103T= (p.Arg2701=)
c.8094T= (p.Arg2698=)
c.8088T= (p.Arg2696=)
c.8010T= (p.Arg2670=)
c.7926T= (p.Arg2642=)
n.353-6736A=
c.7989T= (p.Arg2663=)
c.3249T= (p.Arg1083=)
n.392-6736A=
2g.219489146G>ACA350708709ASIC4-AS1,SPEGc.8242G>A (p.Val2748Met)
n.7485G>A
c.7960G>A (p.Val2654Met)
c.5866G>A (p.Val1956Met)
c.5695G>A (p.Val1899Met)
c.5881G>A (p.Val1961Met)
c.7930G>A (p.Val2644Met)
c.8272G>A (p.Val2758Met)
c.8104G>A (p.Val2702Met)
c.8095G>A (p.Val2699Met)
c.8089G>A (p.Val2697Met)
c.8011G>A (p.Val2671Met)
c.7927G>A (p.Val2643Met)
n.353-6737C>T
c.7990G>A (p.Val2664Met)
c.3250G>A (p.Val1084Met)
n.392-6737C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489146G>CCA350708708ASIC4-AS1,SPEGc.8242G>C (p.Val2748Leu)
n.7485G>C
c.7960G>C (p.Val2654Leu)
c.5866G>C (p.Val1956Leu)
c.5695G>C (p.Val1899Leu)
c.5881G>C (p.Val1961Leu)
c.7930G>C (p.Val2644Leu)
c.8272G>C (p.Val2758Leu)
c.8104G>C (p.Val2702Leu)
c.8095G>C (p.Val2699Leu)
c.8089G>C (p.Val2697Leu)
c.8011G>C (p.Val2671Leu)
c.7927G>C (p.Val2643Leu)
n.353-6737C>G
c.7990G>C (p.Val2664Leu)
c.3250G>C (p.Val1084Leu)
n.392-6737C>G
2g.219489146G=CA1329242223ASIC4-AS1,SPEGc.8242G= (p.Val2748=)
n.7485G=
c.7960G= (p.Val2654=)
c.5866G= (p.Val1956=)
c.5695G= (p.Val1899=)
c.5881G= (p.Val1961=)
c.7930G= (p.Val2644=)
c.8272G= (p.Val2758=)
c.8104G= (p.Val2702=)
c.8095G= (p.Val2699=)
c.8089G= (p.Val2697=)
c.8011G= (p.Val2671=)
c.7927G= (p.Val2643=)
n.353-6737C=
c.7990G= (p.Val2664=)
c.3250G= (p.Val1084=)
n.392-6737C=
2g.219489146G>TCA350708707ASIC4-AS1,SPEGc.8242G>T (p.Val2748Leu)
n.7485G>T
c.7960G>T (p.Val2654Leu)
c.5866G>T (p.Val1956Leu)
c.5695G>T (p.Val1899Leu)
c.5881G>T (p.Val1961Leu)
c.7930G>T (p.Val2644Leu)
c.8272G>T (p.Val2758Leu)
c.8104G>T (p.Val2702Leu)
c.8095G>T (p.Val2699Leu)
c.8089G>T (p.Val2697Leu)
c.8011G>T (p.Val2671Leu)
c.7927G>T (p.Val2643Leu)
n.353-6737C>A
c.7990G>T (p.Val2664Leu)
c.3250G>T (p.Val1084Leu)
n.392-6737C>A
 gnomAD v4 COSMIC
2g.219489147T>ACA350708710ASIC4-AS1,SPEGc.8243T>A (p.Val2748Glu)
n.7486T>A
c.7961T>A (p.Val2654Glu)
c.5867T>A (p.Val1956Glu)
c.5696T>A (p.Val1899Glu)
c.5882T>A (p.Val1961Glu)
c.7931T>A (p.Val2644Glu)
c.8273T>A (p.Val2758Glu)
c.8105T>A (p.Val2702Glu)
c.8096T>A (p.Val2699Glu)
c.8090T>A (p.Val2697Glu)
c.8012T>A (p.Val2671Glu)
c.7928T>A (p.Val2643Glu)
n.353-6738A>T
c.7991T>A (p.Val2664Glu)
c.3251T>A (p.Val1084Glu)
n.392-6738A>T
2g.219489147T>CCA350708711ASIC4-AS1,SPEGc.8243T>C (p.Val2748Ala)
n.7486T>C
c.7961T>C (p.Val2654Ala)
c.5867T>C (p.Val1956Ala)
c.5696T>C (p.Val1899Ala)
c.5882T>C (p.Val1961Ala)
c.7931T>C (p.Val2644Ala)
c.8273T>C (p.Val2758Ala)
c.8105T>C (p.Val2702Ala)
c.8096T>C (p.Val2699Ala)
c.8090T>C (p.Val2697Ala)
c.8012T>C (p.Val2671Ala)
c.7928T>C (p.Val2643Ala)
n.353-6738A>G
c.7991T>C (p.Val2664Ala)
c.3251T>C (p.Val1084Ala)
n.392-6738A>G
2g.219489147T>GCA350708712ASIC4-AS1,SPEGc.8243T>G (p.Val2748Gly)
n.7486T>G
c.7961T>G (p.Val2654Gly)
c.5867T>G (p.Val1956Gly)
c.5696T>G (p.Val1899Gly)
c.5882T>G (p.Val1961Gly)
c.7931T>G (p.Val2644Gly)
c.8273T>G (p.Val2758Gly)
c.8105T>G (p.Val2702Gly)
c.8096T>G (p.Val2699Gly)
c.8090T>G (p.Val2697Gly)
c.8012T>G (p.Val2671Gly)
c.7928T>G (p.Val2643Gly)
n.353-6738A>C
c.7991T>G (p.Val2664Gly)
c.3251T>G (p.Val1084Gly)
n.392-6738A>C
2g.219489148G>ACA431431474ASIC4-AS1,SPEGc.8244G>A (p.Val2748=)
n.7487G>A
c.7962G>A (p.Val2654=)
c.5868G>A (p.Val1956=)
c.5697G>A (p.Val1899=)
c.5883G>A (p.Val1961=)
c.7932G>A (p.Val2644=)
c.8274G>A (p.Val2758=)
c.8106G>A (p.Val2702=)
c.8097G>A (p.Val2699=)
c.8091G>A (p.Val2697=)
c.8013G>A (p.Val2671=)
c.7929G>A (p.Val2643=)
n.353-6739C>T
c.7992G>A (p.Val2664=)
c.3252G>A (p.Val1084=)
n.392-6739C>T
2g.219489148G>CCA431431473ASIC4-AS1,SPEGc.8244G>C (p.Val2748=)
n.7487G>C
c.7962G>C (p.Val2654=)
c.5868G>C (p.Val1956=)
c.5697G>C (p.Val1899=)
c.5883G>C (p.Val1961=)
c.7932G>C (p.Val2644=)
c.8274G>C (p.Val2758=)
c.8106G>C (p.Val2702=)
c.8097G>C (p.Val2699=)
c.8091G>C (p.Val2697=)
c.8013G>C (p.Val2671=)
c.7929G>C (p.Val2643=)
n.353-6739C>G
c.7992G>C (p.Val2664=)
c.3252G>C (p.Val1084=)
n.392-6739C>G
2g.219489148G>TCA431431472ASIC4-AS1,SPEGc.8244G>T (p.Val2748=)
n.7487G>T
c.7962G>T (p.Val2654=)
c.5868G>T (p.Val1956=)
c.5697G>T (p.Val1899=)
c.5883G>T (p.Val1961=)
c.7932G>T (p.Val2644=)
c.8274G>T (p.Val2758=)
c.8106G>T (p.Val2702=)
c.8097G>T (p.Val2699=)
c.8091G>T (p.Val2697=)
c.8013G>T (p.Val2671=)
c.7929G>T (p.Val2643=)
n.353-6739C>A
c.7992G>T (p.Val2664=)
c.3252G>T (p.Val1084=)
n.392-6739C>A
2g.219489149G>ACA350708713ASIC4-AS1,SPEGc.8245G>A (p.Ala2749Thr)
n.7488G>A
c.7963G>A (p.Ala2655Thr)
c.5869G>A (p.Ala1957Thr)
c.5698G>A (p.Ala1900Thr)
c.5884G>A (p.Ala1962Thr)
c.7933G>A (p.Ala2645Thr)
c.8275G>A (p.Ala2759Thr)
c.8107G>A (p.Ala2703Thr)
c.8098G>A (p.Ala2700Thr)
c.8092G>A (p.Ala2698Thr)
c.8014G>A (p.Ala2672Thr)
c.7930G>A (p.Ala2644Thr)
n.353-6740C>T
c.7993G>A (p.Ala2665Thr)
c.3253G>A (p.Ala1085Thr)
n.392-6740C>T
 gnomAD v4
2g.219489149G>CCA350708714ASIC4-AS1,SPEGc.8245G>C (p.Ala2749Pro)
n.7488G>C
c.7963G>C (p.Ala2655Pro)
c.5869G>C (p.Ala1957Pro)
c.5698G>C (p.Ala1900Pro)
c.5884G>C (p.Ala1962Pro)
c.7933G>C (p.Ala2645Pro)
c.8275G>C (p.Ala2759Pro)
c.8107G>C (p.Ala2703Pro)
c.8098G>C (p.Ala2700Pro)
c.8092G>C (p.Ala2698Pro)
c.8014G>C (p.Ala2672Pro)
c.7930G>C (p.Ala2644Pro)
n.353-6740C>G
