| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.2445294_2445315delinsTCCCCGGCCGCGCCCGCCGCGC | CA1948160933 | KCNQ1 | c.24-89_24-68delinsTCCCCGGCCGCGCCCGCCGCGC (n.24-89_24-68delinsTCCCCGGCCGCGCCCGCCGCGC) c.196_217delinsTCCCCGGCCGCGCCCGCCGCGC (p.Ser66=) | |
| 11 | g.2445299_2445319dup | CA2612000022 | KCNQ1 | c.24-84_24-64dup (n.24-84_24-64dup) c.201_221dup (p.Pro74_Val75insAlaAlaProAlaAlaProPro) | gnomAD v4 |
| 11 | g.2445299_2445319del | CA006668 | KCNQ1 | c.24-84_24-64del (n.24-84_24-64del) c.201_221del (p.Ala68_Pro74del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445309_2445317dup | CA006733 | KCNQ1 | c.24-74_24-66dup (n.24-74_24-66dup) c.211_219dup (p.Pro73_Pro74insAlaAlaPro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445309_2445317del | CA006710 | KCNQ1 | c.24-74_24-66del (n.24-74_24-66del) c.211_219del (p.Ala71_Pro73del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445311_2445329del | CA658761313 | KCNQ1 | c.24-72_24-54del (n.24-72_24-54del) c.213_231del (p.Ala72ThrfsTer8) | |
| 11 | g.2445312G>A | CA379116756 | KCNQ1 | c.24-71G>A (n.24-71G>A) c.214G>A (p.Ala72Thr) | gnomAD v4 |
| 11 | g.2445312G>C | CA379116752 | KCNQ1 | c.24-71G>C (n.24-71G>C) c.214G>C (p.Ala72Pro) | ClinVar dbSNP |
| 11 | g.2445312G= | CA1948160946 | KCNQ1 | c.24-71G= (n.24-71G=) c.214G= (p.Ala72=) | |
| 11 | g.2445312G>T | CA379116750 | KCNQ1 | c.24-71G>T (n.24-71G>T) c.214G>T (p.Ala72Ser) | gnomAD v4 |
| 11 | g.2445313C>A | CA379116758 | KCNQ1 | c.24-70C>A (n.24-70C>A) c.215C>A (p.Ala72Glu) | gnomAD v4 |
| 11 | g.2445313C>G | CA379116759 | KCNQ1 | c.24-70C>G (n.24-70C>G) c.215C>G (p.Ala72Gly) | |
| 11 | g.2445313C>T | CA379116761 | KCNQ1 | c.24-70C>T (n.24-70C>T) c.215C>T (p.Ala72Val) | gnomAD v4 |
| 11 | g.2445314G>A | CA472416168 | KCNQ1 | c.24-69G>A (n.24-69G>A) c.216G>A (p.Ala72=) | gnomAD v4 COSMIC |
| 11 | g.2445314G>C | CA472416170 | KCNQ1 | c.24-69G>C (n.24-69G>C) c.216G>C (p.Ala72=) | |
| 11 | g.2445314G>T | CA472416169 | KCNQ1 | c.24-69G>T (n.24-69G>T) c.216G>T (p.Ala72=) | gnomAD v4 |
| 11 | g.2445315C>A | CA006724 | KCNQ1 | c.24-68C>A (n.24-68C>A) c.217C>A (p.Pro73Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445315C= | CA1948160947 | KCNQ1 | c.24-68C= (n.24-68C=) c.217C= (p.Pro73=) | |
| 11 | g.2445315C>G | CA379116764 | KCNQ1 | c.24-68C>G (n.24-68C>G) c.217C>G (p.Pro73Ala) | |
| 11 | g.2445315C>T | CA379116766 | KCNQ1 | c.24-68C>T (n.24-68C>T) c.217C>T (p.Pro73Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445319dup | CA2580082600 | KCNQ1 | c.24-64dup (n.24-64dup) c.221dup (p.Val75SerfsTer?) | ClinVar gnomAD v4 |
| 11 | g.2445319del | CA2612000081 | KCNQ1 | c.24-64del (n.24-64del) c.221del (p.Pro74GlnfsTer12) | gnomAD v4 |
