Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611879T>A | CA376722123 | CHAT,SLC18A3 | c.1139T>A (p.Phe380Tyr) c.-69+2680T>A (n.-69+2680T>A) | |
10 | g.49611879T>C | CA376722124 | CHAT,SLC18A3 | c.1139T>C (p.Phe380Ser) c.-69+2680T>C (n.-69+2680T>C) | |
10 | g.49611879T>G | CA376722125 | CHAT,SLC18A3 | c.1139T>G (p.Phe380Cys) c.-69+2680T>G (n.-69+2680T>G) | |
10 | g.49611880C>A | CA376722126 | CHAT,SLC18A3 | c.1140C>A (p.Phe380Leu) c.-69+2681C>A (n.-69+2681C>A) | |
10 | g.49611880C>G | CA376722127 | CHAT,SLC18A3 | c.1140C>G (p.Phe380Leu) c.-69+2681C>G (n.-69+2681C>G) | |
10 | g.49611880C>T | CA469791563 | CHAT,SLC18A3 | c.1140C>T (p.Phe380=) c.-69+2681C>T (n.-69+2681C>T) | gnomAD v4 COSMIC |
10 | g.49611881G>A | CA376722130 | CHAT,SLC18A3 | c.1141G>A (p.Ala381Thr) c.-69+2682G>A (n.-69+2682G>A) | |
10 | g.49611881G>C | CA376722129 | CHAT,SLC18A3 | c.1141G>C (p.Ala381Pro) c.-69+2682G>C (n.-69+2682G>C) | dbSNP |
10 | g.49611881G= | CA1908794925 | CHAT,SLC18A3 | c.1141G= (p.Ala381=) c.-69+2682G= (n.-69+2682G=) | |
10 | g.49611881G>T | CA376722128 | CHAT,SLC18A3 | c.1141G>T (p.Ala381Ser) c.-69+2682G>T (n.-69+2682G>T) | gnomAD v4 |
10 | g.49611882del | CA645559476 | CHAT,SLC18A3 | c.1142del (p.Ala381GlyfsTer3) c.-69+2683del (n.-69+2683del) | COSMIC |
10 | g.49611882C>A | CA376722131 | CHAT,SLC18A3 | c.1142C>A (p.Ala381Glu) c.-69+2683C>A (n.-69+2683C>A) | |
10 | g.49611882C>G | CA376722132 | CHAT,SLC18A3 | c.1142C>G (p.Ala381Gly) c.-69+2683C>G (n.-69+2683C>G) | |
10 | g.49611882C>T | CA376722133 | CHAT,SLC18A3 | c.1142C>T (p.Ala381Val) c.-69+2683C>T (n.-69+2683C>T) | |
10 | g.49611883G>A | CA469791572 | CHAT,SLC18A3 | c.1143G>A (p.Ala381=) c.-69+2684G>A (n.-69+2684G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611883G>C | CA469791574 | CHAT,SLC18A3 | c.1143G>C (p.Ala381=) c.-69+2684G>C (n.-69+2684G>C) | gnomAD v4 |
10 | g.49611883G= | CA1908794930 | CHAT,SLC18A3 | c.1143G= (p.Ala381=) c.-69+2684G= (n.-69+2684G=) | |
10 | g.49611883G>T | CA5496910 | CHAT,SLC18A3 | c.1143G>T (p.Ala381=) c.-69+2684G>T (n.-69+2684G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611884C>A | CA376722134 | CHAT,SLC18A3 | c.1144C>A (p.Pro382Thr) c.-69+2685C>A (n.-69+2685C>A) | |
10 | g.49611884C>G | CA376722135 | CHAT,SLC18A3 | c.1144C>G (p.Pro382Ala) c.-69+2685C>G (n.-69+2685C>G) | |
10 | g.49611884C>T | CA376722136 | CHAT,SLC18A3 | c.1144C>T (p.Pro382Ser) c.-69+2685C>T (n.-69+2685C>T) | |
10 | g.49611885C>A | CA376722137 | CHAT,SLC18A3 | c.1145C>A (p.Pro382Gln) c.-69+2686C>A (n.-69+2686C>A) | |
10 | g.49611885C>G | CA376722139 | CHAT,SLC18A3 | c.1145C>G (p.Pro382Arg) c.-69+2686C>G (n.-69+2686C>G) | |
10 | g.49611885C>T | CA376722138 | CHAT,SLC18A3 | c.1145C>T (p.Pro382Leu) c.-69+2686C>T (n.-69+2686C>T) | gnomAD v4 COSMIC |
10 | g.49611886G>A | CA469791581 | CHAT,SLC18A3 | c.1146G>A (p.Pro382=) c.-69+2687G>A (n.-69+2687G>A) | gnomAD v4 |
10 | g.49611886G>C | CA469791578 | CHAT,SLC18A3 | c.1146G>C (p.Pro382=) c.-69+2687G>C (n.-69+2687G>C) | gnomAD v4 |
10 | g.49611886G>T | CA469791579 | CHAT,SLC18A3 | c.1146G>T (p.Pro382=) c.-69+2687G>T (n.-69+2687G>T) | gnomAD v4 |
10 | g.49611887C>A | CA376722140 | CHAT,SLC18A3 | c.1147C>A (p.Leu383Ile) c.-69+2688C>A (n.-69+2688C>A) | |
10 | g.49611887C>G | CA376722141 | CHAT,SLC18A3 | c.1147C>G (p.Leu383Val) c.-69+2688C>G (n.-69+2688C>G) | |
10 | g.49611887C>T | CA469791582 | CHAT,SLC18A3 | c.1147C>T (p.Leu383=) c.-69+2688C>T (n.-69+2688C>T) | gnomAD v4 |
10 | g.49611888T>A | CA376722142 | CHAT,SLC18A3 | c.1148T>A (p.Leu383Gln) c.-69+2689T>A (n.-69+2689T>A) | |
10 | g.49611888T>C | CA376722143 | CHAT,SLC18A3 | c.1148T>C (p.Leu383Pro) c.-69+2689T>C (n.-69+2689T>C) | |
10 | g.49611888T>G | CA376722144 | CHAT,SLC18A3 | c.1148T>G (p.Leu383Arg) c.-69+2689T>G (n.-69+2689T>G) | gnomAD v4 |
10 | g.49611889A= | CA1908794938 | CHAT,SLC18A3 | c.1149A= (p.Leu383=) c.-69+2690A= (n.-69+2690A=) | |
10 | g.49611889A>C | CA469791589 | CHAT,SLC18A3 | c.1149A>C (p.Leu383=) c.-69+2690A>C (n.-69+2690A>C) | |
10 | g.49611889A>G | CA5496911 | CHAT,SLC18A3 | c.1149A>G (p.Leu383=) c.-69+2690A>G (n.-69+2690A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611889A>T | CA469791588 | CHAT,SLC18A3 | c.1149A>T (p.Leu383=) c.-69+2690A>T (n.-69+2690A>T) | COSMIC |
10 | g.49611890G>A | CA376722145 | CHAT,SLC18A3 | c.1150G>A (p.Val384Met) c.-69+2691G>A (n.-69+2691G>A) | |
10 | g.49611890G>C | CA376722146 | CHAT,SLC18A3 | c.1150G>C (p.Val384Leu) c.-69+2691G>C (n.-69+2691G>C) | |
10 | g.49611890G= | CA1908794941 | CHAT,SLC18A3 | c.1150G= (p.Val384=) c.-69+2691G= (n.-69+2691G=) | |
10 | g.49611890G>T | CA376722147 | CHAT,SLC18A3 | c.1150G>T (p.Val384Leu) c.-69+2691G>T (n.-69+2691G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611891T>A | CA376722148 | CHAT,SLC18A3 | c.1151T>A (p.Val384Glu) c.-69+2692T>A (n.-69+2692T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611891T>C | CA376722149 | CHAT,SLC18A3 | c.1151T>C (p.Val384Ala) c.-69+2692T>C (n.-69+2692T>C) | |
10 | g.49611891T>G | CA376722150 | CHAT,SLC18A3 | c.1151T>G (p.Val384Gly) c.-69+2692T>G (n.-69+2692T>G) | |
