Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.135985621_135985632del | CA2694793261 | SLC9A6 | c.119_130del (p.Ala40_Ser43del) c.-38_-27del (n.-38_-27del) c.-35-3_-27del | gnomAD v4 |
X | g.135985624_135985633del | CA1137594995 | SLC9A6 | c.122_131del (p.Gly41AlafsTer?) c.-35_-26del (n.-35_-26del) | gnomAD v3 gnomAD v4 |
X | g.135985631G>A | CA518490479 | SLC9A6 | c.129G>A (p.Ser43=) c.-28G>A (n.-28G>A) | COSMIC COSMIC |
X | g.135985631G>C | CA518490480 | SLC9A6 | c.129G>C (p.Ser43=) c.-28G>C (n.-28G>C) | |
X | g.135985631G= | CA2460185435 | SLC9A6 | c.129G= (p.Ser43=) c.-28G= (n.-28G=) | |
X | g.135985631G>T | CA518490481 | SLC9A6 | c.129G>T (p.Ser43=) c.-28G>T (n.-28G>T) | |
X | g.135985632G>A | CA414606575 | SLC9A6 | c.130G>A (p.Asp44Asn) c.-27G>A (n.-27G>A) | ClinVar |
X | g.135985632G>C | CA414606576 | SLC9A6 | c.130G>C (p.Asp44His) c.-27G>C (n.-27G>C) | |
X | g.135985632G>T | CA414606577 | SLC9A6 | c.130G>T (p.Asp44Tyr) c.-27G>T (n.-27G>T) | |
X | g.135985633_135985635dup | CA644668639 | SLC9A6 | c.131_133dup (p.Asp44_Gly45insAsp) c.-26_-24dup (n.-26_-24dup) | dbSNP gnomAD v2 |
X | g.135985633A= | CA2460185436 | SLC9A6 | c.131A= (p.Asp44=) c.-26A= (n.-26A=) | |
X | g.135985633A>C | CA414606578 | SLC9A6 | c.131A>C (p.Asp44Ala) c.-26A>C (n.-26A>C) | |
X | g.135985633A>G | CA414606579 | SLC9A6 | c.131A>G (p.Asp44Gly) c.-26A>G (n.-26A>G) | |
X | g.135985633A>T | CA414606580 | SLC9A6 | c.131A>T (p.Asp44Val) c.-26A>T (n.-26A>T) | |
X | g.135985634C>A | CA414606582 | SLC9A6 | c.132C>A (p.Asp44Glu) c.-25C>A (n.-25C>A) | dbSNP gnomAD v4 |
X | g.135985634C= | CA2460185437 | SLC9A6 | c.132C= (p.Asp44=) c.-25C= (n.-25C=) | |
X | g.135985634C>G | CA414606581 | SLC9A6 | c.132C>G (p.Asp44Glu) c.-25C>G (n.-25C>G) | |
X | g.135985634C>T | CA518490487 | SLC9A6 | c.132C>T (p.Asp44=) c.-25C>T (n.-25C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985643_135985645dup | CA318540 | SLC9A6 | c.141_143dup (p.Gly48_Glu49insGly) c.-16_-14dup (n.-16_-14dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135985643_135985645del | CA2579709511 | SLC9A6 | c.141_143del (p.Gly48del) c.-16_-14del (n.-16_-14del) | gnomAD v4 |
X | g.135985635G>A | CA414606583 | SLC9A6 | c.133G>A (p.Gly45Ser) c.-24G>A (n.-24G>A) | |
X | g.135985635G>C | CA414606585 | SLC9A6 | c.133G>C (p.Gly45Arg) c.-24G>C (n.-24G>C) | |
X | g.135985635G= | CA2460185438 | SLC9A6 | c.133G= (p.Gly45=) c.-24G= (n.-24G=) | |
X | g.135985635G>T | CA414606584 | SLC9A6 | c.133G>T (p.Gly45Cys) c.-24G>T (n.-24G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135985636G>A | CA414606586 | SLC9A6 | c.134G>A (p.Gly45Asp) c.-23G>A (n.-23G>A) | ClinVar |