c.7993G>C (p.Ala2665Pro)
c.3253G>C (p.Ala1085Pro)
n.392-6740C>G
2g.219489149G>TCA350708715ASIC4-AS1,SPEGc.8245G>T (p.Ala2749Ser)
n.7488G>T
c.7963G>T (p.Ala2655Ser)
c.5869G>T (p.Ala1957Ser)
c.5698G>T (p.Ala1900Ser)
c.5884G>T (p.Ala1962Ser)
c.7933G>T (p.Ala2645Ser)
c.8275G>T (p.Ala2759Ser)
c.8107G>T (p.Ala2703Ser)
c.8098G>T (p.Ala2700Ser)
c.8092G>T (p.Ala2698Ser)
c.8014G>T (p.Ala2672Ser)
c.7930G>T (p.Ala2644Ser)
n.353-6740C>A
c.7993G>T (p.Ala2665Ser)
c.3253G>T (p.Ala1085Ser)
n.392-6740C>A
2g.219489150C>ACA65996944ASIC4-AS1,SPEGc.8246C>A (p.Ala2749Asp)
n.7489C>A
c.7964C>A (p.Ala2655Asp)
c.5870C>A (p.Ala1957Asp)
c.5699C>A (p.Ala1900Asp)
c.5885C>A (p.Ala1962Asp)
c.7934C>A (p.Ala2645Asp)
c.8276C>A (p.Ala2759Asp)
c.8108C>A (p.Ala2703Asp)
c.8099C>A (p.Ala2700Asp)
c.8093C>A (p.Ala2698Asp)
c.8015C>A (p.Ala2672Asp)
c.7931C>A (p.Ala2644Asp)
n.353-6741G>T
c.7994C>A (p.Ala2665Asp)
c.3254C>A (p.Ala1085Asp)
n.392-6741G>T
 dbSNP
2g.219489150C=CA1329242224ASIC4-AS1,SPEGc.8246C= (p.Ala2749=)
n.7489C=
c.7964C= (p.Ala2655=)
c.5870C= (p.Ala1957=)
c.5699C= (p.Ala1900=)
c.5885C= (p.Ala1962=)
c.7934C= (p.Ala2645=)
c.8276C= (p.Ala2759=)
c.8108C= (p.Ala2703=)
c.8099C= (p.Ala2700=)
c.8093C= (p.Ala2698=)
c.8015C= (p.Ala2672=)
c.7931C= (p.Ala2644=)
n.353-6741G=
c.7994C= (p.Ala2665=)
c.3254C= (p.Ala1085=)
n.392-6741G=
2g.219489150C>GCA350708716ASIC4-AS1,SPEGc.8246C>G (p.Ala2749Gly)
n.7489C>G
c.7964C>G (p.Ala2655Gly)
c.5870C>G (p.Ala1957Gly)
c.5699C>G (p.Ala1900Gly)
c.5885C>G (p.Ala1962Gly)
c.7934C>G (p.Ala2645Gly)
c.8276C>G (p.Ala2759Gly)
c.8108C>G (p.Ala2703Gly)
c.8099C>G (p.Ala2700Gly)
c.8093C>G (p.Ala2698Gly)
c.8015C>G (p.Ala2672Gly)
c.7931C>G (p.Ala2644Gly)
n.353-6741G>C
c.7994C>G (p.Ala2665Gly)
c.3254C>G (p.Ala1085Gly)
n.392-6741G>C
2g.219489150C>TCA350708717ASIC4-AS1,SPEGc.8246C>T (p.Ala2749Val)
n.7489C>T
c.7964C>T (p.Ala2655Val)
c.5870C>T (p.Ala1957Val)
c.5699C>T (p.Ala1900Val)
c.5885C>T (p.Ala1962Val)
c.7934C>T (p.Ala2645Val)
c.8276C>T (p.Ala2759Val)
c.8108C>T (p.Ala2703Val)
c.8099C>T (p.Ala2700Val)
c.8093C>T (p.Ala2698Val)
c.8015C>T (p.Ala2672Val)
c.7931C>T (p.Ala2644Val)
n.353-6741G>A
c.7994C>T (p.Ala2665Val)
c.3254C>T (p.Ala1085Val)
n.392-6741G>A
2g.219489151C>ACA431431482ASIC4-AS1,SPEGc.8247C>A (p.Ala2749=)
n.7490C>A
c.7965C>A (p.Ala2655=)
c.5871C>A (p.Ala1957=)
c.5700C>A (p.Ala1900=)
c.5886C>A (p.Ala1962=)
c.7935C>A (p.Ala2645=)
c.8277C>A (p.Ala2759=)
c.8109C>A (p.Ala2703=)
c.8100C>A (p.Ala2700=)
c.8094C>A (p.Ala2698=)
c.8016C>A (p.Ala2672=)
c.7932C>A (p.Ala2644=)
n.353-6742G>T
c.7995C>A (p.Ala2665=)
c.3255C>A (p.Ala1085=)
n.392-6742G>T
2g.219489151C>GCA431431484ASIC4-AS1,SPEGc.8247C>G (p.Ala2749=)
n.7490C>G
c.7965C>G (p.Ala2655=)
c.5871C>G (p.Ala1957=)
c.5700C>G (p.Ala1900=)
c.5886C>G (p.Ala1962=)
c.7935C>G (p.Ala2645=)
c.8277C>G (p.Ala2759=)
c.8109C>G (p.Ala2703=)
c.8100C>G (p.Ala2700=)
c.8094C>G (p.Ala2698=)
c.8016C>G (p.Ala2672=)
c.7932C>G (p.Ala2644=)
n.353-6742G>C
c.7995C>G (p.Ala2665=)
c.3255C>G (p.Ala1085=)
n.392-6742G>C
2g.219489151C>TCA431431483ASIC4-AS1,SPEGc.8247C>T (p.Ala2749=)
n.7490C>T
c.7965C>T (p.Ala2655=)
c.5871C>T (p.Ala1957=)
c.5700C>T (p.Ala1900=)
c.5886C>T (p.Ala1962=)
c.7935C>T (p.Ala2645=)
c.8277C>T (p.Ala2759=)
c.8109C>T (p.Ala2703=)
c.8100C>T (p.Ala2700=)
c.8094C>T (p.Ala2698=)
c.8016C>T (p.Ala2672=)
c.7932C>T (p.Ala2644=)
n.353-6742G>A
c.7995C>T (p.Ala2665=)
c.3255C>T (p.Ala1085=)
n.392-6742G>A
 gnomAD v4
2g.219489152T>ACA350708718ASIC4-AS1,SPEGc.8248T>A (p.Cys2750Ser)
n.7491T>A
c.7966T>A (p.Cys2656Ser)
c.5872T>A (p.Cys1958Ser)
c.5701T>A (p.Cys1901Ser)
c.5887T>A (p.Cys1963Ser)
c.7936T>A (p.Cys2646Ser)
c.8278T>A (p.Cys2760Ser)
c.8110T>A (p.Cys2704Ser)
c.8101T>A (p.Cys2701Ser)
c.8095T>A (p.Cys2699Ser)
c.8017T>A (p.Cys2673Ser)
c.7933T>A (p.Cys2645Ser)
n.353-6743A>T
c.7996T>A (p.Cys2666Ser)
c.3256T>A (p.Cys1086Ser)
n.392-6743A>T
2g.219489152T>CCA350708719ASIC4-AS1,SPEGc.8248T>C (p.Cys2750Arg)
n.7491T>C
c.7966T>C (p.Cys2656Arg)
c.5872T>C (p.Cys1958Arg)
c.5701T>C (p.Cys1901Arg)
c.5887T>C (p.Cys1963Arg)
c.7936T>C (p.Cys2646Arg)
c.8278T>C (p.Cys2760Arg)
c.8110T>C (p.Cys2704Arg)
c.8101T>C (p.Cys2701Arg)
c.8095T>C (p.Cys2699Arg)
c.8017T>C (p.Cys2673Arg)
c.7933T>C (p.Cys2645Arg)
n.353-6743A>G
c.7996T>C (p.Cys2666Arg)
c.3256T>C (p.Cys1086Arg)
n.392-6743A>G
2g.219489152T>GCA350708720ASIC4-AS1,SPEGc.8248T>G (p.Cys2750Gly)
n.7491T>G
c.7966T>G (p.Cys2656Gly)
c.5872T>G (p.Cys1958Gly)
c.5701T>G (p.Cys1901Gly)
c.5887T>G (p.Cys1963Gly)
c.7936T>G (p.Cys2646Gly)
c.8278T>G (p.Cys2760Gly)
c.8110T>G (p.Cys2704Gly)
c.8101T>G (p.Cys2701Gly)
c.8095T>G (p.Cys2699Gly)
c.8017T>G (p.Cys2673Gly)
c.7933T>G (p.Cys2645Gly)
n.353-6743A>C
c.7996T>G (p.Cys2666Gly)
c.3256T>G (p.Cys1086Gly)
n.392-6743A>C
2g.219489153G>ACA350708723ASIC4-AS1,SPEGc.8249G>A (p.Cys2750Tyr)
n.7492G>A
c.7967G>A (p.Cys2656Tyr)
c.5873G>A (p.Cys1958Tyr)
c.5702G>A (p.Cys1901Tyr)
c.5888G>A (p.Cys1963Tyr)
c.7937G>A (p.Cys2646Tyr)
c.8279G>A (p.Cys2760Tyr)
c.8111G>A (p.Cys2704Tyr)
c.8102G>A (p.Cys2701Tyr)
c.8096G>A (p.Cys2699Tyr)
c.8018G>A (p.Cys2673Tyr)
c.7934G>A (p.Cys2645Tyr)
n.353-6744C>T
c.7997G>A (p.Cys2666Tyr)
c.3257G>A (p.Cys1086Tyr)
n.392-6744C>T
2g.219489153G>CCA350708721ASIC4-AS1,SPEGc.8249G>C (p.Cys2750Ser)
n.7492G>C
c.7967G>C (p.Cys2656Ser)