10 | g.49611891T= | CA1908794950 | CHAT,SLC18A3 | c.1151T= (p.Val384=) c.-69+2692T= (n.-69+2692T=) | |
10 | g.49611892G>A | CA469791599 | CHAT,SLC18A3 | c.1152G>A (p.Val384=) c.-69+2693G>A (n.-69+2693G>A) | |
10 | g.49611892G>C | CA469791600 | CHAT,SLC18A3 | c.1152G>C (p.Val384=) c.-69+2693G>C (n.-69+2693G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611892G= | CA1908794957 | CHAT,SLC18A3 | c.1152G= (p.Val384=) c.-69+2693G= (n.-69+2693G=) | |
10 | g.49611892G>T | CA469791592 | CHAT,SLC18A3 | c.1152G>T (p.Val384=) c.-69+2693G>T (n.-69+2693G>T) | gnomAD v4 |
10 | g.49611893G>A | CA376722151 | CHAT,SLC18A3 | c.1153G>A (p.Val385Ile) c.-69+2694G>A (n.-69+2694G>A) | ClinVar |
10 | g.49611893G>C | CA376722153 | CHAT,SLC18A3 | c.1153G>C (p.Val385Leu) c.-69+2694G>C (n.-69+2694G>C) | |
10 | g.49611893G>T | CA376722152 | CHAT,SLC18A3 | c.1153G>T (p.Val385Phe) c.-69+2694G>T (n.-69+2694G>T) | gnomAD v4 |
10 | g.49611894T>A | CA376722154 | CHAT,SLC18A3 | c.1154T>A (p.Val385Asp) c.-69+2695T>A (n.-69+2695T>A) | |
10 | g.49611894T>C | CA376722155 | CHAT,SLC18A3 | c.1154T>C (p.Val385Ala) c.-69+2695T>C (n.-69+2695T>C) | |
10 | g.49611894T>G | CA376722156 | CHAT,SLC18A3 | c.1154T>G (p.Val385Gly) c.-69+2695T>G (n.-69+2695T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611894T= | CA1908794962 | CHAT,SLC18A3 | c.1154T= (p.Val385=) c.-69+2695T= (n.-69+2695T=) | |
10 | g.49611895C>A | CA469791615 | CHAT,SLC18A3 | c.1155C>A (p.Val385=) c.-69+2696C>A (n.-69+2696C>A) | |
10 | g.49611895C= | CA1908794967 | CHAT,SLC18A3 | c.1155C= (p.Val385=) c.-69+2696C= (n.-69+2696C=) | |
10 | g.49611895C>G | CA469791613 | CHAT,SLC18A3 | c.1155C>G (p.Val385=) c.-69+2696C>G (n.-69+2696C>G) | |
10 | g.49611895C>T | CA5496912 | CHAT,SLC18A3 | c.1155C>T (p.Val385=) c.-69+2696C>T (n.-69+2696C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611896T>A | CA376722157 | CHAT,SLC18A3 | c.1156T>A (p.Ser386Thr) c.-69+2697T>A (n.-69+2697T>A) | |
10 | g.49611896T>C | CA376722158 | CHAT,SLC18A3 | c.1156T>C (p.Ser386Pro) c.-69+2697T>C (n.-69+2697T>C) | |
10 | g.49611896T>G | CA376722159 | CHAT,SLC18A3 | c.1156T>G (p.Ser386Ala) c.-69+2697T>G (n.-69+2697T>G) | |
10 | g.49611897C>A | CA376722160 | CHAT,SLC18A3 | c.1157C>A (p.Ser386Ter) c.-69+2698C>A (n.-69+2698C>A) | |
10 | g.49611897C= | CA1908794972 | CHAT,SLC18A3 | c.1157C= (p.Ser386=) c.-69+2698C= (n.-69+2698C=) | |
10 | g.49611897C>G | CA376722161 | CHAT,SLC18A3 | c.1157C>G (p.Ser386Ter) c.-69+2698C>G (n.-69+2698C>G) | |
10 | g.49611897C>T | CA206621423 | CHAT,SLC18A3 | c.1157C>T (p.Ser386Leu) c.-69+2698C>T (n.-69+2698C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611898A>C | CA469791620 | CHAT,SLC18A3 | c.1158A>C (p.Ser386=) c.-69+2699A>C (n.-69+2699A>C) | |
10 | g.49611898A>G | CA469791621 | CHAT,SLC18A3 | c.1158A>G (p.Ser386=) c.-69+2699A>G (n.-69+2699A>G) | |
10 | g.49611898A>T | CA469791622 | CHAT,SLC18A3 | c.1158A>T (p.Ser386=) c.-69+2699A>T (n.-69+2699A>T) | |
10 | g.49611898_49611899delinsAC | CA1908794976 | CHAT,SLC18A3 | c.1158_1159delinsAC (p.Ser386=) c.-69+2699_-69+2700delinsAC (n.-69+2699_-69+2700delinsAC) | |
10 | g.49611899del | CA5496913 | CHAT,SLC18A3 | c.1159del (p.Leu387TyrfsTer8) c.-69+2700del (n.-69+2700del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611899C>A | CA376722162 | CHAT,SLC18A3 | c.1159C>A (p.Leu387Ile) c.-69+2700C>A (n.-69+2700C>A) | gnomAD v4 |
10 | g.49611899C>G | CA376722163 | CHAT,SLC18A3 | c.1159C>G (p.Leu387Val) c.-69+2700C>G (n.-69+2700C>G) | gnomAD v4 |
10 | g.49611899C>T | CA469791624 | CHAT,SLC18A3 | c.1159C>T (p.Leu387=) c.-69+2700C>T (n.-69+2700C>T) | |
10 | g.49611900T>A | CA376722166 | CHAT,SLC18A3 | c.1160T>A (p.Leu387Gln) c.-69+2701T>A (n.-69+2701T>A) | |
10 | g.49611900T>C | CA376722164 | CHAT,SLC18A3 | c.1160T>C (p.Leu387Pro) c.-69+2701T>C (n.-69+2701T>C) | gnomAD v4 |
10 | g.49611900T>G | CA376722165 | CHAT,SLC18A3 | c.1160T>G (p.Leu387Arg) c.-69+2701T>G (n.-69+2701T>G) | |
10 | g.49611901A= | CA1908794982 | CHAT,SLC18A3 | c.1161A= (p.Leu387=) c.-69+2702A= (n.-69+2702A=) | |
10 | g.49611901A>C | CA469791627 | CHAT,SLC18A3 | c.1161A>C (p.Leu387=) c.-69+2702A>C (n.-69+2702A>C) | gnomAD v4 |
10 | g.49611901A>G | CA469791628 | CHAT,SLC18A3 | c.1161A>G (p.Leu387=) c.-69+2702A>G (n.-69+2702A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611901A>T | CA469791629 | CHAT,SLC18A3 | c.1161A>T (p.Leu387=) c.-69+2702A>T (n.-69+2702A>T) | |
10 | g.49611902T>A | CA376722167 | CHAT,SLC18A3 | c.1162T>A (p.Cys388Ser) c.-69+2703T>A (n.-69+2703T>A) | |
10 | g.49611902T>C | CA376722168 | CHAT,SLC18A3 | c.1162T>C (p.Cys388Arg) c.-69+2703T>C (n.-69+2703T>C) | dbSNP |
10 | g.49611902T>G | CA376722169 | CHAT,SLC18A3 | c.1162T>G (p.Cys388Gly) c.-69+2703T>G (n.-69+2703T>G) | |
10 | g.49611902T= | CA1908794987 | CHAT,SLC18A3 | c.1162T= (p.Cys388=) c.-69+2703T= (n.-69+2703T=) | |
10 | g.49611903G>A | CA376722170 | CHAT,SLC18A3 | c.1163G>A (p.Cys388Tyr) c.-69+2704G>A (n.-69+2704G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611903G>C | CA376722171 | CHAT,SLC18A3 | c.1163G>C (p.Cys388Ser) c.-69+2704G>C (n.-69+2704G>C) | |
