Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2661948_2661949del | CA029484 | KCNQ1,KCNQ1OT1 | c.1037-13_1037-12del (n.1037-13_1037-12del) c.854-13_854-12del (n.854-13_854-12del) c.1394-13_1394-12del (n.1394-13_1394-12del) c.1013-13_1013-12del (n.1013-13_1013-12del) c.500-13_500-12del (n.500-13_500-12del) n.38053_38054del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661947C>A | CA472236179 | KCNQ1,KCNQ1OT1 | c.1037-14C>A (n.1037-14C>A) c.854-14C>A (n.854-14C>A) c.1394-14C>A (n.1394-14C>A) c.1013-14C>A (n.1013-14C>A) c.500-14C>A (n.500-14C>A) n.38052G>T | |
11 | g.2661947C= | CA1948247489 | KCNQ1,KCNQ1OT1 | c.1037-14C= (n.1037-14C=) c.854-14C= (n.854-14C=) c.1394-14C= (n.1394-14C=) c.1013-14C= (n.1013-14C=) c.500-14C= (n.500-14C=) n.38052G= | |
11 | g.2661947C>G | CA472236181 | KCNQ1,KCNQ1OT1 | c.1037-14C>G (n.1037-14C>G) c.854-14C>G (n.854-14C>G) c.1394-14C>G (n.1394-14C>G) c.1013-14C>G (n.1013-14C>G) c.500-14C>G (n.500-14C>G) n.38052G>C | |
11 | g.2661947C>T | CA005722 | KCNQ1,KCNQ1OT1 | c.1037-14C>T (n.1037-14C>T) c.854-14C>T (n.854-14C>T) c.1394-14C>T (n.1394-14C>T) c.1013-14C>T (n.1013-14C>T) c.500-14C>T (n.500-14C>T) n.38052G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661948A= | CA1948247495 | KCNQ1,KCNQ1OT1 | c.1037-13A= (n.1037-13A=) c.854-13A= (n.854-13A=) c.1394-13A= (n.1394-13A=) c.1013-13A= (n.1013-13A=) c.500-13A= (n.500-13A=) n.38051T= | |
11 | g.2661948A>C | CA029418 | KCNQ1,KCNQ1OT1 | c.1037-13A>C (n.1037-13A>C) c.854-13A>C (n.854-13A>C) c.1394-13A>C (n.1394-13A>C) c.1013-13A>C (n.1013-13A>C) c.500-13A>C (n.500-13A>C) n.38051T>G | dbSNP ExAC gnomAD v4 |
11 | g.2661948A>G | CA029430 | KCNQ1,KCNQ1OT1 | c.1037-13A>G (n.1037-13A>G) c.854-13A>G (n.854-13A>G) c.1394-13A>G (n.1394-13A>G) c.1013-13A>G (n.1013-13A>G) c.500-13A>G (n.500-13A>G) n.38051T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2661948A>T | CA472236182 | KCNQ1,KCNQ1OT1 | c.1037-13A>T (n.1037-13A>T) c.854-13A>T (n.854-13A>T) c.1394-13A>T (n.1394-13A>T) c.1013-13A>T (n.1013-13A>T) c.500-13A>T (n.500-13A>T) n.38051T>A | |
11 | g.2661949C>A | CA472236185 | KCNQ1,KCNQ1OT1 | c.1037-12C>A (n.1037-12C>A) c.854-12C>A (n.854-12C>A) c.1394-12C>A (n.1394-12C>A) c.1013-12C>A (n.1013-12C>A) c.500-12C>A (n.500-12C>A) n.38050G>T | |
11 | g.2661949C>G | CA472236183 | KCNQ1,KCNQ1OT1 | c.1037-12C>G (n.1037-12C>G) c.854-12C>G (n.854-12C>G) c.1394-12C>G (n.1394-12C>G) c.1013-12C>G (n.1013-12C>G) c.500-12C>G (n.500-12C>G) n.38050G>C | gnomAD v4 |
11 | g.2661949C>T | CA472236184 | KCNQ1,KCNQ1OT1 | c.1037-12C>T (n.1037-12C>T) c.854-12C>T (n.854-12C>T) c.1394-12C>T (n.1394-12C>T) c.1013-12C>T (n.1013-12C>T) c.500-12C>T (n.500-12C>T) n.38050G>A | ClinVar |
11 | g.2661950T>A | CA472236186 | KCNQ1,KCNQ1OT1 | c.1037-11T>A (n.1037-11T>A) c.854-11T>A (n.854-11T>A) c.1394-11T>A (n.1394-11T>A) c.1013-11T>A (n.1013-11T>A) c.500-11T>A (n.500-11T>A) n.38049A>T | |
11 | g.2661950T>C | CA472236188 | KCNQ1,KCNQ1OT1 | c.1037-11T>C (n.1037-11T>C) c.854-11T>C (n.854-11T>C) c.1394-11T>C (n.1394-11T>C) c.1013-11T>C (n.1013-11T>C) c.500-11T>C (n.500-11T>C) n.38049A>G | dbSNP gnomAD v4 |
11 | g.2661950T>G | CA472236187 | KCNQ1,KCNQ1OT1 | c.1037-11T>G (n.1037-11T>G) c.854-11T>G (n.854-11T>G) c.1394-11T>G (n.1394-11T>G) c.1013-11T>G (n.1013-11T>G) c.500-11T>G (n.500-11T>G) n.38049A>C | |
11 | g.2661950T= | CA1948247497 | KCNQ1,KCNQ1OT1 | c.1037-11T= (n.1037-11T=) c.854-11T= (n.854-11T=) c.1394-11T= (n.1394-11T=) c.1013-11T= (n.1013-11T=) c.500-11T= (n.500-11T=) n.38049A= | |
11 | g.2661951T>A | CA472236190 | KCNQ1,KCNQ1OT1 | c.1037-10T>A (n.1037-10T>A) c.854-10T>A (n.854-10T>A) c.1394-10T>A (n.1394-10T>A) c.1013-10T>A (n.1013-10T>A) c.500-10T>A (n.500-10T>A) n.38048A>T | |
11 | g.2661951T>C | CA472236191 | KCNQ1,KCNQ1OT1 | c.1037-10T>C (n.1037-10T>C) c.854-10T>C (n.854-10T>C) c.1394-10T>C (n.1394-10T>C) c.1013-10T>C (n.1013-10T>C) c.500-10T>C (n.500-10T>C) n.38048A>G | |
11 | g.2661951T>G | CA472236193 | KCNQ1,KCNQ1OT1 | c.1037-10T>G (n.1037-10T>G) c.854-10T>G (n.854-10T>G) c.1394-10T>G (n.1394-10T>G) c.1013-10T>G (n.1013-10T>G) c.500-10T>G (n.500-10T>G) n.38048A>C | |
11 | g.2661952T>A | CA472236195 | KCNQ1,KCNQ1OT1 | c.1037-9T>A (n.1037-9T>A) c.854-9T>A (n.854-9T>A) c.1394-9T>A (n.1394-9T>A) c.1013-9T>A (n.1013-9T>A) c.500-9T>A (n.500-9T>A) n.38047A>T | |
11 | g.2661952T>C | CA472236196 | KCNQ1,KCNQ1OT1 | c.1037-9T>C (n.1037-9T>C) c.854-9T>C (n.854-9T>C) c.1394-9T>C (n.1394-9T>C) c.1013-9T>C (n.1013-9T>C) c.500-9T>C (n.500-9T>C) n.38047A>G | ClinVar gnomAD v4 |
11 | g.2661952T>G | CA472236197 | KCNQ1,KCNQ1OT1 | c.1037-9T>G (n.1037-9T>G) c.854-9T>G (n.854-9T>G) c.1394-9T>G (n.1394-9T>G) c.1013-9T>G (n.1013-9T>G) c.500-9T>G (n.500-9T>G) n.38047A>C | |
11 | g.2661953C>A | CA005740 | KCNQ1,KCNQ1OT1 | c.1037-8C>A (n.1037-8C>A) c.854-8C>A (n.854-8C>A) c.1394-8C>A (n.1394-8C>A) c.1013-8C>A (n.1013-8C>A) c.500-8C>A (n.500-8C>A) n.38046G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661953C= | CA1948247509 | KCNQ1,KCNQ1OT1 | c.1037-8C= (n.1037-8C=) c.854-8C= (n.854-8C=) c.1394-8C= (n.1394-8C=) c.1013-8C= (n.1013-8C=) c.500-8C= (n.500-8C=) n.38046G= | |
11 | g.2661953C>G | CA472236198 | KCNQ1,KCNQ1OT1 | c.1037-8C>G (n.1037-8C>G) c.854-8C>G (n.854-8C>G) c.1394-8C>G (n.1394-8C>G) c.1013-8C>G (n.1013-8C>G) c.500-8C>G (n.500-8C>G) n.38046G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661953C>T | CA005747 | KCNQ1,KCNQ1OT1 | c.1037-8C>T (n.1037-8C>T) c.854-8C>T (n.854-8C>T) c.1394-8C>T (n.1394-8C>T) c.1013-8C>T (n.1013-8C>T) c.500-8C>T (n.500-8C>T) n.38046G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661954T>A | CA472236199 | KCNQ1,KCNQ1OT1 | c.1037-7T>A (n.1037-7T>A) c.854-7T>A (n.854-7T>A) c.1394-7T>A (n.1394-7T>A) c.1013-7T>A (n.1013-7T>A) c.500-7T>A (n.500-7T>A) n.38045A>T | |
11 | g.2661954T>C | CA472236203 | KCNQ1,KCNQ1OT1 | c.1037-7T>C (n.1037-7T>C) c.854-7T>C (n.854-7T>C) c.1394-7T>C (n.1394-7T>C) c.1013-7T>C (n.1013-7T>C) c.500-7T>C (n.500-7T>C) n.38045A>G | |
11 | g.2661954T>G | CA472236201 | KCNQ1,KCNQ1OT1 | c.1037-7T>G (n.1037-7T>G) c.854-7T>G (n.854-7T>G) c.1394-7T>G (n.1394-7T>G) c.1013-7T>G (n.1013-7T>G) c.500-7T>G (n.500-7T>G) n.38045A>C | |
11 | g.2661955C>A | CA029792 | KCNQ1,KCNQ1OT1 | c.1037-6C>A (n.1037-6C>A) c.854-6C>A (n.854-6C>A) c.1394-6C>A (n.1394-6C>A) c.1013-6C>A (n.1013-6C>A) c.500-6C>A (n.500-6C>A) n.38044G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661955C= | CA1948247517 | KCNQ1,KCNQ1OT1 | c.1037-6C= (n.1037-6C=) c.854-6C= (n.854-6C=) c.1394-6C= (n.1394-6C=) c.1013-6C= (n.1013-6C=) c.500-6C= (n.500-6C=) n.38044G= | |
11 | g.2661955C>G | CA472236208 | KCNQ1,KCNQ1OT1 | c.1037-6C>G (n.1037-6C>G) c.854-6C>G (n.854-6C>G) c.1394-6C>G (n.1394-6C>G) c.1013-6C>G (n.1013-6C>G) c.500-6C>G (n.500-6C>G) n.38044G>C | gnomAD v4 |
11 | g.2661955C>T | CA005733 | KCNQ1,KCNQ1OT1 | c.1037-6C>T (n.1037-6C>T) c.854-6C>T (n.854-6C>T) c.1394-6C>T (n.1394-6C>T) c.1013-6C>T (n.1013-6C>T) c.500-6C>T (n.500-6C>T) n.38044G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661956C>A | CA472236209 | KCNQ1,KCNQ1OT1 | c.1037-5C>A (n.1037-5C>A) c.854-5C>A (n.854-5C>A) c.1394-5C>A (n.1394-5C>A) c.1013-5C>A (n.1013-5C>A) c.500-5C>A (n.500-5C>A) n.38043G>T | |
11 | g.2661956C>G | CA472236211 | KCNQ1,KCNQ1OT1 | c.1037-5C>G (n.1037-5C>G) c.854-5C>G (n.854-5C>G) c.1394-5C>G (n.1394-5C>G) c.1013-5C>G (n.1013-5C>G) c.500-5C>G (n.500-5C>G) n.38043G>C | |
11 | g.2661956C>T | CA472236212 | KCNQ1,KCNQ1OT1 | c.1037-5C>T (n.1037-5C>T) c.854-5C>T (n.854-5C>T) c.1394-5C>T (n.1394-5C>T) c.1013-5C>T (n.1013-5C>T) c.500-5C>T (n.500-5C>T) n.38043G>A | |
11 | g.2661957T>A | CA472236213 | KCNQ1,KCNQ1OT1 | c.1037-4T>A (n.1037-4T>A) c.854-4T>A (n.854-4T>A) c.1394-4T>A (n.1394-4T>A) c.1013-4T>A (n.1013-4T>A) c.500-4T>A (n.500-4T>A) n.38042A>T | |
11 | g.2661957T>C | CA472236214 | KCNQ1,KCNQ1OT1 | c.1037-4T>C (n.1037-4T>C) c.854-4T>C (n.854-4T>C) c.1394-4T>C (n.1394-4T>C) c.1013-4T>C (n.1013-4T>C) c.500-4T>C (n.500-4T>C) n.38042A>G | gnomAD v4 |
11 | g.2661957T>G | CA472236215 | KCNQ1,KCNQ1OT1 | c.1037-4T>G (n.1037-4T>G) c.854-4T>G (n.854-4T>G) c.1394-4T>G (n.1394-4T>G) c.1013-4T>G (n.1013-4T>G) c.500-4T>G (n.500-4T>G) n.38042A>C | |
11 | g.2661958C>A | CA472236217 | KCNQ1,KCNQ1OT1 | c.1037-3C>A (n.1037-3C>A) c.854-3C>A (n.854-3C>A) c.1394-3C>A (n.1394-3C>A) c.1013-3C>A (n.1013-3C>A) c.500-3C>A (n.500-3C>A) n.38041G>T | |
11 | g.2661958C>G | CA472236219 | KCNQ1,KCNQ1OT1 | c.1037-3C>G (n.1037-3C>G) c.854-3C>G (n.854-3C>G) c.1394-3C>G (n.1394-3C>G) c.1013-3C>G (n.1013-3C>G) c.500-3C>G (n.500-3C>G) n.38041G>C | |
11 | g.2661958C>T | CA472236221 | KCNQ1,KCNQ1OT1 | c.1037-3C>T (n.1037-3C>T) c.854-3C>T (n.854-3C>T) c.1394-3C>T (n.1394-3C>T) c.1013-3C>T (n.1013-3C>T) c.500-3C>T (n.500-3C>T) n.38041G>A | ClinVar dbSNP |
