Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175011C>A | CA2639594061 | KCNJ2 | c.-29C>A (n.-29C>A) | gnomAD v4 |
17 | g.70175011C>T | CA2639594062 | KCNJ2 | c.-29C>T (n.-29C>T) | gnomAD v4 |
17 | g.70175012A= | CA2272996379 | KCNJ2 | c.-28A= (n.-28A=) | |
17 | g.70175012A>G | CA8738666 | KCNJ2 | c.-28A>G (n.-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175014A= | CA2272996380 | KCNJ2 | c.-26A= (n.-26A=) | |
17 | g.70175014A>G | CA774603820 | KCNJ2 | c.-26A>G (n.-26A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175016G>A | CA8738667 | KCNJ2 | c.-24G>A (n.-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175016G= | CA2272996381 | KCNJ2 | c.-24G= (n.-24G=) | |
17 | g.70175017C>A | CA2639594063 | KCNJ2 | c.-23C>A (n.-23C>A) | gnomAD v4 |
17 | g.70175017C>G | CA2639594064 | KCNJ2 | c.-23C>G (n.-23C>G) | gnomAD v4 |
17 | g.70175018A= | CA2272996382 | KCNJ2 | c.-22A= (n.-22A=) | |
17 | g.70175018A>G | CA8738668 | KCNJ2 | c.-22A>G (n.-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175020T>C | CA2510615296 | KCNJ2 | c.-20T>C (n.-20T>C) | |
17 | g.70175020T>G | CA2639594065 | KCNJ2 | c.-20T>G (n.-20T>G) | gnomAD v4 |
17 | g.70175021G>A | CA985917828 | KCNJ2 | c.-19G>A (n.-19G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175021G= | CA2272996383 | KCNJ2 | c.-19G= (n.-19G=) | |
17 | g.70175021G>T | CA2546131508 | KCNJ2 | c.-19G>T (n.-19G>T) | |
17 | g.70175022G>A | CA774603835 | KCNJ2 | c.-18G>A (n.-18G>A) | dbSNP |
17 | g.70175022G>C | CA2526541396 | KCNJ2 | c.-18G>C (n.-18G>C) | |
17 | g.70175022G= | CA2272996384 | KCNJ2 | c.-18G= (n.-18G=) | |
17 | g.70175023A= | CA2272996385 | KCNJ2 | c.-17A= (n.-17A=) | |
17 | g.70175023A>G | CA2272996386 | KCNJ2 | c.-17A>G (n.-17A>G) | dbSNP |
17 | g.70175024G>A | CA8738669 | KCNJ2 | c.-16G>A (n.-16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175024G= | CA2272996387 | KCNJ2 | c.-16G= (n.-16G=) | |
17 | g.70175024G>T | CA627290087 | KCNJ2 | c.-16G>T (n.-16G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175025T>A | CA2639594066 | KCNJ2 | c.-15T>A (n.-15T>A) | gnomAD v4 |
17 | g.70175025T>C | CA2272996389 | KCNJ2 | c.-15T>C (n.-15T>C) | dbSNP |
17 | g.70175025T= | CA2272996388 | KCNJ2 | c.-15T= (n.-15T=) | |
17 | g.70175026C>A | CA8738670 | KCNJ2 | c.-14C>A (n.-14C>A) | dbSNP ExAC gnomAD v4 |
17 | g.70175026C= | CA2272996390 | KCNJ2 | c.-14C= (n.-14C=) | |
17 | g.70175026C>T | CA8738671 | KCNJ2 | c.-14C>T (n.-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175027C>A | CA2639594067 | KCNJ2 | c.-13C>A (n.-13C>A) | gnomAD v4 |
17 | g.70175027C= | CA2272996391 | KCNJ2 | c.-13C= (n.-13C=) | |
17 | g.70175027C>T | CA8738672 | KCNJ2 | c.-13C>T (n.-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175027_70175028insA | CA656856277 | KCNJ2 | c.-13_-12insA (n.-13_-12insA) | COSMIC |
