Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2445166_2445228del | CA2611999930 | KCNQ1 | c.24-217_24-155del (n.24-217_24-155del) c.68_130del (p.Ala23_Gly43del) | gnomAD v4 |
11 | g.2445173_2445270del | CA2790193839 | KCNQ1 | c.24-210_24-113del (n.24-210_24-113del) c.75_172del (p.Gly26ProfsTer?) | |
11 | g.2445175_2445238del | CA2611999932 | KCNQ1 | c.24-208_24-145del (n.24-208_24-145del) c.77_140del (p.Gly26AlafsTer?) | gnomAD v4 |
11 | g.2445194G>A | CA216292546 | KCNQ1 | c.24-189G>A (n.24-189G>A) c.96G>A (p.Lys32=) | dbSNP gnomAD v4 |
11 | g.2445194G>C | CA379116151 | KCNQ1 | c.24-189G>C (n.24-189G>C) c.96G>C (p.Lys32Asn) | gnomAD v4 |
11 | g.2445194G= | CA1948160864 | KCNQ1 | c.24-189G= (n.24-189G=) c.96G= (p.Lys32=) | |
11 | g.2445194G>T | CA379116153 | KCNQ1 | c.24-189G>T (n.24-189G>T) c.96G>T (p.Lys32Asn) | gnomAD v4 |
11 | g.2445195A>C | CA379116155 | KCNQ1 | c.24-188A>C (n.24-188A>C) c.97A>C (p.Lys33Gln) | |
11 | g.2445195A>G | CA379116157 | KCNQ1 | c.24-188A>G (n.24-188A>G) c.97A>G (p.Lys33Glu) | gnomAD v4 |
11 | g.2445195A>T | CA379116159 | KCNQ1 | c.24-188A>T (n.24-188A>T) c.97A>T (p.Lys33Ter) | gnomAD v4 |
11 | g.2445196A= | CA1948160865 | KCNQ1 | c.24-187A= (n.24-187A=) c.98A= (p.Lys33=) | |
11 | g.2445196A>C | CA379116161 | KCNQ1 | c.24-187A>C (n.24-187A>C) c.98A>C (p.Lys33Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445196A>G | CA379116162 | KCNQ1 | c.24-187A>G (n.24-187A>G) c.98A>G (p.Lys33Arg) | gnomAD v4 |
11 | g.2445196A>T | CA379116164 | KCNQ1 | c.24-187A>T (n.24-187A>T) c.98A>T (p.Lys33Met) | |
11 | g.2445197G>A | CA216292551 | KCNQ1 | c.24-186G>A (n.24-186G>A) c.99G>A (p.Lys33=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445197G>C | CA379116167 | KCNQ1 | c.24-186G>C (n.24-186G>C) c.99G>C (p.Lys33Asn) | gnomAD v4 |
11 | g.2445197G= | CA1948160866 | KCNQ1 | c.24-186G= (n.24-186G=) c.99G= (p.Lys33=) | |
11 | g.2445197G>T | CA379116169 | KCNQ1 | c.24-186G>T (n.24-186G>T) c.99G>T (p.Lys33Asn) | gnomAD v4 |
11 | g.2445198T>A | CA379116175 | KCNQ1 | c.24-185T>A (n.24-185T>A) c.100T>A (p.Cys34Ser) | gnomAD v4 |
11 | g.2445198T>C | CA379116173 | KCNQ1 | c.24-185T>C (n.24-185T>C) c.100T>C (p.Cys34Arg) | gnomAD v4 |
11 | g.2445198T>G | CA379116172 | KCNQ1 | c.24-185T>G (n.24-185T>G) c.100T>G (p.Cys34Gly) | |
11 | g.2445199G>A | CA379116178 | KCNQ1 | c.24-184G>A (n.24-184G>A) c.101G>A (p.Cys34Tyr) | gnomAD v4 |
11 | g.2445199G>C | CA379116181 | KCNQ1 | c.24-184G>C (n.24-184G>C) c.101G>C (p.Cys34Ser) | gnomAD v4 |
11 | g.2445199G>T | CA379116179 | KCNQ1 | c.24-184G>T (n.24-184G>T) c.101G>T (p.Cys34Phe) | gnomAD v4 |
11 | g.2445200C>A | CA216292555 | KCNQ1 | c.24-183C>A (n.24-183C>A) c.102C>A (p.Cys34Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445200C= | CA1948160867 | KCNQ1 | c.24-183C= (n.24-183C=) c.102C= (p.Cys34=) | |
11 | g.2445200C>G | CA379116185 | KCNQ1 | c.24-183C>G (n.24-183C>G) c.102C>G (p.Cys34Trp) | gnomAD v4 |
11 | g.2445200C>T | CA472415685 | KCNQ1 | c.24-183C>T (n.24-183C>T) c.102C>T (p.Cys34=) | gnomAD v4 |
11 | g.2445203del | CA2611999944 | KCNQ1 | c.24-180del (n.24-180del) c.105del (p.Phe36SerfsTer?) | gnomAD v4 |
11 | g.2445201C>A | CA379116187 | KCNQ1 | c.24-182C>A (n.24-182C>A) c.103C>A (p.Pro35Thr) | gnomAD v4 |
11 | g.2445201C>G | CA379116188 | KCNQ1 | c.24-182C>G (n.24-182C>G) c.103C>G (p.Pro35Ala) | gnomAD v4 |
11 | g.2445201C>T | CA379116190 | KCNQ1 | c.24-182C>T (n.24-182C>T) c.103C>T (p.Pro35Ser) | gnomAD v4 |
11 | g.2445202C>A | CA379116192 | KCNQ1 | c.24-181C>A (n.24-181C>A) c.104C>A (p.Pro35His) | gnomAD v4 |
11 | g.2445202C= | CA1948160868 | KCNQ1 | c.24-181C= (n.24-181C=) c.104C= (p.Pro35=) | |
11 | g.2445202C>G | CA379116194 | KCNQ1 | c.24-181C>G (n.24-181C>G) c.104C>G (p.Pro35Arg) | ClinVar gnomAD v4 |
11 | g.2445202C>T | CA379116196 | KCNQ1 | c.24-181C>T (n.24-181C>T) c.104C>T (p.Pro35Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445203C>A | CA16605885 | KCNQ1 | c.24-180C>A (n.24-180C>A) c.105C>A (p.Pro35=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445203C= | CA1948160869 | KCNQ1 | c.24-180C= (n.24-180C=) c.105C= (p.Pro35=) | |
11 | g.2445203C>G | CA472415686 | KCNQ1 | c.24-180C>G (n.24-180C>G) c.105C>G (p.Pro35=) | gnomAD v4 |
11 | g.2445203C>T | CA472415687 | KCNQ1 | c.24-180C>T (n.24-180C>T) c.105C>T (p.Pro35=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445204T>A | CA379116198 | KCNQ1 | c.24-179T>A (n.24-179T>A) c.106T>A (p.Phe36Ile) | gnomAD v4 |
11 | g.2445204T>C | CA379116199 | KCNQ1 | c.24-179T>C (n.24-179T>C) c.106T>C (p.Phe36Leu) | gnomAD v4 |
11 | g.2445204T>G | CA379116200 | KCNQ1 | c.24-179T>G (n.24-179T>G) c.106T>G (p.Phe36Val) | |
11 | g.2445205dup | CA2580082595 | KCNQ1 | c.24-178dup (n.24-178dup) c.107dup (p.Ser37LeufsTer?) | ClinVar |
11 | g.2445205del | CA2611999945 | KCNQ1 | c.24-178del (n.24-178del) c.107del (p.Phe36SerfsTer?) | gnomAD v4 |
11 | g.2445205T>A | CA379116201 | KCNQ1 | c.24-178T>A (n.24-178T>A) c.107T>A (p.Phe36Tyr) | |
11 | g.2445205T>C | CA379116202 | KCNQ1 | c.24-178T>C (n.24-178T>C) c.107T>C (p.Phe36Ser) | gnomAD v4 |
11 | g.2445205T>G | CA379116203 | KCNQ1 | c.24-178T>G (n.24-178T>G) c.107T>G (p.Phe36Cys) | |
11 | g.2445206C>A | CA379116205 | KCNQ1 | c.24-177C>A (n.24-177C>A) c.108C>A (p.Phe36Leu) | gnomAD v4 |
11 | g.2445206C= | CA1948160870 | KCNQ1 | c.24-177C= (n.24-177C=) c.108C= (p.Phe36=) | |
11 | g.2445206C>G | CA379116204 | KCNQ1 | c.24-177C>G (n.24-177C>G) c.108C>G (p.Phe36Leu) | gnomAD v4 |
11 | g.2445206C>T | CA472415693 | KCNQ1 | c.24-177C>T (n.24-177C>T) c.108C>T (p.Phe36=) | dbSNP gnomAD v4 |
11 | g.2445207T>A | CA379116206 | KCNQ1 | c.24-176T>A (n.24-176T>A) c.109T>A (p.Ser37Thr) | gnomAD v4 |
11 | g.2445207T>C | CA379116208 | KCNQ1 | c.24-176T>C (n.24-176T>C) c.109T>C (p.Ser37Pro) | gnomAD v4 |
11 | g.2445207T>G | CA379116210 | KCNQ1 | c.24-176T>G (n.24-176T>G) c.109T>G (p.Ser37Ala) | |
11 | g.2445208C>A | CA379116212 | KCNQ1 | c.24-175C>A (n.24-175C>A) c.110C>A (p.Ser37Ter) | gnomAD v4 |
