UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445173_2445270del | CA2790193839 | KCNQ1 | c.24-210_24-113del (n.24-210_24-113del) c.75_172del (p.Gly26ProfsTer?) | |
| 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.2445229_2445271delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC | CA1948160883 | KCNQ1 | c.24-154_24-112delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC (n.24-154_24-112delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC) c.131_173delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC (p.Gly44=) | |
| 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.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.2445237_2445263del | CA2611999960 | KCNQ1 | c.24-146_24-120del (n.24-146_24-120del) c.139_165del (p.Gly47_Ala55del) | 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.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) | 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=) | |
| 11 | g.2445295C>A | CA379116629 | KCNQ1 | c.24-88C>A (n.24-88C>A) c.197C>A (p.Ser66Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445295C= | CA1948160937 | KCNQ1 | c.24-88C= (n.24-88C=) c.197C= (p.Ser66=) | |
| 11 | g.2445295C>G | CA379116630 | KCNQ1 | c.24-88C>G (n.24-88C>G) c.197C>G (p.Ser66Cys) | ClinVar |
| 11 | g.2445295C>T | CA006620 | KCNQ1 | c.24-88C>T (n.24-88C>T) c.197C>T (p.Ser66Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445295_2445296delinsTA | CA2573146064 | KCNQ1 | c.24-88_24-87delinsTA (n.24-88_24-87delinsTA) c.197_198delinsTA (p.Ser66Leu) | ClinVar dbSNP |
| 11 | g.2445298del | CA16613554 | KCNQ1 | c.24-85del (n.24-85del) c.200del (p.Pro67ArgfsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445298_2445308del | CA658656109 | KCNQ1 | c.24-85_24-75del (n.24-85_24-75del) c.200_210del (p.Pro67ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 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.2445296C>A | CA472416154 | KCNQ1 | c.24-87C>A (n.24-87C>A) c.198C>A (p.Ser66=) | gnomAD v4 |
| 11 | g.2445296C>G | CA472416156 | KCNQ1 | c.24-87C>G (n.24-87C>G) c.198C>G (p.Ser66=) | |
| 11 | g.2445296C>T | CA472416155 | KCNQ1 | c.24-87C>T (n.24-87C>T) c.198C>T (p.Ser66=) | gnomAD v4 |
| 11 | g.2445297C>A | CA379116634 | KCNQ1 | c.24-86C>A (n.24-86C>A) c.199C>A (p.Pro67Thr) | gnomAD v4 |
| 11 | g.2445297C>G | CA379116637 | KCNQ1 | c.24-86C>G (n.24-86C>G) c.199C>G (p.Pro67Ala) | |
| 11 | g.2445297C>T | CA379116642 | KCNQ1 | c.24-86C>T (n.24-86C>T) c.199C>T (p.Pro67Ser) | |
| 11 | g.2445298C>A | CA379116649 | KCNQ1 | c.24-85C>A (n.24-85C>A) c.200C>A (p.Pro67Gln) | gnomAD v4 |
| 11 | g.2445298C= | CA1948160938 | KCNQ1 | c.24-85C= (n.24-85C=) c.200C= (p.Pro67=) | |