10 | g.49611903G= | CA1908794992 | CHAT,SLC18A3 | c.1163G= (p.Cys388=) c.-69+2704G= (n.-69+2704G=) | |
10 | g.49611903G>T | CA376722172 | CHAT,SLC18A3 | c.1163G>T (p.Cys388Phe) c.-69+2704G>T (n.-69+2704G>T) | |
10 | g.49611904C>A | CA376722173 | CHAT,SLC18A3 | c.1164C>A (p.Cys388Ter) c.-69+2705C>A (n.-69+2705C>A) | gnomAD v4 |
10 | g.49611904C= | CA1908794996 | CHAT,SLC18A3 | c.1164C= (p.Cys388=) c.-69+2705C= (n.-69+2705C=) | |
10 | g.49611904C>G | CA376722174 | CHAT,SLC18A3 | c.1164C>G (p.Cys388Trp) c.-69+2705C>G (n.-69+2705C>G) | |
10 | g.49611904C>T | CA5496914 | CHAT,SLC18A3 | c.1164C>T (p.Cys388=) c.-69+2705C>T (n.-69+2705C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611905G>A | CA376722175 | CHAT,SLC18A3 | c.1165G>A (p.Gly389Ser) c.-69+2706G>A (n.-69+2706G>A) | |
10 | g.49611905G>C | CA376722176 | CHAT,SLC18A3 | c.1165G>C (p.Gly389Arg) c.-69+2706G>C (n.-69+2706G>C) | |
10 | g.49611905G>T | CA376722177 | CHAT,SLC18A3 | c.1165G>T (p.Gly389Cys) c.-69+2706G>T (n.-69+2706G>T) | |
10 | g.49611906G>A | CA376722178 | CHAT,SLC18A3 | c.1166G>A (p.Gly389Asp) c.-69+2707G>A (n.-69+2707G>A) | gnomAD v4 |
10 | g.49611906G>C | CA376722179 | CHAT,SLC18A3 | c.1166G>C (p.Gly389Ala) c.-69+2707G>C (n.-69+2707G>C) | |
10 | g.49611906G= | CA1908794998 | CHAT,SLC18A3 | c.1166G= (p.Gly389=) c.-69+2707G= (n.-69+2707G=) | |
10 | g.49611906G>T | CA5496915 | CHAT,SLC18A3 | c.1166G>T (p.Gly389Val) c.-69+2707G>T (n.-69+2707G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611907C>A | CA469791642 | CHAT,SLC18A3 | c.1167C>A (p.Gly389=) c.-69+2708C>A (n.-69+2708C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611907C= | CA1908795001 | CHAT,SLC18A3 | c.1167C= (p.Gly389=) c.-69+2708C= (n.-69+2708C=) | |
10 | g.49611907C>G | CA469791641 | CHAT,SLC18A3 | c.1167C>G (p.Gly389=) c.-69+2708C>G (n.-69+2708C>G) | |
10 | g.49611907C>T | CA469791639 | CHAT,SLC18A3 | c.1167C>T (p.Gly389=) c.-69+2708C>T (n.-69+2708C>T) | dbSNP |
10 | g.49611908C>A | CA376722180 | CHAT,SLC18A3 | c.1168C>A (p.Leu390Ile) c.-69+2709C>A (n.-69+2709C>A) | |
10 | g.49611908C>G | CA376722181 | CHAT,SLC18A3 | c.1168C>G (p.Leu390Val) c.-69+2709C>G (n.-69+2709C>G) | |
10 | g.49611908C>T | CA376722182 | CHAT,SLC18A3 | c.1168C>T (p.Leu390Phe) c.-69+2709C>T (n.-69+2709C>T) | gnomAD v4 |
10 | g.49611909T>A | CA376722183 | CHAT,SLC18A3 | c.1169T>A (p.Leu390His) c.-69+2710T>A (n.-69+2710T>A) | |
10 | g.49611909T>C | CA376722184 | CHAT,SLC18A3 | c.1169T>C (p.Leu390Pro) c.-69+2710T>C (n.-69+2710T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611909T>G | CA376722185 | CHAT,SLC18A3 | c.1169T>G (p.Leu390Arg) c.-69+2710T>G (n.-69+2710T>G) | |
10 | g.49611909T= | CA1908795004 | CHAT,SLC18A3 | c.1169T= (p.Leu390=) c.-69+2710T= (n.-69+2710T=) | |
10 | g.49611910C>A | CA469791649 | CHAT,SLC18A3 | c.1170C>A (p.Leu390=) c.-69+2711C>A (n.-69+2711C>A) | |
10 | g.49611910C>G | CA469791654 | CHAT,SLC18A3 | c.1170C>G (p.Leu390=) c.-69+2711C>G (n.-69+2711C>G) | |
10 | g.49611910C>T | CA469791651 | CHAT,SLC18A3 | c.1170C>T (p.Leu390=) c.-69+2711C>T (n.-69+2711C>T) | |
10 | g.49611911T>A | CA376722188 | CHAT,SLC18A3 | c.1171T>A (p.Cys391Ser) c.-69+2712T>A (n.-69+2712T>A) | |
10 | g.49611911T>C | CA376722186 | CHAT,SLC18A3 | c.1171T>C (p.Cys391Arg) c.-69+2712T>C (n.-69+2712T>C) | |
10 | g.49611911T>G | CA376722187 | CHAT,SLC18A3 | c.1171T>G (p.Cys391Gly) c.-69+2712T>G (n.-69+2712T>G) | |
10 | g.49611912G>A | CA376722189 | CHAT,SLC18A3 | c.1172G>A (p.Cys391Tyr) c.-69+2713G>A (n.-69+2713G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611912G>C | CA376722190 | CHAT,SLC18A3 | c.1172G>C (p.Cys391Ser) c.-69+2713G>C (n.-69+2713G>C) | |
10 | g.49611912G= | CA1908795007 | CHAT,SLC18A3 | c.1172G= (p.Cys391=) c.-69+2713G= (n.-69+2713G=) | |
10 | g.49611912G>T | CA376722191 | CHAT,SLC18A3 | c.1172G>T (p.Cys391Phe) c.-69+2713G>T (n.-69+2713G>T) | |
10 | g.49611913T>A | CA376722192 | CHAT,SLC18A3 | c.1173T>A (p.Cys391Ter) c.-69+2714T>A (n.-69+2714T>A) | |
10 | g.49611913T>C | CA469791662 | CHAT,SLC18A3 | c.1173T>C (p.Cys391=) c.-69+2714T>C (n.-69+2714T>C) | |
10 | g.49611913T>G | CA376722193 | CHAT,SLC18A3 | c.1173T>G (p.Cys391Trp) c.-69+2714T>G (n.-69+2714T>G) | |
10 | g.49611916del | CA2609117365 | CHAT,SLC18A3 | c.1176del (p.Phe392LeufsTer3) c.-69+2717del (n.-69+2717del) | gnomAD v4 |
10 | g.49611914T>A | CA376722196 | CHAT,SLC18A3 | c.1174T>A (p.Phe392Ile) c.-69+2715T>A (n.-69+2715T>A) | |
10 | g.49611914T>C | CA376722194 | CHAT,SLC18A3 | c.1174T>C (p.Phe392Leu) c.-69+2715T>C (n.-69+2715T>C) | |
10 | g.49611914T>G | CA376722195 | CHAT,SLC18A3 | c.1174T>G (p.Phe392Val) c.-69+2715T>G (n.-69+2715T>G) | |
10 | g.49611915T>A | CA376722197 | CHAT,SLC18A3 | c.1175T>A (p.Phe392Tyr) c.-69+2716T>A (n.-69+2716T>A) | |
10 | g.49611915T>C | CA376722198 | CHAT,SLC18A3 | c.1175T>C (p.Phe392Ser) c.-69+2716T>C (n.-69+2716T>C) | |
10 | g.49611915T>G | CA376722199 | CHAT,SLC18A3 | c.1175T>G (p.Phe392Cys) c.-69+2716T>G (n.-69+2716T>G) | |
10 | g.49611916T>A | CA376722200 | CHAT,SLC18A3 | c.1176T>A (p.Phe392Leu) c.-69+2717T>A (n.-69+2717T>A) | |