11 | g.2661959A>C | CA379479296 | KCNQ1,KCNQ1OT1 | c.1037-2A>C (n.1037-2A>C) c.854-2A>C (n.854-2A>C) c.1394-2A>C (n.1394-2A>C) c.1013-2A>C (n.1013-2A>C) c.500-2A>C (n.500-2A>C) n.38040T>G | |
11 | g.2661959A>G | CA379479298 | KCNQ1,KCNQ1OT1 | c.1037-2A>G (n.1037-2A>G) c.854-2A>G (n.854-2A>G) c.1394-2A>G (n.1394-2A>G) c.1013-2A>G (n.1013-2A>G) c.500-2A>G (n.500-2A>G) n.38040T>C | ClinVar dbSNP |
11 | g.2661959A>T | CA379479301 | KCNQ1,KCNQ1OT1 | c.1037-2A>T (n.1037-2A>T) c.854-2A>T (n.854-2A>T) c.1394-2A>T (n.1394-2A>T) c.1013-2A>T (n.1013-2A>T) c.500-2A>T (n.500-2A>T) n.38040T>A | |
11 | g.2661960G>A | CA379479306 | KCNQ1,KCNQ1OT1 | c.1037-1G>A (n.1037-1G>A) c.854-1G>A (n.854-1G>A) c.1394-1G>A (n.1394-1G>A) c.1013-1G>A (n.1013-1G>A) c.500-1G>A (n.500-1G>A) n.38039C>T | |
11 | g.2661960G>C | CA379479305 | KCNQ1,KCNQ1OT1 | c.1037-1G>C (n.1037-1G>C) c.854-1G>C (n.854-1G>C) c.1394-1G>C (n.1394-1G>C) c.1013-1G>C (n.1013-1G>C) c.500-1G>C (n.500-1G>C) n.38039C>G | ClinVar dbSNP |
11 | g.2661960G= | CA1948247532 | KCNQ1,KCNQ1OT1 | c.1037-1G= (n.1037-1G=) c.854-1G= (n.854-1G=) c.1394-1G= (n.1394-1G=) c.1013-1G= (n.1013-1G=) c.500-1G= (n.500-1G=) n.38039C= | |
11 | g.2661960G>T | CA005727 | KCNQ1,KCNQ1OT1 | c.1037-1G>T (n.1037-1G>T) c.854-1G>T (n.854-1G>T) c.1394-1G>T (n.1394-1G>T) c.1013-1G>T (n.1013-1G>T) c.500-1G>T (n.500-1G>T) n.38039C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2661961T>A | CA379479309 | KCNQ1,KCNQ1OT1 | c.1037T>A (p.Val346Glu) c.854T>A (p.Val285Glu) c.1394T>A (p.Val465Glu) c.1013T>A (p.Val338Glu) c.500T>A (p.Val167Glu) n.38038A>T | |
11 | g.2661961T>C | CA379479311 | KCNQ1,KCNQ1OT1 | c.1037T>C (p.Val346Ala) c.854T>C (p.Val285Ala) c.1394T>C (p.Val465Ala) c.1013T>C (p.Val338Ala) c.500T>C (p.Val167Ala) n.38038A>G | |
11 | g.2661961T>G | CA379479314 | KCNQ1,KCNQ1OT1 | c.1037T>G (p.Val346Gly) c.854T>G (p.Val285Gly) c.1394T>G (p.Val465Gly) c.1013T>G (p.Val338Gly) c.500T>G (p.Val167Gly) n.38038A>C | |
11 | g.2661962A>C | CA472236227 | KCNQ1,KCNQ1OT1 | c.1038A>C (p.Val346=) c.855A>C (p.Val285=) c.1395A>C (p.Val465=) c.1014A>C (p.Val338=) c.501A>C (p.Val167=) n.38037T>G | |
11 | g.2661962A>G | CA472236229 | KCNQ1,KCNQ1OT1 | c.1038A>G (p.Val346=) c.855A>G (p.Val285=) c.1395A>G (p.Val465=) c.1014A>G (p.Val338=) c.501A>G (p.Val167=) n.38037T>C | gnomAD v4 |
11 | g.2661962A>T | CA472236228 | KCNQ1,KCNQ1OT1 | c.1038A>T (p.Val346=) c.855A>T (p.Val285=) c.1395A>T (p.Val465=) c.1014A>T (p.Val338=) c.501A>T (p.Val167=) n.38037T>A | |
11 | g.2661963A>C | CA472236230 | KCNQ1,KCNQ1OT1 | c.1039A>C (p.Arg347=) c.856A>C (p.Arg286=) c.1396A>C (p.Arg466=) c.1015A>C (p.Arg339=) c.502A>C (p.Arg168=) n.38036T>G | |
11 | g.2661963A>G | CA379479316 | KCNQ1,KCNQ1OT1 | c.1039A>G (p.Arg347Gly) c.856A>G (p.Arg286Gly) c.1396A>G (p.Arg466Gly) c.1015A>G (p.Arg339Gly) c.502A>G (p.Arg168Gly) n.38036T>C | |
11 | g.2661963A>T | CA379479319 | KCNQ1,KCNQ1OT1 | c.1039A>T (p.Arg347Trp) c.856A>T (p.Arg286Trp) c.1396A>T (p.Arg466Trp) c.1015A>T (p.Arg339Trp) c.502A>T (p.Arg168Trp) n.38036T>A | |
11 | g.2661964G>A | CA379479327 | KCNQ1,KCNQ1OT1 | c.1040G>A (p.Arg347Lys) c.857G>A (p.Arg286Lys) c.1397G>A (p.Arg466Lys) c.1016G>A (p.Arg339Lys) c.503G>A (p.Arg168Lys) n.38035C>T | |
11 | g.2661964G>C | CA379479325 | KCNQ1,KCNQ1OT1 | c.1040G>C (p.Arg347Thr) c.857G>C (p.Arg286Thr) c.1397G>C (p.Arg466Thr) c.1016G>C (p.Arg339Thr) c.503G>C (p.Arg168Thr) n.38035C>G | |
11 | g.2661964G>T | CA379479322 | KCNQ1,KCNQ1OT1 | c.1040G>T (p.Arg347Met) c.857G>T (p.Arg286Met) c.1397G>T (p.Arg466Met) c.1016G>T (p.Arg339Met) c.503G>T (p.Arg168Met) n.38035C>A | |
11 | g.2661965G>A | CA029822 | KCNQ1,KCNQ1OT1 | c.1041G>A (p.Arg347=) c.858G>A (p.Arg286=) c.1398G>A (p.Arg466=) c.1017G>A (p.Arg339=) c.504G>A (p.Arg168=) n.38034C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2661965G>C | CA379479334 | KCNQ1,KCNQ1OT1 | c.1041G>C (p.Arg347Ser) c.858G>C (p.Arg286Ser) c.1398G>C (p.Arg466Ser) c.1017G>C (p.Arg339Ser) c.504G>C (p.Arg168Ser) n.38034C>G | |
11 | g.2661965G= | CA1948247538 | KCNQ1,KCNQ1OT1 | c.1041G= (p.Arg347=) c.858G= (p.Arg286=) c.1398G= (p.Arg466=) c.1017G= (p.Arg339=) c.504G= (p.Arg168=) n.38034C= | |
11 | g.2661965G>T | CA379479336 | KCNQ1,KCNQ1OT1 | c.1041G>T (p.Arg347Ser) c.858G>T (p.Arg286Ser) c.1398G>T (p.Arg466Ser) c.1017G>T (p.Arg339Ser) c.504G>T (p.Arg168Ser) n.38034C>A | |
11 | g.2661966A>C | CA379479339 | KCNQ1,KCNQ1OT1 | c.1042A>C (p.Lys348Gln) c.859A>C (p.Lys287Gln) c.1399A>C (p.Lys467Gln) c.1018A>C (p.Lys340Gln) c.505A>C (p.Lys169Gln) n.38033T>G | |
11 | g.2661966A>G | CA379479340 | KCNQ1,KCNQ1OT1 | c.1042A>G (p.Lys348Glu) c.859A>G (p.Lys287Glu) c.1399A>G (p.Lys467Glu) c.1018A>G (p.Lys340Glu) c.505A>G (p.Lys169Glu) n.38033T>C | |
11 | g.2661966A>T | CA379479341 | KCNQ1,KCNQ1OT1 | c.1042A>T (p.Lys348Ter) c.859A>T (p.Lys287Ter) c.1399A>T (p.Lys467Ter) c.1018A>T (p.Lys340Ter) c.505A>T (p.Lys169Ter) n.38033T>A | |
11 | g.2661967del | CA2612007029 | KCNQ1,KCNQ1OT1 | c.1043del (p.Lys348ArgfsTer8) c.860del (p.Lys287ArgfsTer8) c.1400del (p.Lys467ArgfsTer8) c.1019del (p.Lys340ArgfsTer8) c.506del (p.Lys169ArgfsTer8) n.38033del | gnomAD v4 |
11 | g.2661967A= | CA1948247546 | KCNQ1,KCNQ1OT1 | c.1043A= (p.Lys348=) c.860A= (p.Lys287=) c.1400A= (p.Lys467=) c.1019A= (p.Lys340=) c.506A= (p.Lys169=) n.38032T= | |
11 | g.2661967A>C | CA379479342 | KCNQ1,KCNQ1OT1 | c.1043A>C (p.Lys348Thr) c.860A>C (p.Lys287Thr) c.1400A>C (p.Lys467Thr) c.1019A>C (p.Lys340Thr) c.506A>C (p.Lys169Thr) n.38032T>G | gnomAD v4 |
11 | g.2661967A>G | CA379479346 | KCNQ1,KCNQ1OT1 | c.1043A>G (p.Lys348Arg) c.860A>G (p.Lys287Arg) c.1400A>G (p.Lys467Arg) c.1019A>G (p.Lys340Arg) c.506A>G (p.Lys169Arg) n.38032T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2661967A>T | CA379479344 | KCNQ1,KCNQ1OT1 | c.1043A>T (p.Lys348Met) c.860A>T (p.Lys287Met) c.1400A>T (p.Lys467Met) c.1019A>T (p.Lys340Met) c.506A>T (p.Lys169Met) n.38032T>A | |
11 | g.2661968G>A | CA472236244 | KCNQ1,KCNQ1OT1 | c.1044G>A (p.Lys348=) c.861G>A (p.Lys287=) c.1401G>A (p.Lys467=) c.1020G>A (p.Lys340=) c.507G>A (p.Lys169=) n.38031C>T | |
11 | g.2661968G>C | CA379479350 | KCNQ1,KCNQ1OT1 | c.1044G>C (p.Lys348Asn) c.861G>C (p.Lys287Asn) c.1401G>C (p.Lys467Asn) c.1020G>C (p.Lys340Asn) c.507G>C (p.Lys169Asn) n.38031C>G | |
11 | g.2661968G>T | CA379479351 | KCNQ1,KCNQ1OT1 | c.1044G>T (p.Lys348Asn) c.861G>T (p.Lys287Asn) c.1401G>T (p.Lys467Asn) c.1020G>T (p.Lys340Asn) c.507G>T (p.Lys169Asn) n.38031C>A | |
11 | g.2661969A= | CA1948247550 | KCNQ1,KCNQ1OT1 | c.1045A= (p.Ser349=) c.862A= (p.Ser288=) c.1402A= (p.Ser468=) c.1021A= (p.Ser341=) c.508A= (p.Ser170=) n.38030T= | |
11 | g.2661969A>C | CA379479355 | KCNQ1,KCNQ1OT1 | c.1045A>C (p.Ser349Arg) c.862A>C (p.Ser288Arg) c.1402A>C (p.Ser468Arg) c.1021A>C (p.Ser341Arg) c.508A>C (p.Ser170Arg) n.38030T>G | |
11 | g.2661969A>G | CA029853 | KCNQ1,KCNQ1OT1 | c.1045A>G (p.Ser349Gly) c.862A>G (p.Ser288Gly) c.1402A>G (p.Ser468Gly) c.1021A>G (p.Ser341Gly) c.508A>G (p.Ser170Gly) n.38030T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2661969A>T | CA379479358 | KCNQ1,KCNQ1OT1 | c.1045A>T (p.Ser349Cys) c.862A>T (p.Ser288Cys) c.1402A>T (p.Ser468Cys) c.1021A>T (p.Ser341Cys) c.508A>T (p.Ser170Cys) n.38030T>A | |
11 | g.2661970G>A | CA379479360 | KCNQ1,KCNQ1OT1 | c.1046G>A (p.Ser349Asn) c.863G>A (p.Ser288Asn) c.1403G>A (p.Ser468Asn) c.1022G>A (p.Ser341Asn) c.509G>A (p.Ser170Asn) n.38029C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2661970G>C | CA379479370 | KCNQ1,KCNQ1OT1 | c.1046G>C (p.Ser349Thr) c.863G>C (p.Ser288Thr) c.1403G>C (p.Ser468Thr) c.1022G>C (p.Ser341Thr) c.509G>C (p.Ser170Thr) n.38029C>G | |
11 | g.2661970G= | CA1948247552 | KCNQ1,KCNQ1OT1 | c.1046G= (p.Ser349=) c.863G= (p.Ser288=) c.1403G= (p.Ser468=) c.1022G= (p.Ser341=) c.509G= (p.Ser170=) n.38029C= | |
11 | g.2661970G>T | CA379479371 | KCNQ1,KCNQ1OT1 | c.1046G>T (p.Ser349Ile) c.863G>T (p.Ser288Ile) c.1403G>T (p.Ser468Ile) c.1022G>T (p.Ser341Ile) c.509G>T (p.Ser170Ile) n.38029C>A | |
11 | g.2661971C>A | CA379479372 | KCNQ1,KCNQ1OT1 | c.1047C>A (p.Ser349Arg) c.864C>A (p.Ser288Arg) c.1404C>A (p.Ser468Arg) c.1023C>A (p.Ser341Arg) c.510C>A (p.Ser170Arg) n.38028G>T | |
11 | g.2661971C= | CA1948247556 | KCNQ1,KCNQ1OT1 | c.1047C= (p.Ser349=) c.864C= (p.Ser288=) c.1404C= (p.Ser468=) c.1023C= (p.Ser341=) c.510C= (p.Ser170=) n.38028G= | |
11 | g.2661971C>G | CA379479373 | KCNQ1,KCNQ1OT1 | c.1047C>G (p.Ser349Arg) c.864C>G (p.Ser288Arg) c.1404C>G (p.Ser468Arg) c.1023C>G (p.Ser341Arg) c.510C>G (p.Ser170Arg) n.38028G>C | |
11 | g.2661971C>T | CA472236247 | KCNQ1,KCNQ1OT1 | c.1047C>T (p.Ser349=) c.864C>T (p.Ser288=) c.1404C>T (p.Ser468=) c.1023C>T (p.Ser341=) c.510C>T (p.Ser170=) n.38028G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2661972C>A | CA379479376 | KCNQ1,KCNQ1OT1 | c.1048C>A (p.Pro350Thr) c.865C>A (p.Pro289Thr) c.1405C>A (p.Pro469Thr) c.1024C>A (p.Pro342Thr) c.511C>A (p.Pro171Thr) n.38027G>T | |