| 11 | g.2445298C>G | CA379116648 | KCNQ1 | c.24-85C>G (n.24-85C>G) c.200C>G (p.Pro67Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445298C>T | CA034191 | KCNQ1 | c.24-85C>T (n.24-85C>T) c.200C>T (p.Pro67Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2445299G>A | CA472416159 | KCNQ1 | c.24-84G>A (n.24-84G>A) c.201G>A (p.Pro67=) | gnomAD v4 |
| 11 | g.2445299G>C | CA472416157 | KCNQ1 | c.24-84G>C (n.24-84G>C) c.201G>C (p.Pro67=) | gnomAD v4 |
| 11 | g.2445299G>T | CA472416158 | KCNQ1 | c.24-84G>T (n.24-84G>T) c.201G>T (p.Pro67=) | gnomAD v4 |
| 11 | g.2445299_2445308delinsGGCCGCGCCC | CA1948160939 | KCNQ1 | c.24-84_24-75delinsGGCCGCGCCC (n.24-84_24-75delinsGGCCGCGCCC) c.201_210delinsGGCCGCGCCC (p.Pro67=) | |
| 11 | g.2445300G>A | CA379116656 | KCNQ1 | c.24-83G>A (n.24-83G>A) c.202G>A (p.Ala68Thr) | gnomAD v4 |
| 11 | g.2445300G>C | CA379116659 | KCNQ1 | c.24-83G>C (n.24-83G>C) c.202G>C (p.Ala68Pro) | gnomAD v4 |
| 11 | g.2445300G>T | CA379116662 | KCNQ1 | c.24-83G>T (n.24-83G>T) c.202G>T (p.Ala68Ser) | 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.2445301_2445321del | CA2790193949 | KCNQ1 | c.24-82_24-62del (n.24-82_24-62del) c.203_223del (p.Ala68_Pro74del) | |
| 11 | g.2445301C>A | CA379116674 | KCNQ1 | c.24-82C>A (n.24-82C>A) c.203C>A (p.Ala68Asp) | gnomAD v4 |
| 11 | g.2445301C>G | CA379116681 | KCNQ1 | c.24-82C>G (n.24-82C>G) c.203C>G (p.Ala68Gly) | |
| 11 | g.2445301C>T | CA379116682 | KCNQ1 | c.24-82C>T (n.24-82C>T) c.203C>T (p.Ala68Val) | gnomAD v4 |
| 11 | g.2445302C>A | CA472416160 | KCNQ1 | c.24-81C>A (n.24-81C>A) c.204C>A (p.Ala68=) | gnomAD v4 |
| 11 | g.2445302C>G | CA472416161 | KCNQ1 | c.24-81C>G (n.24-81C>G) c.204C>G (p.Ala68=) | |
| 11 | g.2445302C>T | CA472416162 | KCNQ1 | c.24-81C>T (n.24-81C>T) c.204C>T (p.Ala68=) | gnomAD v4 |
| 11 | g.2445303G>A | CA379116693 | KCNQ1 | c.24-80G>A (n.24-80G>A) c.205G>A (p.Ala69Thr) | gnomAD v4 |
| 11 | g.2445303G>C | CA379116688 | KCNQ1 | c.24-80G>C (n.24-80G>C) c.205G>C (p.Ala69Pro) | gnomAD v4 |
| 11 | g.2445303G>T | CA379116691 | KCNQ1 | c.24-80G>T (n.24-80G>T) c.205G>T (p.Ala69Ser) | gnomAD v4 |
| 11 | g.2445304C>A | CA379116696 | KCNQ1 | c.24-79C>A (n.24-79C>A) c.206C>A (p.Ala69Glu) | gnomAD v4 |
| 11 | g.2445304C>G | CA379116697 | KCNQ1 | c.24-79C>G (n.24-79C>G) c.206C>G (p.Ala69Gly) | |
| 11 | g.2445304C>T | CA379116698 | KCNQ1 | c.24-79C>T (n.24-79C>T) c.206C>T (p.Ala69Val) | gnomAD v4 |
| 11 | g.2445305G>A | CA034307 | KCNQ1 | c.24-78G>A (n.24-78G>A) c.207G>A (p.Ala69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445305G>C | CA472416163 | KCNQ1 | c.24-78G>C (n.24-78G>C) c.207G>C (p.Ala69=) | |
| 11 | g.2445305G= | CA1948160940 | KCNQ1 | c.24-78G= (n.24-78G=) c.207G= (p.Ala69=) | |