c.5873G>C (p.Cys1958Ser)
c.5702G>C (p.Cys1901Ser)
c.5888G>C (p.Cys1963Ser)
c.7937G>C (p.Cys2646Ser)
c.8279G>C (p.Cys2760Ser)
c.8111G>C (p.Cys2704Ser)
c.8102G>C (p.Cys2701Ser)
c.8096G>C (p.Cys2699Ser)
c.8018G>C (p.Cys2673Ser)
c.7934G>C (p.Cys2645Ser)
n.353-6744C>G
c.7997G>C (p.Cys2666Ser)
c.3257G>C (p.Cys1086Ser)
n.392-6744C>G
2g.219489153G>TCA350708722ASIC4-AS1,SPEGc.8249G>T (p.Cys2750Phe)
n.7492G>T
c.7967G>T (p.Cys2656Phe)
c.5873G>T (p.Cys1958Phe)
c.5702G>T (p.Cys1901Phe)
c.5888G>T (p.Cys1963Phe)
c.7937G>T (p.Cys2646Phe)
c.8279G>T (p.Cys2760Phe)
c.8111G>T (p.Cys2704Phe)
c.8102G>T (p.Cys2701Phe)
c.8096G>T (p.Cys2699Phe)
c.8018G>T (p.Cys2673Phe)
c.7934G>T (p.Cys2645Phe)
n.353-6744C>A
c.7997G>T (p.Cys2666Phe)
c.3257G>T (p.Cys1086Phe)
n.392-6744C>A
2g.219489154T>ACA350708724ASIC4-AS1,SPEGc.8250T>A (p.Cys2750Ter)
n.7493T>A
c.7968T>A (p.Cys2656Ter)
c.5874T>A (p.Cys1958Ter)
c.5703T>A (p.Cys1901Ter)
c.5889T>A (p.Cys1963Ter)
c.7938T>A (p.Cys2646Ter)
c.8280T>A (p.Cys2760Ter)
c.8112T>A (p.Cys2704Ter)
c.8103T>A (p.Cys2701Ter)
c.8097T>A (p.Cys2699Ter)
c.8019T>A (p.Cys2673Ter)
c.7935T>A (p.Cys2645Ter)
n.353-6745A>T
c.7998T>A (p.Cys2666Ter)
c.3258T>A (p.Cys1086Ter)
n.392-6745A>T
2g.219489154T>CCA431431490ASIC4-AS1,SPEGc.8250T>C (p.Cys2750=)
n.7493T>C
c.7968T>C (p.Cys2656=)
c.5874T>C (p.Cys1958=)
c.5703T>C (p.Cys1901=)
c.5889T>C (p.Cys1963=)
c.7938T>C (p.Cys2646=)
c.8280T>C (p.Cys2760=)
c.8112T>C (p.Cys2704=)
c.8103T>C (p.Cys2701=)
c.8097T>C (p.Cys2699=)
c.8019T>C (p.Cys2673=)
c.7935T>C (p.Cys2645=)
n.353-6745A>G
c.7998T>C (p.Cys2666=)
c.3258T>C (p.Cys1086=)
n.392-6745A>G
2g.219489154T>GCA350708725ASIC4-AS1,SPEGc.8250T>G (p.Cys2750Trp)
n.7493T>G
c.7968T>G (p.Cys2656Trp)
c.5874T>G (p.Cys1958Trp)
c.5703T>G (p.Cys1901Trp)
c.5889T>G (p.Cys1963Trp)
c.7938T>G (p.Cys2646Trp)
c.8280T>G (p.Cys2760Trp)
c.8112T>G (p.Cys2704Trp)
c.8103T>G (p.Cys2701Trp)
c.8097T>G (p.Cys2699Trp)
c.8019T>G (p.Cys2673Trp)
c.7935T>G (p.Cys2645Trp)
n.353-6745A>C
c.7998T>G (p.Cys2666Trp)
c.3258T>G (p.Cys1086Trp)
n.392-6745A>C
2g.219489155G>ACA350708726ASIC4-AS1,SPEGc.8251G>A (p.Ala2751Thr)
n.7494G>A
c.7969G>A (p.Ala2657Thr)
c.5875G>A (p.Ala1959Thr)
c.5704G>A (p.Ala1902Thr)
c.5890G>A (p.Ala1964Thr)
c.7939G>A (p.Ala2647Thr)
c.8281G>A (p.Ala2761Thr)
c.8113G>A (p.Ala2705Thr)
c.8104G>A (p.Ala2702Thr)
c.8098G>A (p.Ala2700Thr)
c.8020G>A (p.Ala2674Thr)
c.7936G>A (p.Ala2646Thr)
n.353-6746C>T
c.7999G>A (p.Ala2667Thr)
c.3259G>A (p.Ala1087Thr)
n.392-6746C>T
 gnomAD v4
2g.219489155G>CCA350708727ASIC4-AS1,SPEGc.8251G>C (p.Ala2751Pro)
n.7494G>C
c.7969G>C (p.Ala2657Pro)
c.5875G>C (p.Ala1959Pro)
c.5704G>C (p.Ala1902Pro)
c.5890G>C (p.Ala1964Pro)
c.7939G>C (p.Ala2647Pro)
c.8281G>C (p.Ala2761Pro)
c.8113G>C (p.Ala2705Pro)
c.8104G>C (p.Ala2702Pro)
c.8098G>C (p.Ala2700Pro)
c.8020G>C (p.Ala2674Pro)
c.7936G>C (p.Ala2646Pro)
n.353-6746C>G
c.7999G>C (p.Ala2667Pro)
c.3259G>C (p.Ala1087Pro)
n.392-6746C>G
2g.219489155G>TCA350708728ASIC4-AS1,SPEGc.8251G>T (p.Ala2751Ser)
n.7494G>T
c.7969G>T (p.Ala2657Ser)
c.5875G>T (p.Ala1959Ser)
c.5704G>T (p.Ala1902Ser)
c.5890G>T (p.Ala1964Ser)
c.7939G>T (p.Ala2647Ser)
c.8281G>T (p.Ala2761Ser)
c.8113G>T (p.Ala2705Ser)
c.8104G>T (p.Ala2702Ser)
c.8098G>T (p.Ala2700Ser)
c.8020G>T (p.Ala2674Ser)
c.7936G>T (p.Ala2646Ser)
n.353-6746C>A
c.7999G>T (p.Ala2667Ser)
c.3259G>T (p.Ala1087Ser)
n.392-6746C>A
2g.219489156C>ACA350708729ASIC4-AS1,SPEGc.8252C>A (p.Ala2751Asp)
n.7495C>A
c.7970C>A (p.Ala2657Asp)
c.5876C>A (p.Ala1959Asp)
c.5705C>A (p.Ala1902Asp)
c.5891C>A (p.Ala1964Asp)
c.7940C>A (p.Ala2647Asp)
c.8282C>A (p.Ala2761Asp)
c.8114C>A (p.Ala2705Asp)
c.8105C>A (p.Ala2702Asp)
c.8099C>A (p.Ala2700Asp)
c.8021C>A (p.Ala2674Asp)
c.7937C>A (p.Ala2646Asp)
n.353-6747G>T
c.8000C>A (p.Ala2667Asp)
c.3260C>A (p.Ala1087Asp)
n.392-6747G>T
2g.219489156C=CA1329242225ASIC4-AS1,SPEGc.8252C= (p.Ala2751=)
n.7495C=
c.7970C= (p.Ala2657=)
c.5876C= (p.Ala1959=)
c.5705C= (p.Ala1902=)
c.5891C= (p.Ala1964=)
c.7940C= (p.Ala2647=)
c.8282C= (p.Ala2761=)
c.8114C= (p.Ala2705=)
c.8105C= (p.Ala2702=)
c.8099C= (p.Ala2700=)
c.8021C= (p.Ala2674=)
c.7937C= (p.Ala2646=)
n.353-6747G=
c.8000C= (p.Ala2667=)
c.3260C= (p.Ala1087=)
n.392-6747G=
2g.219489156C>GCA350708730ASIC4-AS1,SPEGc.8252C>G (p.Ala2751Gly)
n.7495C>G
c.7970C>G (p.Ala2657Gly)
c.5876C>G (p.Ala1959Gly)
c.5705C>G (p.Ala1902Gly)
c.5891C>G (p.Ala1964Gly)
c.7940C>G (p.Ala2647Gly)
c.8282C>G (p.Ala2761Gly)
c.8114C>G (p.Ala2705Gly)
c.8105C>G (p.Ala2702Gly)
c.8099C>G (p.Ala2700Gly)
c.8021C>G (p.Ala2674Gly)
c.7937C>G (p.Ala2646Gly)
n.353-6747G>C
c.8000C>G (p.Ala2667Gly)
c.3260C>G (p.Ala1087Gly)
n.392-6747G>C
2g.219489156C>TCA350708731ASIC4-AS1,SPEGc.8252C>T (p.Ala2751Val)
n.7495C>T
c.7970C>T (p.Ala2657Val)
c.5876C>T (p.Ala1959Val)
c.5705C>T (p.Ala1902Val)
c.5891C>T (p.Ala1964Val)
c.7940C>T (p.Ala2647Val)
c.8282C>T (p.Ala2761Val)
c.8114C>T (p.Ala2705Val)
c.8105C>T (p.Ala2702Val)
c.8099C>T (p.Ala2700Val)
c.8021C>T (p.Ala2674Val)
c.7937C>T (p.Ala2646Val)
n.353-6747G>A
c.8000C>T (p.Ala2667Val)
c.3260C>T (p.Ala1087Val)
n.392-6747G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.219489157C>ACA431431389ASIC4-AS1,SPEGc.8253C>A (p.Ala2751=)
n.7496C>A
c.7971C>A (p.Ala2657=)
c.5877C>A (p.Ala1959=)
c.5706C>A (p.Ala1902=)
c.5892C>A (p.Ala1964=)