11 | g.2661972C>G | CA379479380 | KCNQ1,KCNQ1OT1 | c.1048C>G (p.Pro350Ala) c.865C>G (p.Pro289Ala) c.1405C>G (p.Pro469Ala) c.1024C>G (p.Pro342Ala) c.511C>G (p.Pro171Ala) n.38027G>C | |
11 | g.2661972C>T | CA379479378 | KCNQ1,KCNQ1OT1 | c.1048C>T (p.Pro350Ser) c.865C>T (p.Pro289Ser) c.1405C>T (p.Pro469Ser) c.1024C>T (p.Pro342Ser) c.511C>T (p.Pro171Ser) n.38027G>A | ClinVar |
11 | g.2661973C>A | CA379479382 | KCNQ1,KCNQ1OT1 | c.1049C>A (p.Pro350Gln) c.866C>A (p.Pro289Gln) c.1406C>A (p.Pro469Gln) c.1025C>A (p.Pro342Gln) c.512C>A (p.Pro171Gln) n.38026G>T | |
11 | g.2661973C>G | CA379479387 | KCNQ1,KCNQ1OT1 | c.1049C>G (p.Pro350Arg) c.866C>G (p.Pro289Arg) c.1406C>G (p.Pro469Arg) c.1025C>G (p.Pro342Arg) c.512C>G (p.Pro171Arg) n.38026G>C | gnomAD v4 |
11 | g.2661973C>T | CA379479383 | KCNQ1,KCNQ1OT1 | c.1049C>T (p.Pro350Leu) c.866C>T (p.Pro289Leu) c.1406C>T (p.Pro469Leu) c.1025C>T (p.Pro342Leu) c.512C>T (p.Pro171Leu) n.38026G>A | ClinVar |
11 | g.2661974A>C | CA472236249 | KCNQ1,KCNQ1OT1 | c.1050A>C (p.Pro350=) c.867A>C (p.Pro289=) c.1407A>C (p.Pro469=) c.1026A>C (p.Pro342=) c.513A>C (p.Pro171=) n.38025T>G | |
11 | g.2661974A>G | CA472236250 | KCNQ1,KCNQ1OT1 | c.1050A>G (p.Pro350=) c.867A>G (p.Pro289=) c.1407A>G (p.Pro469=) c.1026A>G (p.Pro342=) c.513A>G (p.Pro171=) n.38025T>C | |
11 | g.2661974A>T | CA472236251 | KCNQ1,KCNQ1OT1 | c.1050A>T (p.Pro350=) c.867A>T (p.Pro289=) c.1407A>T (p.Pro469=) c.1026A>T (p.Pro342=) c.513A>T (p.Pro171=) n.38025T>A | |
11 | g.2661975A>C | CA379479389 | KCNQ1,KCNQ1OT1 | c.1051A>C (p.Thr351Pro) c.868A>C (p.Thr290Pro) c.1408A>C (p.Thr470Pro) c.1027A>C (p.Thr343Pro) c.514A>C (p.Thr172Pro) n.38024T>G | |
11 | g.2661975A>G | CA379479393 | KCNQ1,KCNQ1OT1 | c.1051A>G (p.Thr351Ala) c.868A>G (p.Thr290Ala) c.1408A>G (p.Thr470Ala) c.1027A>G (p.Thr343Ala) c.514A>G (p.Thr172Ala) n.38024T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2661975A>T | CA379479391 | KCNQ1,KCNQ1OT1 | c.1051A>T (p.Thr351Ser) c.868A>T (p.Thr290Ser) c.1408A>T (p.Thr470Ser) c.1027A>T (p.Thr343Ser) c.514A>T (p.Thr172Ser) n.38024T>A | |
11 | g.2661976C>A | CA379479394 | KCNQ1,KCNQ1OT1 | c.1052C>A (p.Thr351Lys) c.869C>A (p.Thr290Lys) c.1409C>A (p.Thr470Lys) c.1028C>A (p.Thr343Lys) c.515C>A (p.Thr172Lys) n.38023G>T | |
11 | g.2661976C= | CA1948247563 | KCNQ1,KCNQ1OT1 | c.1052C= (p.Thr351=) c.869C= (p.Thr290=) c.1409C= (p.Thr470=) c.1028C= (p.Thr343=) c.515C= (p.Thr172=) n.38023G= | |
11 | g.2661976C>G | CA379479397 | KCNQ1,KCNQ1OT1 | c.1052C>G (p.Thr351Arg) c.869C>G (p.Thr290Arg) c.1409C>G (p.Thr470Arg) c.1028C>G (p.Thr343Arg) c.515C>G (p.Thr172Arg) n.38023G>C | |
11 | g.2661976C>T | CA379479396 | KCNQ1,KCNQ1OT1 | c.1052C>T (p.Thr351Ile) c.869C>T (p.Thr290Ile) c.1409C>T (p.Thr470Ile) c.1028C>T (p.Thr343Ile) c.515C>T (p.Thr172Ile) n.38023G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2661977A>C | CA472236256 | KCNQ1,KCNQ1OT1 | c.1053A>C (p.Thr351=) c.870A>C (p.Thr290=) c.1410A>C (p.Thr470=) c.1029A>C (p.Thr343=) c.516A>C (p.Thr172=) n.38022T>G | |
11 | g.2661977A>G | CA472236253 | KCNQ1,KCNQ1OT1 | c.1053A>G (p.Thr351=) c.870A>G (p.Thr290=) c.1410A>G (p.Thr470=) c.1029A>G (p.Thr343=) c.516A>G (p.Thr172=) n.38022T>C | |
11 | g.2661977A>T | CA472236254 | KCNQ1,KCNQ1OT1 | c.1053A>T (p.Thr351=) c.870A>T (p.Thr290=) c.1410A>T (p.Thr470=) c.1029A>T (p.Thr343=) c.516A>T (p.Thr172=) n.38022T>A | |
11 | g.2661978C>A | CA379479400 | KCNQ1,KCNQ1OT1 | c.1054C>A (p.Leu352Met) c.871C>A (p.Leu291Met) c.1411C>A (p.Leu471Met) c.1030C>A (p.Leu344Met) c.517C>A (p.Leu173Met) n.38021G>T | ClinVar dbSNP |
11 | g.2661978C= | CA1948247570 | KCNQ1,KCNQ1OT1 | c.1054C= (p.Leu352=) c.871C= (p.Leu291=) c.1411C= (p.Leu471=) c.1030C= (p.Leu344=) c.517C= (p.Leu173=) n.38021G= | |
11 | g.2661978C>G | CA379479402 | KCNQ1,KCNQ1OT1 | c.1054C>G (p.Leu352Val) c.871C>G (p.Leu291Val) c.1411C>G (p.Leu471Val) c.1030C>G (p.Leu344Val) c.517C>G (p.Leu173Val) n.38021G>C | |
11 | g.2661978C>T | CA472236260 | KCNQ1,KCNQ1OT1 | c.1054C>T (p.Leu352=) c.871C>T (p.Leu291=) c.1411C>T (p.Leu471=) c.1030C>T (p.Leu344=) c.517C>T (p.Leu173=) n.38021G>A | |
11 | g.2661979T>A | CA379479403 | KCNQ1,KCNQ1OT1 | c.1055T>A (p.Leu352Gln) c.872T>A (p.Leu291Gln) c.1412T>A (p.Leu471Gln) c.1031T>A (p.Leu344Gln) c.518T>A (p.Leu173Gln) n.38020A>T | |
11 | g.2661979T>C | CA379479408 | KCNQ1,KCNQ1OT1 | c.1055T>C (p.Leu352Pro) c.872T>C (p.Leu291Pro) c.1412T>C (p.Leu471Pro) c.1031T>C (p.Leu344Pro) c.518T>C (p.Leu173Pro) n.38020A>G | dbSNP gnomAD v2 |
11 | g.2661979T>G | CA379479406 | KCNQ1,KCNQ1OT1 | c.1055T>G (p.Leu352Arg) c.872T>G (p.Leu291Arg) c.1412T>G (p.Leu471Arg) c.1031T>G (p.Leu344Arg) c.518T>G (p.Leu173Arg) n.38020A>C | gnomAD v4 |
11 | g.2661979T= | CA1948247578 | KCNQ1,KCNQ1OT1 | c.1055T= (p.Leu352=) c.872T= (p.Leu291=) c.1412T= (p.Leu471=) c.1031T= (p.Leu344=) c.518T= (p.Leu173=) n.38020A= | |
11 | g.2661980G>A | CA472236263 | KCNQ1,KCNQ1OT1 | c.1056G>A (p.Leu352=) c.873G>A (p.Leu291=) c.1413G>A (p.Leu471=) c.1032G>A (p.Leu344=) c.519G>A (p.Leu173=) n.38019C>T | dbSNP |
11 | g.2661980G>C | CA472236264 | KCNQ1,KCNQ1OT1 | c.1056G>C (p.Leu352=) c.873G>C (p.Leu291=) c.1413G>C (p.Leu471=) c.1032G>C (p.Leu344=) c.519G>C (p.Leu173=) n.38019C>G | |
11 | g.2661980G= | CA1948247582 | KCNQ1,KCNQ1OT1 | c.1056G= (p.Leu352=) c.873G= (p.Leu291=) c.1413G= (p.Leu471=) c.1032G= (p.Leu344=) c.519G= (p.Leu173=) n.38019C= | |
11 | g.2661980G>T | CA472236265 | KCNQ1,KCNQ1OT1 | c.1056G>T (p.Leu352=) c.873G>T (p.Leu291=) c.1413G>T (p.Leu471=) c.1032G>T (p.Leu344=) c.519G>T (p.Leu173=) n.38019C>A | |
11 | g.2661981C>A | CA379479409 | KCNQ1,KCNQ1OT1 | c.1057C>A (p.Leu353Met) c.874C>A (p.Leu292Met) c.1414C>A (p.Leu472Met) c.1033C>A (p.Leu345Met) c.520C>A (p.Leu174Met) n.38018G>T | |
11 | g.2661981C>G | CA379479410 | KCNQ1,KCNQ1OT1 | c.1057C>G (p.Leu353Val) c.874C>G (p.Leu292Val) c.1414C>G (p.Leu472Val) c.1033C>G (p.Leu345Val) c.520C>G (p.Leu174Val) n.38018G>C | |
11 | g.2661981C>T | CA472236267 | KCNQ1,KCNQ1OT1 | c.1057C>T (p.Leu353=) c.874C>T (p.Leu292=) c.1414C>T (p.Leu472=) c.1033C>T (p.Leu345=) c.520C>T (p.Leu174=) n.38018G>A | |
11 | g.2661982T>A | CA379479411 | KCNQ1,KCNQ1OT1 | c.1058T>A (p.Leu353Gln) c.875T>A (p.Leu292Gln) c.1415T>A (p.Leu472Gln) c.1034T>A (p.Leu345Gln) c.521T>A (p.Leu174Gln) n.38017A>T | |
11 | g.2661982T>C | CA216170727 | KCNQ1,KCNQ1OT1 | c.1058T>C (p.Leu353Pro) c.875T>C (p.Leu292Pro) c.1415T>C (p.Leu472Pro) c.1034T>C (p.Leu345Pro) c.521T>C (p.Leu174Pro) n.38017A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661982T>G | CA379479412 | KCNQ1,KCNQ1OT1 | c.1058T>G (p.Leu353Arg) c.875T>G (p.Leu292Arg) c.1415T>G (p.Leu472Arg) c.1034T>G (p.Leu345Arg) c.521T>G (p.Leu174Arg) n.38017A>C | |
11 | g.2661982T= | CA1948247587 | KCNQ1,KCNQ1OT1 | c.1058T= (p.Leu353=) c.875T= (p.Leu292=) c.1415T= (p.Leu472=) c.1034T= (p.Leu345=) c.521T= (p.Leu174=) n.38017A= | |
11 | g.2661983G>A | CA472236268 | KCNQ1,KCNQ1OT1 | c.1059G>A (p.Leu353=) c.876G>A (p.Leu292=) c.1416G>A (p.Leu472=) c.1035G>A (p.Leu345=) c.522G>A (p.Leu174=) n.38016C>T | dbSNP |
11 | g.2661983G>C | CA472236269 | KCNQ1,KCNQ1OT1 | c.1059G>C (p.Leu353=) c.876G>C (p.Leu292=) c.1416G>C (p.Leu472=) c.1035G>C (p.Leu345=) c.522G>C (p.Leu174=) n.38016C>G | |
11 | g.2661983G= | CA1948247594 | KCNQ1,KCNQ1OT1 | c.1059G= (p.Leu353=) c.876G= (p.Leu292=) c.1416G= (p.Leu472=) c.1035G= (p.Leu345=) c.522G= (p.Leu174=) n.38016C= | |
11 | g.2661983G>T | CA472236270 | KCNQ1,KCNQ1OT1 | c.1059G>T (p.Leu353=) c.876G>T (p.Leu292=) c.1416G>T (p.Leu472=) c.1035G>T (p.Leu345=) c.522G>T (p.Leu174=) n.38016C>A | |
11 | g.2661984G>A | CA379479414 | KCNQ1,KCNQ1OT1 | c.1060G>A (p.Glu354Lys) c.877G>A (p.Glu293Lys) c.1417G>A (p.Glu473Lys) c.1036G>A (p.Glu346Lys) c.523G>A (p.Glu175Lys) n.38015C>T | COSMIC |
11 | g.2661984G>C | CA029873 | KCNQ1,KCNQ1OT1 | c.1060G>C (p.Glu354Gln) c.877G>C (p.Glu293Gln) c.1417G>C (p.Glu473Gln) c.1036G>C (p.Glu346Gln) c.523G>C (p.Glu175Gln) n.38015C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2661984G= | CA1948247612 | KCNQ1,KCNQ1OT1 | c.1060G= (p.Glu354=) c.877G= (p.Glu293=) c.1417G= (p.Glu473=) c.1036G= (p.Glu346=) c.523G= (p.Glu175=) n.38015C= | |
11 | g.2661984G>T | CA379479417 | KCNQ1,KCNQ1OT1 | c.1060G>T (p.Glu354Ter) c.877G>T (p.Glu293Ter) c.1417G>T (p.Glu473Ter) c.1036G>T (p.Glu346Ter) c.523G>T (p.Glu175Ter) n.38015C>A | |
11 | g.2661985A>C | CA379479419 | KCNQ1,KCNQ1OT1 | c.1061A>C (p.Glu354Ala) c.878A>C (p.Glu293Ala) c.1418A>C (p.Glu473Ala) c.1037A>C (p.Glu346Ala) c.524A>C (p.Glu175Ala) n.38014T>G | |
11 | g.2661985A>G | CA379479422 | KCNQ1,KCNQ1OT1 | c.1061A>G (p.Glu354Gly) c.878A>G (p.Glu293Gly) c.1418A>G (p.Glu473Gly) c.1037A>G (p.Glu346Gly) c.524A>G (p.Glu175Gly) n.38014T>C | |
11 | g.2661985A>T | CA379479423 | KCNQ1,KCNQ1OT1 | c.1061A>T (p.Glu354Val) c.878A>T (p.Glu293Val) c.1418A>T (p.Glu473Val) c.1037A>T (p.Glu346Val) c.524A>T (p.Glu175Val) n.38014T>A | |