17 | g.70175028C>A | CA2518237001 | KCNJ2 | c.-12C>A (n.-12C>A) | |
17 | g.70175029C>A | CA293702893 | KCNJ2 | c.-11C>A (n.-11C>A) | dbSNP gnomAD v4 |
17 | g.70175029C= | CA2272996392 | KCNJ2 | c.-11C= (n.-11C=) | |
17 | g.70175030A>G | CA2639594068 | KCNJ2 | c.-10A>G (n.-10A>G) | gnomAD v4 |
17 | g.70175030A>T | CA2639594069 | KCNJ2 | c.-10A>T (n.-10A>T) | gnomAD v4 |
17 | g.70175032C>A | CA774603847 | KCNJ2 | c.-8C>A (n.-8C>A) | dbSNP |
17 | g.70175032C= | CA2272996393 | KCNJ2 | c.-8C= (n.-8C=) | |
17 | g.70175032C>G | CA8738673 | KCNJ2 | c.-8C>G (n.-8C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175035A= | CA2272996394 | KCNJ2 | c.-5A= (n.-5A=) | |
17 | g.70175035A>C | CA774603856 | KCNJ2 | c.-5A>C (n.-5A>C) | dbSNP |
17 | g.70175035A>T | CA2540473413 | KCNJ2 | c.-5A>T (n.-5A>T) | gnomAD v4 |
17 | g.70175036A= | CA2272996395 | KCNJ2 | c.-4A= (n.-4A=) | |
17 | g.70175036A>C | CA985917836 | KCNJ2 | c.-4A>C (n.-4A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175036A>G | CA774603862 | KCNJ2 | c.-4A>G (n.-4A>G) | dbSNP |
17 | g.70175037G>A | CA2576374380 | KCNJ2 | c.-3G>A (n.-3G>A) | ClinVar |
17 | g.70175038C= | CA2272996396 | KCNJ2 | c.-2C= (n.-2C=) | |
17 | g.70175038C>G | CA985917844 | KCNJ2 | c.-2C>G (n.-2C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175038C>T | CA8738674 | KCNJ2 | c.-2C>T (n.-2C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175039G>A | CA8738675 | KCNJ2 | c.-1G>A (n.-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175039G= | CA2272996397 | KCNJ2 | c.-1G= (n.-1G=) | |
17 | g.70175039G>T | CA8738676 | KCNJ2 | c.-1G>T (n.-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175040A>C | CA400859460 | KCNJ2 | c.1A>C (p.Met1Leu) | |
17 | g.70175040A>G | CA400859461 | KCNJ2 | c.1A>G (p.Met1Val) | |
17 | g.70175040A>T | CA400859462 | KCNJ2 | c.1A>T (p.Met1Leu) | |
17 | g.70175041T>A | CA400859463 | KCNJ2 | c.2T>A (p.Met1Lys) | |
17 | g.70175041T>C | CA302009 | KCNJ2 | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.70175041T>G | CA400859464 | KCNJ2 | c.2T>G (p.Met1Arg) | |
17 | g.70175041T= | CA2272996398 | KCNJ2 | c.2T= (p.Met1=) | |
17 | g.70175042G>A | CA400859466 | KCNJ2 | c.3G>A (p.Met1Ile) | |
17 | g.70175042G>C | CA400859467 | KCNJ2 | c.3G>C (p.Met1Ile) | |
17 | g.70175042G>T | CA400859465 | KCNJ2 | c.3G>T (p.Met1Ile) | |
17 | g.70175043G>A | CA400859468 | KCNJ2 | c.4G>A (p.Gly2Ser) | |
17 | g.70175043G>C | CA400859469 | KCNJ2 | c.4G>C (p.Gly2Arg) | ClinVar |
17 | g.70175043G>T | CA400859470 | KCNJ2 | c.4G>T (p.Gly2Cys) | |
17 | g.70175044G>A | CA400859471 | KCNJ2 | c.5G>A (p.Gly2Asp) | |
17 | g.70175044G>C | CA400859472 | KCNJ2 | c.5G>C (p.Gly2Ala) | |
17 | g.70175044G= | CA2272996399 | KCNJ2 | c.5G= (p.Gly2=) | |
17 | g.70175044G>T | CA400859473 | KCNJ2 | c.5G>T (p.Gly2Val) | |