X | g.135985636G>C | CA414606587 | SLC9A6 | c.134G>C (p.Gly45Ala) c.-23G>C (n.-23G>C) | |
X | g.135985636G>T | CA414606588 | SLC9A6 | c.134G>T (p.Gly45Val) c.-23G>T (n.-23G>T) | |
X | g.135985637C>A | CA518490494 | SLC9A6 | c.135C>A (p.Gly45=) c.-22C>A (n.-22C>A) | |
X | g.135985637C= | CA2460185439 | SLC9A6 | c.135C= (p.Gly45=) c.-22C= (n.-22C=) | |
X | g.135985637C>G | CA518490496 | SLC9A6 | c.135C>G (p.Gly45=) c.-22C>G (n.-22C>G) | |
X | g.135985637C>T | CA10524596 | SLC9A6 | c.135C>T (p.Gly45=) c.-22C>T (n.-22C>T) | dbSNP ExAC gnomAD v2 |
X | g.135985638G>A | CA414606589 | SLC9A6 | c.136G>A (p.Gly46Ser) c.-21G>A (n.-21G>A) | |
X | g.135985638G>C | CA414606590 | SLC9A6 | c.136G>C (p.Gly46Arg) c.-21G>C (n.-21G>C) | |
X | g.135985638G>T | CA414606591 | SLC9A6 | c.136G>T (p.Gly46Cys) c.-21G>T (n.-21G>T) | |
X | g.135985639G>A | CA10524597 | SLC9A6 | c.137G>A (p.Gly46Asp) c.-20G>A (n.-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135985639G>C | CA414606592 | SLC9A6 | c.137G>C (p.Gly46Ala) c.-20G>C (n.-20G>C) | |
X | g.135985639G= | CA2460185440 | SLC9A6 | c.137G= (p.Gly46=) c.-20G= (n.-20G=) | |
X | g.135985639G>T | CA414606593 | SLC9A6 | c.137G>T (p.Gly46Val) c.-20G>T (n.-20G>T) | |
X | g.135985640C>A | CA336084334 | SLC9A6 | c.138C>A (p.Gly46=) c.-19C>A (n.-19C>A) | ClinVar dbSNP gnomAD v4 |
X | g.135985640C= | CA2460185441 | SLC9A6 | c.138C= (p.Gly46=) c.-19C= (n.-19C=) | |
X | g.135985640C>G | CA518490502 | SLC9A6 | c.138C>G (p.Gly46=) c.-19C>G (n.-19C>G) | |
X | g.135985640C>T | CA518490503 | SLC9A6 | c.138C>T (p.Gly46=) c.-19C>T (n.-19C>T) | |
X | g.135985641G>A | CA414606594 | SLC9A6 | c.139G>A (p.Gly47Ser) c.-18G>A (n.-18G>A) | |
X | g.135985641G>C | CA414606595 | SLC9A6 | c.139G>C (p.Gly47Arg) c.-18G>C (n.-18G>C) | |
X | g.135985641G>T | CA414606596 | SLC9A6 | c.139G>T (p.Gly47Cys) c.-18G>T (n.-18G>T) | |
X | g.135985642G>A | CA414606599 | SLC9A6 | c.140G>A (p.Gly47Asp) c.-17G>A (n.-17G>A) | |
X | g.135985642G>C | CA414606598 | SLC9A6 | c.140G>C (p.Gly47Ala) c.-17G>C (n.-17G>C) | |
X | g.135985642G>T | CA414606597 | SLC9A6 | c.140G>T (p.Gly47Val) c.-17G>T (n.-17G>T) | |
X | g.135985643C>A | CA518490507 | SLC9A6 | c.141C>A (p.Gly47=) c.-16C>A (n.-16C>A) | |
X | g.135985643C= | CA2460185442 | SLC9A6 | c.141C= (p.Gly47=) c.-16C= (n.-16C=) | |
X | g.135985643C>G | CA518490508 | SLC9A6 | c.141C>G (p.Gly47=) c.-16C>G (n.-16C>G) | |
X | g.135985643C>T | CA293620 | SLC9A6 | c.141C>T (p.Gly47=) c.-16C>T (n.-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985644G>A | CA414606600 | SLC9A6 | c.142G>A (p.Gly48Arg) c.-15G>A (n.-15G>A) | |