11 | g.2661986A>C | CA379479427 | KCNQ1,KCNQ1OT1 | c.1062A>C (p.Glu354Asp) c.879A>C (p.Glu293Asp) c.1419A>C (p.Glu473Asp) c.1038A>C (p.Glu346Asp) c.525A>C (p.Glu175Asp) n.38013T>G | |
11 | g.2661986A>G | CA472236277 | KCNQ1,KCNQ1OT1 | c.1062A>G (p.Glu354=) c.879A>G (p.Glu293=) c.1419A>G (p.Glu473=) c.1038A>G (p.Glu346=) c.525A>G (p.Glu175=) n.38013T>C | gnomAD v4 |
11 | g.2661986A>T | CA379479428 | KCNQ1,KCNQ1OT1 | c.1062A>T (p.Glu354Asp) c.879A>T (p.Glu293Asp) c.1419A>T (p.Glu473Asp) c.1038A>T (p.Glu346Asp) c.525A>T (p.Glu175Asp) n.38013T>A | |
11 | g.2661987G>A | CA379479430 | KCNQ1,KCNQ1OT1 | c.1063G>A (p.Val355Met) c.880G>A (p.Val294Met) c.1420G>A (p.Val474Met) c.1039G>A (p.Val347Met) c.526G>A (p.Val176Met) n.38012C>T | COSMIC COSMIC |
11 | g.2661987G>C | CA379479431 | KCNQ1,KCNQ1OT1 | c.1063G>C (p.Val355Leu) c.880G>C (p.Val294Leu) c.1420G>C (p.Val474Leu) c.1039G>C (p.Val347Leu) c.526G>C (p.Val176Leu) n.38012C>G | |
11 | g.2661987G>T | CA379479432 | KCNQ1,KCNQ1OT1 | c.1063G>T (p.Val355Leu) c.880G>T (p.Val294Leu) c.1420G>T (p.Val474Leu) c.1039G>T (p.Val347Leu) c.526G>T (p.Val176Leu) n.38012C>A | ClinVar |
11 | g.2661988T>A | CA379479435 | KCNQ1,KCNQ1OT1 | c.1064T>A (p.Val355Glu) c.881T>A (p.Val294Glu) c.1421T>A (p.Val474Glu) c.1040T>A (p.Val347Glu) c.527T>A (p.Val176Glu) n.38011A>T | |
11 | g.2661988T>C | CA379479436 | KCNQ1,KCNQ1OT1 | c.1064T>C (p.Val355Ala) c.881T>C (p.Val294Ala) c.1421T>C (p.Val474Ala) c.1040T>C (p.Val347Ala) c.527T>C (p.Val176Ala) n.38011A>G | |
11 | g.2661988T>G | CA379479438 | KCNQ1,KCNQ1OT1 | c.1064T>G (p.Val355Gly) c.881T>G (p.Val294Gly) c.1421T>G (p.Val474Gly) c.1040T>G (p.Val347Gly) c.527T>G (p.Val176Gly) n.38011A>C | |
11 | g.2661989G>A | CA472236280 | KCNQ1,KCNQ1OT1 | c.1065G>A (p.Val355=) c.882G>A (p.Val294=) c.1422G>A (p.Val474=) c.1041G>A (p.Val347=) c.528G>A (p.Val176=) n.38010C>T | dbSNP |
11 | g.2661989G>C | CA472236278 | KCNQ1,KCNQ1OT1 | c.1065G>C (p.Val355=) c.882G>C (p.Val294=) c.1422G>C (p.Val474=) c.1041G>C (p.Val347=) c.528G>C (p.Val176=) n.38010C>G | |
11 | g.2661989G= | CA1948247618 | KCNQ1,KCNQ1OT1 | c.1065G= (p.Val355=) c.882G= (p.Val294=) c.1422G= (p.Val474=) c.1041G= (p.Val347=) c.528G= (p.Val176=) n.38010C= | |
11 | g.2661989G>T | CA472236279 | KCNQ1,KCNQ1OT1 | c.1065G>T (p.Val355=) c.882G>T (p.Val294=) c.1422G>T (p.Val474=) c.1041G>T (p.Val347=) c.528G>T (p.Val176=) n.38010C>A | |
11 | g.2661990A= | CA1948247621 | KCNQ1,KCNQ1OT1 | c.1066A= (p.Ser356=) c.883A= (p.Ser295=) c.1423A= (p.Ser475=) c.1042A= (p.Ser348=) c.529A= (p.Ser177=) n.38009T= | |
11 | g.2661990A>C | CA379479448 | KCNQ1,KCNQ1OT1 | c.1066A>C (p.Ser356Arg) c.883A>C (p.Ser295Arg) c.1423A>C (p.Ser475Arg) c.1042A>C (p.Ser348Arg) c.529A>C (p.Ser177Arg) n.38009T>G | dbSNP |
11 | g.2661990A>G | CA379479440 | KCNQ1,KCNQ1OT1 | c.1066A>G (p.Ser356Gly) c.883A>G (p.Ser295Gly) c.1423A>G (p.Ser475Gly) c.1042A>G (p.Ser348Gly) c.529A>G (p.Ser177Gly) n.38009T>C | gnomAD v4 |
11 | g.2661990A>T | CA379479445 | KCNQ1,KCNQ1OT1 | c.1066A>T (p.Ser356Cys) c.883A>T (p.Ser295Cys) c.1423A>T (p.Ser475Cys) c.1042A>T (p.Ser348Cys) c.529A>T (p.Ser177Cys) n.38009T>A | |
11 | g.2661990_2661994delinsAGCAT | CA1948247620 | KCNQ1,KCNQ1OT1 | c.1066_1070delinsAGCAT (p.Ser356=) c.883_887delinsAGCAT (p.Ser295=) c.1423_1427delinsAGCAT (p.Ser475=) c.1042_1046delinsAGCAT (p.Ser348=) c.529_533delinsAGCAT (p.Ser177=) n.38005_38009delinsATGCT | |
11 | g.2661991G>A | CA379479450 | KCNQ1,KCNQ1OT1 | c.1067G>A (p.Ser356Asn) c.884G>A (p.Ser295Asn) c.1424G>A (p.Ser475Asn) c.1043G>A (p.Ser348Asn) c.530G>A (p.Ser177Asn) n.38008C>T | gnomAD v4 |
11 | g.2661991G>C | CA379479452 | KCNQ1,KCNQ1OT1 | c.1067G>C (p.Ser356Thr) c.884G>C (p.Ser295Thr) c.1424G>C (p.Ser475Thr) c.1043G>C (p.Ser348Thr) c.530G>C (p.Ser177Thr) n.38008C>G | |
11 | g.2661991G>T | CA379479454 | KCNQ1,KCNQ1OT1 | c.1067G>T (p.Ser356Ile) c.884G>T (p.Ser295Ile) c.1424G>T (p.Ser475Ile) c.1043G>T (p.Ser348Ile) c.530G>T (p.Ser177Ile) n.38008C>A | |
11 | g.2661993_2661996del | CA658683666 | KCNQ1,KCNQ1OT1 | c.1069_1072del (p.Met357ProfsTer4) c.886_889del (p.Met296ProfsTer4) c.1426_1429del (p.Met476ProfsTer4) c.1045_1048del (p.Met349ProfsTer4) c.532_535del (p.Met178ProfsTer4) n.38005_38008del | ClinVar dbSNP |
11 | g.2661992C>A | CA379479456 | KCNQ1,KCNQ1OT1 | c.1068C>A (p.Ser356Arg) c.885C>A (p.Ser295Arg) c.1425C>A (p.Ser475Arg) c.1044C>A (p.Ser348Arg) c.531C>A (p.Ser177Arg) n.38007G>T | |
11 | g.2661992C= | CA1948247632 | KCNQ1,KCNQ1OT1 | c.1068C= (p.Ser356=) c.885C= (p.Ser295=) c.1425C= (p.Ser475=) c.1044C= (p.Ser348=) c.531C= (p.Ser177=) n.38007G= | |
11 | g.2661992C>G | CA379479458 | KCNQ1,KCNQ1OT1 | c.1068C>G (p.Ser356Arg) c.885C>G (p.Ser295Arg) c.1425C>G (p.Ser475Arg) c.1044C>G (p.Ser348Arg) c.531C>G (p.Ser177Arg) n.38007G>C | |
11 | g.2661992C>T | CA029890 | KCNQ1,KCNQ1OT1 | c.1068C>T (p.Ser356=) c.885C>T (p.Ser295=) c.1425C>T (p.Ser475=) c.1044C>T (p.Ser348=) c.531C>T (p.Ser177=) n.38007G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661993A= | CA1948247638 | KCNQ1,KCNQ1OT1 | c.1069A= (p.Met357=) c.886A= (p.Met296=) c.1426A= (p.Met476=) c.1045A= (p.Met349=) c.532A= (p.Met178=) n.38006T= | |
11 | g.2661993A>C | CA379479461 | KCNQ1,KCNQ1OT1 | c.1069A>C (p.Met357Leu) c.886A>C (p.Met296Leu) c.1426A>C (p.Met476Leu) c.1045A>C (p.Met349Leu) c.532A>C (p.Met178Leu) n.38006T>G | |
11 | g.2661993A>G | CA005752 | KCNQ1,KCNQ1OT1 | c.1069A>G (p.Met357Val) c.886A>G (p.Met296Val) c.1426A>G (p.Met476Val) c.1045A>G (p.Met349Val) c.532A>G (p.Met178Val) n.38006T>C | ClinVar dbSNP gnomAD v2 |
11 | g.2661993A>T | CA379479469 | KCNQ1,KCNQ1OT1 | c.1069A>T (p.Met357Leu) c.886A>T (p.Met296Leu) c.1426A>T (p.Met476Leu) c.1045A>T (p.Met349Leu) c.532A>T (p.Met178Leu) n.38006T>A | |
11 | g.2661994T>A | CA379479475 | KCNQ1,KCNQ1OT1 | c.1070T>A (p.Met357Lys) c.887T>A (p.Met296Lys) c.1427T>A (p.Met476Lys) c.1046T>A (p.Met349Lys) c.533T>A (p.Met178Lys) n.38005A>T | |
11 | g.2661994T>C | CA029908 | KCNQ1,KCNQ1OT1 | c.1070T>C (p.Met357Thr) c.887T>C (p.Met296Thr) c.1427T>C (p.Met476Thr) c.1046T>C (p.Met349Thr) c.533T>C (p.Met178Thr) n.38005A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.2661994T>G | CA379479472 | KCNQ1,KCNQ1OT1 | c.1070T>G (p.Met357Arg) c.887T>G (p.Met296Arg) c.1427T>G (p.Met476Arg) c.1046T>G (p.Met349Arg) c.533T>G (p.Met178Arg) n.38005A>C | |
11 | g.2661994T= | CA1948247644 | KCNQ1,KCNQ1OT1 | c.1070T= (p.Met357=) c.887T= (p.Met296=) c.1427T= (p.Met476=) c.1046T= (p.Met349=) c.533T= (p.Met178=) n.38005A= | |
11 | g.2661995G>A | CA379479476 | KCNQ1,KCNQ1OT1 | c.1071G>A (p.Met357Ile) c.888G>A (p.Met296Ile) c.1428G>A (p.Met476Ile) c.1047G>A (p.Met349Ile) c.534G>A (p.Met178Ile) n.38004C>T | dbSNP |
11 | g.2661995G>C | CA379479477 | KCNQ1,KCNQ1OT1 | c.1071G>C (p.Met357Ile) c.888G>C (p.Met296Ile) c.1428G>C (p.Met476Ile) c.1047G>C (p.Met349Ile) c.534G>C (p.Met178Ile) n.38004C>G | |
11 | g.2661995G= | CA1948247647 | KCNQ1,KCNQ1OT1 | c.1071G= (p.Met357=) c.888G= (p.Met296=) c.1428G= (p.Met476=) c.1047G= (p.Met349=) c.534G= (p.Met178=) n.38004C= | |
11 | g.2661995G>T | CA379479478 | KCNQ1,KCNQ1OT1 | c.1071G>T (p.Met357Ile) c.888G>T (p.Met296Ile) c.1428G>T (p.Met476Ile) c.1047G>T (p.Met349Ile) c.534G>T (p.Met178Ile) n.38004C>A | COSMIC |
11 | g.2661996C>A | CA379479480 | KCNQ1,KCNQ1OT1 | c.1072C>A (p.Pro358Thr) c.889C>A (p.Pro297Thr) c.1429C>A (p.Pro477Thr) c.1048C>A (p.Pro350Thr) c.535C>A (p.Pro179Thr) n.38003G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661996C= | CA1948247650 | KCNQ1,KCNQ1OT1 | c.1072C= (p.Pro358=) c.889C= (p.Pro297=) c.1429C= (p.Pro477=) c.1048C= (p.Pro350=) c.535C= (p.Pro179=) n.38003G= | |
11 | g.2661996C>G | CA379479482 | KCNQ1,KCNQ1OT1 | c.1072C>G (p.Pro358Ala) c.889C>G (p.Pro297Ala) c.1429C>G (p.Pro477Ala) c.1048C>G (p.Pro350Ala) c.535C>G (p.Pro179Ala) n.38003G>C | |
11 | g.2661996C>T | CA379479483 | KCNQ1,KCNQ1OT1 | c.1072C>T (p.Pro358Ser) c.889C>T (p.Pro297Ser) c.1429C>T (p.Pro477Ser) c.1048C>T (p.Pro350Ser) c.535C>T (p.Pro179Ser) n.38003G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2661997C>A | CA379479487 | KCNQ1,KCNQ1OT1 | c.1073C>A (p.Pro358His) c.890C>A (p.Pro297His) c.1430C>A (p.Pro477His) c.1049C>A (p.Pro350His) c.536C>A (p.Pro179His) n.38002G>T | |
11 | g.2661997C= | CA1948247658 | KCNQ1,KCNQ1OT1 | c.1073C= (p.Pro358=) c.890C= (p.Pro297=) c.1430C= (p.Pro477=) c.1049C= (p.Pro350=) c.536C= (p.Pro179=) n.38002G= | |
11 | g.2661997C>G | CA379479488 | KCNQ1,KCNQ1OT1 | c.1073C>G (p.Pro358Arg) c.890C>G (p.Pro297Arg) c.1430C>G (p.Pro477Arg) c.1049C>G (p.Pro350Arg) c.536C>G (p.Pro179Arg) n.38002G>C | |
11 | g.2661997C>T | CA005760 | KCNQ1,KCNQ1OT1 | c.1073C>T (p.Pro358Leu) c.890C>T (p.Pro297Leu) c.1430C>T (p.Pro477Leu) c.1049C>T (p.Pro350Leu) c.536C>T (p.Pro179Leu) n.38002G>A | ClinVar dbSNP |
11 | g.2661998C>A | CA472236283 | KCNQ1,KCNQ1OT1 | c.1074C>A (p.Pro358=) c.891C>A (p.Pro297=) c.1431C>A (p.Pro477=) c.1050C>A (p.Pro350=) c.537C>A (p.Pro179=) n.38001G>T | |