| 11 | g.2445318_2445319del | CA2695213180 | KCNQ1 | c.24-65_24-64del (n.24-65_24-64del) c.220_221del (p.Pro74SerfsTer?) | |
| 11 | g.2445316C>A | CA379116770 | KCNQ1 | c.24-67C>A (n.24-67C>A) c.218C>A (p.Pro73His) | |
| 11 | g.2445316C>G | CA379116773 | KCNQ1 | c.24-67C>G (n.24-67C>G) c.218C>G (p.Pro73Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445316C>T | CA379116775 | KCNQ1 | c.24-67C>T (n.24-67C>T) c.218C>T (p.Pro73Leu) | gnomAD v4 |
| 11 | g.2445317C>A | CA472416173 | KCNQ1 | c.24-66C>A (n.24-66C>A) c.219C>A (p.Pro73=) | gnomAD v4 |
| 11 | g.2445317C>G | CA472416171 | KCNQ1 | c.24-66C>G (n.24-66C>G) c.219C>G (p.Pro73=) | |
| 11 | g.2445317C>T | CA472416172 | KCNQ1 | c.24-66C>T (n.24-66C>T) c.219C>T (p.Pro73=) | gnomAD v4 |
| 11 | g.2445318C>A | CA379116777 | KCNQ1 | c.24-65C>A (n.24-65C>A) c.220C>A (p.Pro74Thr) | gnomAD v4 |
| 11 | g.2445318C= | CA1948160948 | KCNQ1 | c.24-65C= (n.24-65C=) c.220C= (p.Pro74=) | |
| 11 | g.2445318C>G | CA379116781 | KCNQ1 | c.24-65C>G (n.24-65C>G) c.220C>G (p.Pro74Ala) | gnomAD v4 |
| 11 | g.2445318C>T | CA379116784 | KCNQ1 | c.24-65C>T (n.24-65C>T) c.220C>T (p.Pro74Ser) | dbSNP gnomAD v4 |
| 11 | g.2445319C>A | CA379116786 | KCNQ1 | c.24-64C>A (n.24-64C>A) c.221C>A (p.Pro74Gln) | dbSNP |
| 11 | g.2445319C= | CA1948160949 | KCNQ1 | c.24-64C= (n.24-64C=) c.221C= (p.Pro74=) | |
| 11 | g.2445319C>G | CA379116792 | KCNQ1 | c.24-64C>G (n.24-64C>G) c.221C>G (p.Pro74Arg) | |
| 11 | g.2445319C>T | CA379116788 | KCNQ1 | c.24-64C>T (n.24-64C>T) c.221C>T (p.Pro74Leu) | gnomAD v4 |
| 11 | g.2445320A= | CA1948160950 | KCNQ1 | c.24-63A= (n.24-63A=) c.222A= (p.Pro74=) | |
| 11 | g.2445320A>C | CA472416174 | KCNQ1 | c.24-63A>C (n.24-63A>C) c.222A>C (p.Pro74=) | ClinVar |
| 11 | g.2445320A>G | CA472416175 | KCNQ1 | c.24-63A>G (n.24-63A>G) c.222A>G (p.Pro74=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445320A>T | CA472416176 | KCNQ1 | c.24-63A>T (n.24-63A>T) c.222A>T (p.Pro74=) | |
| 11 | g.2445321G>A | CA379116794 | KCNQ1 | c.24-62G>A (n.24-62G>A) c.223G>A (p.Val75Ile) | gnomAD v4 |
| 11 | g.2445321G>C | CA379116799 | KCNQ1 | c.24-62G>C (n.24-62G>C) c.223G>C (p.Val75Leu) | |
| 11 | g.2445321G>T | CA379116800 | KCNQ1 | c.24-62G>T (n.24-62G>T) c.223G>T (p.Val75Phe) | gnomAD v4 |
| 11 | g.2445322T>A | CA379116801 | KCNQ1 | c.24-61T>A (n.24-61T>A) c.224T>A (p.Val75Asp) n.1T>A | |
| 11 | g.2445322T>C | CA379116812 | KCNQ1 | c.24-61T>C (n.24-61T>C) c.224T>C (p.Val75Ala) n.1T>C | gnomAD v4 COSMIC |
| 11 | g.2445322T>G | CA379116815 | KCNQ1 | c.24-61T>G (n.24-61T>G) c.224T>G (p.Val75Gly) n.1T>G | |
| 11 | g.2445323T>A | CA472416177 | KCNQ1 | c.24-60T>A (n.24-60T>A) c.225T>A (p.Val75=) n.2T>A | gnomAD v4 |