17 | g.70175044_70175045insAAGTGTGCGAACCAACCGCTA | CA985917862 | KCNJ2 | c.5_6insAAGTGTGCGAACCAACCGCTA (p.Gly2_Ser3insSerValArgThrAsnArgTyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175045C>A | CA501682279 | KCNJ2 | c.6C>A (p.Gly2=) | dbSNP |
17 | g.70175045C= | CA2272996400 | KCNJ2 | c.6C= (p.Gly2=) | |
17 | g.70175045C>G | CA501682280 | KCNJ2 | c.6C>G (p.Gly2=) | |
17 | g.70175045C>T | CA501682281 | KCNJ2 | c.6C>T (p.Gly2=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175046A>C | CA400859474 | KCNJ2 | c.7A>C (p.Ser3Arg) | |
17 | g.70175046A>G | CA400859476 | KCNJ2 | c.7A>G (p.Ser3Gly) | |
17 | g.70175046A>T | CA400859475 | KCNJ2 | c.7A>T (p.Ser3Cys) | |
17 | g.70175047G>A | CA400859477 | KCNJ2 | c.8G>A (p.Ser3Asn) | |
17 | g.70175047G>C | CA400859478 | KCNJ2 | c.8G>C (p.Ser3Thr) | ClinVar |
17 | g.70175047G>T | CA400859479 | KCNJ2 | c.8G>T (p.Ser3Ile) | |
17 | g.70175048T>A | CA400859480 | KCNJ2 | c.9T>A (p.Ser3Arg) | |
17 | g.70175048T>C | CA501682282 | KCNJ2 | c.9T>C (p.Ser3=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175048T>G | CA400859481 | KCNJ2 | c.9T>G (p.Ser3Arg) | gnomAD v4 |
17 | g.70175048T= | CA2272996401 | KCNJ2 | c.9T= (p.Ser3=) | |
17 | g.70175049G>A | CA8738677 | KCNJ2 | c.10G>A (p.Val4Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175049G>C | CA400859483 | KCNJ2 | c.10G>C (p.Val4Leu) | |
17 | g.70175049G= | CA2272996402 | KCNJ2 | c.10G= (p.Val4=) | |
17 | g.70175049G>T | CA400859482 | KCNJ2 | c.10G>T (p.Val4Leu) | |
17 | g.70175050T>A | CA400859484 | KCNJ2 | c.11T>A (p.Val4Glu) | dbSNP |
17 | g.70175050T>C | CA400859485 | KCNJ2 | c.11T>C (p.Val4Ala) | |
17 | g.70175050T>G | CA400859486 | KCNJ2 | c.11T>G (p.Val4Gly) | |
17 | g.70175050T= | CA2272996403 | KCNJ2 | c.11T= (p.Val4=) | |
17 | g.70175051G>A | CA501682283 | KCNJ2 | c.12G>A (p.Val4=) | dbSNP |
17 | g.70175051G>C | CA501682284 | KCNJ2 | c.12G>C (p.Val4=) | |
17 | g.70175051G= | CA2272996404 | KCNJ2 | c.12G= (p.Val4=) | |
17 | g.70175051G>T | CA501682285 | KCNJ2 | c.12G>T (p.Val4=) | |
17 | g.70175052C>A | CA293702894 | KCNJ2 | c.13C>A (p.Arg5=) | dbSNP gnomAD v4 |
17 | g.70175052C= | CA2272996405 | KCNJ2 | c.13C= (p.Arg5=) | |
17 | g.70175052C>G | CA293702895 | KCNJ2 | c.13C>G (p.Arg5Gly) | ClinVar dbSNP |
17 | g.70175052C>T | CA400859487 | KCNJ2 | c.13C>T (p.Arg5Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175053G>A | CA8738678 | KCNJ2 | c.14G>A (p.Arg5Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175053G>C | CA400859488 | KCNJ2 | c.14G>C (p.Arg5Pro) | |
17 | g.70175053G= | CA2272996406 | KCNJ2 | c.14G= (p.Arg5=) | |
17 | g.70175053G>T | CA400859489 | KCNJ2 | c.14G>T (p.Arg5Leu) | gnomAD v4 COSMIC |
17 | g.70175054A>C | CA501682286 | KCNJ2 | c.15A>C (p.Arg5=) | |
17 | g.70175054A>G | CA501682287 | KCNJ2 | c.15A>G (p.Arg5=) | |
17 | g.70175054A>T | CA501682288 | KCNJ2 | c.15A>T (p.Arg5=) | |