| 11 | g.2445305G>T | CA006695 | KCNQ1 | c.24-78G>T (n.24-78G>T) c.207G>T (p.Ala69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445306C>A | CA006703 | KCNQ1 | c.24-77C>A (n.24-77C>A) c.208C>A (p.Pro70Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445306C= | CA1948160941 | KCNQ1 | c.24-77C= (n.24-77C=) c.208C= (p.Pro70=) | |
| 11 | g.2445306C>G | CA379116702 | KCNQ1 | c.24-77C>G (n.24-77C>G) c.208C>G (p.Pro70Ala) | |
| 11 | g.2445306C>T | CA379116700 | KCNQ1 | c.24-77C>T (n.24-77C>T) c.208C>T (p.Pro70Ser) | gnomAD v4 |
| 11 | g.2445307C>A | CA379116708 | KCNQ1 | c.24-76C>A (n.24-76C>A) c.209C>A (p.Pro70His) | gnomAD v4 |
| 11 | g.2445307C>G | CA379116704 | KCNQ1 | c.24-76C>G (n.24-76C>G) c.209C>G (p.Pro70Arg) | |
| 11 | g.2445307C>T | CA379116707 | KCNQ1 | c.24-76C>T (n.24-76C>T) c.209C>T (p.Pro70Leu) | ClinVar gnomAD v4 |
| 11 | g.2445308C>A | CA472416164 | KCNQ1 | c.24-75C>A (n.24-75C>A) c.210C>A (p.Pro70=) | gnomAD v4 |
| 11 | g.2445308C= | CA1948160942 | KCNQ1 | c.24-75C= (n.24-75C=) c.210C= (p.Pro70=) | |
| 11 | g.2445308C>G | CA472416165 | KCNQ1 | c.24-75C>G (n.24-75C>G) c.210C>G (p.Pro70=) | |
| 11 | g.2445308C>T | CA034345 | KCNQ1 | c.24-75C>T (n.24-75C>T) c.210C>T (p.Pro70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445309G>A | CA034368 | KCNQ1 | c.24-74G>A (n.24-74G>A) c.211G>A (p.Ala71Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2445309G>C | CA379116726 | KCNQ1 | c.24-74G>C (n.24-74G>C) c.211G>C (p.Ala71Pro) | |
| 11 | g.2445309G= | CA1948160943 | KCNQ1 | c.24-74G= (n.24-74G=) c.211G= (p.Ala71=) | |
| 11 | g.2445309G>T | CA034391 | KCNQ1 | c.24-74G>T (n.24-74G>T) c.211G>T (p.Ala71Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2445310C>A | CA379116741 | KCNQ1 | c.24-73C>A (n.24-73C>A) c.212C>A (p.Ala71Asp) | gnomAD v4 |
| 11 | g.2445310C= | CA1948160944 | KCNQ1 | c.24-73C= (n.24-73C=) c.212C= (p.Ala71=) | |
| 11 | g.2445310C>G | CA379116743 | KCNQ1 | c.24-73C>G (n.24-73C>G) c.212C>G (p.Ala71Gly) | |
| 11 | g.2445310C>T | CA034411 | KCNQ1 | c.24-73C>T (n.24-73C>T) c.212C>T (p.Ala71Val) | dbSNP ExAC gnomAD v2 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.2445311C>A | CA034431 | KCNQ1 | c.24-72C>A (n.24-72C>A) c.213C>A (p.Ala71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445311C= | CA1948160945 | KCNQ1 | c.24-72C= (n.24-72C=) c.213C= (p.Ala71=) | |
| 11 | g.2445311C>G | CA472416166 | KCNQ1 | c.24-72C>G (n.24-72C>G) c.213C>G (p.Ala71=) | gnomAD v4 |
| 11 | g.2445311C>T | CA472416167 | KCNQ1 | c.24-72C>T (n.24-72C>T) c.213C>T (p.Ala71=) | gnomAD v4 |
| 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 |
| 11 | g.2445323T>C | CA006736 | KCNQ1 | c.24-60T>C (n.24-60T>C) c.225T>C (p.Val75=) n.2T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445323T>G | CA472416178 | KCNQ1 | c.24-60T>G (n.24-60T>G) c.225T>G (p.Val75=) n.2T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445323T= | CA1948160951 | KCNQ1 | c.24-60T= (n.24-60T=) c.225T= (p.Val75=) n.2T= | |