10 | g.49611916T>C | CA469791673 | CHAT,SLC18A3 | c.1176T>C (p.Phe392=) c.-69+2717T>C (n.-69+2717T>C) | dbSNP |
10 | g.49611916T>G | CA376722201 | CHAT,SLC18A3 | c.1176T>G (p.Phe392Leu) c.-69+2717T>G (n.-69+2717T>G) | gnomAD v4 |
10 | g.49611916T= | CA1908795010 | CHAT,SLC18A3 | c.1176T= (p.Phe392=) c.-69+2717T= (n.-69+2717T=) | |
10 | g.49611917G>A | CA376722204 | CHAT,SLC18A3 | c.1177G>A (p.Gly393Ser) c.-69+2718G>A (n.-69+2718G>A) | |
10 | g.49611917G>C | CA376722203 | CHAT,SLC18A3 | c.1177G>C (p.Gly393Arg) c.-69+2718G>C (n.-69+2718G>C) | |
10 | g.49611917G= | CA1908795014 | CHAT,SLC18A3 | c.1177G= (p.Gly393=) c.-69+2718G= (n.-69+2718G=) | |
10 | g.49611917G>T | CA376722202 | CHAT,SLC18A3 | c.1177G>T (p.Gly393Cys) c.-69+2718G>T (n.-69+2718G>T) | dbSNP |
10 | g.49611918G>A | CA376722205 | CHAT,SLC18A3 | c.1178G>A (p.Gly393Asp) c.-69+2719G>A (n.-69+2719G>A) | |
10 | g.49611918G>C | CA376722206 | CHAT,SLC18A3 | c.1178G>C (p.Gly393Ala) c.-69+2719G>C (n.-69+2719G>C) | |
10 | g.49611918G>T | CA376722207 | CHAT,SLC18A3 | c.1178G>T (p.Gly393Val) c.-69+2719G>T (n.-69+2719G>T) | gnomAD v4 |
10 | g.49611919C>A | CA469791699 | CHAT,SLC18A3 | c.1179C>A (p.Gly393=) c.-69+2720C>A (n.-69+2720C>A) | |
10 | g.49611919C>G | CA469791693 | CHAT,SLC18A3 | c.1179C>G (p.Gly393=) c.-69+2720C>G (n.-69+2720C>G) | |
10 | g.49611919C>T | CA469791698 | CHAT,SLC18A3 | c.1179C>T (p.Gly393=) c.-69+2720C>T (n.-69+2720C>T) | |
10 | g.49611920A>C | CA376722208 | CHAT,SLC18A3 | c.1180A>C (p.Ile394Leu) c.-69+2721A>C (n.-69+2721A>C) | |
10 | g.49611920A>G | CA376722209 | CHAT,SLC18A3 | c.1180A>G (p.Ile394Val) c.-69+2721A>G (n.-69+2721A>G) | |
10 | g.49611920A>T | CA376722210 | CHAT,SLC18A3 | c.1180A>T (p.Ile394Leu) c.-69+2721A>T (n.-69+2721A>T) | |
10 | g.49611921T>A | CA376722211 | CHAT,SLC18A3 | c.1181T>A (p.Ile394Lys) c.-69+2722T>A (n.-69+2722T>A) | |
10 | g.49611921T>C | CA5496916 | CHAT,SLC18A3 | c.1181T>C (p.Ile394Thr) c.-69+2722T>C (n.-69+2722T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611921T>G | CA376722212 | CHAT,SLC18A3 | c.1181T>G (p.Ile394Arg) c.-69+2722T>G (n.-69+2722T>G) | |
10 | g.49611921T= | CA1908795017 | CHAT,SLC18A3 | c.1181T= (p.Ile394=) c.-69+2722T= (n.-69+2722T=) | |
10 | g.49611922A>C | CA469791706 | CHAT,SLC18A3 | c.1182A>C (p.Ile394=) c.-69+2723A>C (n.-69+2723A>C) | |
10 | g.49611922A>G | CA376722213 | CHAT,SLC18A3 | c.1182A>G (p.Ile394Met) c.-69+2723A>G (n.-69+2723A>G) | |
10 | g.49611922A>T | CA469791707 | CHAT,SLC18A3 | c.1182A>T (p.Ile394=) c.-69+2723A>T (n.-69+2723A>T) | |
10 | g.49611923G>A | CA376722214 | CHAT,SLC18A3 | c.1183G>A (p.Ala395Thr) c.-69+2724G>A (n.-69+2724G>A) | gnomAD v4 |
10 | g.49611923G>C | CA376722215 | CHAT,SLC18A3 | c.1183G>C (p.Ala395Pro) c.-69+2724G>C (n.-69+2724G>C) | |
10 | g.49611923G>T | CA376722216 | CHAT,SLC18A3 | c.1183G>T (p.Ala395Ser) c.-69+2724G>T (n.-69+2724G>T) | gnomAD v4 |
10 | g.49611924C>A | CA376722217 | CHAT,SLC18A3 | c.1184C>A (p.Ala395Asp) c.-69+2725C>A (n.-69+2725C>A) | |
10 | g.49611924C= | CA1908795023 | CHAT,SLC18A3 | c.1184C= (p.Ala395=) c.-69+2725C= (n.-69+2725C=) | |
10 | g.49611924C>G | CA376722218 | CHAT,SLC18A3 | c.1184C>G (p.Ala395Gly) c.-69+2725C>G (n.-69+2725C>G) | |
10 | g.49611924C>T | CA5496917 | CHAT,SLC18A3 | c.1184C>T (p.Ala395Val) c.-69+2725C>T (n.-69+2725C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611925C>A | CA469791716 | CHAT,SLC18A3 | c.1185C>A (p.Ala395=) c.-69+2726C>A (n.-69+2726C>A) | ClinVar dbSNP |
10 | g.49611925C= | CA1908795031 | CHAT,SLC18A3 | c.1185C= (p.Ala395=) c.-69+2726C= (n.-69+2726C=) | |
10 | g.49611925C>G | CA469791717 | CHAT,SLC18A3 | c.1185C>G (p.Ala395=) c.-69+2726C>G (n.-69+2726C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611925C>T | CA469791718 | CHAT,SLC18A3 | c.1185C>T (p.Ala395=) c.-69+2726C>T (n.-69+2726C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611926C>A | CA376722220 | CHAT,SLC18A3 | c.1186C>A (p.Leu396Ile) c.-69+2727C>A (n.-69+2727C>A) | |
10 | g.49611926C>G | CA376722219 | CHAT,SLC18A3 | c.1186C>G (p.Leu396Val) c.-69+2727C>G (n.-69+2727C>G) | |
10 | g.49611926C>T | CA469791719 | CHAT,SLC18A3 | c.1186C>T (p.Leu396=) c.-69+2727C>T (n.-69+2727C>T) | |
10 | g.49611927T>A | CA376722221 | CHAT,SLC18A3 | c.1187T>A (p.Leu396Gln) c.-69+2728T>A (n.-69+2728T>A) | |
10 | g.49611927T>C | CA376722222 | CHAT,SLC18A3 | c.1187T>C (p.Leu396Pro) c.-69+2728T>C (n.-69+2728T>C) | gnomAD v4 |
10 | g.49611927T>G | CA376722223 | CHAT,SLC18A3 | c.1187T>G (p.Leu396Arg) c.-69+2728T>G (n.-69+2728T>G) | |
10 | g.49611928A>C | CA469791728 | CHAT,SLC18A3 | c.1188A>C (p.Leu396=) c.-69+2729A>C (n.-69+2729A>C) | |
10 | g.49611928A>G | CA469791726 | CHAT,SLC18A3 | c.1188A>G (p.Leu396=) c.-69+2729A>G (n.-69+2729A>G) | |
10 | g.49611928A>T | CA469791729 | CHAT,SLC18A3 | c.1188A>T (p.Leu396=) c.-69+2729A>T (n.-69+2729A>T) | |
10 | g.49611929G>A | CA376722224 | CHAT,SLC18A3 | c.1189G>A (p.Val397Ile) c.-69+2730G>A (n.-69+2730G>A) | gnomAD v4 |
10 | g.49611929G>C | CA376722225 | CHAT,SLC18A3 | c.1189G>C (p.Val397Leu) c.-69+2730G>C (n.-69+2730G>C) | |