17 | g.70175055A= | CA2272996407 | KCNJ2 | c.16A= (p.Thr6=) | |
17 | g.70175055A>C | CA400859490 | KCNJ2 | c.16A>C (p.Thr6Pro) | dbSNP |
17 | g.70175055A>G | CA400859491 | KCNJ2 | c.16A>G (p.Thr6Ala) | gnomAD v4 |
17 | g.70175055A>T | CA400859492 | KCNJ2 | c.16A>T (p.Thr6Ser) | ClinVar |
17 | g.70175056C>A | CA400859493 | KCNJ2 | c.17C>A (p.Thr6Asn) | |
17 | g.70175056C= | CA2272996408 | KCNJ2 | c.17C= (p.Thr6=) | |
17 | g.70175056C>G | CA400859494 | KCNJ2 | c.17C>G (p.Thr6Ser) | gnomAD v4 |
17 | g.70175056C>T | CA8738679 | KCNJ2 | c.17C>T (p.Thr6Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175057C>A | CA501682289 | KCNJ2 | c.18C>A (p.Thr6=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175057C>G | CA501682290 | KCNJ2 | c.18C>G (p.Thr6=) | |
17 | g.70175057C>T | CA501682291 | KCNJ2 | c.18C>T (p.Thr6=) | |
17 | g.70175058A>C | CA400859495 | KCNJ2 | c.19A>C (p.Asn7His) | |
17 | g.70175058A>G | CA400859497 | KCNJ2 | c.19A>G (p.Asn7Asp) | |
17 | g.70175058A>T | CA400859496 | KCNJ2 | c.19A>T (p.Asn7Tyr) | |
17 | g.70175059A>C | CA400859498 | KCNJ2 | c.20A>C (p.Asn7Thr) | |
17 | g.70175059A>G | CA400859499 | KCNJ2 | c.20A>G (p.Asn7Ser) | |
17 | g.70175059A>T | CA400859500 | KCNJ2 | c.20A>T (p.Asn7Ile) | |
17 | g.70175060C>A | CA400859501 | KCNJ2 | c.21C>A (p.Asn7Lys) | |
17 | g.70175060C= | CA2272996409 | KCNJ2 | c.21C= (p.Asn7=) | |
17 | g.70175060C>G | CA400859502 | KCNJ2 | c.21C>G (p.Asn7Lys) | ClinVar |
17 | g.70175060C>T | CA501682292 | KCNJ2 | c.21C>T (p.Asn7=) | dbSNP |
17 | g.70175061C>A | CA400859503 | KCNJ2 | c.22C>A (p.Arg8Ser) | gnomAD v4 |
17 | g.70175061C= | CA2272996410 | KCNJ2 | c.22C= (p.Arg8=) | |
17 | g.70175061C>G | CA400859504 | KCNJ2 | c.22C>G (p.Arg8Gly) | |
17 | g.70175061C>T | CA8738680 | KCNJ2 | c.22C>T (p.Arg8Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175062G>A | CA8738681 | KCNJ2 | c.23G>A (p.Arg8His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175062G>C | CA400859505 | KCNJ2 | c.23G>C (p.Arg8Pro) | |
17 | g.70175062G= | CA2272996411 | KCNJ2 | c.23G= (p.Arg8=) | |
17 | g.70175062G>T | CA400859506 | KCNJ2 | c.23G>T (p.Arg8Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175063C>A | CA501682293 | KCNJ2 | c.24C>A (p.Arg8=) | gnomAD v4 |
17 | g.70175063C= | CA2272996412 | KCNJ2 | c.24C= (p.Arg8=) | |
17 | g.70175063C>G | CA501682294 | KCNJ2 | c.24C>G (p.Arg8=) | |
17 | g.70175063C>T | CA8738682 | KCNJ2 | c.24C>T (p.Arg8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175064T>A | CA400859509 | KCNJ2 | c.25T>A (p.Tyr9Asn) | |
17 | g.70175064T>C | CA400859507 | KCNJ2 | c.25T>C (p.Tyr9His) | |
17 | g.70175064T>G | CA400859508 | KCNJ2 | c.25T>G (p.Tyr9Asp) | |
17 | g.70175065A>C | CA400859510 | KCNJ2 | c.26A>C (p.Tyr9Ser) | |
17 | g.70175065A>G | CA400859511 | KCNJ2 | c.26A>G (p.Tyr9Cys) | |