11 | g.2661998C= | CA1948247666 | KCNQ1,KCNQ1OT1 | c.1074C= (p.Pro358=) c.891C= (p.Pro297=) c.1431C= (p.Pro477=) c.1050C= (p.Pro350=) c.537C= (p.Pro179=) n.38001G= | |
11 | g.2661998C>G | CA472236284 | KCNQ1,KCNQ1OT1 | c.1074C>G (p.Pro358=) c.891C>G (p.Pro297=) c.1431C>G (p.Pro477=) c.1050C>G (p.Pro350=) c.537C>G (p.Pro179=) n.38001G>C | ClinVar |
11 | g.2661998C>T | CA029920 | KCNQ1,KCNQ1OT1 | c.1074C>T (p.Pro358=) c.891C>T (p.Pro297=) c.1431C>T (p.Pro477=) c.1050C>T (p.Pro350=) c.537C>T (p.Pro179=) n.38001G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2661999C>A | CA379479493 | KCNQ1,KCNQ1OT1 | c.1075C>A (p.His359Asn) c.892C>A (p.His298Asn) c.1432C>A (p.His478Asn) c.1051C>A (p.His351Asn) c.538C>A (p.His180Asn) n.38000G>T | ClinVar |
11 | g.2661999C= | CA1948247672 | KCNQ1,KCNQ1OT1 | c.1075C= (p.His359=) c.892C= (p.His298=) c.1432C= (p.His478=) c.1051C= (p.His351=) c.538C= (p.His180=) n.38000G= | |
11 | g.2661999C>G | CA379479494 | KCNQ1,KCNQ1OT1 | c.1075C>G (p.His359Asp) c.892C>G (p.His298Asp) c.1432C>G (p.His478Asp) c.1051C>G (p.His351Asp) c.538C>G (p.His180Asp) n.38000G>C | |
11 | g.2661999C>T | CA379479495 | KCNQ1,KCNQ1OT1 | c.1075C>T (p.His359Tyr) c.892C>T (p.His298Tyr) c.1432C>T (p.His478Tyr) c.1051C>T (p.His351Tyr) c.538C>T (p.His180Tyr) n.38000G>A | dbSNP gnomAD v2 COSMIC |
11 | g.2662000A>C | CA379479498 | KCNQ1,KCNQ1OT1 | c.1076A>C (p.His359Pro) c.893A>C (p.His298Pro) c.1433A>C (p.His478Pro) c.1052A>C (p.His351Pro) c.539A>C (p.His180Pro) n.37999T>G | |
11 | g.2662000A>G | CA379479503 | KCNQ1,KCNQ1OT1 | c.1076A>G (p.His359Arg) c.893A>G (p.His298Arg) c.1433A>G (p.His478Arg) c.1052A>G (p.His351Arg) c.539A>G (p.His180Arg) n.37999T>C | |
11 | g.2662000A>T | CA379479502 | KCNQ1,KCNQ1OT1 | c.1076A>T (p.His359Leu) c.893A>T (p.His298Leu) c.1433A>T (p.His478Leu) c.1052A>T (p.His351Leu) c.539A>T (p.His180Leu) n.37999T>A | |
11 | g.2662001T>A | CA379479505 | KCNQ1,KCNQ1OT1 | c.1077T>A (p.His359Gln) c.894T>A (p.His298Gln) c.1434T>A (p.His478Gln) c.1053T>A (p.His351Gln) c.540T>A (p.His180Gln) n.37998A>T | |
11 | g.2662001T>C | CA472236286 | KCNQ1,KCNQ1OT1 | c.1077T>C (p.His359=) c.894T>C (p.His298=) c.1434T>C (p.His478=) c.1053T>C (p.His351=) c.540T>C (p.His180=) n.37998A>G | gnomAD v4 |
11 | g.2662001T>G | CA379479507 | KCNQ1,KCNQ1OT1 | c.1077T>G (p.His359Gln) c.894T>G (p.His298Gln) c.1434T>G (p.His478Gln) c.1053T>G (p.His351Gln) c.540T>G (p.His180Gln) n.37998A>C | |
11 | g.2662002T>A | CA379479509 | KCNQ1,KCNQ1OT1 | c.1078T>A (p.Phe360Ile) c.895T>A (p.Phe299Ile) c.1435T>A (p.Phe479Ile) c.1054T>A (p.Phe352Ile) c.541T>A (p.Phe181Ile) n.37997A>T | |
11 | g.2662002T>C | CA379479510 | KCNQ1,KCNQ1OT1 | c.1078T>C (p.Phe360Leu) c.895T>C (p.Phe299Leu) c.1435T>C (p.Phe479Leu) c.1054T>C (p.Phe352Leu) c.541T>C (p.Phe181Leu) n.37997A>G | gnomAD v4 |
11 | g.2662002T>G | CA379479511 | KCNQ1,KCNQ1OT1 | c.1078T>G (p.Phe360Val) c.895T>G (p.Phe299Val) c.1435T>G (p.Phe479Val) c.1054T>G (p.Phe352Val) c.541T>G (p.Phe181Val) n.37997A>C | |
11 | g.2662003T>A | CA379479513 | KCNQ1,KCNQ1OT1 | c.1079T>A (p.Phe360Tyr) c.896T>A (p.Phe299Tyr) c.1436T>A (p.Phe479Tyr) c.1055T>A (p.Phe352Tyr) c.542T>A (p.Phe181Tyr) n.37996A>T | ClinVar dbSNP |
11 | g.2662003T>C | CA379479515 | KCNQ1,KCNQ1OT1 | c.1079T>C (p.Phe360Ser) c.896T>C (p.Phe299Ser) c.1436T>C (p.Phe479Ser) c.1055T>C (p.Phe352Ser) c.542T>C (p.Phe181Ser) n.37996A>G | |
11 | g.2662003T>G | CA379479517 | KCNQ1,KCNQ1OT1 | c.1079T>G (p.Phe360Cys) c.896T>G (p.Phe299Cys) c.1436T>G (p.Phe479Cys) c.1055T>G (p.Phe352Cys) c.542T>G (p.Phe181Cys) n.37996A>C | |
11 | g.2662003T= | CA1948247677 | KCNQ1,KCNQ1OT1 | c.1079T= (p.Phe360=) c.896T= (p.Phe299=) c.1436T= (p.Phe479=) c.1055T= (p.Phe352=) c.542T= (p.Phe181=) n.37996A= | |
11 | g.2662004C>A | CA379479520 | KCNQ1,KCNQ1OT1 | c.1080C>A (p.Phe360Leu) c.897C>A (p.Phe299Leu) c.1437C>A (p.Phe479Leu) c.1056C>A (p.Phe352Leu) c.543C>A (p.Phe181Leu) n.37995G>T | ClinVar dbSNP gnomAD v4 |
11 | g.2662004C= | CA1948247683 | KCNQ1,KCNQ1OT1 | c.1080C= (p.Phe360=) c.897C= (p.Phe299=) c.1437C= (p.Phe479=) c.1056C= (p.Phe352=) c.543C= (p.Phe181=) n.37995G= | |
11 | g.2662004C>G | CA379479521 | KCNQ1,KCNQ1OT1 | c.1080C>G (p.Phe360Leu) c.897C>G (p.Phe299Leu) c.1437C>G (p.Phe479Leu) c.1056C>G (p.Phe352Leu) c.543C>G (p.Phe181Leu) n.37995G>C | ClinVar |
11 | g.2662004C>T | CA472236288 | KCNQ1,KCNQ1OT1 | c.1080C>T (p.Phe360=) c.897C>T (p.Phe299=) c.1437C>T (p.Phe479=) c.1056C>T (p.Phe352=) c.543C>T (p.Phe181=) n.37995G>A | gnomAD v4 |
11 | g.2662005A>C | CA379479526 | KCNQ1,KCNQ1OT1 | c.1081A>C (p.Met361Leu) c.898A>C (p.Met300Leu) c.1438A>C (p.Met480Leu) c.1057A>C (p.Met353Leu) c.544A>C (p.Met182Leu) n.37994T>G | |
11 | g.2662005A>G | CA379479528 | KCNQ1,KCNQ1OT1 | c.1081A>G (p.Met361Val) c.898A>G (p.Met300Val) c.1438A>G (p.Met480Val) c.1057A>G (p.Met353Val) c.544A>G (p.Met182Val) n.37994T>C | gnomAD v4 |
11 | g.2662005A>T | CA379479524 | KCNQ1,KCNQ1OT1 | c.1081A>T (p.Met361Leu) c.898A>T (p.Met300Leu) c.1438A>T (p.Met480Leu) c.1057A>T (p.Met353Leu) c.544A>T (p.Met182Leu) n.37994T>A | |
11 | g.2662006T>A | CA379479536 | KCNQ1,KCNQ1OT1 | c.1082T>A (p.Met361Lys) c.899T>A (p.Met300Lys) c.1439T>A (p.Met480Lys) c.1058T>A (p.Met353Lys) c.545T>A (p.Met182Lys) n.37993A>T | |
11 | g.2662006T>C | CA216170771 | KCNQ1,KCNQ1OT1 | c.1082T>C (p.Met361Thr) c.899T>C (p.Met300Thr) c.1439T>C (p.Met480Thr) c.1058T>C (p.Met353Thr) c.545T>C (p.Met182Thr) n.37993A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662006T>G | CA379479534 | KCNQ1,KCNQ1OT1 | c.1082T>G (p.Met361Arg) c.899T>G (p.Met300Arg) c.1439T>G (p.Met480Arg) c.1058T>G (p.Met353Arg) c.545T>G (p.Met182Arg) n.37993A>C | dbSNP gnomAD v4 |
11 | g.2662006T= | CA1948247689 | KCNQ1,KCNQ1OT1 | c.1082T= (p.Met361=) c.899T= (p.Met300=) c.1439T= (p.Met480=) c.1058T= (p.Met353=) c.545T= (p.Met182=) n.37993A= | |
11 | g.2662007G>A | CA379479539 | KCNQ1,KCNQ1OT1 | c.1083G>A (p.Met361Ile) c.900G>A (p.Met300Ile) c.1440G>A (p.Met480Ile) c.1059G>A (p.Met353Ile) c.546G>A (p.Met182Ile) n.37992C>T | dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.2662007G>C | CA379479540 | KCNQ1,KCNQ1OT1 | c.1083G>C (p.Met361Ile) c.900G>C (p.Met300Ile) c.1440G>C (p.Met480Ile) c.1059G>C (p.Met353Ile) c.546G>C (p.Met182Ile) n.37992C>G | |
11 | g.2662007G= | CA1948247698 | KCNQ1,KCNQ1OT1 | c.1083G= (p.Met361=) c.900G= (p.Met300=) c.1440G= (p.Met480=) c.1059G= (p.Met353=) c.546G= (p.Met182=) n.37992C= | |
11 | g.2662007G>T | CA379479542 | KCNQ1,KCNQ1OT1 | c.1083G>T (p.Met361Ile) c.900G>T (p.Met300Ile) c.1440G>T (p.Met480Ile) c.1059G>T (p.Met353Ile) c.546G>T (p.Met182Ile) n.37992C>A | |
11 | g.2662010_2662028dup | CA1139661785 | KCNQ1,KCNQ1OT1 | c.1086_1104dup (p.Asp369AsnfsTer34) c.903_921dup (p.Asp308AsnfsTer34) c.1443_1461dup (p.Asp488AsnfsTer34) c.1062_1080dup (p.Asp361AsnfsTer34) c.549_567dup (p.Asp190AsnfsTer34) n.37974_37992dup | ClinVar dbSNP |
11 | g.2662008A>C | CA472236289 | KCNQ1,KCNQ1OT1 | c.1084A>C (p.Arg362=) c.901A>C (p.Arg301=) c.1441A>C (p.Arg481=) c.1060A>C (p.Arg354=) c.547A>C (p.Arg183=) n.37991T>G | |
11 | g.2662008A>G | CA379479543 | KCNQ1,KCNQ1OT1 | c.1084A>G (p.Arg362Gly) c.901A>G (p.Arg301Gly) c.1441A>G (p.Arg481Gly) c.1060A>G (p.Arg354Gly) c.547A>G (p.Arg183Gly) n.37991T>C | |
11 | g.2662008A>T | CA379479545 | KCNQ1,KCNQ1OT1 | c.1084A>T (p.Arg362Ter) c.901A>T (p.Arg301Ter) c.1441A>T (p.Arg481Ter) c.1060A>T (p.Arg354Ter) c.547A>T (p.Arg183Ter) n.37991T>A | |
11 | g.2662009G>A | CA379479546 | KCNQ1,KCNQ1OT1 | c.1085G>A (p.Arg362Lys) c.902G>A (p.Arg301Lys) c.1442G>A (p.Arg481Lys) c.1061G>A (p.Arg354Lys) c.548G>A (p.Arg183Lys) n.37990C>T | ClinVar dbSNP |
11 | g.2662009G>C | CA379479548 | KCNQ1,KCNQ1OT1 | c.1085G>C (p.Arg362Thr) c.902G>C (p.Arg301Thr) c.1442G>C (p.Arg481Thr) c.1061G>C (p.Arg354Thr) c.548G>C (p.Arg183Thr) n.37990C>G | dbSNP |
11 | g.2662009G= | CA1948247704 | KCNQ1,KCNQ1OT1 | c.1085G= (p.Arg362=) c.902G= (p.Arg301=) c.1442G= (p.Arg481=) c.1061G= (p.Arg354=) c.548G= (p.Arg183=) n.37990C= | |
11 | g.2662009G>T | CA379479550 | KCNQ1,KCNQ1OT1 | c.1085G>T (p.Arg362Ile) c.902G>T (p.Arg301Ile) c.1442G>T (p.Arg481Ile) c.1061G>T (p.Arg354Ile) c.548G>T (p.Arg183Ile) n.37990C>A | |
11 | g.2662010A= | CA1948247710 | KCNQ1,KCNQ1OT1 | c.1086A= (p.Arg362=) c.903A= (p.Arg301=) c.1443A= (p.Arg481=) c.1062A= (p.Arg354=) c.549A= (p.Arg183=) n.37989T= | |
11 | g.2662010A>C | CA379479552 | KCNQ1,KCNQ1OT1 | c.1086A>C (p.Arg362Ser) c.903A>C (p.Arg301Ser) c.1443A>C (p.Arg481Ser) c.1062A>C (p.Arg354Ser) c.549A>C (p.Arg183Ser) n.37989T>G | |
11 | g.2662010A>G | CA472236290 | KCNQ1,KCNQ1OT1 | c.1086A>G (p.Arg362=) c.903A>G (p.Arg301=) c.1443A>G (p.Arg481=) c.1062A>G (p.Arg354=) c.549A>G (p.Arg183=) n.37989T>C | ClinVar dbSNP |