c.7941C>A (p.Ala2647=)
c.8283C>A (p.Ala2761=)
c.8115C>A (p.Ala2705=)
c.8106C>A (p.Ala2702=)
c.8100C>A (p.Ala2700=)
c.8022C>A (p.Ala2674=)
c.7938C>A (p.Ala2646=)
n.353-6748G>T
c.8001C>A (p.Ala2667=)
c.3261C>A (p.Ala1087=)
n.392-6748G>T
2g.219489157C>GCA431431390ASIC4-AS1,SPEGc.8253C>G (p.Ala2751=)
n.7496C>G
c.7971C>G (p.Ala2657=)
c.5877C>G (p.Ala1959=)
c.5706C>G (p.Ala1902=)
c.5892C>G (p.Ala1964=)
c.7941C>G (p.Ala2647=)
c.8283C>G (p.Ala2761=)
c.8115C>G (p.Ala2705=)
c.8106C>G (p.Ala2702=)
c.8100C>G (p.Ala2700=)
c.8022C>G (p.Ala2674=)
c.7938C>G (p.Ala2646=)
n.353-6748G>C
c.8001C>G (p.Ala2667=)
c.3261C>G (p.Ala1087=)
n.392-6748G>C
2g.219489157C>TCA431431391ASIC4-AS1,SPEGc.8253C>T (p.Ala2751=)
n.7496C>T
c.7971C>T (p.Ala2657=)
c.5877C>T (p.Ala1959=)
c.5706C>T (p.Ala1902=)
c.5892C>T (p.Ala1964=)
c.7941C>T (p.Ala2647=)
c.8283C>T (p.Ala2761=)
c.8115C>T (p.Ala2705=)
c.8106C>T (p.Ala2702=)
c.8100C>T (p.Ala2700=)
c.8022C>T (p.Ala2674=)
c.7938C>T (p.Ala2646=)
n.353-6748G>A
c.8001C>T (p.Ala2667=)
c.3261C>T (p.Ala1087=)
n.392-6748G>A
2g.219489158A>CCA350708732ASIC4-AS1,SPEGc.8254A>C (p.Asn2752His)
n.7497A>C
c.7972A>C (p.Asn2658His)
c.5878A>C (p.Asn1960His)
c.5707A>C (p.Asn1903His)
c.5893A>C (p.Asn1965His)
c.7942A>C (p.Asn2648His)
c.8284A>C (p.Asn2762His)
c.8116A>C (p.Asn2706His)
c.8107A>C (p.Asn2703His)
c.8101A>C (p.Asn2701His)
c.8023A>C (p.Asn2675His)
c.7939A>C (p.Asn2647His)
n.353-6749T>G
c.8002A>C (p.Asn2668His)
c.3262A>C (p.Asn1088His)
n.392-6749T>G
2g.219489158A>GCA350708733ASIC4-AS1,SPEGc.8254A>G (p.Asn2752Asp)
n.7497A>G
c.7972A>G (p.Asn2658Asp)
c.5878A>G (p.Asn1960Asp)
c.5707A>G (p.Asn1903Asp)
c.5893A>G (p.Asn1965Asp)
c.7942A>G (p.Asn2648Asp)
c.8284A>G (p.Asn2762Asp)
c.8116A>G (p.Asn2706Asp)
c.8107A>G (p.Asn2703Asp)
c.8101A>G (p.Asn2701Asp)
c.8023A>G (p.Asn2675Asp)
c.7939A>G (p.Asn2647Asp)
n.353-6749T>C
c.8002A>G (p.Asn2668Asp)
c.3262A>G (p.Asn1088Asp)
n.392-6749T>C
2g.219489158A>TCA350708734ASIC4-AS1,SPEGc.8254A>T (p.Asn2752Tyr)
n.7497A>T
c.7972A>T (p.Asn2658Tyr)
c.5878A>T (p.Asn1960Tyr)
c.5707A>T (p.Asn1903Tyr)
c.5893A>T (p.Asn1965Tyr)
c.7942A>T (p.Asn2648Tyr)
c.8284A>T (p.Asn2762Tyr)
c.8116A>T (p.Asn2706Tyr)
c.8107A>T (p.Asn2703Tyr)
c.8101A>T (p.Asn2701Tyr)
c.8023A>T (p.Asn2675Tyr)
c.7939A>T (p.Asn2647Tyr)
n.353-6749T>A
c.8002A>T (p.Asn2668Tyr)
c.3262A>T (p.Asn1088Tyr)
n.392-6749T>A
2g.219489159A>CCA350708737ASIC4-AS1,SPEGc.8255A>C (p.Asn2752Thr)
n.7498A>C
c.7973A>C (p.Asn2658Thr)
c.5879A>C (p.Asn1960Thr)
c.5708A>C (p.Asn1903Thr)
c.5894A>C (p.Asn1965Thr)
c.7943A>C (p.Asn2648Thr)
c.8285A>C (p.Asn2762Thr)
c.8117A>C (p.Asn2706Thr)
c.8108A>C (p.Asn2703Thr)
c.8102A>C (p.Asn2701Thr)
c.8024A>C (p.Asn2675Thr)
c.7940A>C (p.Asn2647Thr)
n.353-6750T>G
c.8003A>C (p.Asn2668Thr)
c.3263A>C (p.Asn1088Thr)
n.392-6750T>G
2g.219489159A>GCA350708736ASIC4-AS1,SPEGc.8255A>G (p.Asn2752Ser)
n.7498A>G
c.7973A>G (p.Asn2658Ser)
c.5879A>G (p.Asn1960Ser)
c.5708A>G (p.Asn1903Ser)
c.5894A>G (p.Asn1965Ser)
c.7943A>G (p.Asn2648Ser)
c.8285A>G (p.Asn2762Ser)
c.8117A>G (p.Asn2706Ser)
c.8108A>G (p.Asn2703Ser)
c.8102A>G (p.Asn2701Ser)
c.8024A>G (p.Asn2675Ser)
c.7940A>G (p.Asn2647Ser)
n.353-6750T>C
c.8003A>G (p.Asn2668Ser)
c.3263A>G (p.Asn1088Ser)
n.392-6750T>C
2g.219489159A>TCA350708735ASIC4-AS1,SPEGc.8255A>T (p.Asn2752Ile)
n.7498A>T
c.7973A>T (p.Asn2658Ile)
c.5879A>T (p.Asn1960Ile)
c.5708A>T (p.Asn1903Ile)
c.5894A>T (p.Asn1965Ile)
c.7943A>T (p.Asn2648Ile)
c.8285A>T (p.Asn2762Ile)
c.8117A>T (p.Asn2706Ile)
c.8108A>T (p.Asn2703Ile)
c.8102A>T (p.Asn2701Ile)
c.8024A>T (p.Asn2675Ile)
c.7940A>T (p.Asn2647Ile)
n.353-6750T>A
c.8003A>T (p.Asn2668Ile)
c.3263A>T (p.Asn1088Ile)
n.392-6750T>A
2g.219489160C>ACA350708738ASIC4-AS1,SPEGc.8256C>A (p.Asn2752Lys)
n.7499C>A
c.7974C>A (p.Asn2658Lys)
c.5880C>A (p.Asn1960Lys)
c.5709C>A (p.Asn1903Lys)
c.5895C>A (p.Asn1965Lys)
c.7944C>A (p.Asn2648Lys)
c.8286C>A (p.Asn2762Lys)
c.8118C>A (p.Asn2706Lys)
c.8109C>A (p.Asn2703Lys)
c.8103C>A (p.Asn2701Lys)
c.8025C>A (p.Asn2675Lys)
c.7941C>A (p.Asn2647Lys)
n.353-6751G>T
c.8004C>A (p.Asn2668Lys)
c.3264C>A (p.Asn1088Lys)
n.392-6751G>T
 COSMIC
2g.219489160C=CA1329242226ASIC4-AS1,SPEGc.8256C= (p.Asn2752=)
n.7499C=
c.7974C= (p.Asn2658=)
c.5880C= (p.Asn1960=)
c.5709C= (p.Asn1903=)
c.5895C= (p.Asn1965=)
c.7944C= (p.Asn2648=)
c.8286C= (p.Asn2762=)
c.8118C= (p.Asn2706=)
c.8109C= (p.Asn2703=)
c.8103C= (p.Asn2701=)
c.8025C= (p.Asn2675=)
c.7941C= (p.Asn2647=)
n.353-6751G=
c.8004C= (p.Asn2668=)
c.3264C= (p.Asn1088=)
n.392-6751G=
2g.219489160C>GCA350708739ASIC4-AS1,SPEGc.8256C>G (p.Asn2752Lys)
n.7499C>G
c.7974C>G (p.Asn2658Lys)
c.5880C>G (p.Asn1960Lys)
c.5709C>G (p.Asn1903Lys)
c.5895C>G (p.Asn1965Lys)
c.7944C>G (p.Asn2648Lys)
c.8286C>G (p.Asn2762Lys)
c.8118C>G (p.Asn2706Lys)
c.8109C>G (p.Asn2703Lys)
c.8103C>G (p.Asn2701Lys)
c.8025C>G (p.Asn2675Lys)
c.7941C>G (p.Asn2647Lys)
n.353-6751G>C
c.8004C>G (p.Asn2668Lys)
c.3264C>G (p.Asn1088Lys)
n.392-6751G>C
2g.219489160C>TCA431431397ASIC4-AS1,SPEGc.8256C>T (p.Asn2752=)
n.7499C>T
c.7974C>T (p.Asn2658=)
c.5880C>T (p.Asn1960=)
c.5709C>T (p.Asn1903=)
c.5895C>T (p.Asn1965=)
c.7944C>T (p.Asn2648=)
c.8286C>T (p.Asn2762=)
c.8118C>T (p.Asn2706=)
c.8109C>T (p.Asn2703=)
c.8103C>T (p.Asn2701=)
c.8025C>T (p.Asn2675=)
c.7941C>T (p.Asn2647=)
n.353-6751G>A