X | g.135985644G>C | CA10524598 | SLC9A6 | c.142G>C (p.Gly48Arg) c.-15G>C (n.-15G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135985644G= | CA2460185443 | SLC9A6 | c.142G= (p.Gly48=) c.-15G= (n.-15G=) | |
X | g.135985644G>T | CA414606601 | SLC9A6 | c.142G>T (p.Gly48Ter) c.-15G>T (n.-15G>T) | |
X | g.135985645G>A | CA414606604 | SLC9A6 | c.143G>A (p.Gly48Glu) c.-14G>A (n.-14G>A) | |
X | g.135985645G>C | CA414606603 | SLC9A6 | c.143G>C (p.Gly48Ala) c.-14G>C (n.-14G>C) | |
X | g.135985645G>T | CA414606602 | SLC9A6 | c.143G>T (p.Gly48Val) c.-14G>T (n.-14G>T) | |
X | g.135985646A= | CA2460185444 | SLC9A6 | c.144A= (p.Gly48=) c.-13A= (n.-13A=) | |
X | g.135985646A>C | CA518490514 | SLC9A6 | c.144A>C (p.Gly48=) c.-13A>C (n.-13A>C) | ClinVar dbSNP |
X | g.135985646A>G | CA518490515 | SLC9A6 | c.144A>G (p.Gly48=) c.-13A>G (n.-13A>G) | |
X | g.135985646A>T | CA518490517 | SLC9A6 | c.144A>T (p.Gly48=) c.-13A>T (n.-13A>T) | |
X | g.135985647G>A | CA414606605 | SLC9A6 | c.145G>A (p.Glu49Lys) c.-12G>A (n.-12G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.135985647G>C | CA414606606 | SLC9A6 | c.145G>C (p.Glu49Gln) c.-12G>C (n.-12G>C) | |
X | g.135985647G= | CA2460185445 | SLC9A6 | c.145G= (p.Glu49=) c.-12G= (n.-12G=) | |
X | g.135985647G>T | CA414606607 | SLC9A6 | c.145G>T (p.Glu49Ter) c.-12G>T (n.-12G>T) | |
X | g.135985648A>C | CA414606608 | SLC9A6 | c.146A>C (p.Glu49Ala) c.-11A>C (n.-11A>C) | |
X | g.135985648A>G | CA414606609 | SLC9A6 | c.146A>G (p.Glu49Gly) c.-11A>G (n.-11A>G) | |
X | g.135985648A>T | CA414606610 | SLC9A6 | c.146A>T (p.Glu49Val) c.-11A>T (n.-11A>T) | |
X | g.135985649G>A | CA10524599 | SLC9A6 | c.147G>A (p.Glu49=) c.-10G>A (n.-10G>A) | dbSNP ExAC |
X | g.135985649G>C | CA414606612 | SLC9A6 | c.147G>C (p.Glu49Asp) c.-10G>C (n.-10G>C) | |
X | g.135985649G= | CA2460185446 | SLC9A6 | c.147G= (p.Glu49=) c.-10G= (n.-10G=) | |
X | g.135985649G>T | CA414606611 | SLC9A6 | c.147G>T (p.Glu49Asp) c.-10G>T (n.-10G>T) | |
X | g.135985650G>A | CA414606613 | SLC9A6 | c.148G>A (p.Ala50Thr) c.-9G>A (n.-9G>A) | |
X | g.135985650G>C | CA414606614 | SLC9A6 | c.148G>C (p.Ala50Pro) c.-9G>C (n.-9G>C) | |
X | g.135985650G= | CA2460185447 | SLC9A6 | c.148G= (p.Ala50=) c.-9G= (n.-9G=) | |
X | g.135985650G>T | CA318535 | SLC9A6 | c.148G>T (p.Ala50Ser) c.-9G>T (n.-9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985651C>A | CA414606615 | SLC9A6 | c.149C>A (p.Ala50Asp) c.-8C>A (n.-8C>A) | |
X | g.135985651C= | CA2460185448 | SLC9A6 | c.149C= (p.Ala50=) c.-8C= (n.-8C=) | |
X | g.135985651C>G | CA414606616 | SLC9A6 | c.149C>G (p.Ala50Gly) c.-8C>G (n.-8C>G) | |