11 | g.2445208C>G | CA379116215 | KCNQ1 | c.24-175C>G (n.24-175C>G) c.110C>G (p.Ser37Trp) | |
11 | g.2445208C>T | CA379116216 | KCNQ1 | c.24-175C>T (n.24-175C>T) c.110C>T (p.Ser37Leu) | gnomAD v4 |
11 | g.2445209G>A | CA472415694 | KCNQ1 | c.24-174G>A (n.24-174G>A) c.111G>A (p.Ser37=) | gnomAD v4 |
11 | g.2445209G>C | CA027109 | KCNQ1 | c.24-174G>C (n.24-174G>C) c.111G>C (p.Ser37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445209G= | CA1948160871 | KCNQ1 | c.24-174G= (n.24-174G=) c.111G= (p.Ser37=) | |
11 | g.2445209G>T | CA472415695 | KCNQ1 | c.24-174G>T (n.24-174G>T) c.111G>T (p.Ser37=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445210C>A | CA379116220 | KCNQ1 | c.24-173C>A (n.24-173C>A) c.112C>A (p.Leu38Met) | gnomAD v4 |
11 | g.2445210C= | CA1948160872 | KCNQ1 | c.24-173C= (n.24-173C=) c.112C= (p.Leu38=) | |
11 | g.2445210C>G | CA379116221 | KCNQ1 | c.24-173C>G (n.24-173C>G) c.112C>G (p.Leu38Val) | |
11 | g.2445210C>T | CA472415697 | KCNQ1 | c.24-173C>T (n.24-173C>T) c.112C>T (p.Leu38=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445210_2445211del | CA2790193872 | KCNQ1 | c.24-173_24-172del (n.24-173_24-172del) c.112_113del (p.Leu38GlyfsTer?) | |
11 | g.2445211T>A | CA379116223 | KCNQ1 | c.24-172T>A (n.24-172T>A) c.113T>A (p.Leu38Gln) | gnomAD v4 |
11 | g.2445211T>C | CA379116225 | KCNQ1 | c.24-172T>C (n.24-172T>C) c.113T>C (p.Leu38Pro) | gnomAD v4 |
11 | g.2445211T>G | CA379116227 | KCNQ1 | c.24-172T>G (n.24-172T>G) c.113T>G (p.Leu38Arg) | gnomAD v4 |
11 | g.2445212G>A | CA472415698 | KCNQ1 | c.24-171G>A (n.24-171G>A) c.114G>A (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445212G>C | CA472415699 | KCNQ1 | c.24-171G>C (n.24-171G>C) c.114G>C (p.Leu38=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445212G= | CA1948160873 | KCNQ1 | c.24-171G= (n.24-171G=) c.114G= (p.Leu38=) | |
11 | g.2445212G>T | CA472415700 | KCNQ1 | c.24-171G>T (n.24-171G>T) c.114G>T (p.Leu38=) | gnomAD v4 |
11 | g.2445213del | CA2611999946 | KCNQ1 | c.24-170del (n.24-170del) c.115del (p.Glu39SerfsTer?) | gnomAD v4 |
11 | g.2445213G>A | CA379116231 | KCNQ1 | c.24-170G>A (n.24-170G>A) c.115G>A (p.Glu39Lys) | gnomAD v4 |
11 | g.2445213G>C | CA379116233 | KCNQ1 | c.24-170G>C (n.24-170G>C) c.115G>C (p.Glu39Gln) | gnomAD v4 |
11 | g.2445213G= | CA1948160874 | KCNQ1 | c.24-170G= (n.24-170G=) c.115G= (p.Glu39=) | |
11 | g.2445213G>T | CA379116229 | KCNQ1 | c.24-170G>T (n.24-170G>T) c.115G>T (p.Glu39Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445214A>C | CA379116235 | KCNQ1 | c.24-169A>C (n.24-169A>C) c.116A>C (p.Glu39Ala) | |
11 | g.2445214A>G | CA379116237 | KCNQ1 | c.24-169A>G (n.24-169A>G) c.116A>G (p.Glu39Gly) | gnomAD v4 |
11 | g.2445214A>T | CA379116238 | KCNQ1 | c.24-169A>T (n.24-169A>T) c.116A>T (p.Glu39Val) | |
11 | g.2445215G>A | CA216292562 | KCNQ1 | c.24-168G>A (n.24-168G>A) c.117G>A (p.Glu39=) | dbSNP gnomAD v4 |
11 | g.2445215G>C | CA379116242 | KCNQ1 | c.24-168G>C (n.24-168G>C) c.117G>C (p.Glu39Asp) | |
11 | g.2445215G= | CA1948160875 | KCNQ1 | c.24-168G= (n.24-168G=) c.117G= (p.Glu39=) | |
11 | g.2445215G>T | CA379116243 | KCNQ1 | c.24-168G>T (n.24-168G>T) c.117G>T (p.Glu39Asp) | gnomAD v4 |
11 | g.2445216C>A | CA379116248 | KCNQ1 | c.24-167C>A (n.24-167C>A) c.118C>A (p.Leu40Met) | gnomAD v4 |
11 | g.2445216C>G | CA379116247 | KCNQ1 | c.24-167C>G (n.24-167C>G) c.118C>G (p.Leu40Val) | gnomAD v4 |
11 | g.2445216C>T | CA472415704 | KCNQ1 | c.24-167C>T (n.24-167C>T) c.118C>T (p.Leu40=) | gnomAD v4 |
11 | g.2445217T>A | CA379116251 | KCNQ1 | c.24-166T>A (n.24-166T>A) c.119T>A (p.Leu40Gln) | |
11 | g.2445217T>C | CA379116253 | KCNQ1 | c.24-166T>C (n.24-166T>C) c.119T>C (p.Leu40Pro) | gnomAD v4 |
11 | g.2445217T>G | CA379116254 | KCNQ1 | c.24-166T>G (n.24-166T>G) c.119T>G (p.Leu40Arg) | gnomAD v4 |
11 | g.2445217_2445222del | CA2574728027 | KCNQ1 | c.24-166_24-161del (n.24-166_24-161del) c.119_124del (p.Leu40_Glu42delinsGln) | |
11 | g.2445218G>A | CA472415708 | KCNQ1 | c.24-165G>A (n.24-165G>A) c.120G>A (p.Leu40=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445218G>C | CA472415709 | KCNQ1 | c.24-165G>C (n.24-165G>C) c.120G>C (p.Leu40=) | gnomAD v4 |
11 | g.2445218G= | CA1948160876 | KCNQ1 | c.24-165G= (n.24-165G=) c.120G= (p.Leu40=) | |
11 | g.2445218G>T | CA472415710 | KCNQ1 | c.24-165G>T (n.24-165G>T) c.120G>T (p.Leu40=) | gnomAD v4 |
11 | g.2445219del | CA2611999948 | KCNQ1 | c.24-164del (n.24-164del) c.121del (p.Ala41ArgfsTer?) | gnomAD v4 |
11 | g.2445220_2445222del | CA2611999949 | KCNQ1 | c.24-163_24-161del (n.24-163_24-161del) c.122_124del (p.Ala41del) | gnomAD v4 |
11 | g.2445219G>A | CA379116257 | KCNQ1 | c.24-164G>A (n.24-164G>A) c.121G>A (p.Ala41Thr) | gnomAD v4 |
11 | g.2445219G>C | CA379116259 | KCNQ1 | c.24-164G>C (n.24-164G>C) c.121G>C (p.Ala41Pro) | gnomAD v4 |
11 | g.2445219G>T | CA379116261 | KCNQ1 | c.24-164G>T (n.24-164G>T) c.121G>T (p.Ala41Ser) | gnomAD v4 |
11 | g.2445220_2445221del | CA2611999950 | KCNQ1 | c.24-163_24-162del (n.24-163_24-162del) c.122_123del (p.Ala41GlyfsTer?) | gnomAD v4 |
11 | g.2445220del | CA2611999951 | KCNQ1 | c.24-163del (n.24-163del) c.122del (p.Ala41GlyfsTer?) | gnomAD v4 |
11 | g.2445220C>A | CA379116263 | KCNQ1 | c.24-163C>A (n.24-163C>A) c.122C>A (p.Ala41Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445220C= | CA1948160877 | KCNQ1 | c.24-163C= (n.24-163C=) c.122C= (p.Ala41=) | |
11 | g.2445220C>G | CA379116267 | KCNQ1 | c.24-163C>G (n.24-163C>G) c.122C>G (p.Ala41Gly) | gnomAD v4 |
11 | g.2445220C>T | CA379116265 | KCNQ1 | c.24-163C>T (n.24-163C>T) c.122C>T (p.Ala41Val) | gnomAD v4 |
11 | g.2445221G>A | CA472415714 | KCNQ1 | c.24-162G>A (n.24-162G>A) c.123G>A (p.Ala41=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445221G>C | CA472415716 | KCNQ1 | c.24-162G>C (n.24-162G>C) c.123G>C (p.Ala41=) | |
11 | g.2445221G= | CA1948160878 | KCNQ1 | c.24-162G= (n.24-162G=) c.123G= (p.Ala41=) | |