c.8004C>T (p.Asn2668=)
c.3264C>T (p.Asn1088=)
n.392-6751G>A
 dbSNP
2g.219489161C>ACA350708740ASIC4-AS1,SPEGc.8257C>A (p.Arg2753Ser)
n.7500C>A
c.7975C>A (p.Arg2659Ser)
c.5881C>A (p.Arg1961Ser)
c.5710C>A (p.Arg1904Ser)
c.5896C>A (p.Arg1966Ser)
c.7945C>A (p.Arg2649Ser)
c.8287C>A (p.Arg2763Ser)
c.8119C>A (p.Arg2707Ser)
c.8110C>A (p.Arg2704Ser)
c.8104C>A (p.Arg2702Ser)
c.8026C>A (p.Arg2676Ser)
c.7942C>A (p.Arg2648Ser)
n.353-6752G>T
c.8005C>A (p.Arg2669Ser)
c.3265C>A (p.Arg1089Ser)
n.392-6752G>T
2g.219489161C=CA1329242227ASIC4-AS1,SPEGc.8257C= (p.Arg2753=)
n.7500C=
c.7975C= (p.Arg2659=)
c.5881C= (p.Arg1961=)
c.5710C= (p.Arg1904=)
c.5896C= (p.Arg1966=)
c.7945C= (p.Arg2649=)
c.8287C= (p.Arg2763=)
c.8119C= (p.Arg2707=)
c.8110C= (p.Arg2704=)
c.8104C= (p.Arg2702=)
c.8026C= (p.Arg2676=)
c.7942C= (p.Arg2648=)
n.353-6752G=
c.8005C= (p.Arg2669=)
c.3265C= (p.Arg1089=)
n.392-6752G=
2g.219489161C>GCA350708741ASIC4-AS1,SPEGc.8257C>G (p.Arg2753Gly)
n.7500C>G
c.7975C>G (p.Arg2659Gly)
c.5881C>G (p.Arg1961Gly)
c.5710C>G (p.Arg1904Gly)
c.5896C>G (p.Arg1966Gly)
c.7945C>G (p.Arg2649Gly)
c.8287C>G (p.Arg2763Gly)
c.8119C>G (p.Arg2707Gly)
c.8110C>G (p.Arg2704Gly)
c.8104C>G (p.Arg2702Gly)
c.8026C>G (p.Arg2676Gly)
c.7942C>G (p.Arg2648Gly)
n.353-6752G>C
c.8005C>G (p.Arg2669Gly)
c.3265C>G (p.Arg1089Gly)
n.392-6752G>C
 dbSNP
2g.219489161C>TCA65996949ASIC4-AS1,SPEGc.8257C>T (p.Arg2753Cys)
n.7500C>T
c.7975C>T (p.Arg2659Cys)
c.5881C>T (p.Arg1961Cys)
c.5710C>T (p.Arg1904Cys)
c.5896C>T (p.Arg1966Cys)
c.7945C>T (p.Arg2649Cys)
c.8287C>T (p.Arg2763Cys)
c.8119C>T (p.Arg2707Cys)
c.8110C>T (p.Arg2704Cys)
c.8104C>T (p.Arg2702Cys)
c.8026C>T (p.Arg2676Cys)
c.7942C>T (p.Arg2648Cys)
n.353-6752G>A
c.8005C>T (p.Arg2669Cys)
c.3265C>T (p.Arg1089Cys)
n.392-6752G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.219489162G>ACA2127435ASIC4-AS1,SPEGc.8258G>A (p.Arg2753His)
n.7501G>A
c.7976G>A (p.Arg2659His)
c.5882G>A (p.Arg1961His)
c.5711G>A (p.Arg1904His)
c.5897G>A (p.Arg1966His)
c.7946G>A (p.Arg2649His)
c.8288G>A (p.Arg2763His)
c.8120G>A (p.Arg2707His)
c.8111G>A (p.Arg2704His)
c.8105G>A (p.Arg2702His)
c.8027G>A (p.Arg2676His)
c.7943G>A (p.Arg2648His)
n.353-6753C>T
c.8006G>A (p.Arg2669His)
c.3266G>A (p.Arg1089His)
n.392-6753C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489162G>CCA350708743ASIC4-AS1,SPEGc.8258G>C (p.Arg2753Pro)
n.7501G>C
c.7976G>C (p.Arg2659Pro)
c.5882G>C (p.Arg1961Pro)
c.5711G>C (p.Arg1904Pro)
c.5897G>C (p.Arg1966Pro)
c.7946G>C (p.Arg2649Pro)
c.8288G>C (p.Arg2763Pro)
c.8120G>C (p.Arg2707Pro)
c.8111G>C (p.Arg2704Pro)
c.8105G>C (p.Arg2702Pro)
c.8027G>C (p.Arg2676Pro)
c.7943G>C (p.Arg2648Pro)
n.353-6753C>G
c.8006G>C (p.Arg2669Pro)
c.3266G>C (p.Arg1089Pro)
n.392-6753C>G
2g.219489162G=CA1329242228ASIC4-AS1,SPEGc.8258G= (p.Arg2753=)
n.7501G=
c.7976G= (p.Arg2659=)
c.5882G= (p.Arg1961=)
c.5711G= (p.Arg1904=)
c.5897G= (p.Arg1966=)
c.7946G= (p.Arg2649=)
c.8288G= (p.Arg2763=)
c.8120G= (p.Arg2707=)
c.8111G= (p.Arg2704=)
c.8105G= (p.Arg2702=)
c.8027G= (p.Arg2676=)
c.7943G= (p.Arg2648=)
n.353-6753C=
c.8006G= (p.Arg2669=)
c.3266G= (p.Arg1089=)
n.392-6753C=
2g.219489162G>TCA350708742ASIC4-AS1,SPEGc.8258G>T (p.Arg2753Leu)
n.7501G>T
c.7976G>T (p.Arg2659Leu)
c.5882G>T (p.Arg1961Leu)
c.5711G>T (p.Arg1904Leu)
c.5897G>T (p.Arg1966Leu)
c.7946G>T (p.Arg2649Leu)
c.8288G>T (p.Arg2763Leu)
c.8120G>T (p.Arg2707Leu)
c.8111G>T (p.Arg2704Leu)
c.8105G>T (p.Arg2702Leu)
c.8027G>T (p.Arg2676Leu)
c.7943G>T (p.Arg2648Leu)
n.353-6753C>A
c.8006G>T (p.Arg2669Leu)
c.3266G>T (p.Arg1089Leu)
n.392-6753C>A
2g.219489163T>ACA431431405ASIC4-AS1,SPEGc.8259T>A (p.Arg2753=)
n.7502T>A
c.7977T>A (p.Arg2659=)
c.5883T>A (p.Arg1961=)
c.5712T>A (p.Arg1904=)
c.5898T>A (p.Arg1966=)
c.7947T>A (p.Arg2649=)
c.8289T>A (p.Arg2763=)
c.8121T>A (p.Arg2707=)
c.8112T>A (p.Arg2704=)
c.8106T>A (p.Arg2702=)
c.8028T>A (p.Arg2676=)
c.7944T>A (p.Arg2648=)
n.353-6754A>T
c.8007T>A (p.Arg2669=)
c.3267T>A (p.Arg1089=)
n.392-6754A>T
2g.219489163T>CCA431431408ASIC4-AS1,SPEGc.8259T>C (p.Arg2753=)
n.7502T>C
c.7977T>C (p.Arg2659=)
c.5883T>C (p.Arg1961=)
c.5712T>C (p.Arg1904=)
c.5898T>C (p.Arg1966=)
c.7947T>C (p.Arg2649=)
c.8289T>C (p.Arg2763=)
c.8121T>C (p.Arg2707=)
c.8112T>C (p.Arg2704=)
c.8106T>C (p.Arg2702=)
c.8028T>C (p.Arg2676=)
c.7944T>C (p.Arg2648=)
n.353-6754A>G
c.8007T>C (p.Arg2669=)
c.3267T>C (p.Arg1089=)
n.392-6754A>G
2g.219489163T>GCA431431410ASIC4-AS1,SPEGc.8259T>G (p.Arg2753=)
n.7502T>G
c.7977T>G (p.Arg2659=)
c.5883T>G (p.Arg1961=)
c.5712T>G (p.Arg1904=)
c.5898T>G (p.Arg1966=)
c.7947T>G (p.Arg2649=)
c.8289T>G (p.Arg2763=)
c.8121T>G (p.Arg2707=)
c.8112T>G (p.Arg2704=)
c.8106T>G (p.Arg2702=)
c.8028T>G (p.Arg2676=)
c.7944T>G (p.Arg2648=)
n.353-6754A>C
c.8007T>G (p.Arg2669=)
c.3267T>G (p.Arg1089=)
n.392-6754A>C
2g.219489164G>ACA2127436ASIC4-AS1,SPEGc.8260G>A (p.Ala2754Thr)
n.7503G>A
c.7978G>A (p.Ala2660Thr)
c.5884G>A (p.Ala1962Thr)
c.5713G>A (p.Ala1905Thr)
c.5899G>A (p.Ala1967Thr)
c.7948G>A (p.Ala2650Thr)
c.8290G>A (p.Ala2764Thr)
c.8122G>A (p.Ala2708Thr)
c.8113G>A (p.Ala2705Thr)
c.8107G>A (p.Ala2703Thr)
c.8029G>A (p.Ala2677Thr)
c.7945G>A (p.Ala2649Thr)
n.353-6755C>T
c.8008G>A (p.Ala2670Thr)
c.3268G>A (p.Ala1090Thr)
n.392-6755C>T
 dbSNP ExAC gnomAD v2
2g.219489164G>CCA350708744ASIC4-AS1,SPEGc.8260G>C (p.Ala2754Pro)