17 | g.70175065A>T | CA400859512 | KCNJ2 | c.26A>T (p.Tyr9Phe) | |
17 | g.70175066C>A | CA400859513 | KCNJ2 | c.27C>A (p.Tyr9Ter) | |
17 | g.70175066C>G | CA400859514 | KCNJ2 | c.27C>G (p.Tyr9Ter) | |
17 | g.70175066C>T | CA501682295 | KCNJ2 | c.27C>T (p.Tyr9=) | gnomAD v4 |
17 | g.70175067A= | CA2272996413 | KCNJ2 | c.28A= (p.Ser10=) | |
17 | g.70175067A>C | CA400859515 | KCNJ2 | c.28A>C (p.Ser10Arg) | |
17 | g.70175067A>G | CA400859516 | KCNJ2 | c.28A>G (p.Ser10Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175067A>T | CA400859517 | KCNJ2 | c.28A>T (p.Ser10Cys) | |
17 | g.70175068G>A | CA400859700 | KCNJ2 | c.29G>A (p.Ser10Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175068G>C | CA400859701 | KCNJ2 | c.29G>C (p.Ser10Thr) | |
17 | g.70175068G= | CA2272996414 | KCNJ2 | c.29G= (p.Ser10=) | |
17 | g.70175068G>T | CA400859702 | KCNJ2 | c.29G>T (p.Ser10Ile) | |
17 | g.70175069C>A | CA400859703 | KCNJ2 | c.30C>A (p.Ser10Arg) | |
17 | g.70175069C>G | CA400859704 | KCNJ2 | c.30C>G (p.Ser10Arg) | |
17 | g.70175069C>T | CA501700105 | KCNJ2 | c.30C>T (p.Ser10=) | |
17 | g.70175070A= | CA2272996415 | KCNJ2 | c.31A= (p.Ile11=) | |
17 | g.70175070A>C | CA400859706 | KCNJ2 | c.31A>C (p.Ile11Leu) | |
17 | g.70175070A>G | CA293702896 | KCNJ2 | c.31A>G (p.Ile11Val) | ClinVar dbSNP |
17 | g.70175070A>T | CA400859705 | KCNJ2 | c.31A>T (p.Ile11Phe) | |
17 | g.70175071T>A | CA400859707 | KCNJ2 | c.32T>A (p.Ile11Asn) | |
17 | g.70175071T>C | CA400859708 | KCNJ2 | c.32T>C (p.Ile11Thr) | |
17 | g.70175071T>G | CA400859709 | KCNJ2 | c.32T>G (p.Ile11Ser) | |
17 | g.70175072C>A | CA501700109 | KCNJ2 | c.33C>A (p.Ile11=) | |
17 | g.70175072C= | CA2272996416 | KCNJ2 | c.33C= (p.Ile11=) | |
17 | g.70175072C>G | CA400859710 | KCNJ2 | c.33C>G (p.Ile11Met) | |
17 | g.70175072C>T | CA501700110 | KCNJ2 | c.33C>T (p.Ile11=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175073G>A | CA400859711 | KCNJ2 | c.34G>A (p.Val12Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175073G>C | CA400859712 | KCNJ2 | c.34G>C (p.Val12Leu) | |
17 | g.70175073G= | CA2272996417 | KCNJ2 | c.34G= (p.Val12=) | |
17 | g.70175073G>T | CA400859713 | KCNJ2 | c.34G>T (p.Val12Phe) | |
17 | g.70175074T>A | CA400859714 | KCNJ2 | c.35T>A (p.Val12Asp) | |
17 | g.70175074T>C | CA400859715 | KCNJ2 | c.35T>C (p.Val12Ala) | gnomAD v4 |
17 | g.70175074T>G | CA400859716 | KCNJ2 | c.35T>G (p.Val12Gly) | |
17 | g.70175075C>A | CA501700113 | KCNJ2 | c.36C>A (p.Val12=) | |
17 | g.70175075C= | CA2272996418 | KCNJ2 | c.36C= (p.Val12=) | |
17 | g.70175075C>G | CA501700114 | KCNJ2 | c.36C>G (p.Val12=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175075C>T | CA501700115 | KCNJ2 | c.36C>T (p.Val12=) | gnomAD v4 |
17 | g.70175076T>A | CA400859717 | KCNJ2 | c.37T>A (p.Ser13Thr) | |
17 | g.70175076T>C | CA400859718 | KCNJ2 | c.37T>C (p.Ser13Pro) | |