11 | g.2445221G>T | CA472415715 | KCNQ1 | c.24-162G>T (n.24-162G>T) c.123G>T (p.Ala41=) | gnomAD v4 |
11 | g.2445222G>A | CA379116269 | KCNQ1 | c.24-161G>A (n.24-161G>A) c.124G>A (p.Glu42Lys) | gnomAD v4 |
11 | g.2445222G>C | CA379116271 | KCNQ1 | c.24-161G>C (n.24-161G>C) c.124G>C (p.Glu42Gln) | gnomAD v4 |
11 | g.2445222G= | CA1948160879 | KCNQ1 | c.24-161G= (n.24-161G=) c.124G= (p.Glu42=) | |
11 | g.2445222G>T | CA379116274 | KCNQ1 | c.24-161G>T (n.24-161G>T) c.124G>T (p.Glu42Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445223del | CA2611999952 | KCNQ1 | c.24-160del (n.24-160del) c.125del (p.Glu42GlyfsTer?) | gnomAD v4 |
11 | g.2445223A>C | CA379116276 | KCNQ1 | c.24-160A>C (n.24-160A>C) c.125A>C (p.Glu42Ala) | gnomAD v4 |
11 | g.2445223A>G | CA379116277 | KCNQ1 | c.24-160A>G (n.24-160A>G) c.125A>G (p.Glu42Gly) | gnomAD v4 |
11 | g.2445223A>T | CA379116280 | KCNQ1 | c.24-160A>T (n.24-160A>T) c.125A>T (p.Glu42Val) | gnomAD v4 |
11 | g.2445224G>A | CA472415720 | KCNQ1 | c.24-159G>A (n.24-159G>A) c.126G>A (p.Glu42=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445224G>C | CA379116282 | KCNQ1 | c.24-159G>C (n.24-159G>C) c.126G>C (p.Glu42Asp) | gnomAD v4 |
11 | g.2445224G= | CA1948160880 | KCNQ1 | c.24-159G= (n.24-159G=) c.126G= (p.Glu42=) | |
11 | g.2445224G>T | CA379116283 | KCNQ1 | c.24-159G>T (n.24-159G>T) c.126G>T (p.Glu42Asp) | gnomAD v4 |
11 | g.2445226del | CA2611999953 | KCNQ1 | c.24-157del (n.24-157del) c.128del (p.Gly43AlafsTer?) | gnomAD v4 |
11 | g.2445231_2445242del | CA2611999954 | KCNQ1 | c.24-152_24-141del (n.24-152_24-141del) c.133_144del (p.Pro45_Gly48del) | gnomAD v4 |
11 | g.2445225G>A | CA379116286 | KCNQ1 | c.24-158G>A (n.24-158G>A) c.127G>A (p.Gly43Ser) | gnomAD v4 |
11 | g.2445225G>C | CA379116288 | KCNQ1 | c.24-158G>C (n.24-158G>C) c.127G>C (p.Gly43Arg) | |
11 | g.2445225G>T | CA379116289 | KCNQ1 | c.24-158G>T (n.24-158G>T) c.127G>T (p.Gly43Cys) | gnomAD v4 |
11 | g.2445226G>A | CA379116295 | KCNQ1 | c.24-157G>A (n.24-157G>A) c.128G>A (p.Gly43Asp) | gnomAD v4 |
11 | g.2445226G>C | CA379116293 | KCNQ1 | c.24-157G>C (n.24-157G>C) c.128G>C (p.Gly43Ala) | gnomAD v4 |
11 | g.2445226G>T | CA379116291 | KCNQ1 | c.24-157G>T (n.24-157G>T) c.128G>T (p.Gly43Val) | gnomAD v4 |
11 | g.2445227_2445228del | CA2611999955 | KCNQ1 | c.24-156_24-155del (n.24-156_24-155del) c.129_130del (p.Gly44ProfsTer?) | gnomAD v4 |
11 | g.2445227del | CA2611999956 | KCNQ1 | c.24-156del (n.24-156del) c.129del (p.Gly44AlafsTer?) | gnomAD v4 |
11 | g.2445227C>A | CA472415725 | KCNQ1 | c.24-156C>A (n.24-156C>A) c.129C>A (p.Gly43=) | gnomAD v4 COSMIC |
11 | g.2445227C= | CA1948160881 | KCNQ1 | c.24-156C= (n.24-156C=) c.129C= (p.Gly43=) | |
11 | g.2445227C>G | CA472415726 | KCNQ1 | c.24-156C>G (n.24-156C>G) c.129C>G (p.Gly43=) | gnomAD v4 |
11 | g.2445227C>T | CA16605886 | KCNQ1 | c.24-156C>T (n.24-156C>T) c.129C>T (p.Gly43=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445228G>A | CA379116296 | KCNQ1 | c.24-155G>A (n.24-155G>A) c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.2445228G>C | CA379116298 | KCNQ1 | c.24-155G>C (n.24-155G>C) c.130G>C (p.Gly44Arg) | ClinVar |
11 | g.2445228G= | CA1948160882 | KCNQ1 | c.24-155G= (n.24-155G=) c.130G= (p.Gly44=) | |
11 | g.2445228G>T | CA379116299 | KCNQ1 | c.24-155G>T (n.24-155G>T) c.130G>T (p.Gly44Cys) | gnomAD v4 |
11 | g.2445234_2445341del | CA2611999957 | KCNQ1 | c.24-149_24-42del (n.24-149_24-42del) c.136_243del (p.Ala46_Pro81del) | gnomAD v4 |
11 | g.2445229G>A | CA379116302 | KCNQ1 | c.24-154G>A (n.24-154G>A) c.131G>A (p.Gly44Asp) | dbSNP gnomAD v4 |
11 | g.2445229G>C | CA379116303 | KCNQ1 | c.24-154G>C (n.24-154G>C) c.131G>C (p.Gly44Ala) | gnomAD v4 |
11 | g.2445229G= | CA1948160884 | KCNQ1 | c.24-154G= (n.24-154G=) c.131G= (p.Gly44=) | |
11 | g.2445229G>T | CA379116305 | KCNQ1 | c.24-154G>T (n.24-154G>T) c.131G>T (p.Gly44Val) | dbSNP gnomAD v4 |
11 | g.2445229_2445271delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC | CA1948160883 | KCNQ1 | c.24-154_24-112delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC (n.24-154_24-112delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC) c.131_173delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC (p.Gly44=) | |
11 | g.2445230C>A | CA472415732 | KCNQ1 | c.24-153C>A (n.24-153C>A) c.132C>A (p.Gly44=) | gnomAD v4 |
11 | g.2445230C>G | CA472415733 | KCNQ1 | c.24-153C>G (n.24-153C>G) c.132C>G (p.Gly44=) | gnomAD v4 |
11 | g.2445230C>T | CA472415735 | KCNQ1 | c.24-153C>T (n.24-153C>T) c.132C>T (p.Gly44=) | gnomAD v4 |
11 | g.2445232del | CA913188336 | KCNQ1 | c.24-151del (n.24-151del) c.134del (p.Pro45ArgfsTer?) | gnomAD v4 |
11 | g.2445231_2445232del | CA2611999958 | KCNQ1 | c.24-152_24-151del (n.24-152_24-151del) c.133_134del (p.Pro45GlyfsTer?) | gnomAD v4 |
11 | g.2445233_2445274del | CA674858310 | KCNQ1 | c.24-150_24-109del (n.24-150_24-109del) c.135_176del (p.Ala46_Pro59del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445231C>A | CA379116312 | KCNQ1 | c.24-152C>A (n.24-152C>A) c.133C>A (p.Pro45Thr) | gnomAD v4 |
11 | g.2445231C= | CA1948160885 | KCNQ1 | c.24-152C= (n.24-152C=) c.133C= (p.Pro45=) | |
11 | g.2445231C>G | CA379116310 | KCNQ1 | c.24-152C>G (n.24-152C>G) c.133C>G (p.Pro45Ala) | gnomAD v4 |
11 | g.2445231C>T | CA379116308 | KCNQ1 | c.24-152C>T (n.24-152C>T) c.133C>T (p.Pro45Ser) | gnomAD v4 |
11 | g.2445232C>A | CA379116314 | KCNQ1 | c.24-151C>A (n.24-151C>A) c.134C>A (p.Pro45Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445232C= | CA1948160886 | KCNQ1 | c.24-151C= (n.24-151C=) c.134C= (p.Pro45=) | |
11 | g.2445232C>G | CA379116316 | KCNQ1 | c.24-151C>G (n.24-151C>G) c.134C>G (p.Pro45Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.2445232C>T | CA379116318 | KCNQ1 | c.24-151C>T (n.24-151C>T) c.134C>T (p.Pro45Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445237_2445243dup | CA16619304 | KCNQ1 | c.24-146_24-140dup (n.24-146_24-140dup) c.139_145dup (p.Ala49GlyfsTer?) | ClinVar dbSNP |