| 11 | g.2445324G>A | CA034490 | KCNQ1 | c.24-59G>A (n.24-59G>A) c.226G>A (p.Ala76Thr) n.3G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445324G>C | CA379116826 | KCNQ1 | c.24-59G>C (n.24-59G>C) c.226G>C (p.Ala76Pro) n.3G>C | |
| 11 | g.2445324G= | CA1948160952 | KCNQ1 | c.24-59G= (n.24-59G=) c.226G= (p.Ala76=) n.3G= | |
| 11 | g.2445324G>T | CA379116828 | KCNQ1 | c.24-59G>T (n.24-59G>T) c.226G>T (p.Ala76Ser) n.3G>T | gnomAD v4 |
| 11 | g.2445325C>A | CA379116829 | KCNQ1 | c.24-58C>A (n.24-58C>A) c.227C>A (p.Ala76Asp) n.4C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2445325C= | CA1948160953 | KCNQ1 | c.24-58C= (n.24-58C=) c.227C= (p.Ala76=) n.4C= | |
| 11 | g.2445325C>G | CA379116831 | KCNQ1 | c.24-58C>G (n.24-58C>G) c.227C>G (p.Ala76Gly) n.4C>G | |
| 11 | g.2445325C>T | CA379116832 | KCNQ1 | c.24-58C>T (n.24-58C>T) c.227C>T (p.Ala76Val) n.4C>T | gnomAD v4 |
| 11 | g.2445326C>A | CA472416179 | KCNQ1 | c.24-57C>A (n.24-57C>A) c.228C>A (p.Ala76=) n.5C>A | gnomAD v4 |
| 11 | g.2445326C= | CA1948160954 | KCNQ1 | c.24-57C= (n.24-57C=) c.228C= (p.Ala76=) n.5C= | |
| 11 | g.2445326C>G | CA472416180 | KCNQ1 | c.24-57C>G (n.24-57C>G) c.228C>G (p.Ala76=) n.5C>G | |
| 11 | g.2445326C>T | CA034505 | KCNQ1 | c.24-57C>T (n.24-57C>T) c.228C>T (p.Ala76=) n.5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445327T>A | CA379116841 | KCNQ1 | c.24-56T>A (n.24-56T>A) c.229T>A (p.Ser77Thr) n.6T>A | |
| 11 | g.2445327T>C | CA379116840 | KCNQ1 | c.24-56T>C (n.24-56T>C) c.229T>C (p.Ser77Pro) n.6T>C | |
| 11 | g.2445327T>G | CA379116838 | KCNQ1 | c.24-56T>G (n.24-56T>G) c.229T>G (p.Ser77Ala) n.6T>G | |
| 11 | g.2445328C>A | CA379116845 | KCNQ1 | c.24-55C>A (n.24-55C>A) c.230C>A (p.Ser77Tyr) n.7C>A | |
| 11 | g.2445328C= | CA1948160955 | KCNQ1 | c.24-55C= (n.24-55C=) c.230C= (p.Ser77=) n.7C= | |
| 11 | g.2445328C>G | CA379116848 | KCNQ1 | c.24-55C>G (n.24-55C>G) c.230C>G (p.Ser77Cys) n.7C>G | |
| 11 | g.2445328C>T | CA034534 | KCNQ1 | c.24-55C>T (n.24-55C>T) c.230C>T (p.Ser77Phe) n.7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445329C>A | CA472416183 | KCNQ1 | c.24-54C>A (n.24-54C>A) c.231C>A (p.Ser77=) n.8C>A | gnomAD v4 |
| 11 | g.2445329C= | CA1948160956 | KCNQ1 | c.24-54C= (n.24-54C=) c.231C= (p.Ser77=) n.8C= | |
| 11 | g.2445329C>G | CA472416181 | KCNQ1 | c.24-54C>G (n.24-54C>G) c.231C>G (p.Ser77=) n.8C>G | |
| 11 | g.2445329C>T | CA472416182 | KCNQ1 | c.24-54C>T (n.24-54C>T) c.231C>T (p.Ser77=) n.8C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2445330G>A | CA379116849 | KCNQ1 | c.24-53G>A (n.24-53G>A) c.232G>A (p.Asp78Asn) n.9G>A | dbSNP gnomAD v4 |