n.7503G>C
c.7978G>C (p.Ala2660Pro)
c.5884G>C (p.Ala1962Pro)
c.5713G>C (p.Ala1905Pro)
c.5899G>C (p.Ala1967Pro)
c.7948G>C (p.Ala2650Pro)
c.8290G>C (p.Ala2764Pro)
c.8122G>C (p.Ala2708Pro)
c.8113G>C (p.Ala2705Pro)
c.8107G>C (p.Ala2703Pro)
c.8029G>C (p.Ala2677Pro)
c.7945G>C (p.Ala2649Pro)
n.353-6755C>G
c.8008G>C (p.Ala2670Pro)
c.3268G>C (p.Ala1090Pro)
n.392-6755C>G
2g.219489164G=CA1329242229ASIC4-AS1,SPEGc.8260G= (p.Ala2754=)
n.7503G=
c.7978G= (p.Ala2660=)
c.5884G= (p.Ala1962=)
c.5713G= (p.Ala1905=)
c.5899G= (p.Ala1967=)
c.7948G= (p.Ala2650=)
c.8290G= (p.Ala2764=)
c.8122G= (p.Ala2708=)
c.8113G= (p.Ala2705=)
c.8107G= (p.Ala2703=)
c.8029G= (p.Ala2677=)
c.7945G= (p.Ala2649=)
n.353-6755C=
c.8008G= (p.Ala2670=)
c.3268G= (p.Ala1090=)
n.392-6755C=
2g.219489164G>TCA350708745ASIC4-AS1,SPEGc.8260G>T (p.Ala2754Ser)
n.7503G>T
c.7978G>T (p.Ala2660Ser)
c.5884G>T (p.Ala1962Ser)
c.5713G>T (p.Ala1905Ser)
c.5899G>T (p.Ala1967Ser)
c.7948G>T (p.Ala2650Ser)
c.8290G>T (p.Ala2764Ser)
c.8122G>T (p.Ala2708Ser)
c.8113G>T (p.Ala2705Ser)
c.8107G>T (p.Ala2703Ser)
c.8029G>T (p.Ala2677Ser)
c.7945G>T (p.Ala2649Ser)
n.353-6755C>A
c.8008G>T (p.Ala2670Ser)
c.3268G>T (p.Ala1090Ser)
n.392-6755C>A
2g.219489165C>ACA350708746ASIC4-AS1,SPEGc.8261C>A (p.Ala2754Asp)
n.7504C>A
c.7979C>A (p.Ala2660Asp)
c.5885C>A (p.Ala1962Asp)
c.5714C>A (p.Ala1905Asp)
c.5900C>A (p.Ala1967Asp)
c.7949C>A (p.Ala2650Asp)
c.8291C>A (p.Ala2764Asp)
c.8123C>A (p.Ala2708Asp)
c.8114C>A (p.Ala2705Asp)
c.8108C>A (p.Ala2703Asp)
c.8030C>A (p.Ala2677Asp)
c.7946C>A (p.Ala2649Asp)
n.353-6756G>T
c.8009C>A (p.Ala2670Asp)
c.3269C>A (p.Ala1090Asp)
n.392-6756G>T
2g.219489165C=CA1329242230ASIC4-AS1,SPEGc.8261C= (p.Ala2754=)
n.7504C=
c.7979C= (p.Ala2660=)
c.5885C= (p.Ala1962=)
c.5714C= (p.Ala1905=)
c.5900C= (p.Ala1967=)
c.7949C= (p.Ala2650=)
c.8291C= (p.Ala2764=)
c.8123C= (p.Ala2708=)
c.8114C= (p.Ala2705=)
c.8108C= (p.Ala2703=)
c.8030C= (p.Ala2677=)
c.7946C= (p.Ala2649=)
n.353-6756G=
c.8009C= (p.Ala2670=)
c.3269C= (p.Ala1090=)
n.392-6756G=
2g.219489165C>GCA350708747ASIC4-AS1,SPEGc.8261C>G (p.Ala2754Gly)
n.7504C>G
c.7979C>G (p.Ala2660Gly)
c.5885C>G (p.Ala1962Gly)
c.5714C>G (p.Ala1905Gly)
c.5900C>G (p.Ala1967Gly)
c.7949C>G (p.Ala2650Gly)
c.8291C>G (p.Ala2764Gly)
c.8123C>G (p.Ala2708Gly)
c.8114C>G (p.Ala2705Gly)
c.8108C>G (p.Ala2703Gly)
c.8030C>G (p.Ala2677Gly)
c.7946C>G (p.Ala2649Gly)
n.353-6756G>C
c.8009C>G (p.Ala2670Gly)
c.3269C>G (p.Ala1090Gly)
n.392-6756G>C
2g.219489165C>TCA350708748ASIC4-AS1,SPEGc.8261C>T (p.Ala2754Val)
n.7504C>T
c.7979C>T (p.Ala2660Val)
c.5885C>T (p.Ala1962Val)
c.5714C>T (p.Ala1905Val)
c.5900C>T (p.Ala1967Val)
c.7949C>T (p.Ala2650Val)
c.8291C>T (p.Ala2764Val)
c.8123C>T (p.Ala2708Val)
c.8114C>T (p.Ala2705Val)
c.8108C>T (p.Ala2703Val)
c.8030C>T (p.Ala2677Val)
c.7946C>T (p.Ala2649Val)
n.353-6756G>A
c.8009C>T (p.Ala2670Val)
c.3269C>T (p.Ala1090Val)
n.392-6756G>A
 dbSNP gnomAD v3 gnomAD v4
2g.219489166T>ACA431431412ASIC4-AS1,SPEGc.8262T>A (p.Ala2754=)
n.7505T>A
c.7980T>A (p.Ala2660=)
c.5886T>A (p.Ala1962=)
c.5715T>A (p.Ala1905=)
c.5901T>A (p.Ala1967=)
c.7950T>A (p.Ala2650=)
c.8292T>A (p.Ala2764=)
c.8124T>A (p.Ala2708=)
c.8115T>A (p.Ala2705=)
c.8109T>A (p.Ala2703=)
c.8031T>A (p.Ala2677=)
c.7947T>A (p.Ala2649=)
n.353-6757A>T
c.8010T>A (p.Ala2670=)
c.3270T>A (p.Ala1090=)
n.392-6757A>T
2g.219489166T>CCA431431414ASIC4-AS1,SPEGc.8262T>C (p.Ala2754=)
n.7505T>C
c.7980T>C (p.Ala2660=)
c.5886T>C (p.Ala1962=)
c.5715T>C (p.Ala1905=)
c.5901T>C (p.Ala1967=)
c.7950T>C (p.Ala2650=)
c.8292T>C (p.Ala2764=)
c.8124T>C (p.Ala2708=)
c.8115T>C (p.Ala2705=)
c.8109T>C (p.Ala2703=)
c.8031T>C (p.Ala2677=)
c.7947T>C (p.Ala2649=)
n.353-6757A>G
c.8010T>C (p.Ala2670=)
c.3270T>C (p.Ala1090=)
n.392-6757A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489166T>GCA431431417ASIC4-AS1,SPEGc.8262T>G (p.Ala2754=)
n.7505T>G
c.7980T>G (p.Ala2660=)
c.5886T>G (p.Ala1962=)
c.5715T>G (p.Ala1905=)
c.5901T>G (p.Ala1967=)
c.7950T>G (p.Ala2650=)
c.8292T>G (p.Ala2764=)
c.8124T>G (p.Ala2708=)
c.8115T>G (p.Ala2705=)
c.8109T>G (p.Ala2703=)
c.8031T>G (p.Ala2677=)
c.7947T>G (p.Ala2649=)
n.353-6757A>C
c.8010T>G (p.Ala2670=)
c.3270T>G (p.Ala1090=)
n.392-6757A>C
 gnomAD v4
2g.219489166T=CA1329242231ASIC4-AS1,SPEGc.8262T= (p.Ala2754=)
n.7505T=
c.7980T= (p.Ala2660=)
c.5886T= (p.Ala1962=)
c.5715T= (p.Ala1905=)
c.5901T= (p.Ala1967=)
c.7950T= (p.Ala2650=)
c.8292T= (p.Ala2764=)
c.8124T= (p.Ala2708=)
c.8115T= (p.Ala2705=)
c.8109T= (p.Ala2703=)
c.8031T= (p.Ala2677=)
c.7947T= (p.Ala2649=)
n.353-6757A=
c.8010T= (p.Ala2670=)
c.3270T= (p.Ala1090=)
n.392-6757A=
2g.219489167G>ACA350708751ASIC4-AS1,SPEGc.8263G>A (p.Gly2755Arg)
n.7506G>A
c.7981G>A (p.Gly2661Arg)
c.5887G>A (p.Gly1963Arg)
c.5716G>A (p.Gly1906Arg)
c.5902G>A (p.Gly1968Arg)
c.7951G>A (p.Gly2651Arg)
c.8293G>A (p.Gly2765Arg)
c.8125G>A (p.Gly2709Arg)
c.8116G>A (p.Gly2706Arg)
c.8110G>A (p.Gly2704Arg)
c.8032G>A (p.Gly2678Arg)
c.7948G>A (p.Gly2650Arg)
n.353-6758C>T
c.8011G>A (p.Gly2671Arg)
c.3271G>A (p.Gly1091Arg)
n.392-6758C>T
 gnomAD v4
2g.219489167G>CCA350708749ASIC4-AS1,SPEGc.8263G>C (p.Gly2755Arg)
n.7506G>C
c.7981G>C (p.Gly2661Arg)
c.5887G>C (p.Gly1963Arg)
c.5716G>C (p.Gly1906Arg)
c.5902G>C (p.Gly1968Arg)
c.7951G>C (p.Gly2651Arg)
c.8293G>C (p.Gly2765Arg)