X | g.135985651C>T | CA414606617 | SLC9A6 | c.149C>T (p.Ala50Val) c.-8C>T (n.-8C>T) | dbSNP gnomAD v4 |
X | g.135985652T>A | CA518490534 | SLC9A6 | c.150T>A (p.Ala50=) c.-7T>A (n.-7T>A) | |
X | g.135985652T>C | CA518490532 | SLC9A6 | c.150T>C (p.Ala50=) c.-7T>C (n.-7T>C) | |
X | g.135985652T>G | CA518490530 | SLC9A6 | c.150T>G (p.Ala50=) c.-7T>G (n.-7T>G) | dbSNP |
X | g.135985652T= | CA2460185449 | SLC9A6 | c.150T= (p.Ala50=) c.-7T= (n.-7T=) | |
X | g.135985653A>C | CA518490537 | SLC9A6 | c.151A>C (p.Arg51=) c.-6A>C (n.-6A>C) | |
X | g.135985653A>G | CA414606618 | SLC9A6 | c.151A>G (p.Arg51Gly) c.-6A>G (n.-6A>G) | |
X | g.135985653A>T | CA414606619 | SLC9A6 | c.151A>T (p.Arg51Ter) c.-6A>T (n.-6A>T) | |
X | g.135985654G>A | CA10524600 | SLC9A6 | c.152G>A (p.Arg51Lys) c.-5G>A (n.-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135985654G>C | CA414606620 | SLC9A6 | c.152G>C (p.Arg51Thr) c.-5G>C (n.-5G>C) | ClinVar dbSNP |
X | g.135985654G= | CA2460185450 | SLC9A6 | c.152G= (p.Arg51=) c.-5G= (n.-5G=) | |
X | g.135985654G>T | CA414606621 | SLC9A6 | c.152G>T (p.Arg51Ile) c.-5G>T (n.-5G>T) | |
X | g.135985655A= | CA2460185451 | SLC9A6 | c.153A= (p.Arg51=) c.-4A= (n.-4A=) | |
X | g.135985655A>C | CA414606623 | SLC9A6 | c.153A>C (p.Arg51Ser) c.-4A>C (n.-4A>C) | |
X | g.135985655A>G | CA10524601 | SLC9A6 | c.153A>G (p.Arg51=) c.-4A>G (n.-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985655A>T | CA414606622 | SLC9A6 | c.153A>T (p.Arg51Ser) c.-4A>T (n.-4A>T) | |
X | g.135985656G>A | CA10524602 | SLC9A6 | c.154G>A (p.Ala52Thr) c.-3G>A (n.-3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985656G>C | CA414606624 | SLC9A6 | c.154G>C (p.Ala52Pro) c.-3G>C (n.-3G>C) | |
X | g.135985656G= | CA2460185452 | SLC9A6 | c.154G= (p.Ala52=) c.-3G= (n.-3G=) | |
X | g.135985656G>T | CA414606625 | SLC9A6 | c.154G>T (p.Ala52Ser) c.-3G>T (n.-3G>T) | |
X | g.135985657C>A | CA414606626 | SLC9A6 | c.155C>A (p.Ala52Asp) c.-2C>A (n.-2C>A) | |
X | g.135985657C>G | CA414606627 | SLC9A6 | c.155C>G (p.Ala52Gly) c.-2C>G (n.-2C>G) | |
X | g.135985657C>T | CA414606628 | SLC9A6 | c.155C>T (p.Ala52Val) c.-2C>T (n.-2C>T) | |
X | g.135985658C>A | CA518490547 | SLC9A6 | c.156C>A (p.Ala52=) c.-1C>A (n.-1C>A) | |
X | g.135985658C= | CA2460185453 | SLC9A6 | c.156C= (p.Ala52=) c.-1C= (n.-1C=) | |
X | g.135985658C>G | CA518490549 | SLC9A6 | c.156C>G (p.Ala52=) c.-1C>G (n.-1C>G) | gnomAD v4 |
X | g.135985658C>T | CA336084423 | SLC9A6 | c.156C>T (p.Ala52=) c.-1C>T (n.-1C>T) | ClinVar dbSNP gnomAD v4 |
X | g.135985659A>C | CA414606629 | SLC9A6 | c.157A>C (p.Met53Leu) c.1A>C (p.Met1Leu) | |