10 | g.49611929G>T | CA376722226 | CHAT,SLC18A3 | c.1189G>T (p.Val397Phe) c.-69+2730G>T (n.-69+2730G>T) | |
10 | g.49611930T>A | CA376722227 | CHAT,SLC18A3 | c.1190T>A (p.Val397Asp) c.-69+2731T>A (n.-69+2731T>A) | |
10 | g.49611930T>C | CA376722229 | CHAT,SLC18A3 | c.1190T>C (p.Val397Ala) c.-69+2731T>C (n.-69+2731T>C) | dbSNP |
10 | g.49611930T>G | CA376722228 | CHAT,SLC18A3 | c.1190T>G (p.Val397Gly) c.-69+2731T>G (n.-69+2731T>G) | |
10 | g.49611931C>A | CA469791742 | CHAT,SLC18A3 | c.1191C>A (p.Val397=) c.-69+2732C>A (n.-69+2732C>A) | gnomAD v4 |
10 | g.49611931C= | CA1908795033 | CHAT,SLC18A3 | c.1191C= (p.Val397=) c.-69+2732C= (n.-69+2732C=) | |
10 | g.49611931C>G | CA469791740 | CHAT,SLC18A3 | c.1191C>G (p.Val397=) c.-69+2732C>G (n.-69+2732C>G) | dbSNP gnomAD v4 |
10 | g.49611931C>T | CA469791734 | CHAT,SLC18A3 | c.1191C>T (p.Val397=) c.-69+2732C>T (n.-69+2732C>T) | |
10 | g.49611932G>A | CA376722230 | CHAT,SLC18A3 | c.1192G>A (p.Asp398Asn) c.-69+2733G>A (n.-69+2733G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611932G>C | CA16042222 | CHAT,SLC18A3 | c.1192G>C (p.Asp398His) c.-69+2733G>C (n.-69+2733G>C) | ClinVar dbSNP |
10 | g.49611932G= | CA1908795039 | CHAT,SLC18A3 | c.1192G= (p.Asp398=) c.-69+2733G= (n.-69+2733G=) | |
10 | g.49611932G>T | CA376722231 | CHAT,SLC18A3 | c.1192G>T (p.Asp398Tyr) c.-69+2733G>T (n.-69+2733G>T) | COSMIC |
10 | g.49611933A= | CA1908795044 | CHAT,SLC18A3 | c.1193A= (p.Asp398=) c.-69+2734A= (n.-69+2734A=) | |
10 | g.49611933A>C | CA376722232 | CHAT,SLC18A3 | c.1193A>C (p.Asp398Ala) c.-69+2734A>C (n.-69+2734A>C) | |
10 | g.49611933A>G | CA5496918 | CHAT,SLC18A3 | c.1193A>G (p.Asp398Gly) c.-69+2734A>G (n.-69+2734A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611933A>T | CA376722233 | CHAT,SLC18A3 | c.1193A>T (p.Asp398Val) c.-69+2734A>T (n.-69+2734A>T) | |
10 | g.49611934C>A | CA376722234 | CHAT,SLC18A3 | c.1194C>A (p.Asp398Glu) c.-69+2735C>A (n.-69+2735C>A) | dbSNP |
10 | g.49611934C= | CA1908795051 | CHAT,SLC18A3 | c.1194C= (p.Asp398=) c.-69+2735C= (n.-69+2735C=) | |
10 | g.49611934C>G | CA5496919 | CHAT,SLC18A3 | c.1194C>G (p.Asp398Glu) c.-69+2735C>G (n.-69+2735C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611934C>T | CA469791749 | CHAT,SLC18A3 | c.1194C>T (p.Asp398=) c.-69+2735C>T (n.-69+2735C>T) | |
10 | g.49611935A>C | CA376722235 | CHAT,SLC18A3 | c.1195A>C (p.Thr399Pro) c.-69+2736A>C (n.-69+2736A>C) | |
10 | g.49611935A>G | CA376722236 | CHAT,SLC18A3 | c.1195A>G (p.Thr399Ala) c.-69+2736A>G (n.-69+2736A>G) | |
10 | g.49611935A>T | CA376722237 | CHAT,SLC18A3 | c.1195A>T (p.Thr399Ser) c.-69+2736A>T (n.-69+2736A>T) | |
10 | g.49611936C>A | CA376722238 | CHAT,SLC18A3 | c.1196C>A (p.Thr399Lys) c.-69+2737C>A (n.-69+2737C>A) | |
10 | g.49611936C= | CA1908795055 | CHAT,SLC18A3 | c.1196C= (p.Thr399=) c.-69+2737C= (n.-69+2737C=) | |
10 | g.49611936C>G | CA5496920 | CHAT,SLC18A3 | c.1196C>G (p.Thr399Arg) c.-69+2737C>G (n.-69+2737C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611936C>T | CA376722239 | CHAT,SLC18A3 | c.1196C>T (p.Thr399Ile) c.-69+2737C>T (n.-69+2737C>T) | COSMIC |
10 | g.49611937A>C | CA469791755 | CHAT,SLC18A3 | c.1197A>C (p.Thr399=) c.-69+2738A>C (n.-69+2738A>C) | |
10 | g.49611937A>G | CA469791756 | CHAT,SLC18A3 | c.1197A>G (p.Thr399=) c.-69+2738A>G (n.-69+2738A>G) | |
10 | g.49611937A>T | CA469791757 | CHAT,SLC18A3 | c.1197A>T (p.Thr399=) c.-69+2738A>T (n.-69+2738A>T) | gnomAD v4 |
10 | g.49611938G>A | CA376722240 | CHAT,SLC18A3 | c.1198G>A (p.Ala400Thr) c.-69+2739G>A (n.-69+2739G>A) | |
10 | g.49611938G>C | CA376722242 | CHAT,SLC18A3 | c.1198G>C (p.Ala400Pro) c.-69+2739G>C (n.-69+2739G>C) | |
10 | g.49611938G>T | CA376722241 | CHAT,SLC18A3 | c.1198G>T (p.Ala400Ser) c.-69+2739G>T (n.-69+2739G>T) | |
10 | g.49611939C>A | CA376722243 | CHAT,SLC18A3 | c.1199C>A (p.Ala400Glu) c.-69+2740C>A (n.-69+2740C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611939C= | CA1908795060 | CHAT,SLC18A3 | c.1199C= (p.Ala400=) c.-69+2740C= (n.-69+2740C=) | |
10 | g.49611939C>G | CA376722244 | CHAT,SLC18A3 | c.1199C>G (p.Ala400Gly) c.-69+2740C>G (n.-69+2740C>G) | |
10 | g.49611939C>T | CA376722245 | CHAT,SLC18A3 | c.1199C>T (p.Ala400Val) c.-69+2740C>T (n.-69+2740C>T) | |
10 | g.49611940A= | CA1908795061 | CHAT,SLC18A3 | c.1200A= (p.Ala400=) c.-69+2741A= (n.-69+2741A=) | |
10 | g.49611940A>C | CA469791763 | CHAT,SLC18A3 | c.1200A>C (p.Ala400=) c.-69+2741A>C (n.-69+2741A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611940A>G | CA469791766 | CHAT,SLC18A3 | c.1200A>G (p.Ala400=) c.-69+2741A>G (n.-69+2741A>G) | gnomAD v4 |
10 | g.49611940A>T | CA469791765 | CHAT,SLC18A3 | c.1200A>T (p.Ala400=) c.-69+2741A>T (n.-69+2741A>T) | ClinVar dbSNP |
10 | g.49611941C>A | CA376722246 | CHAT,SLC18A3 | c.1201C>A (p.Leu401Met) c.-69+2742C>A (n.-69+2742C>A) | |
10 | g.49611941C>G | CA376722247 | CHAT,SLC18A3 | c.1201C>G (p.Leu401Val) c.-69+2742C>G (n.-69+2742C>G) | gnomAD v4 |
10 | g.49611941C>T | CA469791768 | CHAT,SLC18A3 | c.1201C>T (p.Leu401=) c.-69+2742C>T (n.-69+2742C>T) | |
10 | g.49611942T>A | CA376722248 | CHAT,SLC18A3 | c.1202T>A (p.Leu401Gln) c.-69+2743T>A (n.-69+2743T>A) | |