11 | g.2445234_2445245dup | CA2580082596 | KCNQ1 | c.24-149_24-138dup (n.24-149_24-138dup) c.136_147dup (p.Ala49_Leu50insAlaGlyGlyAla) | ClinVar |
11 | g.2445233G>A | CA472415736 | KCNQ1 | c.24-150G>A (n.24-150G>A) c.135G>A (p.Pro45=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445233G>C | CA472415737 | KCNQ1 | c.24-150G>C (n.24-150G>C) c.135G>C (p.Pro45=) | ClinVar |
11 | g.2445233G= | CA1948160887 | KCNQ1 | c.24-150G= (n.24-150G=) c.135G= (p.Pro45=) | |
11 | g.2445233G>T | CA472415738 | KCNQ1 | c.24-150G>T (n.24-150G>T) c.135G>T (p.Pro45=) | gnomAD v4 |
11 | g.2445233_2445234del | CA2611999959 | KCNQ1 | c.24-150_24-149del (n.24-150_24-149del) c.135_136del (p.Ala46GlyfsTer?) | gnomAD v4 |
11 | g.2445234G>A | CA005701 | KCNQ1 | c.24-149G>A (n.24-149G>A) c.136G>A (p.Ala46Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445234G>C | CA379116319 | KCNQ1 | c.24-149G>C (n.24-149G>C) c.136G>C (p.Ala46Pro) | |
11 | g.2445234G= | CA1948160888 | KCNQ1 | c.24-149G= (n.24-149G=) c.136G= (p.Ala46=) | |
11 | g.2445234G>T | CA379116321 | KCNQ1 | c.24-149G>T (n.24-149G>T) c.136G>T (p.Ala46Ser) | gnomAD v4 |
11 | g.2445237_2445263del | CA2611999960 | KCNQ1 | c.24-146_24-120del (n.24-146_24-120del) c.139_165del (p.Gly47_Ala55del) | gnomAD v4 |
11 | g.2445235del | CA2611999961 | KCNQ1 | c.24-148del (n.24-148del) c.137del (p.Ala46GlyfsTer?) | gnomAD v4 |
11 | g.2445235C>A | CA379116323 | KCNQ1 | c.24-148C>A (n.24-148C>A) c.137C>A (p.Ala46Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445235C= | CA1948160889 | KCNQ1 | c.24-148C= (n.24-148C=) c.137C= (p.Ala46=) | |
11 | g.2445235C>G | CA379116326 | KCNQ1 | c.24-148C>G (n.24-148C>G) c.137C>G (p.Ala46Gly) | gnomAD v4 |
11 | g.2445235C>T | CA379116324 | KCNQ1 | c.24-148C>T (n.24-148C>T) c.137C>T (p.Ala46Val) | gnomAD v4 |
11 | g.2445236G>A | CA472415745 | KCNQ1 | c.24-147G>A (n.24-147G>A) c.138G>A (p.Ala46=) | gnomAD v4 |
11 | g.2445236G>C | CA472415743 | KCNQ1 | c.24-147G>C (n.24-147G>C) c.138G>C (p.Ala46=) | |
11 | g.2445236G>T | CA472415744 | KCNQ1 | c.24-147G>T (n.24-147G>T) c.138G>T (p.Ala46=) | gnomAD v4 |
11 | g.2445238del | CA2611999962 | KCNQ1 | c.24-145del (n.24-145del) c.140del (p.Gly47AlafsTer?) | gnomAD v4 |
11 | g.2445237G>A | CA379116329 | KCNQ1 | c.24-146G>A (n.24-146G>A) c.139G>A (p.Gly47Ser) | gnomAD v4 |
11 | g.2445237G>C | CA379116330 | KCNQ1 | c.24-146G>C (n.24-146G>C) c.139G>C (p.Gly47Arg) | |
11 | g.2445237G= | CA1948160890 | KCNQ1 | c.24-146G= (n.24-146G=) c.139G= (p.Gly47=) | |
11 | g.2445237G>T | CA216292573 | KCNQ1 | c.24-146G>T (n.24-146G>T) c.139G>T (p.Gly47Cys) | dbSNP gnomAD v4 |
11 | g.2445238G>A | CA379116333 | KCNQ1 | c.24-145G>A (n.24-145G>A) c.140G>A (p.Gly47Asp) | gnomAD v4 |
11 | g.2445238G>C | CA379116335 | KCNQ1 | c.24-145G>C (n.24-145G>C) c.140G>C (p.Gly47Ala) | gnomAD v4 |
11 | g.2445238G>T | CA379116336 | KCNQ1 | c.24-145G>T (n.24-145G>T) c.140G>T (p.Gly47Val) | gnomAD v4 |
11 | g.2445239del | CA2611999963 | KCNQ1 | c.24-144del (n.24-144del) c.141del (p.Gly48AlafsTer?) | gnomAD v4 |
11 | g.2445239C>A | CA472415749 | KCNQ1 | c.24-144C>A (n.24-144C>A) c.141C>A (p.Gly47=) | gnomAD v4 |
11 | g.2445239C= | CA1948160891 | KCNQ1 | c.24-144C= (n.24-144C=) c.141C= (p.Gly47=) | |
11 | g.2445239C>G | CA472415750 | KCNQ1 | c.24-144C>G (n.24-144C>G) c.141C>G (p.Gly47=) | gnomAD v4 |
11 | g.2445239C>T | CA472415751 | KCNQ1 | c.24-144C>T (n.24-144C>T) c.141C>T (p.Gly47=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445240G>A | CA379116338 | KCNQ1 | c.24-143G>A (n.24-143G>A) c.142G>A (p.Gly48Ser) | gnomAD v4 |
11 | g.2445240G>C | CA379116340 | KCNQ1 | c.24-143G>C (n.24-143G>C) c.142G>C (p.Gly48Arg) | |
11 | g.2445240G>T | CA379116342 | KCNQ1 | c.24-143G>T (n.24-143G>T) c.142G>T (p.Gly48Cys) | gnomAD v4 |
11 | g.2445241G>A | CA379116344 | KCNQ1 | c.24-142G>A (n.24-142G>A) c.143G>A (p.Gly48Asp) | gnomAD v4 |
11 | g.2445241G>C | CA379116346 | KCNQ1 | c.24-142G>C (n.24-142G>C) c.143G>C (p.Gly48Ala) | gnomAD v4 |
11 | g.2445241G>T | CA379116347 | KCNQ1 | c.24-142G>T (n.24-142G>T) c.143G>T (p.Gly48Val) | gnomAD v4 |
11 | g.2445245_2445246del | CA2790193913 | KCNQ1 | c.24-138_24-137del (n.24-138_24-137del) c.147_148del (p.Tyr51ArgfsTer?) | |
11 | g.2445242C>A | CA472415755 | KCNQ1 | c.24-141C>A (n.24-141C>A) c.144C>A (p.Gly48=) | gnomAD v4 |
11 | g.2445242C= | CA1948160892 | KCNQ1 | c.24-141C= (n.24-141C=) c.144C= (p.Gly48=) | |
11 | g.2445242C>G | CA16613300 | KCNQ1 | c.24-141C>G (n.24-141C>G) c.144C>G (p.Gly48=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445242C>T | CA472415756 | KCNQ1 | c.24-141C>T (n.24-141C>T) c.144C>T (p.Gly48=) | gnomAD v4 |
11 | g.2445243G>A | CA379116350 | KCNQ1 | c.24-140G>A (n.24-140G>A) c.145G>A (p.Ala49Thr) | gnomAD v4 |
11 | g.2445243G>C | CA379116354 | KCNQ1 | c.24-140G>C (n.24-140G>C) c.145G>C (p.Ala49Pro) | |
11 | g.2445243G>T | CA379116352 | KCNQ1 | c.24-140G>T (n.24-140G>T) c.145G>T (p.Ala49Ser) | gnomAD v4 |
11 | g.2445244C>A | CA379116356 | KCNQ1 | c.24-139C>A (n.24-139C>A) c.146C>A (p.Ala49Glu) | gnomAD v4 |
11 | g.2445244C>G | CA379116358 | KCNQ1 | c.24-139C>G (n.24-139C>G) c.146C>G (p.Ala49Gly) | |
11 | g.2445244C>T | CA379116360 | KCNQ1 | c.24-139C>T (n.24-139C>T) c.146C>T (p.Ala49Val) | gnomAD v4 |
11 | g.2445245G>A | CA472415759 | KCNQ1 | c.24-138G>A (n.24-138G>A) c.147G>A (p.Ala49=) | gnomAD v4 |
11 | g.2445245G>C | CA472415761 | KCNQ1 | c.24-138G>C (n.24-138G>C) c.147G>C (p.Ala49=) | |
11 | g.2445245G>T | CA472415760 | KCNQ1 | c.24-138G>T (n.24-138G>T) c.147G>T (p.Ala49=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445246C>A | CA379116362 | KCNQ1 | c.24-137C>A (n.24-137C>A) c.148C>A (p.Leu50Ile) | gnomAD v4 |
11 | g.2445246C>G | CA379116363 | KCNQ1 | c.24-137C>G (n.24-137C>G) c.148C>G (p.Leu50Val) | |
11 | g.2445246C>T | CA379116365 | KCNQ1 | c.24-137C>T (n.24-137C>T) c.148C>T (p.Leu50Phe) | gnomAD v4 |
11 | g.2445247T>A | CA379116368 | KCNQ1 | c.24-136T>A (n.24-136T>A) c.149T>A (p.Leu50His) | gnomAD v4 |