X | g.135985659A>G | CA414606630 | SLC9A6 | c.157A>G (p.Met53Val) c.1A>G (p.Met1Val) | |
X | g.135985659A>T | CA414606631 | SLC9A6 | c.157A>T (p.Met53Leu) c.1A>T (p.Met1Leu) | |
X | g.135985660T>A | CA10524603 | SLC9A6 | c.158T>A (p.Met53Lys) c.2T>A (p.Met1Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985660T>C | CA414606632 | SLC9A6 | c.158T>C (p.Met53Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
X | g.135985660T>G | CA414606633 | SLC9A6 | c.158T>G (p.Met53Arg) c.2T>G (p.Met1Arg) | gnomAD v4 |
X | g.135985660T= | CA2460185454 | SLC9A6 | c.158T= (p.Met53=) c.2T= (p.Met1=) | |
X | g.135985661G>A | CA414606636 | SLC9A6 | c.159G>A (p.Met53Ile) c.3G>A (p.Met1Ile) | |
X | g.135985661G>C | CA414606635 | SLC9A6 | c.159G>C (p.Met53Ile) c.3G>C (p.Met1Ile) | |
X | g.135985661G>T | CA414606634 | SLC9A6 | c.159G>T (p.Met53Ile) c.3G>T (p.Met1Ile) | |
X | g.135985662G>A | CA414606637 | SLC9A6 | c.160G>A (p.Asp54Asn) c.4G>A (p.Asp2Asn) | dbSNP COSMIC COSMIC |
X | g.135985662G>C | CA414606639 | SLC9A6 | c.160G>C (p.Asp54His) c.4G>C (p.Asp2His) | |
X | g.135985662G= | CA2460185455 | SLC9A6 | c.160G= (p.Asp54=) c.4G= (p.Asp2=) | |
X | g.135985662G>T | CA414606638 | SLC9A6 | c.160G>T (p.Asp54Tyr) c.4G>T (p.Asp2Tyr) | |
X | g.135985663A>C | CA414606640 | SLC9A6 | c.161A>C (p.Asp54Ala) c.5A>C (p.Asp2Ala) | |
X | g.135985663A>G | CA414606641 | SLC9A6 | c.161A>G (p.Asp54Gly) c.5A>G (p.Asp2Gly) | |
X | g.135985663A>T | CA414606642 | SLC9A6 | c.161A>T (p.Asp54Val) c.5A>T (p.Asp2Val) | COSMIC COSMIC |
X | g.135985664C>A | CA414606643 | SLC9A6 | c.162C>A (p.Asp54Glu) c.6C>A (p.Asp2Glu) | |
X | g.135985664C= | CA2460185456 | SLC9A6 | c.162C= (p.Asp54=) c.6C= (p.Asp2=) | |
X | g.135985664C>G | CA414606644 | SLC9A6 | c.162C>G (p.Asp54Glu) c.6C>G (p.Asp2Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135985664C>T | CA518490560 | SLC9A6 | c.162C>T (p.Asp54=) c.6C>T (p.Asp2=) | |
X | g.135985665G>A | CA414606645 | SLC9A6 | c.163G>A (p.Glu55Lys) c.7G>A (p.Glu3Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135985665G>C | CA414606646 | SLC9A6 | c.163G>C (p.Glu55Gln) c.7G>C (p.Glu3Gln) | gnomAD v4 |
X | g.135985665G= | CA2460185457 | SLC9A6 | c.163G= (p.Glu55=) c.7G= (p.Glu3=) | |
X | g.135985665G>T | CA414606647 | SLC9A6 | c.163G>T (p.Glu55Ter) c.7G>T (p.Glu3Ter) | |
X | g.135985666A>C | CA414606648 | SLC9A6 | c.164A>C (p.Glu55Ala) c.8A>C (p.Glu3Ala) | |
X | g.135985666A>G | CA414606650 | SLC9A6 | c.164A>G (p.Glu55Gly) c.8A>G (p.Glu3Gly) | |
X | g.135985666A>T | CA414606649 | SLC9A6 | c.164A>T (p.Glu55Val) c.8A>T (p.Glu3Val) | |
X | g.135985667G>A | CA518490567 | SLC9A6 | c.165G>A (p.Glu55=) c.9G>A (p.Glu3=) | |