11 | g.2662010A>T | CA379479553 | KCNQ1,KCNQ1OT1 | c.1086A>T (p.Arg362Ser) c.903A>T (p.Arg301Ser) c.1443A>T (p.Arg481Ser) c.1062A>T (p.Arg354Ser) c.549A>T (p.Arg183Ser) n.37989T>A | gnomAD v4 |
11 | g.2662011A= | CA1948247725 | KCNQ1,KCNQ1OT1 | c.1087A= (p.Thr363=) c.904A= (p.Thr302=) c.1444A= (p.Thr482=) c.1063A= (p.Thr355=) c.550A= (p.Thr184=) n.37988T= | |
11 | g.2662011A>C | CA379479556 | KCNQ1,KCNQ1OT1 | c.1087A>C (p.Thr363Pro) c.904A>C (p.Thr302Pro) c.1444A>C (p.Thr482Pro) c.1063A>C (p.Thr355Pro) c.550A>C (p.Thr184Pro) n.37988T>G | |
11 | g.2662011A>G | CA379479555 | KCNQ1,KCNQ1OT1 | c.1087A>G (p.Thr363Ala) c.904A>G (p.Thr302Ala) c.1444A>G (p.Thr482Ala) c.1063A>G (p.Thr355Ala) c.550A>G (p.Thr184Ala) n.37988T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662011A>T | CA379479554 | KCNQ1,KCNQ1OT1 | c.1087A>T (p.Thr363Ser) c.904A>T (p.Thr302Ser) c.1444A>T (p.Thr482Ser) c.1063A>T (p.Thr355Ser) c.550A>T (p.Thr184Ser) n.37988T>A | |
11 | g.2662011_2662012delinsAC | CA1948247724 | KCNQ1,KCNQ1OT1 | c.1087_1088delinsAC (p.Thr363=) c.904_905delinsAC (p.Thr302=) c.1444_1445delinsAC (p.Thr482=) c.1063_1064delinsAC (p.Thr355=) c.550_551delinsAC (p.Thr184=) n.37987_37988delinsGT | |
11 | g.2662012C>A | CA029931 | KCNQ1,KCNQ1OT1 | c.1088C>A (p.Thr363Asn) c.905C>A (p.Thr302Asn) c.1445C>A (p.Thr482Asn) c.1064C>A (p.Thr355Asn) c.551C>A (p.Thr184Asn) n.37987G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662012C= | CA1948247730 | KCNQ1,KCNQ1OT1 | c.1088C= (p.Thr363=) c.905C= (p.Thr302=) c.1445C= (p.Thr482=) c.1064C= (p.Thr355=) c.551C= (p.Thr184=) n.37987G= | |
11 | g.2662012C>G | CA379479558 | KCNQ1,KCNQ1OT1 | c.1088C>G (p.Thr363Ser) c.905C>G (p.Thr302Ser) c.1445C>G (p.Thr482Ser) c.1064C>G (p.Thr355Ser) c.551C>G (p.Thr184Ser) n.37987G>C | dbSNP gnomAD v2 |
11 | g.2662012C>T | CA379479561 | KCNQ1,KCNQ1OT1 | c.1088C>T (p.Thr363Ile) c.905C>T (p.Thr302Ile) c.1445C>T (p.Thr482Ile) c.1064C>T (p.Thr355Ile) c.551C>T (p.Thr184Ile) n.37987G>A | dbSNP |
11 | g.2662013del | CA005767 | KCNQ1,KCNQ1OT1 | c.1089del (p.Asn364ThrfsTer15) c.906del (p.Asn303ThrfsTer15) c.1446del (p.Asn483ThrfsTer15) c.1065del (p.Asn356ThrfsTer15) c.552del (p.Asn185ThrfsTer15) n.37987del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662013C>A | CA472236292 | KCNQ1,KCNQ1OT1 | c.1089C>A (p.Thr363=) c.906C>A (p.Thr302=) c.1446C>A (p.Thr482=) c.1065C>A (p.Thr355=) c.552C>A (p.Thr184=) n.37986G>T | dbSNP gnomAD v4 |
11 | g.2662013C= | CA1948247734 | KCNQ1,KCNQ1OT1 | c.1089C= (p.Thr363=) c.906C= (p.Thr302=) c.1446C= (p.Thr482=) c.1065C= (p.Thr355=) c.552C= (p.Thr184=) n.37986G= | |
11 | g.2662013C>G | CA472236291 | KCNQ1,KCNQ1OT1 | c.1089C>G (p.Thr363=) c.906C>G (p.Thr302=) c.1446C>G (p.Thr482=) c.1065C>G (p.Thr355=) c.552C>G (p.Thr184=) n.37986G>C | |
11 | g.2662013C>T | CA16613532 | KCNQ1,KCNQ1OT1 | c.1089C>T (p.Thr363=) c.906C>T (p.Thr302=) c.1446C>T (p.Thr482=) c.1065C>T (p.Thr355=) c.552C>T (p.Thr184=) n.37986G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2662014A>C | CA379479562 | KCNQ1,KCNQ1OT1 | c.1090A>C (p.Asn364His) c.907A>C (p.Asn303His) c.1447A>C (p.Asn483His) c.1066A>C (p.Asn356His) c.553A>C (p.Asn185His) n.37985T>G | |
11 | g.2662014A>G | CA379479563 | KCNQ1,KCNQ1OT1 | c.1090A>G (p.Asn364Asp) c.907A>G (p.Asn303Asp) c.1447A>G (p.Asn483Asp) c.1066A>G (p.Asn356Asp) c.553A>G (p.Asn185Asp) n.37985T>C | |
11 | g.2662014A>T | CA379479564 | KCNQ1,KCNQ1OT1 | c.1090A>T (p.Asn364Tyr) c.907A>T (p.Asn303Tyr) c.1447A>T (p.Asn483Tyr) c.1066A>T (p.Asn356Tyr) c.553A>T (p.Asn185Tyr) n.37985T>A | |
11 | g.2662015A= | CA1948247736 | KCNQ1,KCNQ1OT1 | c.1091A= (p.Asn364=) c.908A= (p.Asn303=) c.1448A= (p.Asn483=) c.1067A= (p.Asn356=) c.554A= (p.Asn185=) n.37984T= | |
11 | g.2662015A>C | CA379479565 | KCNQ1,KCNQ1OT1 | c.1091A>C (p.Asn364Thr) c.908A>C (p.Asn303Thr) c.1448A>C (p.Asn483Thr) c.1067A>C (p.Asn356Thr) c.554A>C (p.Asn185Thr) n.37984T>G | |
11 | g.2662015A>G | CA216170778 | KCNQ1,KCNQ1OT1 | c.1091A>G (p.Asn364Ser) c.908A>G (p.Asn303Ser) c.1448A>G (p.Asn483Ser) c.1067A>G (p.Asn356Ser) c.554A>G (p.Asn185Ser) n.37984T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2662015A>T | CA379479569 | KCNQ1,KCNQ1OT1 | c.1091A>T (p.Asn364Ile) c.908A>T (p.Asn303Ile) c.1448A>T (p.Asn483Ile) c.1067A>T (p.Asn356Ile) c.554A>T (p.Asn185Ile) n.37984T>A | |
11 | g.2662016C>A | CA379479571 | KCNQ1,KCNQ1OT1 | c.1092C>A (p.Asn364Lys) c.909C>A (p.Asn303Lys) c.1449C>A (p.Asn483Lys) c.1068C>A (p.Asn356Lys) c.555C>A (p.Asn185Lys) n.37983G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2662016C= | CA1948247740 | KCNQ1,KCNQ1OT1 | c.1092C= (p.Asn364=) c.909C= (p.Asn303=) c.1449C= (p.Asn483=) c.1068C= (p.Asn356=) c.555C= (p.Asn185=) n.37983G= | |
11 | g.2662016C>G | CA379479573 | KCNQ1,KCNQ1OT1 | c.1092C>G (p.Asn364Lys) c.909C>G (p.Asn303Lys) c.1449C>G (p.Asn483Lys) c.1068C>G (p.Asn356Lys) c.555C>G (p.Asn185Lys) n.37983G>C | |
11 | g.2662016C>T | CA472236293 | KCNQ1,KCNQ1OT1 | c.1092C>T (p.Asn364=) c.909C>T (p.Asn303=) c.1449C>T (p.Asn483=) c.1068C>T (p.Asn356=) c.555C>T (p.Asn185=) n.37983G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2662017A>C | CA379479578 | KCNQ1,KCNQ1OT1 | c.1093A>C (p.Ser365Arg) c.910A>C (p.Ser304Arg) c.1450A>C (p.Ser484Arg) c.1069A>C (p.Ser357Arg) c.556A>C (p.Ser186Arg) n.37982T>G | |
11 | g.2662017A>G | CA379479576 | KCNQ1,KCNQ1OT1 | c.1093A>G (p.Ser365Gly) c.910A>G (p.Ser304Gly) c.1450A>G (p.Ser484Gly) c.1069A>G (p.Ser357Gly) c.556A>G (p.Ser186Gly) n.37982T>C | |
11 | g.2662017A>T | CA379479575 | KCNQ1,KCNQ1OT1 | c.1093A>T (p.Ser365Cys) c.910A>T (p.Ser304Cys) c.1450A>T (p.Ser484Cys) c.1069A>T (p.Ser357Cys) c.556A>T (p.Ser186Cys) n.37982T>A | |
11 | g.2662018G>A | CA379479580 | KCNQ1,KCNQ1OT1 | c.1094G>A (p.Ser365Asn) c.911G>A (p.Ser304Asn) c.1451G>A (p.Ser484Asn) c.1070G>A (p.Ser357Asn) c.557G>A (p.Ser186Asn) n.37981C>T | COSMIC COSMIC |
11 | g.2662018G>C | CA005774 | KCNQ1,KCNQ1OT1 | c.1094G>C (p.Ser365Thr) c.911G>C (p.Ser304Thr) c.1451G>C (p.Ser484Thr) c.1070G>C (p.Ser357Thr) c.557G>C (p.Ser186Thr) n.37981C>G | ClinVar dbSNP gnomAD v4 |
11 | g.2662018G= | CA1948247744 | KCNQ1,KCNQ1OT1 | c.1094G= (p.Ser365=) c.911G= (p.Ser304=) c.1451G= (p.Ser484=) c.1070G= (p.Ser357=) c.557G= (p.Ser186=) n.37981C= | |
11 | g.2662018G>T | CA379479584 | KCNQ1,KCNQ1OT1 | c.1094G>T (p.Ser365Ile) c.911G>T (p.Ser304Ile) c.1451G>T (p.Ser484Ile) c.1070G>T (p.Ser357Ile) c.557G>T (p.Ser186Ile) n.37981C>A | |
11 | g.2662019C>A | CA379479585 | KCNQ1,KCNQ1OT1 | c.1095C>A (p.Ser365Arg) c.912C>A (p.Ser304Arg) c.1452C>A (p.Ser484Arg) c.1071C>A (p.Ser357Arg) c.558C>A (p.Ser186Arg) n.37980G>T | |
11 | g.2662019C>G | CA379479586 | KCNQ1,KCNQ1OT1 | c.1095C>G (p.Ser365Arg) c.912C>G (p.Ser304Arg) c.1452C>G (p.Ser484Arg) c.1071C>G (p.Ser357Arg) c.558C>G (p.Ser186Arg) n.37980G>C | |
11 | g.2662019C>T | CA472236294 | KCNQ1,KCNQ1OT1 | c.1095C>T (p.Ser365=) c.912C>T (p.Ser304=) c.1452C>T (p.Ser484=) c.1071C>T (p.Ser357=) c.558C>T (p.Ser186=) n.37980G>A | gnomAD v4 |
11 | g.2662020T>A | CA379479590 | KCNQ1,KCNQ1OT1 | c.1096T>A (p.Phe366Ile) c.913T>A (p.Phe305Ile) c.1453T>A (p.Phe485Ile) c.1072T>A (p.Phe358Ile) c.559T>A (p.Phe187Ile) n.37979A>T | |
11 | g.2662020T>C | CA379479588 | KCNQ1,KCNQ1OT1 | c.1096T>C (p.Phe366Leu) c.913T>C (p.Phe305Leu) c.1453T>C (p.Phe485Leu) c.1072T>C (p.Phe358Leu) c.559T>C (p.Phe187Leu) n.37979A>G | |
11 | g.2662020T>G | CA379479587 | KCNQ1,KCNQ1OT1 | c.1096T>G (p.Phe366Val) c.913T>G (p.Phe305Val) c.1453T>G (p.Phe485Val) c.1072T>G (p.Phe358Val) c.559T>G (p.Phe187Val) n.37979A>C | |
11 | g.2662021T>A | CA379479592 | KCNQ1,KCNQ1OT1 | c.1097T>A (p.Phe366Tyr) c.914T>A (p.Phe305Tyr) c.1454T>A (p.Phe485Tyr) c.1073T>A (p.Phe358Tyr) c.560T>A (p.Phe187Tyr) n.37978A>T | |
11 | g.2662021T>C | CA379479594 | KCNQ1,KCNQ1OT1 | c.1097T>C (p.Phe366Ser) c.914T>C (p.Phe305Ser) c.1454T>C (p.Phe485Ser) c.1073T>C (p.Phe358Ser) c.560T>C (p.Phe187Ser) n.37978A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662021T>G | CA379479595 | KCNQ1,KCNQ1OT1 | c.1097T>G (p.Phe366Cys) c.914T>G (p.Phe305Cys) c.1454T>G (p.Phe485Cys) c.1073T>G (p.Phe358Cys) c.560T>G (p.Phe187Cys) n.37978A>C | |
11 | g.2662021T= | CA1948247750 | KCNQ1,KCNQ1OT1 | c.1097T= (p.Phe366=) c.914T= (p.Phe305=) c.1454T= (p.Phe485=) c.1073T= (p.Phe358=) c.560T= (p.Phe187=) n.37978A= | |
11 | g.2662022C>A | CA379479597 | KCNQ1,KCNQ1OT1 | c.1098C>A (p.Phe366Leu) c.915C>A (p.Phe305Leu) c.1455C>A (p.Phe485Leu) c.1074C>A (p.Phe358Leu) c.561C>A (p.Phe187Leu) n.37977G>T | |
11 | g.2662022C= | CA1948247760 | KCNQ1,KCNQ1OT1 | c.1098C= (p.Phe366=) c.915C= (p.Phe305=) c.1455C= (p.Phe485=) c.1074C= (p.Phe358=) c.561C= (p.Phe187=) n.37977G= | |
11 | g.2662022C>G | CA379479599 | KCNQ1,KCNQ1OT1 | c.1098C>G (p.Phe366Leu) c.915C>G (p.Phe305Leu) c.1455C>G (p.Phe485Leu) c.1074C>G (p.Phe358Leu) c.561C>G (p.Phe187Leu) n.37977G>C | |