17 | g.70175076T>G | CA400859719 | KCNJ2 | c.37T>G (p.Ser13Ala) | |
17 | g.70175077C>A | CA400859721 | KCNJ2 | c.38C>A (p.Ser13Tyr) | |
17 | g.70175077C>G | CA400859722 | KCNJ2 | c.38C>G (p.Ser13Cys) | |
17 | g.70175077C>T | CA400859720 | KCNJ2 | c.38C>T (p.Ser13Phe) | |
17 | g.70175078T>A | CA501700118 | KCNJ2 | c.39T>A (p.Ser13=) | |
17 | g.70175078T>C | CA501700119 | KCNJ2 | c.39T>C (p.Ser13=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175078T>G | CA501700120 | KCNJ2 | c.39T>G (p.Ser13=) | |
17 | g.70175078T= | CA2272996419 | KCNJ2 | c.39T= (p.Ser13=) | |
17 | g.70175079T>A | CA400859723 | KCNJ2 | c.40T>A (p.Ser14Thr) | |
17 | g.70175079T>C | CA400859725 | KCNJ2 | c.40T>C (p.Ser14Pro) | |
17 | g.70175079T>G | CA400859724 | KCNJ2 | c.40T>G (p.Ser14Ala) | |
17 | g.70175080C>A | CA400859726 | KCNJ2 | c.41C>A (p.Ser14Ter) | |
17 | g.70175080C>G | CA400859727 | KCNJ2 | c.41C>G (p.Ser14Ter) | |
17 | g.70175080C>T | CA400859728 | KCNJ2 | c.41C>T (p.Ser14Leu) | gnomAD v4 COSMIC |
17 | g.70175081A>C | CA501700124 | KCNJ2 | c.42A>C (p.Ser14=) | |
17 | g.70175081A>G | CA501700125 | KCNJ2 | c.42A>G (p.Ser14=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175081A>T | CA501700126 | KCNJ2 | c.42A>T (p.Ser14=) | |
17 | g.70175087_70175089del | CA2576374381 | KCNJ2 | c.48_50del (p.Glu16del) | |
17 | g.70175082G>A | CA400859729 | KCNJ2 | c.43G>A (p.Glu15Lys) | |
17 | g.70175082G>C | CA400859730 | KCNJ2 | c.43G>C (p.Glu15Gln) | |
17 | g.70175082G>T | CA400859731 | KCNJ2 | c.43G>T (p.Glu15Ter) | COSMIC |
17 | g.70175083A>C | CA400859732 | KCNJ2 | c.44A>C (p.Glu15Ala) | |
17 | g.70175083A>G | CA400859733 | KCNJ2 | c.44A>G (p.Glu15Gly) | |
17 | g.70175083A>T | CA400859734 | KCNJ2 | c.44A>T (p.Glu15Val) | |
17 | g.70175084A= | CA2272996420 | KCNJ2 | c.45A= (p.Glu15=) | |
17 | g.70175084A>C | CA400859735 | KCNJ2 | c.45A>C (p.Glu15Asp) | |
17 | g.70175084A>G | CA501700130 | KCNJ2 | c.45A>G (p.Glu15=) | dbSNP |
17 | g.70175084A>T | CA400859736 | KCNJ2 | c.45A>T (p.Glu15Asp) | COSMIC |
17 | g.70175085G>A | CA400859739 | KCNJ2 | c.46G>A (p.Glu16Lys) | COSMIC |
17 | g.70175085G>C | CA400859737 | KCNJ2 | c.46G>C (p.Glu16Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175085G= | CA2272996421 | KCNJ2 | c.46G= (p.Glu16=) | |
17 | g.70175085G>T | CA400859738 | KCNJ2 | c.46G>T (p.Glu16Ter) | |
17 | g.70175086A= | CA2272996422 | KCNJ2 | c.47A= (p.Glu16=) | |
17 | g.70175086A>C | CA400859740 | KCNJ2 | c.47A>C (p.Glu16Ala) | |
17 | g.70175086A>G | CA8738683 | KCNJ2 | c.47A>G (p.Glu16Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175086A>T | CA400859741 | KCNJ2 | c.47A>T (p.Glu16Val) | |
17 | g.70175087A= | CA2272996423 | KCNJ2 | c.48A= (p.Glu16=) | |