X | g.135985667G>C | CA414606651 | SLC9A6 | c.165G>C (p.Glu55Asp) c.9G>C (p.Glu3Asp) | |
X | g.135985667G>T | CA414606652 | SLC9A6 | c.165G>T (p.Glu55Asp) c.9G>T (p.Glu3Asp) | |
X | g.135985668G>A | CA414606653 | SLC9A6 | c.166G>A (p.Glu56Lys) c.10G>A (p.Glu4Lys) | |
X | g.135985668G>C | CA414606654 | SLC9A6 | c.166G>C (p.Glu56Gln) c.10G>C (p.Glu4Gln) | |
X | g.135985668G>T | CA414606655 | SLC9A6 | c.166G>T (p.Glu56Ter) c.10G>T (p.Glu4Ter) | |
X | g.135985669A= | CA2460185458 | SLC9A6 | c.167A= (p.Glu56=) c.11A= (p.Glu4=) | |
X | g.135985669A>C | CA414606656 | SLC9A6 | c.167A>C (p.Glu56Ala) c.11A>C (p.Glu4Ala) | |
X | g.135985669A>G | CA10524604 | SLC9A6 | c.167A>G (p.Glu56Gly) c.11A>G (p.Glu4Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135985669A>T | CA414606657 | SLC9A6 | c.167A>T (p.Glu56Val) c.11A>T (p.Glu4Val) | |
X | g.135985670G>A | CA518490572 | SLC9A6 | c.168G>A (p.Glu56=) c.12G>A (p.Glu4=) | |
X | g.135985670G>C | CA414606658 | SLC9A6 | c.168G>C (p.Glu56Asp) c.12G>C (p.Glu4Asp) | |
X | g.135985670G>T | CA414606659 | SLC9A6 | c.168G>T (p.Glu56Asp) c.12G>T (p.Glu4Asp) | |
X | g.135985671A= | CA2460185459 | SLC9A6 | c.169A= (p.Ile57=) c.13A= (p.Ile5=) | |
X | g.135985671A>C | CA414606660 | SLC9A6 | c.169A>C (p.Ile57Leu) c.13A>C (p.Ile5Leu) | ClinVar dbSNP gnomAD v2 |
X | g.135985671A>G | CA414606661 | SLC9A6 | c.169A>G (p.Ile57Val) c.13A>G (p.Ile5Val) | |
X | g.135985671A>T | CA414606662 | SLC9A6 | c.169A>T (p.Ile57Phe) c.13A>T (p.Ile5Phe) | |
X | g.135985672T>A | CA414606663 | SLC9A6 | c.170T>A (p.Ile57Asn) c.14T>A (p.Ile5Asn) | |
X | g.135985672T>C | CA414606664 | SLC9A6 | c.170T>C (p.Ile57Thr) c.14T>C (p.Ile5Thr) | |
X | g.135985672T>G | CA414606665 | SLC9A6 | c.170T>G (p.Ile57Ser) c.14T>G (p.Ile5Ser) | |
X | g.135985673C>A | CA518490579 | SLC9A6 | c.171C>A (p.Ile57=) c.15C>A (p.Ile5=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985673C= | CA2460185460 | SLC9A6 | c.171C= (p.Ile57=) c.15C= (p.Ile5=) | |
X | g.135985673C>G | CA10524605 | SLC9A6 | c.171C>G (p.Ile57Met) c.15C>G (p.Ile5Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985673C>T | CA518490580 | SLC9A6 | c.171C>T (p.Ile57=) c.15C>T (p.Ile5=) | |
X | g.135985674G>A | CA414606666 | SLC9A6 | c.172G>A (p.Val58Met) c.16G>A (p.Val6Met) | |
X | g.135985674G>C | CA414606667 | SLC9A6 | c.172G>C (p.Val58Leu) c.16G>C (p.Val6Leu) | |
X | g.135985674G>T | CA414606668 | SLC9A6 | c.172G>T (p.Val58Leu) c.16G>T (p.Val6Leu) | |
X | g.135985675T>A | CA414606669 | SLC9A6 | c.173T>A (p.Val58Glu) c.17T>A (p.Val6Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985675T>C | CA414606671 | SLC9A6 | c.173T>C (p.Val58Ala) c.17T>C (p.Val6Ala) | |