11 | g.2445247T>C | CA379116369 | KCNQ1 | c.24-136T>C (n.24-136T>C) c.149T>C (p.Leu50Pro) | gnomAD v4 |
11 | g.2445247T>G | CA379116372 | KCNQ1 | c.24-136T>G (n.24-136T>G) c.149T>G (p.Leu50Arg) | |
11 | g.2445248C>A | CA472415767 | KCNQ1 | c.24-135C>A (n.24-135C>A) c.150C>A (p.Leu50=) | gnomAD v4 |
11 | g.2445248C= | CA1948160893 | KCNQ1 | c.24-135C= (n.24-135C=) c.150C= (p.Leu50=) | |
11 | g.2445248C>G | CA472415765 | KCNQ1 | c.24-135C>G (n.24-135C>G) c.150C>G (p.Leu50=) | |
11 | g.2445248C>T | CA472415766 | KCNQ1 | c.24-135C>T (n.24-135C>T) c.150C>T (p.Leu50=) | gnomAD v4 |
11 | g.2445249T>A | CA379116374 | KCNQ1 | c.24-134T>A (n.24-134T>A) c.151T>A (p.Tyr51Asn) | |
11 | g.2445249T>C | CA379116376 | KCNQ1 | c.24-134T>C (n.24-134T>C) c.151T>C (p.Tyr51His) | gnomAD v4 |
11 | g.2445249T>G | CA379116378 | KCNQ1 | c.24-134T>G (n.24-134T>G) c.151T>G (p.Tyr51Asp) | |
11 | g.2445249dup | CA005808 | KCNQ1 | c.24-134dup (n.24-134dup) c.151dup (p.Tyr51LeufsTer?) | ClinVar dbSNP |
11 | g.2445250A= | CA1948160894 | KCNQ1 | c.24-133A= (n.24-133A=) c.152A= (p.Tyr51=) | |
11 | g.2445250A>C | CA379116384 | KCNQ1 | c.24-133A>C (n.24-133A>C) c.152A>C (p.Tyr51Ser) | |
11 | g.2445250A>G | CA379116382 | KCNQ1 | c.24-133A>G (n.24-133A>G) c.152A>G (p.Tyr51Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445250A>T | CA379116380 | KCNQ1 | c.24-133A>T (n.24-133A>T) c.152A>T (p.Tyr51Phe) | gnomAD v4 |
11 | g.2445250_2445258del | CA2574728028 | KCNQ1 | c.24-133_24-125del (n.24-133_24-125del) c.152_160del (p.Tyr51_Ile54delinsPhe) | |
11 | g.2445250_2445259delinsACGCGCCCAT | CA1948160895 | KCNQ1 | c.24-133_24-124delinsACGCGCCCAT (n.24-133_24-124delinsACGCGCCCAT) c.152_161delinsACGCGCCCAT (p.Tyr51=) | |
11 | g.2445251C>A | CA379116387 | KCNQ1 | c.24-132C>A (n.24-132C>A) c.153C>A (p.Tyr51Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445251C= | CA1948160896 | KCNQ1 | c.24-132C= (n.24-132C=) c.153C= (p.Tyr51=) | |
11 | g.2445251C>G | CA005867 | KCNQ1 | c.24-132C>G (n.24-132C>G) c.153C>G (p.Tyr51Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445251C>T | CA472415770 | KCNQ1 | c.24-132C>T (n.24-132C>T) c.153C>T (p.Tyr51=) | gnomAD v4 |
11 | g.2445266_2445267insATCGCGCCCATCGCGCCC | CA918805507 | KCNQ1 | c.24-117_24-116insATCGCGCCCATCGCGCCC (n.24-117_24-116insATCGCGCCCATCGCGCCC) c.168_169insATCGCGCCCATCGCGCCC (p.Pro56_Gly57insIleAlaProIleAlaPro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445258_2445266dup | CA006159 | KCNQ1 | c.24-125_24-117dup (n.24-125_24-117dup) c.160_168dup (p.Pro56_Gly57insIleAlaPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445258_2445266del | CA674858401 | KCNQ1 | c.24-125_24-117del (n.24-125_24-117del) c.160_168del (p.Ile54_Pro56del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445252G>A | CA379116392 | KCNQ1 | c.24-131G>A (n.24-131G>A) c.154G>A (p.Ala52Thr) | dbSNP gnomAD v4 |
11 | g.2445252G>C | CA379116393 | KCNQ1 | c.24-131G>C (n.24-131G>C) c.154G>C (p.Ala52Pro) | dbSNP |
11 | g.2445252G= | CA1948160897 | KCNQ1 | c.24-131G= (n.24-131G=) c.154G= (p.Ala52=) | |
11 | g.2445252G>T | CA379116394 | KCNQ1 | c.24-131G>T (n.24-131G>T) c.154G>T (p.Ala52Ser) | gnomAD v4 |
11 | g.2445258_2445273del | CA2499220864 | KCNQ1 | c.24-125_24-110del (n.24-125_24-110del) c.160_175del (p.Ile54GlnfsTer27) | ClinVar dbSNP |
11 | g.2445253C>A | CA379116395 | KCNQ1 | c.24-130C>A (n.24-130C>A) c.155C>A (p.Ala52Glu) | gnomAD v4 |
11 | g.2445253C>G | CA379116397 | KCNQ1 | c.24-130C>G (n.24-130C>G) c.155C>G (p.Ala52Gly) | gnomAD v4 |
11 | g.2445253C>T | CA379116399 | KCNQ1 | c.24-130C>T (n.24-130C>T) c.155C>T (p.Ala52Val) | gnomAD v4 |
11 | g.2445254G>A | CA472415771 | KCNQ1 | c.24-129G>A (n.24-129G>A) c.156G>A (p.Ala52=) | dbSNP gnomAD v4 |
11 | g.2445254G>C | CA472415773 | KCNQ1 | c.24-129G>C (n.24-129G>C) c.156G>C (p.Ala52=) | |
11 | g.2445254G= | CA1948160898 | KCNQ1 | c.24-129G= (n.24-129G=) c.156G= (p.Ala52=) | |
11 | g.2445254G>T | CA472415774 | KCNQ1 | c.24-129G>T (n.24-129G>T) c.156G>T (p.Ala52=) | gnomAD v4 |
11 | g.2445255C>A | CA379116401 | KCNQ1 | c.24-128C>A (n.24-128C>A) c.157C>A (p.Pro53Thr) | gnomAD v4 |
11 | g.2445255C>G | CA379116402 | KCNQ1 | c.24-128C>G (n.24-128C>G) c.157C>G (p.Pro53Ala) | gnomAD v4 |
11 | g.2445255C>T | CA379116403 | KCNQ1 | c.24-128C>T (n.24-128C>T) c.157C>T (p.Pro53Ser) | gnomAD v4 |
11 | g.2445256C>A | CA379116409 | KCNQ1 | c.24-127C>A (n.24-127C>A) c.158C>A (p.Pro53His) | gnomAD v4 |
11 | g.2445256C>G | CA379116405 | KCNQ1 | c.24-127C>G (n.24-127C>G) c.158C>G (p.Pro53Arg) | |
11 | g.2445256C>T | CA379116407 | KCNQ1 | c.24-127C>T (n.24-127C>T) c.158C>T (p.Pro53Leu) | gnomAD v4 |
11 | g.2445257C>A | CA472415781 | KCNQ1 | c.24-126C>A (n.24-126C>A) c.159C>A (p.Pro53=) | gnomAD v4 |
11 | g.2445257C= | CA1948160899 | KCNQ1 | c.24-126C= (n.24-126C=) c.159C= (p.Pro53=) | |
11 | g.2445257C>G | CA472415777 | KCNQ1 | c.24-126C>G (n.24-126C>G) c.159C>G (p.Pro53=) | gnomAD v4 |
11 | g.2445257C>T | CA16606914 | KCNQ1 | c.24-126C>T (n.24-126C>T) c.159C>T (p.Pro53=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445258A>C | CA379116411 | KCNQ1 | c.24-125A>C (n.24-125A>C) c.160A>C (p.Ile54Leu) | |
11 | g.2445258A>G | CA379116413 | KCNQ1 | c.24-125A>G (n.24-125A>G) c.160A>G (p.Ile54Val) | dbSNP gnomAD v4 |
11 | g.2445258A>T | CA379116415 | KCNQ1 | c.24-125A>T (n.24-125A>T) c.160A>T (p.Ile54Phe) | gnomAD v4 |
11 | g.2445258_2445259insATCGCGCCC | CA2499220865 | KCNQ1 | c.24-125_24-124insATCGCGCCC (n.24-125_24-124insATCGCGCCC) c.160_161insATCGCGCCC (p.Ile54delinsAsnArgAlaLeu) | ClinVar dbSNP |
11 | g.2445259T>A | CA379116425 | KCNQ1 | c.24-124T>A (n.24-124T>A) c.161T>A (p.Ile54Asn) | gnomAD v4 |
11 | g.2445259T>C | CA379116423 | KCNQ1 | c.24-124T>C (n.24-124T>C) c.161T>C (p.Ile54Thr) | gnomAD v4 |
11 | g.2445259T>G | CA379116427 | KCNQ1 | c.24-124T>G (n.24-124T>G) c.161T>G (p.Ile54Ser) | |