17 | g.70175087A>C | CA400859742 | KCNJ2 | c.48A>C (p.Glu16Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175087A>G | CA501700134 | KCNJ2 | c.48A>G (p.Glu16=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175087A>T | CA400859743 | KCNJ2 | c.48A>T (p.Glu16Asp) | |
17 | g.70175088G>A | CA400859744 | KCNJ2 | c.49G>A (p.Asp17Asn) | ClinVar dbSNP |
17 | g.70175088G>C | CA400859745 | KCNJ2 | c.49G>C (p.Asp17His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175088G= | CA2272996424 | KCNJ2 | c.49G= (p.Asp17=) | |
17 | g.70175088G>T | CA400859746 | KCNJ2 | c.49G>T (p.Asp17Tyr) | |
17 | g.70175089A= | CA2272996425 | KCNJ2 | c.50A= (p.Asp17=) | |
17 | g.70175089A>C | CA400859747 | KCNJ2 | c.50A>C (p.Asp17Ala) | |
17 | g.70175089A>G | CA8738684 | KCNJ2 | c.50A>G (p.Asp17Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175089A>T | CA400859748 | KCNJ2 | c.50A>T (p.Asp17Val) | |
17 | g.70175090C>A | CA400859749 | KCNJ2 | c.51C>A (p.Asp17Glu) | |
17 | g.70175090C= | CA2272996426 | KCNJ2 | c.51C= (p.Asp17=) | |
17 | g.70175090C>G | CA400859750 | KCNJ2 | c.51C>G (p.Asp17Glu) | |
17 | g.70175090C>T | CA8738685 | KCNJ2 | c.51C>T (p.Asp17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175091G>A | CA293702897 | KCNJ2 | c.52G>A (p.Gly18Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175091G>C | CA400859751 | KCNJ2 | c.52G>C (p.Gly18Arg) | ClinVar |
17 | g.70175091G= | CA2272996427 | KCNJ2 | c.52G= (p.Gly18=) | |
17 | g.70175091G>T | CA400859752 | KCNJ2 | c.52G>T (p.Gly18Cys) | gnomAD v4 COSMIC |
17 | g.70175092G>A | CA400859753 | KCNJ2 | c.53G>A (p.Gly18Asp) | |
17 | g.70175092G>C | CA400859754 | KCNJ2 | c.53G>C (p.Gly18Ala) | |
17 | g.70175092G>T | CA400859755 | KCNJ2 | c.53G>T (p.Gly18Val) | |
17 | g.70175093T>A | CA501700138 | KCNJ2 | c.54T>A (p.Gly18=) | |
17 | g.70175093T>C | CA501700139 | KCNJ2 | c.54T>C (p.Gly18=) | gnomAD v4 |
17 | g.70175093T>G | CA501700140 | KCNJ2 | c.54T>G (p.Gly18=) | |
17 | g.70175094A>C | CA400859756 | KCNJ2 | c.55A>C (p.Met19Leu) | |
17 | g.70175094A>G | CA400859757 | KCNJ2 | c.55A>G (p.Met19Val) | gnomAD v4 |
17 | g.70175094A>T | CA400859758 | KCNJ2 | c.55A>T (p.Met19Leu) | |
17 | g.70175095T>A | CA400859759 | KCNJ2 | c.56T>A (p.Met19Lys) | |
17 | g.70175095T>C | CA400859760 | KCNJ2 | c.56T>C (p.Met19Thr) | |
17 | g.70175095T>G | CA400859761 | KCNJ2 | c.56T>G (p.Met19Arg) | |
17 | g.70175096G>A | CA400859763 | KCNJ2 | c.57G>A (p.Met19Ile) | gnomAD v4 |
17 | g.70175096G>C | CA400859764 | KCNJ2 | c.57G>C (p.Met19Ile) | |
17 | g.70175096G>T | CA400859762 | KCNJ2 | c.57G>T (p.Met19Ile) | |
17 | g.70175097A>C | CA400859765 | KCNJ2 | c.58A>C (p.Lys20Gln) | |
17 | g.70175097A>G | CA400859766 | KCNJ2 | c.58A>G (p.Lys20Glu) | |
17 | g.70175097A>T | CA400859767 | KCNJ2 | c.58A>T (p.Lys20Ter) | |
17 | g.70175098A>C | CA400859768 | KCNJ2 | c.59A>C (p.Lys20Thr) | |
17 | g.70175098A>G | CA400859769 | KCNJ2 | c.59A>G (p.Lys20Arg) | |