X | g.135985675T>G | CA414606670 | SLC9A6 | c.173T>G (p.Val58Gly) c.17T>G (p.Val6Gly) | |
X | g.135985675T= | CA2460185461 | SLC9A6 | c.173T= (p.Val58=) c.17T= (p.Val6=) | |
X | g.135985676G>A | CA518490590 | SLC9A6 | c.174G>A (p.Val58=) c.18G>A (p.Val6=) | |
X | g.135985676G>C | CA518490591 | SLC9A6 | c.174G>C (p.Val58=) c.18G>C (p.Val6=) | |
X | g.135985676G>T | CA518490593 | SLC9A6 | c.174G>T (p.Val58=) c.18G>T (p.Val6=) | |
X | g.135985677T>A | CA414606672 | SLC9A6 | c.175T>A (p.Ser59Thr) c.19T>A (p.Ser7Thr) | |
X | g.135985677T>C | CA414606673 | SLC9A6 | c.175T>C (p.Ser59Pro) c.19T>C (p.Ser7Pro) | |
X | g.135985677T>G | CA414606674 | SLC9A6 | c.175T>G (p.Ser59Ala) c.19T>G (p.Ser7Ala) | gnomAD v4 |
X | g.135985678C>A | CA414606675 | SLC9A6 | c.176C>A (p.Ser59Tyr) c.20C>A (p.Ser7Tyr) | gnomAD v4 |
X | g.135985678C>G | CA414606676 | SLC9A6 | c.176C>G (p.Ser59Cys) c.20C>G (p.Ser7Cys) | |
X | g.135985678C>T | CA414606677 | SLC9A6 | c.176C>T (p.Ser59Phe) c.20C>T (p.Ser7Phe) | |
X | g.135985679C>A | CA518490597 | SLC9A6 | c.177C>A (p.Ser59=) c.21C>A (p.Ser7=) | |
X | g.135985679C= | CA2460185462 | SLC9A6 | c.177C= (p.Ser59=) c.21C= (p.Ser7=) | |
X | g.135985679C>G | CA10524606 | SLC9A6 | c.177C>G (p.Ser59=) c.21C>G (p.Ser7=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135985679C>T | CA518490598 | SLC9A6 | c.177C>T (p.Ser59=) c.21C>T (p.Ser7=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135985680G>A | CA414606678 | SLC9A6 | c.178G>A (p.Glu60Lys) c.22G>A (p.Glu8Lys) | |
X | g.135985680G>C | CA414606679 | SLC9A6 | c.178G>C (p.Glu60Gln) c.22G>C (p.Glu8Gln) | ClinVar dbSNP |
X | g.135985680G>T | CA414606680 | SLC9A6 | c.178G>T (p.Glu60Ter) c.22G>T (p.Glu8Ter) | |
X | g.135985681A>C | CA414606681 | SLC9A6 | c.179A>C (p.Glu60Ala) c.23A>C (p.Glu8Ala) | |
X | g.135985681A>G | CA414606682 | SLC9A6 | c.179A>G (p.Glu60Gly) c.23A>G (p.Glu8Gly) | |
X | g.135985681A>T | CA414606683 | SLC9A6 | c.179A>T (p.Glu60Val) c.23A>T (p.Glu8Val) | |
X | g.135985682G>A | CA518490603 | SLC9A6 | c.180G>A (p.Glu60=) c.24G>A (p.Glu8=) | |
X | g.135985682G>C | CA414606685 | SLC9A6 | c.180G>C (p.Glu60Asp) c.24G>C (p.Glu8Asp) | COSMIC COSMIC |
X | g.135985682G>T | CA414606684 | SLC9A6 | c.180G>T (p.Glu60Asp) c.24G>T (p.Glu8Asp) | |
X | g.135985683A>C | CA414606686 | SLC9A6 | c.181A>C (p.Lys61Gln) c.25A>C (p.Lys9Gln) | |
X | g.135985683A>G | CA414606687 | SLC9A6 | c.181A>G (p.Lys61Glu) c.25A>G (p.Lys9Glu) | |
X | g.135985683A>T | CA414606688 | SLC9A6 | c.181A>T (p.Lys61Ter) c.25A>T (p.Lys9Ter) | |