10 | g.49611942T>C | CA376722249 | CHAT,SLC18A3 | c.1202T>C (p.Leu401Pro) c.-69+2743T>C (n.-69+2743T>C) | ClinVar |
10 | g.49611942T>G | CA376722250 | CHAT,SLC18A3 | c.1202T>G (p.Leu401Arg) c.-69+2743T>G (n.-69+2743T>G) | |
10 | g.49611943G>A | CA469791775 | CHAT,SLC18A3 | c.1203G>A (p.Leu401=) c.-69+2744G>A (n.-69+2744G>A) | dbSNP |
10 | g.49611943G>C | CA469791774 | CHAT,SLC18A3 | c.1203G>C (p.Leu401=) c.-69+2744G>C (n.-69+2744G>C) | |
10 | g.49611943G= | CA1908795064 | CHAT,SLC18A3 | c.1203G= (p.Leu401=) c.-69+2744G= (n.-69+2744G=) | |
10 | g.49611943G>T | CA469791773 | CHAT,SLC18A3 | c.1203G>T (p.Leu401=) c.-69+2744G>T (n.-69+2744G>T) | gnomAD v4 |
10 | g.49611944C>A | CA376722251 | CHAT,SLC18A3 | c.1204C>A (p.Leu402Met) c.-69+2745C>A (n.-69+2745C>A) | |
10 | g.49611944C>G | CA376722252 | CHAT,SLC18A3 | c.1204C>G (p.Leu402Val) c.-69+2745C>G (n.-69+2745C>G) | |
10 | g.49611944C>T | CA469791777 | CHAT,SLC18A3 | c.1204C>T (p.Leu402=) c.-69+2745C>T (n.-69+2745C>T) | gnomAD v4 |
10 | g.49611945T>A | CA376722255 | CHAT,SLC18A3 | c.1205T>A (p.Leu402Gln) c.-69+2746T>A (n.-69+2746T>A) | |
10 | g.49611945T>C | CA376722254 | CHAT,SLC18A3 | c.1205T>C (p.Leu402Pro) c.-69+2746T>C (n.-69+2746T>C) | |
10 | g.49611945T>G | CA376722253 | CHAT,SLC18A3 | c.1205T>G (p.Leu402Arg) c.-69+2746T>G (n.-69+2746T>G) | |
10 | g.49611946G>A | CA469791782 | CHAT,SLC18A3 | c.1206G>A (p.Leu402=) c.-69+2747G>A (n.-69+2747G>A) | gnomAD v4 |
10 | g.49611946G>C | CA469791784 | CHAT,SLC18A3 | c.1206G>C (p.Leu402=) c.-69+2747G>C (n.-69+2747G>C) | |
10 | g.49611946G= | CA1908795069 | CHAT,SLC18A3 | c.1206G= (p.Leu402=) c.-69+2747G= (n.-69+2747G=) | |
10 | g.49611946G>T | CA469791785 | CHAT,SLC18A3 | c.1206G>T (p.Leu402=) c.-69+2747G>T (n.-69+2747G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611947C>A | CA5496921 | CHAT,SLC18A3 | c.1207C>A (p.Pro403Thr) c.-69+2748C>A (n.-69+2748C>A) | dbSNP ExAC gnomAD v2 |
10 | g.49611947C= | CA1908795072 | CHAT,SLC18A3 | c.1207C= (p.Pro403=) c.-69+2748C= (n.-69+2748C=) | |
10 | g.49611947C>G | CA376722256 | CHAT,SLC18A3 | c.1207C>G (p.Pro403Ala) c.-69+2748C>G (n.-69+2748C>G) | |
10 | g.49611947C>T | CA376722257 | CHAT,SLC18A3 | c.1207C>T (p.Pro403Ser) c.-69+2748C>T (n.-69+2748C>T) | gnomAD v4 |
10 | g.49611947_49611950delinsCCCA | CA1908795073 | CHAT,SLC18A3 | c.1207_1210delinsCCCA (p.Pro403=) c.-69+2748_-69+2751delinsCCCA (n.-69+2748_-69+2751delinsCCCA) | |
10 | g.49611948C>A | CA376722258 | CHAT,SLC18A3 | c.1208C>A (p.Pro403His) c.-69+2749C>A (n.-69+2749C>A) | |
10 | g.49611948C>G | CA376722259 | CHAT,SLC18A3 | c.1208C>G (p.Pro403Arg) c.-69+2749C>G (n.-69+2749C>G) | |
10 | g.49611948C>T | CA376722260 | CHAT,SLC18A3 | c.1208C>T (p.Pro403Leu) c.-69+2749C>T (n.-69+2749C>T) | |
10 | g.49611949_49611951del | CA1908795077 | CHAT,SLC18A3 | c.1209_1211del (p.Thr404del) c.-69+2750_-69+2752del (n.-69+2750_-69+2752del) | dbSNP |
10 | g.49611949C>A | CA469791790 | CHAT,SLC18A3 | c.1209C>A (p.Pro403=) c.-69+2750C>A (n.-69+2750C>A) | |
10 | g.49611949C>G | CA469791792 | CHAT,SLC18A3 | c.1209C>G (p.Pro403=) c.-69+2750C>G (n.-69+2750C>G) | |
10 | g.49611949C>T | CA469791791 | CHAT,SLC18A3 | c.1209C>T (p.Pro403=) c.-69+2750C>T (n.-69+2750C>T) | |
10 | g.49611950A= | CA1908795080 | CHAT,SLC18A3 | c.1210A= (p.Thr404=) c.-69+2751A= (n.-69+2751A=) | |
10 | g.49611950A>C | CA376722261 | CHAT,SLC18A3 | c.1210A>C (p.Thr404Pro) c.-69+2751A>C (n.-69+2751A>C) | |
10 | g.49611950A>G | CA376722262 | CHAT,SLC18A3 | c.1210A>G (p.Thr404Ala) c.-69+2751A>G (n.-69+2751A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611950A>T | CA376722263 | CHAT,SLC18A3 | c.1210A>T (p.Thr404Ser) c.-69+2751A>T (n.-69+2751A>T) | |
10 | g.49611950_49611951insTGTGT | CA1908795084 | CHAT,SLC18A3 | c.1210_1211insTGTGT (p.Thr404MetfsTer?) c.-69+2751_-69+2752insTGTGT (n.-69+2751_-69+2752insTGTGT) | dbSNP |
10 | g.49611951C>A | CA376722265 | CHAT,SLC18A3 | c.1211C>A (p.Thr404Lys) c.-69+2752C>A (n.-69+2752C>A) | gnomAD v4 |
10 | g.49611951C>G | CA376722278 | CHAT,SLC18A3 | c.1211C>G (p.Thr404Arg) c.-69+2752C>G (n.-69+2752C>G) | |
10 | g.49611951C>T | CA376722282 | CHAT,SLC18A3 | c.1211C>T (p.Thr404Met) c.-69+2752C>T (n.-69+2752C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611952G>A | CA469791797 | CHAT,SLC18A3 | c.1212G>A (p.Thr404=) c.-69+2753G>A (n.-69+2753G>A) | gnomAD v4 |
10 | g.49611952G>C | CA469791799 | CHAT,SLC18A3 | c.1212G>C (p.Thr404=) c.-69+2753G>C (n.-69+2753G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611952G= | CA1908795087 | CHAT,SLC18A3 | c.1212G= (p.Thr404=) c.-69+2753G= (n.-69+2753G=) | |
10 | g.49611952G>T | CA469791800 | CHAT,SLC18A3 | c.1212G>T (p.Thr404=) c.-69+2753G>T (n.-69+2753G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611953C>A | CA376722289 | CHAT,SLC18A3 | c.1213C>A (p.Leu405Ile) c.-69+2754C>A (n.-69+2754C>A) | gnomAD v4 |
10 | g.49611953C>G | CA376722291 | CHAT,SLC18A3 | c.1213C>G (p.Leu405Val) c.-69+2754C>G (n.-69+2754C>G) | |
10 | g.49611953C>T | CA376722286 | CHAT,SLC18A3 | c.1213C>T (p.Leu405Phe) c.-69+2754C>T (n.-69+2754C>T) | |