17 | g.70175098A>T | CA400859770 | KCNJ2 | c.59A>T (p.Lys20Met) | |
17 | g.70175099G>A | CA8738686 | KCNJ2 | c.60G>A (p.Lys20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175099G>C | CA400859772 | KCNJ2 | c.60G>C (p.Lys20Asn) | |
17 | g.70175099G= | CA2272996428 | KCNJ2 | c.60G= (p.Lys20=) | |
17 | g.70175099G>T | CA400859771 | KCNJ2 | c.60G>T (p.Lys20Asn) | |
17 | g.70175100T>A | CA400859773 | KCNJ2 | c.61T>A (p.Leu21Met) | |
17 | g.70175100T>C | CA501700145 | KCNJ2 | c.61T>C (p.Leu21=) | |
17 | g.70175100T>G | CA400859774 | KCNJ2 | c.61T>G (p.Leu21Val) | |
17 | g.70175101T>A | CA400859775 | KCNJ2 | c.62T>A (p.Leu21Ter) | |
17 | g.70175101T>C | CA400859776 | KCNJ2 | c.62T>C (p.Leu21Ser) | |
17 | g.70175101T>G | CA400859777 | KCNJ2 | c.62T>G (p.Leu21Trp) | |
17 | g.70175102G>A | CA501700149 | KCNJ2 | c.63G>A (p.Leu21=) | |
17 | g.70175102G>C | CA400859779 | KCNJ2 | c.63G>C (p.Leu21Phe) | |
17 | g.70175102G>T | CA400859778 | KCNJ2 | c.63G>T (p.Leu21Phe) | dbSNP |
17 | g.70175103G>A | CA400859780 | KCNJ2 | c.64G>A (p.Ala22Thr) | gnomAD v4 |
17 | g.70175103G>C | CA400859782 | KCNJ2 | c.64G>C (p.Ala22Pro) | |
17 | g.70175103G>T | CA400859781 | KCNJ2 | c.64G>T (p.Ala22Ser) | |
17 | g.70175104C>A | CA400859783 | KCNJ2 | c.65C>A (p.Ala22Asp) | |
17 | g.70175104C>G | CA400859785 | KCNJ2 | c.65C>G (p.Ala22Gly) | |
17 | g.70175104C>T | CA400859784 | KCNJ2 | c.65C>T (p.Ala22Val) | |
17 | g.70175105C>A | CA501700153 | KCNJ2 | c.66C>A (p.Ala22=) | |
17 | g.70175105C>G | CA501700154 | KCNJ2 | c.66C>G (p.Ala22=) | |
17 | g.70175105C>T | CA501700155 | KCNJ2 | c.66C>T (p.Ala22=) | COSMIC |
17 | g.70175106A>C | CA400859786 | KCNJ2 | c.67A>C (p.Thr23Pro) | |
17 | g.70175106A>G | CA400859788 | KCNJ2 | c.67A>G (p.Thr23Ala) | |
17 | g.70175106A>T | CA400859787 | KCNJ2 | c.67A>T (p.Thr23Ser) | |
17 | g.70175107C>A | CA400859789 | KCNJ2 | c.68C>A (p.Thr23Asn) | |
17 | g.70175107C>G | CA400859791 | KCNJ2 | c.68C>G (p.Thr23Ser) | |
17 | g.70175107C>T | CA400859790 | KCNJ2 | c.68C>T (p.Thr23Ile) | |
17 | g.70175108C>A | CA501700157 | KCNJ2 | c.69C>A (p.Thr23=) | |
17 | g.70175108C>G | CA501700158 | KCNJ2 | c.69C>G (p.Thr23=) | |
17 | g.70175108C>T | CA501700159 | KCNJ2 | c.69C>T (p.Thr23=) | gnomAD v4 |
17 | g.70175109A= | CA2272996429 | KCNJ2 | c.70A= (p.Met24=) | |
17 | g.70175109A>C | CA400859792 | KCNJ2 | c.70A>C (p.Met24Leu) | |
17 | g.70175109A>G | CA400859793 | KCNJ2 | c.70A>G (p.Met24Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175109A>T | CA400859794 | KCNJ2 | c.70A>T (p.Met24Leu) | |
17 | g.70175110T>A | CA400859795 | KCNJ2 | c.71T>A (p.Met24Lys) | gnomAD v4 |
17 | g.70175110T>C | CA400859796 | KCNJ2 | c.71T>C (p.Met24Thr) | dbSNP |
17 | g.70175110T>G | CA400859797 | KCNJ2 | c.71T>G (p.Met24Arg) | |
17 | g.70175110T= | CA2272996430 | KCNJ2 | c.71T= (p.Met24=) |