11 | g.2662022C>T | CA005779 | KCNQ1,KCNQ1OT1 | c.1098C>T (p.Phe366=) c.915C>T (p.Phe305=) c.1455C>T (p.Phe485=) c.1074C>T (p.Phe358=) c.561C>T (p.Phe187=) n.37977G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662023G>A | CA029975 | KCNQ1,KCNQ1OT1 | c.1099G>A (p.Ala367Thr) c.916G>A (p.Ala306Thr) c.1456G>A (p.Ala486Thr) c.1075G>A (p.Ala359Thr) c.562G>A (p.Ala188Thr) n.37976C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2662023G>C | CA349428 | KCNQ1,KCNQ1OT1 | c.1099G>C (p.Ala367Pro) c.916G>C (p.Ala306Pro) c.1456G>C (p.Ala486Pro) c.1075G>C (p.Ala359Pro) c.562G>C (p.Ala188Pro) n.37976C>G | ClinVar dbSNP |
11 | g.2662023G= | CA1948247774 | KCNQ1,KCNQ1OT1 | c.1099G= (p.Ala367=) c.916G= (p.Ala306=) c.1456G= (p.Ala486=) c.1075G= (p.Ala359=) c.562G= (p.Ala188=) n.37976C= | |
11 | g.2662023G>T | CA379479603 | KCNQ1,KCNQ1OT1 | c.1099G>T (p.Ala367Ser) c.916G>T (p.Ala306Ser) c.1456G>T (p.Ala486Ser) c.1075G>T (p.Ala359Ser) c.562G>T (p.Ala188Ser) n.37976C>A | |
11 | g.2662024C>A | CA379479606 | KCNQ1,KCNQ1OT1 | c.1100C>A (p.Ala367Asp) c.917C>A (p.Ala306Asp) c.1457C>A (p.Ala486Asp) c.1076C>A (p.Ala359Asp) c.563C>A (p.Ala188Asp) n.37975G>T | |
11 | g.2662024C>G | CA379479609 | KCNQ1,KCNQ1OT1 | c.1100C>G (p.Ala367Gly) c.917C>G (p.Ala306Gly) c.1457C>G (p.Ala486Gly) c.1076C>G (p.Ala359Gly) c.563C>G (p.Ala188Gly) n.37975G>C | |
11 | g.2662024C>T | CA379479611 | KCNQ1,KCNQ1OT1 | c.1100C>T (p.Ala367Val) c.917C>T (p.Ala306Val) c.1457C>T (p.Ala486Val) c.1076C>T (p.Ala359Val) c.563C>T (p.Ala188Val) n.37975G>A | ClinVar gnomAD v4 |
11 | g.2662025C>A | CA472236295 | KCNQ1,KCNQ1OT1 | c.1101C>A (p.Ala367=) c.918C>A (p.Ala306=) c.1458C>A (p.Ala486=) c.1077C>A (p.Ala359=) c.564C>A (p.Ala188=) n.37974G>T | |
11 | g.2662025C= | CA1948247778 | KCNQ1,KCNQ1OT1 | c.1101C= (p.Ala367=) c.918C= (p.Ala306=) c.1458C= (p.Ala486=) c.1077C= (p.Ala359=) c.564C= (p.Ala188=) n.37974G= | |
11 | g.2662025C>G | CA472236296 | KCNQ1,KCNQ1OT1 | c.1101C>G (p.Ala367=) c.918C>G (p.Ala306=) c.1458C>G (p.Ala486=) c.1077C>G (p.Ala359=) c.564C>G (p.Ala188=) n.37974G>C | |
11 | g.2662025C>T | CA029993 | KCNQ1,KCNQ1OT1 | c.1101C>T (p.Ala367=) c.918C>T (p.Ala306=) c.1458C>T (p.Ala486=) c.1077C>T (p.Ala359=) c.564C>T (p.Ala188=) n.37974G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662026G>A | CA379479615 | KCNQ1,KCNQ1OT1 | c.1102G>A (p.Glu368Lys) c.919G>A (p.Glu307Lys) c.1459G>A (p.Glu487Lys) c.1078G>A (p.Glu360Lys) c.565G>A (p.Glu189Lys) n.37973C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662026G>C | CA379479617 | KCNQ1,KCNQ1OT1 | c.1102G>C (p.Glu368Gln) c.919G>C (p.Glu307Gln) c.1459G>C (p.Glu487Gln) c.1078G>C (p.Glu360Gln) c.565G>C (p.Glu189Gln) n.37973C>G | |
11 | g.2662026G= | CA1948247783 | KCNQ1,KCNQ1OT1 | c.1102G= (p.Glu368=) c.919G= (p.Glu307=) c.1459G= (p.Glu487=) c.1078G= (p.Glu360=) c.565G= (p.Glu189=) n.37973C= | |
11 | g.2662026G>T | CA379479619 | KCNQ1,KCNQ1OT1 | c.1102G>T (p.Glu368Ter) c.919G>T (p.Glu307Ter) c.1459G>T (p.Glu487Ter) c.1078G>T (p.Glu360Ter) c.565G>T (p.Glu189Ter) n.37973C>A | ClinVar |
11 | g.2662027A= | CA1948247789 | KCNQ1,KCNQ1OT1 | c.1103A= (p.Glu368=) c.920A= (p.Glu307=) c.1460A= (p.Glu487=) c.1079A= (p.Glu360=) c.566A= (p.Glu189=) n.37972T= | |
11 | g.2662027A>C | CA379479621 | KCNQ1,KCNQ1OT1 | c.1103A>C (p.Glu368Ala) c.920A>C (p.Glu307Ala) c.1460A>C (p.Glu487Ala) c.1079A>C (p.Glu360Ala) c.566A>C (p.Glu189Ala) n.37972T>G | |
11 | g.2662027A>G | CA379479624 | KCNQ1,KCNQ1OT1 | c.1103A>G (p.Glu368Gly) c.920A>G (p.Glu307Gly) c.1460A>G (p.Glu487Gly) c.1079A>G (p.Glu360Gly) c.566A>G (p.Glu189Gly) n.37972T>C | |
11 | g.2662027A>T | CA379479625 | KCNQ1,KCNQ1OT1 | c.1103A>T (p.Glu368Val) c.920A>T (p.Glu307Val) c.1460A>T (p.Glu487Val) c.1079A>T (p.Glu360Val) c.566A>T (p.Glu189Val) n.37972T>A | |
11 | g.2662027_2662032dup | CA2612007045 | KCNQ1,KCNQ1OT1 | c.1103_1108dup (p.Asp369_Leu370insGlnAsp) c.920_925dup (p.Asp308_Leu309insGlnAsp) c.1460_1465dup (p.Asp488_Leu489insGlnAsp) c.1079_1084dup (p.Asp361_Leu362insGlnAsp) c.566_571dup (p.Asp190_Leu191insGlnAsp) n.37967_37972dup | gnomAD v4 |
11 | g.2662028G>A | CA472236297 | KCNQ1,KCNQ1OT1 | c.1104G>A (p.Glu368=) c.921G>A (p.Glu307=) c.1461G>A (p.Glu487=) c.1080G>A (p.Glu360=) c.567G>A (p.Glu189=) n.37971C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662028G>C | CA379479626 | KCNQ1,KCNQ1OT1 | c.1104G>C (p.Glu368Asp) c.921G>C (p.Glu307Asp) c.1461G>C (p.Glu487Asp) c.1080G>C (p.Glu360Asp) c.567G>C (p.Glu189Asp) n.37971C>G | |
11 | g.2662028G= | CA1948247793 | KCNQ1,KCNQ1OT1 | c.1104G= (p.Glu368=) c.921G= (p.Glu307=) c.1461G= (p.Glu487=) c.1080G= (p.Glu360=) c.567G= (p.Glu189=) n.37971C= | |
11 | g.2662028G>T | CA379479627 | KCNQ1,KCNQ1OT1 | c.1104G>T (p.Glu368Asp) c.921G>T (p.Glu307Asp) c.1461G>T (p.Glu487Asp) c.1080G>T (p.Glu360Asp) c.567G>T (p.Glu189Asp) n.37971C>A | |
11 | g.2662029del | CA658761332 | KCNQ1,KCNQ1OT1 | c.1105del (p.Asp369ThrfsTer10) c.922del (p.Asp308ThrfsTer10) c.1462del (p.Asp488ThrfsTer10) c.1081del (p.Asp361ThrfsTer10) c.568del (p.Asp190ThrfsTer10) n.37971del | |
11 | g.2662037_2662042dup | CA597443115 | KCNQ1,KCNQ1OT1 | c.1113_1118dup (p.Leu372_Glu373insAspLeu) c.930_935dup (p.Leu311_Glu312insAspLeu) c.1470_1475dup (p.Leu491_Glu492insAspLeu) c.1089_1094dup (p.Leu364_Glu365insAspLeu) c.576_581dup (p.Leu193_Glu194insAspLeu) n.37966_37971dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2662029G>A | CA379479630 | KCNQ1,KCNQ1OT1 | c.1105G>A (p.Asp369Asn) c.922G>A (p.Asp308Asn) c.1462G>A (p.Asp488Asn) c.1081G>A (p.Asp361Asn) c.568G>A (p.Asp190Asn) n.37970C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2662029G>C | CA379479632 | KCNQ1,KCNQ1OT1 | c.1105G>C (p.Asp369His) c.922G>C (p.Asp308His) c.1462G>C (p.Asp488His) c.1081G>C (p.Asp361His) c.568G>C (p.Asp190His) n.37970C>G | ClinVar dbSNP |
11 | g.2662029G>T | CA379479628 | KCNQ1,KCNQ1OT1 | c.1105G>T (p.Asp369Tyr) c.922G>T (p.Asp308Tyr) c.1462G>T (p.Asp488Tyr) c.1081G>T (p.Asp361Tyr) c.568G>T (p.Asp190Tyr) n.37970C>A | |
11 | g.2662030A>C | CA379479637 | KCNQ1,KCNQ1OT1 | c.1106A>C (p.Asp369Ala) c.923A>C (p.Asp308Ala) c.1463A>C (p.Asp488Ala) c.1082A>C (p.Asp361Ala) c.569A>C (p.Asp190Ala) n.37969T>G | |
11 | g.2662030A>G | CA379479634 | KCNQ1,KCNQ1OT1 | c.1106A>G (p.Asp369Gly) c.923A>G (p.Asp308Gly) c.1463A>G (p.Asp488Gly) c.1082A>G (p.Asp361Gly) c.569A>G (p.Asp190Gly) n.37969T>C | |
11 | g.2662030A>T | CA379479639 | KCNQ1,KCNQ1OT1 | c.1106A>T (p.Asp369Val) c.923A>T (p.Asp308Val) c.1463A>T (p.Asp488Val) c.1082A>T (p.Asp361Val) c.569A>T (p.Asp190Val) n.37969T>A | |
11 | g.2662031C>A | CA005784 | KCNQ1,KCNQ1OT1 | c.1107C>A (p.Asp369Glu) c.924C>A (p.Asp308Glu) c.1464C>A (p.Asp488Glu) c.1083C>A (p.Asp361Glu) c.570C>A (p.Asp190Glu) n.37968G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662031C= | CA1948247800 | KCNQ1,KCNQ1OT1 | c.1107C= (p.Asp369=) c.924C= (p.Asp308=) c.1464C= (p.Asp488=) c.1083C= (p.Asp361=) c.570C= (p.Asp190=) n.37968G= | |
11 | g.2662031C>G | CA379479642 | KCNQ1,KCNQ1OT1 | c.1107C>G (p.Asp369Glu) c.924C>G (p.Asp308Glu) c.1464C>G (p.Asp488Glu) c.1083C>G (p.Asp361Glu) c.570C>G (p.Asp190Glu) n.37968G>C | |
11 | g.2662031C>T | CA472236298 | KCNQ1,KCNQ1OT1 | c.1107C>T (p.Asp369=) c.924C>T (p.Asp308=) c.1464C>T (p.Asp488=) c.1083C>T (p.Asp361=) c.570C>T (p.Asp190=) n.37968G>A | gnomAD v4 |
11 | g.2662032C>A | CA379479644 | KCNQ1,KCNQ1OT1 | c.1108C>A (p.Leu370Met) c.925C>A (p.Leu309Met) c.1465C>A (p.Leu489Met) c.1084C>A (p.Leu362Met) c.571C>A (p.Leu191Met) n.37967G>T | |
11 | g.2662032C>G | CA379479647 | KCNQ1,KCNQ1OT1 | c.1108C>G (p.Leu370Val) c.925C>G (p.Leu309Val) c.1465C>G (p.Leu489Val) c.1084C>G (p.Leu362Val) c.571C>G (p.Leu191Val) n.37967G>C | |
11 | g.2662032C>T | CA472236299 | KCNQ1,KCNQ1OT1 | c.1108C>T (p.Leu370=) c.925C>T (p.Leu309=) c.1465C>T (p.Leu489=) c.1084C>T (p.Leu362=) c.571C>T (p.Leu191=) n.37967G>A | gnomAD v4 |
11 | g.2662033T>A | CA379479650 | KCNQ1,KCNQ1OT1 | c.1109T>A (p.Leu370Gln) c.926T>A (p.Leu309Gln) c.1466T>A (p.Leu489Gln) c.1085T>A (p.Leu362Gln) c.572T>A (p.Leu191Gln) n.37966A>T | |
11 | g.2662033T>C | CA379479652 | KCNQ1,KCNQ1OT1 | c.1109T>C (p.Leu370Pro) c.926T>C (p.Leu309Pro) c.1466T>C (p.Leu489Pro) c.1085T>C (p.Leu362Pro) c.572T>C (p.Leu191Pro) n.37966A>G | gnomAD v4 |
11 | g.2662033T>G | CA379479655 | KCNQ1,KCNQ1OT1 | c.1109T>G (p.Leu370Arg) c.926T>G (p.Leu309Arg) c.1466T>G (p.Leu489Arg) c.1085T>G (p.Leu362Arg) c.572T>G (p.Leu191Arg) n.37966A>C | dbSNP |
11 | g.2662033T= | CA1948247804 | KCNQ1,KCNQ1OT1 | c.1109T= (p.Leu370=) c.926T= (p.Leu309=) c.1466T= (p.Leu489=) c.1085T= (p.Leu362=) c.572T= (p.Leu191=) n.37966A= | |
11 | g.2662034G>A | CA472236302 | KCNQ1,KCNQ1OT1 | c.1110G>A (p.Leu370=) c.927G>A (p.Leu309=) c.1467G>A (p.Leu489=) c.1086G>A (p.Leu362=) c.573G>A (p.Leu191=) n.37965C>T | |
11 | g.2662034G>C | CA472236300 | KCNQ1,KCNQ1OT1 | c.1110G>C (p.Leu370=) c.927G>C (p.Leu309=) c.1467G>C (p.Leu489=) c.1086G>C (p.Leu362=) c.573G>C (p.Leu191=) n.37965C>G | ClinVar dbSNP |