10 | g.49611954T>A | CA376722293 | CHAT,SLC18A3 | c.1214T>A (p.Leu405His) c.-69+2755T>A (n.-69+2755T>A) | |
10 | g.49611954T>C | CA376722296 | CHAT,SLC18A3 | c.1214T>C (p.Leu405Pro) c.-69+2755T>C (n.-69+2755T>C) | |
10 | g.49611954T>G | CA376722299 | CHAT,SLC18A3 | c.1214T>G (p.Leu405Arg) c.-69+2755T>G (n.-69+2755T>G) | |
10 | g.49611955C>A | CA469791808 | CHAT,SLC18A3 | c.1215C>A (p.Leu405=) c.-69+2756C>A (n.-69+2756C>A) | gnomAD v4 |
10 | g.49611955C= | CA1908795090 | CHAT,SLC18A3 | c.1215C= (p.Leu405=) c.-69+2756C= (n.-69+2756C=) | |
10 | g.49611955C>G | CA469791836 | CHAT,SLC18A3 | c.1215C>G (p.Leu405=) c.-69+2756C>G (n.-69+2756C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611955C>T | CA5496922 | CHAT,SLC18A3 | c.1215C>T (p.Leu405=) c.-69+2756C>T (n.-69+2756C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611956G>A | CA376722308 | CHAT,SLC18A3 | c.1216G>A (p.Ala406Thr) c.-69+2757G>A (n.-69+2757G>A) | COSMIC |
10 | g.49611956G>C | CA376722311 | CHAT,SLC18A3 | c.1216G>C (p.Ala406Pro) c.-69+2757G>C (n.-69+2757G>C) | |
10 | g.49611956G= | CA1908795092 | CHAT,SLC18A3 | c.1216G= (p.Ala406=) c.-69+2757G= (n.-69+2757G=) | |
10 | g.49611956G>T | CA376722314 | CHAT,SLC18A3 | c.1216G>T (p.Ala406Ser) c.-69+2757G>T (n.-69+2757G>T) | dbSNP |
10 | g.49611957C>A | CA376722318 | CHAT,SLC18A3 | c.1217C>A (p.Ala406Asp) c.-69+2758C>A (n.-69+2758C>A) | |
10 | g.49611957C= | CA1908795097 | CHAT,SLC18A3 | c.1217C= (p.Ala406=) c.-69+2758C= (n.-69+2758C=) | |
10 | g.49611957C>G | CA376722321 | CHAT,SLC18A3 | c.1217C>G (p.Ala406Gly) c.-69+2758C>G (n.-69+2758C>G) | |
10 | g.49611957C>T | CA5496923 | CHAT,SLC18A3 | c.1217C>T (p.Ala406Val) c.-69+2758C>T (n.-69+2758C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611958C>A | CA469791845 | CHAT,SLC18A3 | c.1218C>A (p.Ala406=) c.-69+2759C>A (n.-69+2759C>A) | |
10 | g.49611958C>G | CA469791843 | CHAT,SLC18A3 | c.1218C>G (p.Ala406=) c.-69+2759C>G (n.-69+2759C>G) | |
10 | g.49611958C>T | CA469791844 | CHAT,SLC18A3 | c.1218C>T (p.Ala406=) c.-69+2759C>T (n.-69+2759C>T) | gnomAD v4 |
10 | g.49611959T>A | CA376722327 | CHAT,SLC18A3 | c.1219T>A (p.Phe407Ile) c.-69+2760T>A (n.-69+2760T>A) | |
10 | g.49611959T>C | CA376722330 | CHAT,SLC18A3 | c.1219T>C (p.Phe407Leu) c.-69+2760T>C (n.-69+2760T>C) | |
10 | g.49611959T>G | CA376722332 | CHAT,SLC18A3 | c.1219T>G (p.Phe407Val) c.-69+2760T>G (n.-69+2760T>G) | |
10 | g.49611960T>A | CA376722340 | CHAT,SLC18A3 | c.1220T>A (p.Phe407Tyr) c.-69+2761T>A (n.-69+2761T>A) | |
10 | g.49611960T>C | CA376722338 | CHAT,SLC18A3 | c.1220T>C (p.Phe407Ser) c.-69+2761T>C (n.-69+2761T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611960T>G | CA376722336 | CHAT,SLC18A3 | c.1220T>G (p.Phe407Cys) c.-69+2761T>G (n.-69+2761T>G) | |
10 | g.49611960T= | CA1908795104 | CHAT,SLC18A3 | c.1220T= (p.Phe407=) c.-69+2761T= (n.-69+2761T=) | |
10 | g.49611961C>A | CA376722343 | CHAT,SLC18A3 | c.1221C>A (p.Phe407Leu) c.-69+2762C>A (n.-69+2762C>A) | |
10 | g.49611961C= | CA1908795110 | CHAT,SLC18A3 | c.1221C= (p.Phe407=) c.-69+2762C= (n.-69+2762C=) | |
10 | g.49611961C>G | CA376722346 | CHAT,SLC18A3 | c.1221C>G (p.Phe407Leu) c.-69+2762C>G (n.-69+2762C>G) | |
10 | g.49611961C>T | CA469791846 | CHAT,SLC18A3 | c.1221C>T (p.Phe407=) c.-69+2762C>T (n.-69+2762C>T) | dbSNP gnomAD v4 COSMIC |
10 | g.49611962C>A | CA376722348 | CHAT,SLC18A3 | c.1222C>A (p.Leu408Met) c.-69+2763C>A (n.-69+2763C>A) | |
10 | g.49611962C>G | CA376722352 | CHAT,SLC18A3 | c.1222C>G (p.Leu408Val) c.-69+2763C>G (n.-69+2763C>G) | |
10 | g.49611962C>T | CA469791850 | CHAT,SLC18A3 | c.1222C>T (p.Leu408=) c.-69+2763C>T (n.-69+2763C>T) | |
10 | g.49611963T>A | CA376722357 | CHAT,SLC18A3 | c.1223T>A (p.Leu408Gln) c.-69+2764T>A (n.-69+2764T>A) | |
10 | g.49611963T>C | CA376722359 | CHAT,SLC18A3 | c.1223T>C (p.Leu408Pro) c.-69+2764T>C (n.-69+2764T>C) | |
10 | g.49611963T>G | CA376722362 | CHAT,SLC18A3 | c.1223T>G (p.Leu408Arg) c.-69+2764T>G (n.-69+2764T>G) | |
10 | g.49611964G>A | CA469791854 | CHAT,SLC18A3 | c.1224G>A (p.Leu408=) c.-69+2765G>A (n.-69+2765G>A) | |
10 | g.49611964G>C | CA469791857 | CHAT,SLC18A3 | c.1224G>C (p.Leu408=) c.-69+2765G>C (n.-69+2765G>C) | |
10 | g.49611964G>T | CA469791856 | CHAT,SLC18A3 | c.1224G>T (p.Leu408=) c.-69+2765G>T (n.-69+2765G>T) | |
10 | g.49611965G>A | CA376722366 | CHAT,SLC18A3 | c.1225G>A (p.Val409Met) c.-69+2766G>A (n.-69+2766G>A) | |
10 | g.49611965G>C | CA376722368 | CHAT,SLC18A3 | c.1225G>C (p.Val409Leu) c.-69+2766G>C (n.-69+2766G>C) | |
10 | g.49611965G>T | CA376722371 | CHAT,SLC18A3 | c.1225G>T (p.Val409Leu) c.-69+2766G>T (n.-69+2766G>T) | |
10 | g.49611966T>A | CA376722376 | CHAT,SLC18A3 | c.1226T>A (p.Val409Glu) c.-69+2767T>A (n.-69+2767T>A) | |
10 | g.49611966T>C | CA376722379 | CHAT,SLC18A3 | c.1226T>C (p.Val409Ala) c.-69+2767T>C (n.-69+2767T>C) | |
10 | g.49611966T>G | CA376722381 | CHAT,SLC18A3 | c.1226T>G (p.Val409Gly) c.-69+2767T>G (n.-69+2767T>G) | |
10 | g.49611967G>A | CA469791867 | CHAT,SLC18A3 | c.1227G>A (p.Val409=) c.-69+2768G>A (n.-69+2768G>A) | |