11 | g.2445259_2445282delinsTCGCGCCCGGCGCCCCAGGTCCCG | CA1948160900 | KCNQ1 | c.24-124_24-101delinsTCGCGCCCGGCGCCCCAGGTCCCG (n.24-124_24-101delinsTCGCGCCCGGCGCCCCAGGTCCCG) c.161_184delinsTCGCGCCCGGCGCCCCAGGTCCCG (p.Ile54=) | |
11 | g.2445260C>A | CA472415783 | KCNQ1 | c.24-123C>A (n.24-123C>A) c.162C>A (p.Ile54=) | gnomAD v4 |
11 | g.2445260C>G | CA379116428 | KCNQ1 | c.24-123C>G (n.24-123C>G) c.162C>G (p.Ile54Met) | |
11 | g.2445260C>T | CA472415785 | KCNQ1 | c.24-123C>T (n.24-123C>T) c.162C>T (p.Ile54=) | gnomAD v4 |
11 | g.2445263_2445271del | CA2611999964 | KCNQ1 | c.24-120_24-112del (n.24-120_24-112del) c.165_173del (p.Pro56_Ala58del) | gnomAD v4 |
11 | g.2445263_2445285del | CA006108 | KCNQ1 | c.24-120_24-98del (n.24-120_24-98del) c.165_187del (p.Gly57CysfsTer?) | ClinVar dbSNP |
11 | g.2445261G>A | CA379116443 | KCNQ1 | c.24-122G>A (n.24-122G>A) c.163G>A (p.Ala55Thr) | gnomAD v4 |
11 | g.2445261G>C | CA379116440 | KCNQ1 | c.24-122G>C (n.24-122G>C) c.163G>C (p.Ala55Pro) | |
11 | g.2445261G= | CA1948160901 | KCNQ1 | c.24-122G= (n.24-122G=) c.163G= (p.Ala55=) | |
11 | g.2445261G>T | CA379116438 | KCNQ1 | c.24-122G>T (n.24-122G>T) c.163G>T (p.Ala55Ser) | gnomAD v4 |
11 | g.2445267_2445273del | CA2695213179 | KCNQ1 | c.24-116_24-110del (n.24-116_24-110del) c.169_175del (p.Gly57GlnfsTer27) | |
11 | g.2445262C>A | CA379116446 | KCNQ1 | c.24-121C>A (n.24-121C>A) c.164C>A (p.Ala55Glu) | gnomAD v4 |
11 | g.2445262C= | CA1948160903 | KCNQ1 | c.24-121C= (n.24-121C=) c.164C= (p.Ala55=) | |
11 | g.2445262C>G | CA379116448 | KCNQ1 | c.24-121C>G (n.24-121C>G) c.164C>G (p.Ala55Gly) | |
11 | g.2445262C>T | CA379116444 | KCNQ1 | c.24-121C>T (n.24-121C>T) c.164C>T (p.Ala55Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445262_2445263insTCC | CA1948160902 | KCNQ1 | c.24-121_24-120insTCC (n.24-121_24-120insTCC) c.164_165insTCC (p.Ala55_Pro56insPro) | dbSNP |
11 | g.2445263G>A | CA472415790 | KCNQ1 | c.24-120G>A (n.24-120G>A) c.165G>A (p.Ala55=) | gnomAD v4 |
11 | g.2445263G>C | CA472415791 | KCNQ1 | c.24-120G>C (n.24-120G>C) c.165G>C (p.Ala55=) | |
11 | g.2445263G= | CA1948160904 | KCNQ1 | c.24-120G= (n.24-120G=) c.165G= (p.Ala55=) | |
11 | g.2445263G>T | CA216292622 | KCNQ1 | c.24-120G>T (n.24-120G>T) c.165G>T (p.Ala55=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445264C>A | CA379116451 | KCNQ1 | c.24-119C>A (n.24-119C>A) c.166C>A (p.Pro56Thr) | gnomAD v4 |
11 | g.2445264C>G | CA379116452 | KCNQ1 | c.24-119C>G (n.24-119C>G) c.166C>G (p.Pro56Ala) | |
11 | g.2445264C>T | CA379116457 | KCNQ1 | c.24-119C>T (n.24-119C>T) c.166C>T (p.Pro56Ser) | gnomAD v4 |
11 | g.2445265C>A | CA379116459 | KCNQ1 | c.24-118C>A (n.24-118C>A) c.167C>A (p.Pro56His) | |
11 | g.2445265C>G | CA379116460 | KCNQ1 | c.24-118C>G (n.24-118C>G) c.167C>G (p.Pro56Arg) | |
11 | g.2445265C>T | CA379116461 | KCNQ1 | c.24-118C>T (n.24-118C>T) c.167C>T (p.Pro56Leu) | gnomAD v4 |
11 | g.2445266C>A | CA472415793 | KCNQ1 | c.24-117C>A (n.24-117C>A) c.168C>A (p.Pro56=) | gnomAD v4 |
11 | g.2445266C= | CA1948160905 | KCNQ1 | c.24-117C= (n.24-117C=) c.168C= (p.Pro56=) | |
11 | g.2445266C>G | CA472415794 | KCNQ1 | c.24-117C>G (n.24-117C>G) c.168C>G (p.Pro56=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445266C>T | CA472415797 | KCNQ1 | c.24-117C>T (n.24-117C>T) c.168C>T (p.Pro56=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445266_2445267insAT | CA597432439 | KCNQ1 | c.24-117_24-116insAT (n.24-117_24-116insAT) c.168_169insAT (p.Gly57MetfsTer30) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445267G>A | CA379116462 | KCNQ1 | c.24-116G>A (n.24-116G>A) c.169G>A (p.Gly57Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445267G>C | CA379116463 | KCNQ1 | c.24-116G>C (n.24-116G>C) c.169G>C (p.Gly57Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445267G= | CA1948160906 | KCNQ1 | c.24-116G= (n.24-116G=) c.169G= (p.Gly57=) | |
11 | g.2445267G>T | CA379116464 | KCNQ1 | c.24-116G>T (n.24-116G>T) c.169G>T (p.Gly57Cys) | gnomAD v4 |
11 | g.2445267_2445268insATCGCGCCC | CA2499220866 | KCNQ1 | c.24-116_24-115insATCGCGCCC (n.24-116_24-115insATCGCGCCC) c.169_170insATCGCGCCC (p.Gly57delinsAspArgAlaArg) | ClinVar dbSNP |
11 | g.2445268G>A | CA379116468 | KCNQ1 | c.24-115G>A (n.24-115G>A) c.170G>A (p.Gly57Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.2445268G>C | CA379116466 | KCNQ1 | c.24-115G>C (n.24-115G>C) c.170G>C (p.Gly57Ala) | |
11 | g.2445268G= | CA1948160907 | KCNQ1 | c.24-115G= (n.24-115G=) c.170G= (p.Gly57=) | |
11 | g.2445268G>T | CA006256 | KCNQ1 | c.24-115G>T (n.24-115G>T) c.170G>T (p.Gly57Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445269C>A | CA472415801 | KCNQ1 | c.24-114C>A (n.24-114C>A) c.171C>A (p.Gly57=) | ClinVar gnomAD v4 |
11 | g.2445269C>G | CA472415803 | KCNQ1 | c.24-114C>G (n.24-114C>G) c.171C>G (p.Gly57=) | |
11 | g.2445269C>T | CA472415806 | KCNQ1 | c.24-114C>T (n.24-114C>T) c.171C>T (p.Gly57=) | gnomAD v4 |
11 | g.2445270G>A | CA379116473 | KCNQ1 | c.24-113G>A (n.24-113G>A) c.172G>A (p.Ala58Thr) | ClinVar gnomAD v4 |
11 | g.2445270G>C | CA379116475 | KCNQ1 | c.24-113G>C (n.24-113G>C) c.172G>C (p.Ala58Pro) | gnomAD v4 |
11 | g.2445270G= | CA1948160909 | KCNQ1 | c.24-113G= (n.24-113G=) c.172G= (p.Ala58=) | |
11 | g.2445270G>T | CA379116478 | KCNQ1 | c.24-113G>T (n.24-113G>T) c.172G>T (p.Ala58Ser) | dbSNP gnomAD v4 |
11 | g.2445270_2445271delinsGC | CA1948160908 | KCNQ1 | c.24-113_24-112delinsGC (n.24-113_24-112delinsGC) c.172_173delinsGC (p.Ala58=) | |
11 | g.2445271C>A | CA379116479 | KCNQ1 | c.24-112C>A (n.24-112C>A) c.173C>A (p.Ala58Asp) | gnomAD v4 |
11 | g.2445271C= | CA1948160910 | KCNQ1 | c.24-112C= (n.24-112C=) c.173C= (p.Ala58=) | |
11 | g.2445271C>G | CA379116482 | KCNQ1 | c.24-112C>G (n.24-112C>G) c.173C>G (p.Ala58Gly) | |
11 | g.2445271C>T | CA216292634 | KCNQ1 | c.24-112C>T (n.24-112C>T) c.173C>T (p.Ala58Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445274del | CA658761309 | KCNQ1 | c.24-109del (n.24-109del) c.176del (p.Pro59GlnfsTer27) | ClinVar dbSNP gnomAD v4 |