| 11 | g.2445330G>C | CA379116850 | KCNQ1 | c.24-53G>C (n.24-53G>C) c.232G>C (p.Asp78His) n.9G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445330G= | CA1948160957 | KCNQ1 | c.24-53G= (n.24-53G=) c.232G= (p.Asp78=) n.9G= | |
| 11 | g.2445330G>T | CA379116851 | KCNQ1 | c.24-53G>T (n.24-53G>T) c.232G>T (p.Asp78Tyr) n.9G>T | gnomAD v4 |
| 11 | g.2445331A= | CA1948160958 | KCNQ1 | c.24-52A= (n.24-52A=) c.233A= (p.Asp78=) n.10A= | |
| 11 | g.2445331A>C | CA379116854 | KCNQ1 | c.24-52A>C (n.24-52A>C) c.233A>C (p.Asp78Ala) n.10A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445331A>G | CA379116855 | KCNQ1 | c.24-52A>G (n.24-52A>G) c.233A>G (p.Asp78Gly) n.10A>G | gnomAD v4 |
| 11 | g.2445331A>T | CA379116858 | KCNQ1 | c.24-52A>T (n.24-52A>T) c.233A>T (p.Asp78Val) n.10A>T | |
| 11 | g.2445332C>A | CA379116862 | KCNQ1 | c.24-51C>A (n.24-51C>A) c.234C>A (p.Asp78Glu) n.11C>A | |
| 11 | g.2445332C>G | CA379116865 | KCNQ1 | c.24-51C>G (n.24-51C>G) c.234C>G (p.Asp78Glu) n.11C>G | |
| 11 | g.2445332C>T | CA472416184 | KCNQ1 | c.24-51C>T (n.24-51C>T) c.234C>T (p.Asp78=) n.11C>T | |
| 11 | g.2445333C>A | CA379116868 | KCNQ1 | c.24-50C>A (n.24-50C>A) c.235C>A (p.Leu79Ile) n.12C>A | gnomAD v4 |
| 11 | g.2445333C>G | CA379116869 | KCNQ1 | c.24-50C>G (n.24-50C>G) c.235C>G (p.Leu79Val) n.12C>G | |
| 11 | g.2445333C>T | CA379116873 | KCNQ1 | c.24-50C>T (n.24-50C>T) c.235C>T (p.Leu79Phe) n.12C>T | ClinVar gnomAD v4 |
| 11 | g.2445334T>A | CA379116875 | KCNQ1 | c.24-49T>A (n.24-49T>A) c.236T>A (p.Leu79His) n.13T>A | |
| 11 | g.2445334T>C | CA379116876 | KCNQ1 | c.24-49T>C (n.24-49T>C) c.236T>C (p.Leu79Pro) n.13T>C | |
| 11 | g.2445334T>G | CA379116874 | KCNQ1 | c.24-49T>G (n.24-49T>G) c.236T>G (p.Leu79Arg) n.13T>G | |
| 11 | g.2445335T>A | CA472416185 | KCNQ1 | c.24-48T>A (n.24-48T>A) c.237T>A (p.Leu79=) n.14T>A | |
| 11 | g.2445335T>C | CA472416186 | KCNQ1 | c.24-48T>C (n.24-48T>C) c.237T>C (p.Leu79=) n.14T>C | gnomAD v4 |
| 11 | g.2445335T>G | CA472416187 | KCNQ1 | c.24-48T>G (n.24-48T>G) c.237T>G (p.Leu79=) n.14T>G | |
| 11 | g.2445336G>A | CA379116879 | KCNQ1 | c.24-47G>A (n.24-47G>A) c.238G>A (p.Gly80Ser) n.15G>A | |
| 11 | g.2445336G>C | CA379116881 | KCNQ1 | c.24-47G>C (n.24-47G>C) c.238G>C (p.Gly80Arg) n.15G>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445336G= | CA1948160959 | KCNQ1 | c.24-47G= (n.24-47G=) c.238G= (p.Gly80=) n.15G= | |
| 11 | g.2445336G>T | CA379116884 | KCNQ1 | c.24-47G>T (n.24-47G>T) c.238G>T (p.Gly80Cys) n.15G>T | gnomAD v4 |
| 11 | g.2445337G>A | CA379116893 | KCNQ1 | c.24-46G>A (n.24-46G>A) c.239G>A (p.Gly80Asp) n.16G>A | gnomAD v4 |
| 11 | g.2445337G>C | CA379116894 | KCNQ1 | c.24-46G>C (n.24-46G>C) c.239G>C (p.Gly80Ala) n.16G>C | ClinVar dbSNP |
| 11 | g.2445337G= | CA1948160960 | KCNQ1 | c.24-46G= (n.24-46G=) c.239G= (p.Gly80=) n.16G= | |