11 | g.2662034G= | CA1948247809 | KCNQ1,KCNQ1OT1 | c.1110G= (p.Leu370=) c.927G= (p.Leu309=) c.1467G= (p.Leu489=) c.1086G= (p.Leu362=) c.573G= (p.Leu191=) n.37965C= | |
11 | g.2662034G>T | CA472236301 | KCNQ1,KCNQ1OT1 | c.1110G>T (p.Leu370=) c.927G>T (p.Leu309=) c.1467G>T (p.Leu489=) c.1086G>T (p.Leu362=) c.573G>T (p.Leu191=) n.37965C>A | |
11 | g.2662035G>A | CA379479658 | KCNQ1,KCNQ1OT1 | c.1111G>A (p.Asp371Asn) c.928G>A (p.Asp310Asn) c.1468G>A (p.Asp490Asn) c.1087G>A (p.Asp363Asn) c.574G>A (p.Asp192Asn) n.37964C>T | |
11 | g.2662035G>C | CA379479660 | KCNQ1,KCNQ1OT1 | c.1111G>C (p.Asp371His) c.928G>C (p.Asp310His) c.1468G>C (p.Asp490His) c.1087G>C (p.Asp363His) c.574G>C (p.Asp192His) n.37964C>G | |
11 | g.2662035G>T | CA379479663 | KCNQ1,KCNQ1OT1 | c.1111G>T (p.Asp371Tyr) c.928G>T (p.Asp310Tyr) c.1468G>T (p.Asp490Tyr) c.1087G>T (p.Asp363Tyr) c.574G>T (p.Asp192Tyr) n.37964C>A | |
11 | g.2662036A= | CA1948247818 | KCNQ1,KCNQ1OT1 | c.1112A= (p.Asp371=) c.929A= (p.Asp310=) c.1469A= (p.Asp490=) c.1088A= (p.Asp363=) c.575A= (p.Asp192=) n.37963T= | |
11 | g.2662036A>C | CA379479665 | KCNQ1,KCNQ1OT1 | c.1112A>C (p.Asp371Ala) c.929A>C (p.Asp310Ala) c.1469A>C (p.Asp490Ala) c.1088A>C (p.Asp363Ala) c.575A>C (p.Asp192Ala) n.37963T>G | |
11 | g.2662036A>G | CA379479666 | KCNQ1,KCNQ1OT1 | c.1112A>G (p.Asp371Gly) c.929A>G (p.Asp310Gly) c.1469A>G (p.Asp490Gly) c.1088A>G (p.Asp363Gly) c.575A>G (p.Asp192Gly) n.37963T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2662036A>T | CA379479668 | KCNQ1,KCNQ1OT1 | c.1112A>T (p.Asp371Val) c.929A>T (p.Asp310Val) c.1469A>T (p.Asp490Val) c.1088A>T (p.Asp363Val) c.575A>T (p.Asp192Val) n.37963T>A | |
11 | g.2662037C>A | CA379479678 | KCNQ1,KCNQ1OT1 | c.1113C>A (p.Asp371Glu) c.930C>A (p.Asp310Glu) c.1470C>A (p.Asp490Glu) c.1089C>A (p.Asp363Glu) c.576C>A (p.Asp192Glu) n.37962G>T | |
11 | g.2662037C>G | CA379479680 | KCNQ1,KCNQ1OT1 | c.1113C>G (p.Asp371Glu) c.930C>G (p.Asp310Glu) c.1470C>G (p.Asp490Glu) c.1089C>G (p.Asp363Glu) c.576C>G (p.Asp192Glu) n.37962G>C | |
11 | g.2662037C>T | CA472236303 | KCNQ1,KCNQ1OT1 | c.1113C>T (p.Asp371=) c.930C>T (p.Asp310=) c.1470C>T (p.Asp490=) c.1089C>T (p.Asp363=) c.576C>T (p.Asp192=) n.37962G>A | |
11 | g.2662038C>A | CA379479683 | KCNQ1,KCNQ1OT1 | c.1114C>A (p.Leu372Met) c.931C>A (p.Leu311Met) c.1471C>A (p.Leu491Met) c.1090C>A (p.Leu364Met) c.577C>A (p.Leu193Met) n.37961G>T | |
11 | g.2662038C>G | CA379479685 | KCNQ1,KCNQ1OT1 | c.1114C>G (p.Leu372Val) c.931C>G (p.Leu311Val) c.1471C>G (p.Leu491Val) c.1090C>G (p.Leu364Val) c.577C>G (p.Leu193Val) n.37961G>C | |
11 | g.2662038C>T | CA472236304 | KCNQ1,KCNQ1OT1 | c.1114C>T (p.Leu372=) c.931C>T (p.Leu311=) c.1471C>T (p.Leu491=) c.1090C>T (p.Leu364=) c.577C>T (p.Leu193=) n.37961G>A | gnomAD v4 |
11 | g.2662038_2662058del | CA645569427 | KCNQ1,KCNQ1OT1 | c.1114_1134del (p.Leu372_Leu378del) c.931_951del (p.Leu311_Leu317del) c.1471_1491del (p.Leu491_Leu497del) c.1090_1110del (p.Leu364_Leu370del) c.577_597del (p.Leu193_Leu199del) n.37941_37961del | COSMIC COSMIC |
11 | g.2662039T>A | CA379479686 | KCNQ1,KCNQ1OT1 | c.1115T>A (p.Leu372Gln) c.932T>A (p.Leu311Gln) c.1472T>A (p.Leu491Gln) c.1091T>A (p.Leu364Gln) c.578T>A (p.Leu193Gln) n.37960A>T | |
11 | g.2662039T>C | CA379479687 | KCNQ1,KCNQ1OT1 | c.1115T>C (p.Leu372Pro) c.932T>C (p.Leu311Pro) c.1472T>C (p.Leu491Pro) c.1091T>C (p.Leu364Pro) c.578T>C (p.Leu193Pro) n.37960A>G | gnomAD v4 |
11 | g.2662039T>G | CA379479688 | KCNQ1,KCNQ1OT1 | c.1115T>G (p.Leu372Arg) c.932T>G (p.Leu311Arg) c.1472T>G (p.Leu491Arg) c.1091T>G (p.Leu364Arg) c.578T>G (p.Leu193Arg) n.37960A>C | |
11 | g.2662040G>A | CA472236305 | KCNQ1,KCNQ1OT1 | c.1116G>A (p.Leu372=) c.933G>A (p.Leu311=) c.1473G>A (p.Leu491=) c.1092G>A (p.Leu364=) c.579G>A (p.Leu193=) n.37959C>T | |
11 | g.2662040G>C | CA472236306 | KCNQ1,KCNQ1OT1 | c.1116G>C (p.Leu372=) c.933G>C (p.Leu311=) c.1473G>C (p.Leu491=) c.1092G>C (p.Leu364=) c.579G>C (p.Leu193=) n.37959C>G | COSMIC COSMIC |
11 | g.2662040G>T | CA472236307 | KCNQ1,KCNQ1OT1 | c.1116G>T (p.Leu372=) c.933G>T (p.Leu311=) c.1473G>T (p.Leu491=) c.1092G>T (p.Leu364=) c.579G>T (p.Leu193=) n.37959C>A | |
11 | g.2662041G>A | CA379479689 | KCNQ1,KCNQ1OT1 | c.1117G>A (p.Glu373Lys) c.934G>A (p.Glu312Lys) c.1474G>A (p.Glu492Lys) c.1093G>A (p.Glu365Lys) c.580G>A (p.Glu194Lys) n.37958C>T | |
11 | g.2662041G>C | CA379479690 | KCNQ1,KCNQ1OT1 | c.1117G>C (p.Glu373Gln) c.934G>C (p.Glu312Gln) c.1474G>C (p.Glu492Gln) c.1093G>C (p.Glu365Gln) c.580G>C (p.Glu194Gln) n.37958C>G | |
11 | g.2662041G>T | CA379479692 | KCNQ1,KCNQ1OT1 | c.1117G>T (p.Glu373Ter) c.934G>T (p.Glu312Ter) c.1474G>T (p.Glu492Ter) c.1093G>T (p.Glu365Ter) c.580G>T (p.Glu194Ter) n.37958C>A | |
11 | g.2662042A>C | CA379479694 | KCNQ1,KCNQ1OT1 | c.1118A>C (p.Glu373Ala) c.935A>C (p.Glu312Ala) c.1475A>C (p.Glu492Ala) c.1094A>C (p.Glu365Ala) c.581A>C (p.Glu194Ala) n.37957T>G | |
11 | g.2662042A>G | CA379479697 | KCNQ1,KCNQ1OT1 | c.1118A>G (p.Glu373Gly) c.935A>G (p.Glu312Gly) c.1475A>G (p.Glu492Gly) c.1094A>G (p.Glu365Gly) c.581A>G (p.Glu194Gly) n.37957T>C | |
11 | g.2662042A>T | CA379479698 | KCNQ1,KCNQ1OT1 | c.1118A>T (p.Glu373Val) c.935A>T (p.Glu312Val) c.1475A>T (p.Glu492Val) c.1094A>T (p.Glu365Val) c.581A>T (p.Glu194Val) n.37957T>A | |
11 | g.2662043del | CA2697558903 | KCNQ1,KCNQ1OT1 | c.1119del (p.Glu375ArgfsTer4) c.936del (p.Glu314ArgfsTer4) c.1476del (p.Glu494ArgfsTer4) c.1095del (p.Glu367ArgfsTer4) c.582del (p.Glu196ArgfsTer4) n.37957del | ClinVar |
11 | g.2662043A= | CA1948247823 | KCNQ1,KCNQ1OT1 | c.1119A= (p.Glu373=) c.936A= (p.Glu312=) c.1476A= (p.Glu492=) c.1095A= (p.Glu365=) c.582A= (p.Glu194=) n.37956T= | |
11 | g.2662043A>C | CA379479703 | KCNQ1,KCNQ1OT1 | c.1119A>C (p.Glu373Asp) c.936A>C (p.Glu312Asp) c.1476A>C (p.Glu492Asp) c.1095A>C (p.Glu365Asp) c.582A>C (p.Glu194Asp) n.37956T>G | |
11 | g.2662043A>G | CA005791 | KCNQ1,KCNQ1OT1 | c.1119A>G (p.Glu373=) c.936A>G (p.Glu312=) c.1476A>G (p.Glu492=) c.1095A>G (p.Glu365=) c.582A>G (p.Glu194=) n.37956T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662043A>T | CA379479700 | KCNQ1,KCNQ1OT1 | c.1119A>T (p.Glu373Asp) c.936A>T (p.Glu312Asp) c.1476A>T (p.Glu492Asp) c.1095A>T (p.Glu365Asp) c.582A>T (p.Glu194Asp) n.37956T>A | |
11 | g.2662044G>A | CA379479708 | KCNQ1,KCNQ1OT1 | c.1120G>A (p.Gly374Arg) c.937G>A (p.Gly313Arg) c.1477G>A (p.Gly493Arg) c.1096G>A (p.Gly366Arg) c.583G>A (p.Gly195Arg) n.37955C>T | |
11 | g.2662044G>C | CA379479709 | KCNQ1,KCNQ1OT1 | c.1120G>C (p.Gly374Arg) c.937G>C (p.Gly313Arg) c.1477G>C (p.Gly493Arg) c.1096G>C (p.Gly366Arg) c.583G>C (p.Gly195Arg) n.37955C>G | |
11 | g.2662044G>T | CA379479711 | KCNQ1,KCNQ1OT1 | c.1120G>T (p.Gly374Trp) c.937G>T (p.Gly313Trp) c.1477G>T (p.Gly493Trp) c.1096G>T (p.Gly366Trp) c.583G>T (p.Gly195Trp) n.37955C>A | |
11 | g.2662047dup | CA10575753 | KCNQ1,KCNQ1OT1 | c.1123dup (p.Glu375GlyfsTer22) c.940dup (p.Glu314GlyfsTer22) c.1480dup (p.Glu494GlyfsTer22) c.1099dup (p.Glu367GlyfsTer22) c.586dup (p.Glu196GlyfsTer22) n.37955dup | ClinVar dbSNP |
11 | g.2662045G>A | CA379479713 | KCNQ1,KCNQ1OT1 | c.1121G>A (p.Gly374Glu) c.938G>A (p.Gly313Glu) c.1478G>A (p.Gly493Glu) c.1097G>A (p.Gly366Glu) c.584G>A (p.Gly195Glu) n.37954C>T | ClinVar |
11 | g.2662045G>C | CA030046 | KCNQ1,KCNQ1OT1 | c.1121G>C (p.Gly374Ala) c.938G>C (p.Gly313Ala) c.1478G>C (p.Gly493Ala) c.1097G>C (p.Gly366Ala) c.584G>C (p.Gly195Ala) n.37954C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2662045G= | CA1948247835 | KCNQ1,KCNQ1OT1 | c.1121G= (p.Gly374=) c.938G= (p.Gly313=) c.1478G= (p.Gly493=) c.1097G= (p.Gly366=) c.584G= (p.Gly195=) n.37954C= | |
11 | g.2662045G>T | CA379479717 | KCNQ1,KCNQ1OT1 | c.1121G>T (p.Gly374Val) c.938G>T (p.Gly313Val) c.1478G>T (p.Gly493Val) c.1097G>T (p.Gly366Val) c.584G>T (p.Gly195Val) n.37954C>A | |
11 | g.2662046G>A | CA472236310 | KCNQ1,KCNQ1OT1 | c.1122G>A (p.Gly374=) c.939G>A (p.Gly313=) c.1479G>A (p.Gly493=) c.1098G>A (p.Gly366=) c.585G>A (p.Gly195=) n.37953C>T | |
11 | g.2662046G>C | CA472236308 | KCNQ1,KCNQ1OT1 | c.1122G>C (p.Gly374=) c.939G>C (p.Gly313=) c.1479G>C (p.Gly493=) c.1098G>C (p.Gly366=) c.585G>C (p.Gly195=) n.37953C>G | |
11 | g.2662046G>T | CA472236309 | KCNQ1,KCNQ1OT1 | c.1122G>T (p.Gly374=) c.939G>T (p.Gly313=) c.1479G>T (p.Gly493=) c.1098G>T (p.Gly366=) c.585G>T (p.Gly195=) n.37953C>A | |
11 | g.2662047G>A | CA379479720 | KCNQ1,KCNQ1OT1 | c.1123G>A (p.Glu375Lys) c.940G>A (p.Glu314Lys) c.1480G>A (p.Glu494Lys) c.1099G>A (p.Glu367Lys) c.586G>A (p.Glu196Lys) n.37952C>T | |
11 | g.2662047G>C | CA379479718 | KCNQ1,KCNQ1OT1 | c.1123G>C (p.Glu375Gln) c.940G>C (p.Glu314Gln) c.1480G>C (p.Glu494Gln) c.1099G>C (p.Glu367Gln) c.586G>C (p.Glu196Gln) n.37952C>G | |
11 | g.2662047G>T | CA379479719 | KCNQ1,KCNQ1OT1 | c.1123G>T (p.Glu375Ter) c.940G>T (p.Glu314Ter) c.1480G>T (p.Glu494Ter) c.1099G>T (p.Glu367Ter) c.586G>T (p.Glu196Ter) n.37952C>A | ClinVar gnomAD v4 |