11 | g.2445272C>A | CA472415808 | KCNQ1 | c.24-111C>A (n.24-111C>A) c.174C>A (p.Ala58=) | gnomAD v4 |
11 | g.2445272C= | CA1948160911 | KCNQ1 | c.24-111C= (n.24-111C=) c.174C= (p.Ala58=) | |
11 | g.2445272C>G | CA472415810 | KCNQ1 | c.24-111C>G (n.24-111C>G) c.174C>G (p.Ala58=) | |
11 | g.2445272C>T | CA472415809 | KCNQ1 | c.24-111C>T (n.24-111C>T) c.174C>T (p.Ala58=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445273C>A | CA379116486 | KCNQ1 | c.24-110C>A (n.24-110C>A) c.175C>A (p.Pro59Thr) | gnomAD v4 |
11 | g.2445273C= | CA1948160913 | KCNQ1 | c.24-110C= (n.24-110C=) c.175C= (p.Pro59=) | |
11 | g.2445273C>G | CA379116488 | KCNQ1 | c.24-110C>G (n.24-110C>G) c.175C>G (p.Pro59Ala) | ClinVar dbSNP |
11 | g.2445273C>T | CA379116490 | KCNQ1 | c.24-110C>T (n.24-110C>T) c.175C>T (p.Pro59Ser) | gnomAD v4 |
11 | g.2445273_2445275delinsCCA | CA1948160912 | KCNQ1 | c.24-110_24-108delinsCCA (n.24-110_24-108delinsCCA) c.175_177delinsCCA (p.Pro59=) | |
11 | g.2445274C>A | CA379116495 | KCNQ1 | c.24-109C>A (n.24-109C>A) c.176C>A (p.Pro59Gln) | gnomAD v4 |
11 | g.2445274C>G | CA379116496 | KCNQ1 | c.24-109C>G (n.24-109C>G) c.176C>G (p.Pro59Arg) | |
11 | g.2445274C>T | CA379116497 | KCNQ1 | c.24-109C>T (n.24-109C>T) c.176C>T (p.Pro59Leu) | |
11 | g.2445274_2445275del | CA597432440 | KCNQ1 | c.24-109_24-108del (n.24-109_24-108del) c.176_177del (p.Pro59ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445275A= | CA1948160914 | KCNQ1 | c.24-108A= (n.24-108A=) c.177A= (p.Pro59=) | |
11 | g.2445275A>C | CA472415811 | KCNQ1 | c.24-108A>C (n.24-108A>C) c.177A>C (p.Pro59=) | |
11 | g.2445275A>G | CA472415812 | KCNQ1 | c.24-108A>G (n.24-108A>G) c.177A>G (p.Pro59=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445275A>T | CA472415813 | KCNQ1 | c.24-108A>T (n.24-108A>T) c.177A>T (p.Pro59=) | |
11 | g.2445276G>A | CA379116508 | KCNQ1 | c.24-107G>A (n.24-107G>A) c.178G>A (p.Gly60Ser) | gnomAD v4 |
11 | g.2445276G>C | CA379116506 | KCNQ1 | c.24-107G>C (n.24-107G>C) c.178G>C (p.Gly60Arg) | gnomAD v4 |
11 | g.2445276G>T | CA379116503 | KCNQ1 | c.24-107G>T (n.24-107G>T) c.178G>T (p.Gly60Cys) | gnomAD v4 |
11 | g.2445277G>A | CA379116517 | KCNQ1 | c.24-106G>A (n.24-106G>A) c.179G>A (p.Gly60Asp) | gnomAD v4 |
11 | g.2445277G>C | CA379116511 | KCNQ1 | c.24-106G>C (n.24-106G>C) c.179G>C (p.Gly60Ala) | |
11 | g.2445277G>T | CA379116513 | KCNQ1 | c.24-106G>T (n.24-106G>T) c.179G>T (p.Gly60Val) | |
11 | g.2445278T>A | CA472415817 | KCNQ1 | c.24-105T>A (n.24-105T>A) c.180T>A (p.Gly60=) | |
11 | g.2445278T>C | CA472415818 | KCNQ1 | c.24-105T>C (n.24-105T>C) c.180T>C (p.Gly60=) | dbSNP gnomAD v4 |
11 | g.2445278T>G | CA472415819 | KCNQ1 | c.24-105T>G (n.24-105T>G) c.180T>G (p.Gly60=) | |
11 | g.2445279C>A | CA379116520 | KCNQ1 | c.24-104C>A (n.24-104C>A) c.181C>A (p.Pro61Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445279C= | CA1948160917 | KCNQ1 | c.24-104C= (n.24-104C=) c.181C= (p.Pro61=) | |
11 | g.2445279C>G | CA379116521 | KCNQ1 | c.24-104C>G (n.24-104C>G) c.181C>G (p.Pro61Ala) | |
11 | g.2445279C>T | CA379116523 | KCNQ1 | c.24-104C>T (n.24-104C>T) c.181C>T (p.Pro61Ser) | ClinVar gnomAD v4 |
11 | g.2445279_2445300delinsCCCGCGCCCCCTGCGTCCCCGG | CA1948160916 | KCNQ1 | c.24-104_24-83delinsCCCGCGCCCCCTGCGTCCCCGG (n.24-104_24-83delinsCCCGCGCCCCCTGCGTCCCCGG) c.181_202delinsCCCGCGCCCCCTGCGTCCCCGG (p.Pro61=) | |
11 | g.2445279_2445309delinsCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCG | CA1948160915 | KCNQ1 | c.24-104_24-74delinsCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCG (n.24-104_24-74delinsCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCG) c.181_211delinsCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCG (p.Pro61=) | |
11 | g.2445280C>A | CA379116527 | KCNQ1 | c.24-103C>A (n.24-103C>A) c.182C>A (p.Pro61His) | gnomAD v4 |
11 | g.2445280C= | CA1948160918 | KCNQ1 | c.24-103C= (n.24-103C=) c.182C= (p.Pro61=) | |
11 | g.2445280C>G | CA379116530 | KCNQ1 | c.24-103C>G (n.24-103C>G) c.182C>G (p.Pro61Arg) | |
11 | g.2445280C>T | CA379116532 | KCNQ1 | c.24-103C>T (n.24-103C>T) c.182C>T (p.Pro61Leu) | dbSNP |
11 | g.2445288_2445308del | CA658761311 | KCNQ1 | c.24-95_24-75del (n.24-95_24-75del) c.190_210del (p.Pro64_Pro70del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445290_2445319del | CA033260 | KCNQ1 | c.24-93_24-64del (n.24-93_24-64del) c.192_221del (p.Ala65_Pro74del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445281C>A | CA472415821 | KCNQ1 | c.24-102C>A (n.24-102C>A) c.183C>A (p.Pro61=) | gnomAD v4 |
11 | g.2445281C>G | CA472415825 | KCNQ1 | c.24-102C>G (n.24-102C>G) c.183C>G (p.Pro61=) | gnomAD v4 |
11 | g.2445281C>T | CA472415823 | KCNQ1 | c.24-102C>T (n.24-102C>T) c.183C>T (p.Pro61=) | ClinVar gnomAD v4 |
11 | g.2445281_2445290delinsCGCGCCCCCT | CA1948160919 | KCNQ1 | c.24-102_24-93delinsCGCGCCCCCT (n.24-102_24-93delinsCGCGCCCCCT) c.183_192delinsCGCGCCCCCT (p.Pro61=) | |
11 | g.2445282G>A | CA006505 | KCNQ1 | c.24-101G>A (n.24-101G>A) c.184G>A (p.Ala62Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2445282G>C | CA379116537 | KCNQ1 | c.24-101G>C (n.24-101G>C) c.184G>C (p.Ala62Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445282G= | CA1948160921 | KCNQ1 | c.24-101G= (n.24-101G=) c.184G= (p.Ala62=) | |
11 | g.2445282G>T | CA379116539 | KCNQ1 | c.24-101G>T (n.24-101G>T) c.184G>T (p.Ala62Ser) | gnomAD v4 |
11 | g.2445285_2445293del | CA1948160920 | KCNQ1 | c.24-98_24-90del (n.24-98_24-90del) c.187_195del (p.Pro63_Ala65del) | dbSNP |
11 | g.2445283C>A | CA379116544 | KCNQ1 | c.24-100C>A (n.24-100C>A) c.185C>A (p.Ala62Glu) | gnomAD v4 |
11 | g.2445283C= | CA1948160922 | KCNQ1 | c.24-100C= (n.24-100C=) c.185C= (p.Ala62=) | |
11 | g.2445283C>G | CA379116543 | KCNQ1 | c.24-100C>G (n.24-100C>G) c.185C>G (p.Ala62Gly) | |
11 | g.2445283C>T | CA379116541 | KCNQ1 | c.24-100C>T (n.24-100C>T) c.185C>T (p.Ala62Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445284del | CA2611999990 | KCNQ1 | c.24-99del (n.24-99del) c.186del (p.Pro64LeufsTer22) | gnomAD v4 |