| 11 | g.2445337G>T | CA379116895 | KCNQ1 | c.24-46G>T (n.24-46G>T) c.239G>T (p.Gly80Val) n.16G>T | gnomAD v4 |
| 11 | g.2445338C>A | CA472416188 | KCNQ1 | c.24-45C>A (n.24-45C>A) c.240C>A (p.Gly80=) n.17C>A | gnomAD v4 |
| 11 | g.2445338C= | CA1948160961 | KCNQ1 | c.24-45C= (n.24-45C=) c.240C= (p.Gly80=) n.17C= | |
| 11 | g.2445338C>G | CA472416189 | KCNQ1 | c.24-45C>G (n.24-45C>G) c.240C>G (p.Gly80=) n.17C>G | gnomAD v4 |
| 11 | g.2445338C>T | CA034559 | KCNQ1 | c.24-45C>T (n.24-45C>T) c.240C>T (p.Gly80=) n.17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445339C>A | CA379116898 | KCNQ1 | c.24-44C>A (n.24-44C>A) c.241C>A (p.Pro81Thr) n.18C>A | |
| 11 | g.2445339C= | CA1948160962 | KCNQ1 | c.24-44C= (n.24-44C=) c.241C= (p.Pro81=) n.18C= | |
| 11 | g.2445339C>G | CA379116901 | KCNQ1 | c.24-44C>G (n.24-44C>G) c.241C>G (p.Pro81Ala) n.18C>G | |
| 11 | g.2445339C>T | CA379116904 | KCNQ1 | c.24-44C>T (n.24-44C>T) c.241C>T (p.Pro81Ser) n.18C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445340C>A | CA379116910 | KCNQ1 | c.24-43C>A (n.24-43C>A) c.242C>A (p.Pro81Gln) n.19C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2445340C= | CA1948160963 | KCNQ1 | c.24-43C= (n.24-43C=) c.242C= (p.Pro81=) n.19C= | |
| 11 | g.2445340C>G | CA379116912 | KCNQ1 | c.24-43C>G (n.24-43C>G) c.242C>G (p.Pro81Arg) n.19C>G | gnomAD v4 |
| 11 | g.2445340C>T | CA006744 | KCNQ1 | c.24-43C>T (n.24-43C>T) c.242C>T (p.Pro81Leu) n.19C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445340_2445362delinsGCGCCCGCGG | CA658761314 | KCNQ1 | c.24-43_24-21delinsGCGCCCGCGG (n.24-43_24-21delinsGCGCCCGCGG) c.242_264delinsGCGCCCGCGG (p.Pro81ArgfsTer?) n.19_41delinsGCGCCCGCGG | |
| 11 | g.2445341G>A | CA472416190 | KCNQ1 | c.24-42G>A (n.24-42G>A) c.243G>A (p.Pro81=) n.20G>A | gnomAD v4 |
| 11 | g.2445341G>C | CA472416191 | KCNQ1 | c.24-42G>C (n.24-42G>C) c.243G>C (p.Pro81=) n.20G>C | |
| 11 | g.2445341G>T | CA472416192 | KCNQ1 | c.24-42G>T (n.24-42G>T) c.243G>T (p.Pro81=) n.20G>T | gnomAD v4 |
| 11 | g.2445342C>A | CA472416193 | KCNQ1 | c.24-41C>A (n.24-41C>A) c.244C>A (p.Arg82=) n.21C>A | gnomAD v4 |
| 11 | g.2445342C>G | CA379116927 | KCNQ1 | c.24-41C>G (n.24-41C>G) c.244C>G (p.Arg82Gly) n.21C>G | |
| 11 | g.2445342C>T | CA379116923 | KCNQ1 | c.24-41C>T (n.24-41C>T) c.244C>T (p.Arg82Trp) n.21C>T | gnomAD v4 |
| 11 | g.2445343G>A | CA379116930 | KCNQ1 | c.24-40G>A (n.24-40G>A) c.245G>A (p.Arg82Gln) n.22G>A | gnomAD v4 |
| 11 | g.2445343G>C | CA379116932 | KCNQ1 | c.24-40G>C (n.24-40G>C) c.245G>C (p.Arg82Pro) n.22G>C | |
| 11 | g.2445343G>T | CA379116938 | KCNQ1 | c.24-40G>T (n.24-40G>T) c.245G>T (p.Arg82Leu) n.22G>T | gnomAD v4 |
| 11 | g.2445344del | CA2612000153 | KCNQ1 | c.24-39del (n.24-39del) c.246del (p.Pro83ArgfsTer3) n.23del | gnomAD v4 |