c.8125G>C (p.Gly2709Arg)
c.8116G>C (p.Gly2706Arg)
c.8110G>C (p.Gly2704Arg)
c.8032G>C (p.Gly2678Arg)
c.7948G>C (p.Gly2650Arg)
n.353-6758C>G
c.8011G>C (p.Gly2671Arg)
c.3271G>C (p.Gly1091Arg)
n.392-6758C>G
2g.219489167G>TCA350708750ASIC4-AS1,SPEGc.8263G>T (p.Gly2755Trp)
n.7506G>T
c.7981G>T (p.Gly2661Trp)
c.5887G>T (p.Gly1963Trp)
c.5716G>T (p.Gly1906Trp)
c.5902G>T (p.Gly1968Trp)
c.7951G>T (p.Gly2651Trp)
c.8293G>T (p.Gly2765Trp)
c.8125G>T (p.Gly2709Trp)
c.8116G>T (p.Gly2706Trp)
c.8110G>T (p.Gly2704Trp)
c.8032G>T (p.Gly2678Trp)
c.7948G>T (p.Gly2650Trp)
n.353-6758C>A
c.8011G>T (p.Gly2671Trp)
c.3271G>T (p.Gly1091Trp)
n.392-6758C>A
2g.219489168G>ACA350708752ASIC4-AS1,SPEGc.8264G>A (p.Gly2755Glu)
n.7507G>A
c.7982G>A (p.Gly2661Glu)
c.5888G>A (p.Gly1963Glu)
c.5717G>A (p.Gly1906Glu)
c.5903G>A (p.Gly1968Glu)
c.7952G>A (p.Gly2651Glu)
c.8294G>A (p.Gly2765Glu)
c.8126G>A (p.Gly2709Glu)
c.8117G>A (p.Gly2706Glu)
c.8111G>A (p.Gly2704Glu)
c.8033G>A (p.Gly2678Glu)
c.7949G>A (p.Gly2650Glu)
n.353-6759C>T
c.8012G>A (p.Gly2671Glu)
c.3272G>A (p.Gly1091Glu)
n.392-6759C>T
2g.219489168G>CCA350708753ASIC4-AS1,SPEGc.8264G>C (p.Gly2755Ala)
n.7507G>C
c.7982G>C (p.Gly2661Ala)
c.5888G>C (p.Gly1963Ala)
c.5717G>C (p.Gly1906Ala)
c.5903G>C (p.Gly1968Ala)
c.7952G>C (p.Gly2651Ala)
c.8294G>C (p.Gly2765Ala)
c.8126G>C (p.Gly2709Ala)
c.8117G>C (p.Gly2706Ala)
c.8111G>C (p.Gly2704Ala)
c.8033G>C (p.Gly2678Ala)
c.7949G>C (p.Gly2650Ala)
n.353-6759C>G
c.8012G>C (p.Gly2671Ala)
c.3272G>C (p.Gly1091Ala)
n.392-6759C>G
2g.219489168G>TCA350708754ASIC4-AS1,SPEGc.8264G>T (p.Gly2755Val)
n.7507G>T
c.7982G>T (p.Gly2661Val)
c.5888G>T (p.Gly1963Val)
c.5717G>T (p.Gly1906Val)
c.5903G>T (p.Gly1968Val)
c.7952G>T (p.Gly2651Val)
c.8294G>T (p.Gly2765Val)
c.8126G>T (p.Gly2709Val)
c.8117G>T (p.Gly2706Val)
c.8111G>T (p.Gly2704Val)
c.8033G>T (p.Gly2678Val)
c.7949G>T (p.Gly2650Val)
n.353-6759C>A
c.8012G>T (p.Gly2671Val)
c.3272G>T (p.Gly1091Val)
n.392-6759C>A
2g.219489169G>ACA431431423ASIC4-AS1,SPEGc.8265G>A (p.Gly2755=)
n.7508G>A
c.7983G>A (p.Gly2661=)
c.5889G>A (p.Gly1963=)
c.5718G>A (p.Gly1906=)
c.5904G>A (p.Gly1968=)
c.7953G>A (p.Gly2651=)
c.8295G>A (p.Gly2765=)
c.8127G>A (p.Gly2709=)
c.8118G>A (p.Gly2706=)
c.8112G>A (p.Gly2704=)
c.8034G>A (p.Gly2678=)
c.7950G>A (p.Gly2650=)
n.353-6760C>T
c.8013G>A (p.Gly2671=)
c.3273G>A (p.Gly1091=)
n.392-6760C>T
2g.219489169G>CCA2127437ASIC4-AS1,SPEGc.8265G>C (p.Gly2755=)
n.7508G>C
c.7983G>C (p.Gly2661=)
c.5889G>C (p.Gly1963=)
c.5718G>C (p.Gly1906=)
c.5904G>C (p.Gly1968=)
c.7953G>C (p.Gly2651=)
c.8295G>C (p.Gly2765=)
c.8127G>C (p.Gly2709=)
c.8118G>C (p.Gly2706=)
c.8112G>C (p.Gly2704=)
c.8034G>C (p.Gly2678=)
c.7950G>C (p.Gly2650=)
n.353-6760C>G
c.8013G>C (p.Gly2671=)
c.3273G>C (p.Gly1091=)
n.392-6760C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489169G=CA1329242232ASIC4-AS1,SPEGc.8265G= (p.Gly2755=)
n.7508G=
c.7983G= (p.Gly2661=)
c.5889G= (p.Gly1963=)
c.5718G= (p.Gly1906=)
c.5904G= (p.Gly1968=)
c.7953G= (p.Gly2651=)
c.8295G= (p.Gly2765=)
c.8127G= (p.Gly2709=)
c.8118G= (p.Gly2706=)
c.8112G= (p.Gly2704=)
c.8034G= (p.Gly2678=)
c.7950G= (p.Gly2650=)
n.353-6760C=
c.8013G= (p.Gly2671=)
c.3273G= (p.Gly1091=)
n.392-6760C=
2g.219489169G>TCA431431424ASIC4-AS1,SPEGc.8265G>T (p.Gly2755=)
n.7508G>T
c.7983G>T (p.Gly2661=)
c.5889G>T (p.Gly1963=)
c.5718G>T (p.Gly1906=)
c.5904G>T (p.Gly1968=)
c.7953G>T (p.Gly2651=)
c.8295G>T (p.Gly2765=)
c.8127G>T (p.Gly2709=)
c.8118G>T (p.Gly2706=)
c.8112G>T (p.Gly2704=)
c.8034G>T (p.Gly2678=)
c.7950G>T (p.Gly2650=)
n.353-6760C>A
c.8013G>T (p.Gly2671=)
c.3273G>T (p.Gly1091=)
n.392-6760C>A
 gnomAD v4
2g.219489170C>ACA350708755ASIC4-AS1,SPEGc.8266C>A (p.Gln2756Lys)
n.7509C>A
c.7984C>A (p.Gln2662Lys)
c.5890C>A (p.Gln1964Lys)
c.5719C>A (p.Gln1907Lys)
c.5905C>A (p.Gln1969Lys)
c.7954C>A (p.Gln2652Lys)
c.8296C>A (p.Gln2766Lys)
c.8128C>A (p.Gln2710Lys)
c.8119C>A (p.Gln2707Lys)
c.8113C>A (p.Gln2705Lys)
c.8035C>A (p.Gln2679Lys)
c.7951C>A (p.Gln2651Lys)
n.353-6761G>T
c.8014C>A (p.Gln2672Lys)
c.3274C>A (p.Gln1092Lys)
n.392-6761G>T
2g.219489170C>GCA350708756ASIC4-AS1,SPEGc.8266C>G (p.Gln2756Glu)
n.7509C>G
c.7984C>G (p.Gln2662Glu)
c.5890C>G (p.Gln1964Glu)
c.5719C>G (p.Gln1907Glu)
c.5905C>G (p.Gln1969Glu)
c.7954C>G (p.Gln2652Glu)
c.8296C>G (p.Gln2766Glu)
c.8128C>G (p.Gln2710Glu)
c.8119C>G (p.Gln2707Glu)
c.8113C>G (p.Gln2705Glu)
c.8035C>G (p.Gln2679Glu)
c.7951C>G (p.Gln2651Glu)
n.353-6761G>C
c.8014C>G (p.Gln2672Glu)
c.3274C>G (p.Gln1092Glu)
n.392-6761G>C
2g.219489170C>TCA350708757ASIC4-AS1,SPEGc.8266C>T (p.Gln2756Ter)
n.7509C>T
c.7984C>T (p.Gln2662Ter)
c.5890C>T (p.Gln1964Ter)
c.5719C>T (p.Gln1907Ter)
c.5905C>T (p.Gln1969Ter)
c.7954C>T (p.Gln2652Ter)
c.8296C>T (p.Gln2766Ter)
c.8128C>T (p.Gln2710Ter)
c.8119C>T (p.Gln2707Ter)
c.8113C>T (p.Gln2705Ter)
c.8035C>T (p.Gln2679Ter)
c.7951C>T (p.Gln2651Ter)
n.353-6761G>A
c.8014C>T (p.Gln2672Ter)
c.3274C>T (p.Gln1092Ter)
n.392-6761G>A
2g.219489171A>CCA350708758ASIC4-AS1,SPEGc.8267A>C (p.Gln2756Pro)
n.7510A>C
c.7985A>C (p.Gln2662Pro)
c.5891A>C (p.Gln1964Pro)
c.5720A>C (p.Gln1907Pro)
c.5906A>C (p.Gln1969Pro)
c.7955A>C (p.Gln2652Pro)
c.8297A>C (p.Gln2766Pro)
c.8129A>C (p.Gln2710Pro)
c.8120A>C (p.Gln2707Pro)
c.8114A>C (p.Gln2705Pro)
c.8036A>C (p.Gln2679Pro)
c.7952A>C (p.Gln2651Pro)
n.353-6762T>G