11 | g.2445284G>A | CA472415828 | KCNQ1 | c.24-99G>A (n.24-99G>A) c.186G>A (p.Ala62=) | gnomAD v4 |
11 | g.2445284G>C | CA472415826 | KCNQ1 | c.24-99G>C (n.24-99G>C) c.186G>C (p.Ala62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445284G= | CA1948160923 | KCNQ1 | c.24-99G= (n.24-99G=) c.186G= (p.Ala62=) | |
11 | g.2445284G>T | CA472415827 | KCNQ1 | c.24-99G>T (n.24-99G>T) c.186G>T (p.Ala62=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445285C>A | CA379116546 | KCNQ1 | c.24-98C>A (n.24-98C>A) c.187C>A (p.Pro63Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445285C= | CA1948160924 | KCNQ1 | c.24-98C= (n.24-98C=) c.187C= (p.Pro63=) | |
11 | g.2445285C>G | CA379116548 | KCNQ1 | c.24-98C>G (n.24-98C>G) c.187C>G (p.Pro63Ala) | |
11 | g.2445285C>T | CA379116554 | KCNQ1 | c.24-98C>T (n.24-98C>T) c.187C>T (p.Pro63Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445289del | CA913188339 | KCNQ1 | c.24-94del (n.24-94del) c.191del (p.Pro64LeufsTer22) | ClinVar gnomAD v3 gnomAD v4 |
11 | g.2445286C>A | CA379116564 | KCNQ1 | c.24-97C>A (n.24-97C>A) c.188C>A (p.Pro63His) | dbSNP gnomAD v4 |
11 | g.2445286C= | CA1948160925 | KCNQ1 | c.24-97C= (n.24-97C=) c.188C= (p.Pro63=) | |
11 | g.2445286C>G | CA379116568 | KCNQ1 | c.24-97C>G (n.24-97C>G) c.188C>G (p.Pro63Arg) | |
11 | g.2445286C>T | CA379116575 | KCNQ1 | c.24-97C>T (n.24-97C>T) c.188C>T (p.Pro63Leu) | gnomAD v4 |
11 | g.2445290_2445298dup | CA033444 | KCNQ1 | c.24-93_24-85dup (n.24-93_24-85dup) c.192_200dup (p.Pro67_Ala68insAlaSerPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445287C>A | CA472415832 | KCNQ1 | c.24-96C>A (n.24-96C>A) c.189C>A (p.Pro63=) | |
11 | g.2445287C= | CA1948160926 | KCNQ1 | c.24-96C= (n.24-96C=) c.189C= (p.Pro63=) | |
11 | g.2445287C>G | CA472415833 | KCNQ1 | c.24-96C>G (n.24-96C>G) c.189C>G (p.Pro63=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445287C>T | CA472415834 | KCNQ1 | c.24-96C>T (n.24-96C>T) c.189C>T (p.Pro63=) | gnomAD v4 |
11 | g.2445288C>A | CA379116579 | KCNQ1 | c.24-95C>A (n.24-95C>A) c.190C>A (p.Pro64Thr) | gnomAD v4 |
11 | g.2445288C= | CA1948160927 | KCNQ1 | c.24-95C= (n.24-95C=) c.190C= (p.Pro64=) | |
11 | g.2445288C>G | CA379116582 | KCNQ1 | c.24-95C>G (n.24-95C>G) c.190C>G (p.Pro64Ala) | gnomAD v4 |
11 | g.2445288C>T | CA379116584 | KCNQ1 | c.24-95C>T (n.24-95C>T) c.190C>T (p.Pro64Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.2445288_2445289insT | CA2612000010 | KCNQ1 | c.24-95_24-94insT (n.24-95_24-94insT) c.190_191insT (p.Pro64LeufsTer?) | gnomAD v4 |
11 | g.2445289C>A | CA216292655 | KCNQ1 | c.24-94C>A (n.24-94C>A) c.191C>A (p.Pro64His) | dbSNP |
11 | g.2445289C= | CA1948160928 | KCNQ1 | c.24-94C= (n.24-94C=) c.191C= (p.Pro64=) | |
11 | g.2445289C>G | CA379116588 | KCNQ1 | c.24-94C>G (n.24-94C>G) c.191C>G (p.Pro64Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445289C>T | CA379116591 | KCNQ1 | c.24-94C>T (n.24-94C>T) c.191C>T (p.Pro64Leu) | gnomAD v4 |
11 | g.2445289_2445290delinsCT | CA1948160929 | KCNQ1 | c.24-94_24-93delinsCT (n.24-94_24-93delinsCT) c.191_192delinsCT (p.Pro64=) | |
11 | g.2445290del | CA472416150 | KCNQ1 | c.24-93del (n.24-93del) c.192del (p.Ala65ArgfsTer21) | dbSNP |
11 | g.2445290T>A | CA472416147 | KCNQ1 | c.24-93T>A (n.24-93T>A) c.192T>A (p.Pro64=) | gnomAD v4 |
11 | g.2445290T>C | CA472416148 | KCNQ1 | c.24-93T>C (n.24-93T>C) c.192T>C (p.Pro64=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445290T>G | CA472416149 | KCNQ1 | c.24-93T>G (n.24-93T>G) c.192T>G (p.Pro64=) | |
11 | g.2445290T= | CA1948160930 | KCNQ1 | c.24-93T= (n.24-93T=) c.192T= (p.Pro64=) | |
11 | g.2445291del | CA379116596 | KCNQ1 | c.24-92del (n.24-92del) c.193del (p.Ala65ArgfsTer21) | |
11 | g.2445291G>A | CA379116613 | KCNQ1 | c.24-92G>A (n.24-92G>A) c.193G>A (p.Ala65Thr) | |
11 | g.2445291G>C | CA379116610 | KCNQ1 | c.24-92G>C (n.24-92G>C) c.193G>C (p.Ala65Pro) | gnomAD v4 |
11 | g.2445291G>T | CA379116599 | KCNQ1 | c.24-92G>T (n.24-92G>T) c.193G>T (p.Ala65Ser) | gnomAD v4 |
11 | g.2445293_2445301del | CA2612000014 | KCNQ1 | c.24-90_24-82del (n.24-90_24-82del) c.195_203del (p.Ser66_Ala68del) | gnomAD v4 |
11 | g.2445292C>A | CA379116614 | KCNQ1 | c.24-91C>A (n.24-91C>A) c.194C>A (p.Ala65Glu) | gnomAD v4 |
11 | g.2445292C= | CA1948160931 | KCNQ1 | c.24-91C= (n.24-91C=) c.194C= (p.Ala65=) | |
11 | g.2445292C>G | CA379116616 | KCNQ1 | c.24-91C>G (n.24-91C>G) c.194C>G (p.Ala65Gly) | |
11 | g.2445292C>T | CA216292657 | KCNQ1 | c.24-91C>T (n.24-91C>T) c.194C>T (p.Ala65Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445293G>A | CA472416151 | KCNQ1 | c.24-90G>A (n.24-90G>A) c.195G>A (p.Ala65=) | gnomAD v4 |
11 | g.2445293G>C | CA472416152 | KCNQ1 | c.24-90G>C (n.24-90G>C) c.195G>C (p.Ala65=) | ClinVar dbSNP |
11 | g.2445293G= | CA1948160932 | KCNQ1 | c.24-90G= (n.24-90G=) c.195G= (p.Ala65=) | |
11 | g.2445293G>T | CA472416153 | KCNQ1 | c.24-90G>T (n.24-90G>T) c.195G>T (p.Ala65=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445294T>A | CA379116623 | KCNQ1 | c.24-89T>A (n.24-89T>A) c.196T>A (p.Ser66Thr) | |
11 | g.2445294T>C | CA216292660 | KCNQ1 | c.24-89T>C (n.24-89T>C) c.196T>C (p.Ser66Pro) | dbSNP |
11 | g.2445294T>G | CA379116626 | KCNQ1 | c.24-89T>G (n.24-89T>G) c.196T>G (p.Ser66Ala) | |
11 | g.2445294T= | CA1948160936 | KCNQ1 | c.24-89T= (n.24-89T=) c.196T= (p.Ser66=) | |
11 | g.2445294_2445295delinsTC | CA1948160935 | KCNQ1 | c.24-89_24-88delinsTC (n.24-89_24-88delinsTC) c.196_197delinsTC (p.Ser66=) | |
11 | g.2445294_2445305delinsTCCCCGGCCGCG | CA1948160934 | KCNQ1 | c.24-89_24-78delinsTCCCCGGCCGCG (n.24-89_24-78delinsTCCCCGGCCGCG) c.196_207delinsTCCCCGGCCGCG (p.Ser66=) | |
11 | g.2445294_2445315delinsTCCCCGGCCGCGCCCGCCGCGC | CA1948160933 | KCNQ1 | c.24-89_24-68delinsTCCCCGGCCGCGCCCGCCGCGC (n.24-89_24-68delinsTCCCCGGCCGCGCCCGCCGCGC) c.196_217delinsTCCCCGGCCGCGCCCGCCGCGC (p.Ser66=) |