10 | g.49611967G>C | CA469791865 | CHAT,SLC18A3 | c.1227G>C (p.Val409=) c.-69+2768G>C (n.-69+2768G>C) | |
10 | g.49611967G>T | CA469791864 | CHAT,SLC18A3 | c.1227G>T (p.Val409=) c.-69+2768G>T (n.-69+2768G>T) | |
10 | g.49611968G>A | CA206621449 | CHAT,SLC18A3 | c.1228G>A (p.Asp410Asn) c.-69+2769G>A (n.-69+2769G>A) | dbSNP |
10 | g.49611968G>C | CA376722393 | CHAT,SLC18A3 | c.1228G>C (p.Asp410His) c.-69+2769G>C (n.-69+2769G>C) | |
10 | g.49611968G= | CA1908795114 | CHAT,SLC18A3 | c.1228G= (p.Asp410=) c.-69+2769G= (n.-69+2769G=) | |
10 | g.49611968G>T | CA376722390 | CHAT,SLC18A3 | c.1228G>T (p.Asp410Tyr) c.-69+2769G>T (n.-69+2769G>T) | |
10 | g.49611969A>C | CA376722396 | CHAT,SLC18A3 | c.1229A>C (p.Asp410Ala) c.-69+2770A>C (n.-69+2770A>C) | |
10 | g.49611969A>G | CA376722397 | CHAT,SLC18A3 | c.1229A>G (p.Asp410Gly) c.-69+2770A>G (n.-69+2770A>G) | |
10 | g.49611969A>T | CA376722400 | CHAT,SLC18A3 | c.1229A>T (p.Asp410Val) c.-69+2770A>T (n.-69+2770A>T) | |
10 | g.49611970C>A | CA376722403 | CHAT,SLC18A3 | c.1230C>A (p.Asp410Glu) c.-69+2771C>A (n.-69+2771C>A) | gnomAD v4 |
10 | g.49611970C= | CA1908795116 | CHAT,SLC18A3 | c.1230C= (p.Asp410=) c.-69+2771C= (n.-69+2771C=) | |
10 | g.49611970C>G | CA376722406 | CHAT,SLC18A3 | c.1230C>G (p.Asp410Glu) c.-69+2771C>G (n.-69+2771C>G) | |
10 | g.49611970C>T | CA469791870 | CHAT,SLC18A3 | c.1230C>T (p.Asp410=) c.-69+2771C>T (n.-69+2771C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611971G>A | CA376722410 | CHAT,SLC18A3 | c.1231G>A (p.Val411Met) c.-69+2772G>A (n.-69+2772G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611971G>C | CA376722413 | CHAT,SLC18A3 | c.1231G>C (p.Val411Leu) c.-69+2772G>C (n.-69+2772G>C) | |
10 | g.49611971G= | CA1908795118 | CHAT,SLC18A3 | c.1231G= (p.Val411=) c.-69+2772G= (n.-69+2772G=) | |
10 | g.49611971G>T | CA376722415 | CHAT,SLC18A3 | c.1231G>T (p.Val411Leu) c.-69+2772G>T (n.-69+2772G>T) | gnomAD v4 |
10 | g.49611972T>A | CA376722420 | CHAT,SLC18A3 | c.1232T>A (p.Val411Glu) c.-69+2773T>A (n.-69+2773T>A) | |
10 | g.49611972T>C | CA206621453 | CHAT,SLC18A3 | c.1232T>C (p.Val411Ala) c.-69+2773T>C (n.-69+2773T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611972T>G | CA376722424 | CHAT,SLC18A3 | c.1232T>G (p.Val411Gly) c.-69+2773T>G (n.-69+2773T>G) | |
10 | g.49611972T= | CA1908795122 | CHAT,SLC18A3 | c.1232T= (p.Val411=) c.-69+2773T= (n.-69+2773T=) | |
10 | g.49611973G>A | CA469791882 | CHAT,SLC18A3 | c.1233G>A (p.Val411=) c.-69+2774G>A (n.-69+2774G>A) | |
10 | g.49611973G>C | CA469791879 | CHAT,SLC18A3 | c.1233G>C (p.Val411=) c.-69+2774G>C (n.-69+2774G>C) | |
10 | g.49611973G>T | CA469791881 | CHAT,SLC18A3 | c.1233G>T (p.Val411=) c.-69+2774G>T (n.-69+2774G>T) | |
10 | g.49611974C>A | CA5496924 | CHAT,SLC18A3 | c.1234C>A (p.Arg412Ser) c.-69+2775C>A (n.-69+2775C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611974C= | CA1908795125 | CHAT,SLC18A3 | c.1234C= (p.Arg412=) c.-69+2775C= (n.-69+2775C=) | |
10 | g.49611974C>G | CA376722428 | CHAT,SLC18A3 | c.1234C>G (p.Arg412Gly) c.-69+2775C>G (n.-69+2775C>G) | |
10 | g.49611974C>T | CA376722430 | CHAT,SLC18A3 | c.1234C>T (p.Arg412Cys) c.-69+2775C>T (n.-69+2775C>T) | dbSNP gnomAD v2 |
10 | g.49611975G>A | CA5496925 | CHAT,SLC18A3 | c.1235G>A (p.Arg412His) c.-69+2776G>A (n.-69+2776G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611975G>C | CA376722441 | CHAT,SLC18A3 | c.1235G>C (p.Arg412Pro) c.-69+2776G>C (n.-69+2776G>C) | |
10 | g.49611975G= | CA1908795130 | CHAT,SLC18A3 | c.1235G= (p.Arg412=) c.-69+2776G= (n.-69+2776G=) | |
10 | g.49611975G>T | CA376722438 | CHAT,SLC18A3 | c.1235G>T (p.Arg412Leu) c.-69+2776G>T (n.-69+2776G>T) | |
10 | g.49611976C>A | CA469791888 | CHAT,SLC18A3 | c.1236C>A (p.Arg412=) c.-69+2777C>A (n.-69+2777C>A) | |
10 | g.49611976C>G | CA469791891 | CHAT,SLC18A3 | c.1236C>G (p.Arg412=) c.-69+2777C>G (n.-69+2777C>G) | |
10 | g.49611976C>T | CA469791890 | CHAT,SLC18A3 | c.1236C>T (p.Arg412=) c.-69+2777C>T (n.-69+2777C>T) | COSMIC |
10 | g.49611977C>A | CA376722446 | CHAT,SLC18A3 | c.1237C>A (p.His413Asn) c.-69+2778C>A (n.-69+2778C>A) | gnomAD v4 |
10 | g.49611977C>G | CA376722448 | CHAT,SLC18A3 | c.1237C>G (p.His413Asp) c.-69+2778C>G (n.-69+2778C>G) | |
10 | g.49611977C>T | CA376722453 | CHAT,SLC18A3 | c.1237C>T (p.His413Tyr) c.-69+2778C>T (n.-69+2778C>T) | |
10 | g.49611978A>C | CA376722458 | CHAT,SLC18A3 | c.1238A>C (p.His413Pro) c.-69+2779A>C (n.-69+2779A>C) | |
10 | g.49611978A>G | CA376722460 | CHAT,SLC18A3 | c.1238A>G (p.His413Arg) c.-69+2779A>G (n.-69+2779A>G) | |
10 | g.49611978A>T | CA376722463 | CHAT,SLC18A3 | c.1238A>T (p.His413Leu) c.-69+2779A>T (n.-69+2779A>T) | |
10 | g.49611979T>A | CA376722467 | CHAT,SLC18A3 | c.1239T>A (p.His413Gln) c.-69+2780T>A (n.-69+2780T>A) | |
10 | g.49611979T>C | CA469791898 | CHAT,SLC18A3 | c.1239T>C (p.His413=) c.-69+2780T>C (n.-69+2780T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611979T>G | CA376722470 | CHAT,SLC18A3 | c.1239T>G (p.His413Gln) c.-69+2780T>G (n.-69+2780T>G) | |
10 | g.49611979T= | CA1908795133 | CHAT,SLC18A3 | c.1239T= (p.His413=) c.-69+2780T= (n.-69+2780T=) |