c.8015A>C (p.Gln2672Pro)
c.3275A>C (p.Gln1092Pro)
n.392-6762T>G
2g.219489171A>GCA350708759ASIC4-AS1,SPEGc.8267A>G (p.Gln2756Arg)
n.7510A>G
c.7985A>G (p.Gln2662Arg)
c.5891A>G (p.Gln1964Arg)
c.5720A>G (p.Gln1907Arg)
c.5906A>G (p.Gln1969Arg)
c.7955A>G (p.Gln2652Arg)
c.8297A>G (p.Gln2766Arg)
c.8129A>G (p.Gln2710Arg)
c.8120A>G (p.Gln2707Arg)
c.8114A>G (p.Gln2705Arg)
c.8036A>G (p.Gln2679Arg)
c.7952A>G (p.Gln2651Arg)
n.353-6762T>C
c.8015A>G (p.Gln2672Arg)
c.3275A>G (p.Gln1092Arg)
n.392-6762T>C
2g.219489171A>TCA350708760ASIC4-AS1,SPEGc.8267A>T (p.Gln2756Leu)
n.7510A>T
c.7985A>T (p.Gln2662Leu)
c.5891A>T (p.Gln1964Leu)
c.5720A>T (p.Gln1907Leu)
c.5906A>T (p.Gln1969Leu)
c.7955A>T (p.Gln2652Leu)
c.8297A>T (p.Gln2766Leu)
c.8129A>T (p.Gln2710Leu)
c.8120A>T (p.Gln2707Leu)
c.8114A>T (p.Gln2705Leu)
c.8036A>T (p.Gln2679Leu)
c.7952A>T (p.Gln2651Leu)
n.353-6762T>A
c.8015A>T (p.Gln2672Leu)
c.3275A>T (p.Gln1092Leu)
n.392-6762T>A
2g.219489172G>ACA431431433ASIC4-AS1,SPEGc.8268G>A (p.Gln2756=)
n.7511G>A
c.7986G>A (p.Gln2662=)
c.5892G>A (p.Gln1964=)
c.5721G>A (p.Gln1907=)
c.5907G>A (p.Gln1969=)
c.7956G>A (p.Gln2652=)
c.8298G>A (p.Gln2766=)
c.8130G>A (p.Gln2710=)
c.8121G>A (p.Gln2707=)
c.8115G>A (p.Gln2705=)
c.8037G>A (p.Gln2679=)
c.7953G>A (p.Gln2651=)
n.353-6763C>T
c.8016G>A (p.Gln2672=)
c.3276G>A (p.Gln1092=)
n.392-6763C>T
2g.219489172G>CCA350708761ASIC4-AS1,SPEGc.8268G>C (p.Gln2756His)
n.7511G>C
c.7986G>C (p.Gln2662His)
c.5892G>C (p.Gln1964His)
c.5721G>C (p.Gln1907His)
c.5907G>C (p.Gln1969His)
c.7956G>C (p.Gln2652His)
c.8298G>C (p.Gln2766His)
c.8130G>C (p.Gln2710His)
c.8121G>C (p.Gln2707His)
c.8115G>C (p.Gln2705His)
c.8037G>C (p.Gln2679His)
c.7953G>C (p.Gln2651His)
n.353-6763C>G
c.8016G>C (p.Gln2672His)
c.3276G>C (p.Gln1092His)
n.392-6763C>G
2g.219489172G>TCA350708762ASIC4-AS1,SPEGc.8268G>T (p.Gln2756His)
n.7511G>T
c.7986G>T (p.Gln2662His)
c.5892G>T (p.Gln1964His)
c.5721G>T (p.Gln1907His)
c.5907G>T (p.Gln1969His)
c.7956G>T (p.Gln2652His)
c.8298G>T (p.Gln2766His)
c.8130G>T (p.Gln2710His)
c.8121G>T (p.Gln2707His)
c.8115G>T (p.Gln2705His)
c.8037G>T (p.Gln2679His)
c.7953G>T (p.Gln2651His)
n.353-6763C>A
c.8016G>T (p.Gln2672His)
c.3276G>T (p.Gln1092His)
n.392-6763C>A
2g.219489173G>ACA350708763ASIC4-AS1,SPEGc.8269G>A (p.Gly2757Arg)
n.7512G>A
c.7987G>A (p.Gly2663Arg)
c.5893G>A (p.Gly1965Arg)
c.5722G>A (p.Gly1908Arg)
c.5908G>A (p.Gly1970Arg)
c.7957G>A (p.Gly2653Arg)
c.8299G>A (p.Gly2767Arg)
c.8131G>A (p.Gly2711Arg)
c.8122G>A (p.Gly2708Arg)
c.8116G>A (p.Gly2706Arg)
c.8038G>A (p.Gly2680Arg)
c.7954G>A (p.Gly2652Arg)
n.353-6764C>T
c.8017G>A (p.Gly2673Arg)
c.3277G>A (p.Gly1093Arg)
n.392-6764C>T
2g.219489173G>CCA350708765ASIC4-AS1,SPEGc.8269G>C (p.Gly2757Arg)
n.7512G>C
c.7987G>C (p.Gly2663Arg)
c.5893G>C (p.Gly1965Arg)
c.5722G>C (p.Gly1908Arg)
c.5908G>C (p.Gly1970Arg)
c.7957G>C (p.Gly2653Arg)
c.8299G>C (p.Gly2767Arg)
c.8131G>C (p.Gly2711Arg)
c.8122G>C (p.Gly2708Arg)
c.8116G>C (p.Gly2706Arg)
c.8038G>C (p.Gly2680Arg)
c.7954G>C (p.Gly2652Arg)
n.353-6764C>G
c.8017G>C (p.Gly2673Arg)
c.3277G>C (p.Gly1093Arg)
n.392-6764C>G
 gnomAD v4
2g.219489173G>TCA350708764ASIC4-AS1,SPEGc.8269G>T (p.Gly2757Trp)
n.7512G>T
c.7987G>T (p.Gly2663Trp)
c.5893G>T (p.Gly1965Trp)
c.5722G>T (p.Gly1908Trp)
c.5908G>T (p.Gly1970Trp)
c.7957G>T (p.Gly2653Trp)
c.8299G>T (p.Gly2767Trp)
c.8131G>T (p.Gly2711Trp)
c.8122G>T (p.Gly2708Trp)
c.8116G>T (p.Gly2706Trp)
c.8038G>T (p.Gly2680Trp)
c.7954G>T (p.Gly2652Trp)
n.353-6764C>A
c.8017G>T (p.Gly2673Trp)
c.3277G>T (p.Gly1093Trp)
n.392-6764C>A
2g.219489174G>ACA350708766ASIC4-AS1,SPEGc.8270G>A (p.Gly2757Glu)
n.7513G>A
c.7988G>A (p.Gly2663Glu)
c.5894G>A (p.Gly1965Glu)
c.5723G>A (p.Gly1908Glu)
c.5909G>A (p.Gly1970Glu)
c.7958G>A (p.Gly2653Glu)
c.8300G>A (p.Gly2767Glu)
c.8132G>A (p.Gly2711Glu)
c.8123G>A (p.Gly2708Glu)
c.8117G>A (p.Gly2706Glu)
c.8039G>A (p.Gly2680Glu)
c.7955G>A (p.Gly2652Glu)
n.353-6765C>T
c.8018G>A (p.Gly2673Glu)
c.3278G>A (p.Gly1093Glu)
n.392-6765C>T
 gnomAD v4
2g.219489174G>CCA350708767ASIC4-AS1,SPEGc.8270G>C (p.Gly2757Ala)
n.7513G>C
c.7988G>C (p.Gly2663Ala)
c.5894G>C (p.Gly1965Ala)
c.5723G>C (p.Gly1908Ala)
c.5909G>C (p.Gly1970Ala)
c.7958G>C (p.Gly2653Ala)
c.8300G>C (p.Gly2767Ala)
c.8132G>C (p.Gly2711Ala)
c.8123G>C (p.Gly2708Ala)
c.8117G>C (p.Gly2706Ala)
c.8039G>C (p.Gly2680Ala)
c.7955G>C (p.Gly2652Ala)
n.353-6765C>G
c.8018G>C (p.Gly2673Ala)
c.3278G>C (p.Gly1093Ala)
n.392-6765C>G
2g.219489174G=CA1329242233ASIC4-AS1,SPEGc.8270G= (p.Gly2757=)
n.7513G=
c.7988G= (p.Gly2663=)
c.5894G= (p.Gly1965=)
c.5723G= (p.Gly1908=)
c.5909G= (p.Gly1970=)
c.7958G= (p.Gly2653=)
c.8300G= (p.Gly2767=)
c.8132G= (p.Gly2711=)
c.8123G= (p.Gly2708=)
c.8117G= (p.Gly2706=)
c.8039G= (p.Gly2680=)
c.7955G= (p.Gly2652=)
n.353-6765C=
c.8018G= (p.Gly2673=)
c.3278G= (p.Gly1093=)
n.392-6765C=
2g.219489174G>TCA170646ASIC4-AS1,SPEGc.8270G>T (p.Gly2757Val)
n.7513G>T
c.7988G>T (p.Gly2663Val)
c.5894G>T (p.Gly1965Val)
c.5723G>T (p.Gly1908Val)
c.5909G>T (p.Gly1970Val)
c.7958G>T (p.Gly2653Val)
c.8300G>T (p.Gly2767Val)
c.8132G>T (p.Gly2711Val)
c.8123G>T (p.Gly2708Val)
c.8117G>T (p.Gly2706Val)
c.8039G>T (p.Gly2680Val)
c.7955G>T (p.Gly2652Val)
n.353-6765C>A
c.8018G>T (p.Gly2673Val)
c.3278G>T (p.Gly1093Val)
n.392-6765C>A
 ClinVar dbSNP

Number of alleles fetched