X | g.135985684A= | CA2460185464 | SLC9A6 | c.182A= (p.Lys61=) c.26A= (p.Lys9=) | |
X | g.135985684A>C | CA414606689 | SLC9A6 | c.182A>C (p.Lys61Thr) c.26A>C (p.Lys9Thr) | |
X | g.135985684A>G | CA10524607 | SLC9A6 | c.182A>G (p.Lys61Arg) c.26A>G (p.Lys9Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985684A>T | CA414606690 | SLC9A6 | c.182A>T (p.Lys61Met) c.26A>T (p.Lys9Met) | |
X | g.135985684_135985685delinsAG | CA2460185463 | SLC9A6 | c.182_183delinsAG (p.Lys61=) c.26_27delinsAG (p.Lys9=) | |
X | g.135985685_135985687del | CA2546487587 | SLC9A6 | c.183_185del (p.Gln62del) c.27_29del (p.Gln10del) | |
X | g.135985685del | CA173495 | SLC9A6 | c.183del (p.Lys61AsnfsTer?) c.27del (p.Lys9AsnfsTer?) | ClinVar dbSNP |
X | g.135985685G>A | CA518490611 | SLC9A6 | c.183G>A (p.Lys61=) c.27G>A (p.Lys9=) | |
X | g.135985685G>C | CA414606691 | SLC9A6 | c.183G>C (p.Lys61Asn) c.27G>C (p.Lys9Asn) | |
X | g.135985685G>T | CA414606692 | SLC9A6 | c.183G>T (p.Lys61Asn) c.27G>T (p.Lys9Asn) | |
X | g.135985686C>A | CA414606693 | SLC9A6 | c.184C>A (p.Gln62Lys) c.28C>A (p.Gln10Lys) | |
X | g.135985686C>G | CA414606694 | SLC9A6 | c.184C>G (p.Gln62Glu) c.28C>G (p.Gln10Glu) | |
X | g.135985686C>T | CA414606695 | SLC9A6 | c.184C>T (p.Gln62Ter) c.28C>T (p.Gln10Ter) | |
X | g.135985687A>C | CA414606696 | SLC9A6 | c.185A>C (p.Gln62Pro) c.29A>C (p.Gln10Pro) | |
X | g.135985687A>G | CA414606698 | SLC9A6 | c.185A>G (p.Gln62Arg) c.29A>G (p.Gln10Arg) | |
X | g.135985687A>T | CA414606697 | SLC9A6 | c.185A>T (p.Gln62Leu) c.29A>T (p.Gln10Leu) | |
X | g.135985688A>C | CA414606699 | SLC9A6 | c.186A>C (p.Gln62His) c.30A>C (p.Gln10His) | |
X | g.135985688A>G | CA518490617 | SLC9A6 | c.186A>G (p.Gln62=) c.30A>G (p.Gln10=) | |
X | g.135985688A>T | CA414606700 | SLC9A6 | c.186A>T (p.Gln62His) c.30A>T (p.Gln10His) | |
X | g.135985689G>A | CA414606701 | SLC9A6 | c.187G>A (p.Ala63Thr) c.31G>A (p.Ala11Thr) | |
X | g.135985689G>C | CA414606702 | SLC9A6 | c.187G>C (p.Ala63Pro) c.31G>C (p.Ala11Pro) | |
X | g.135985689G>T | CA414606703 | SLC9A6 | c.187G>T (p.Ala63Ser) c.31G>T (p.Ala11Ser) | |
X | g.135985690C>A | CA414606704 | SLC9A6 | c.188C>A (p.Ala63Asp) c.32C>A (p.Ala11Asp) | |
X | g.135985690C>G | CA414606705 | SLC9A6 | c.188C>G (p.Ala63Gly) c.32C>G (p.Ala11Gly) | |
X | g.135985690C>T | CA414606706 | SLC9A6 | c.188C>T (p.Ala63Val) c.32C>T (p.Ala11Val) | |
X | g.135985690_135985691insGG | CA2568827979 | SLC9A6 | c.188_189insGG (p.Glu64AlafsTer?) c.32_33insGG (p.Glu12AlafsTer?) | |
X | g.135985691C>A | CA518490621 | SLC9A6 | c.189C>A (p.Ala63=) c.33C>A (p.Ala11=) | |
X | g.135985691C= | CA2460185465 | SLC9A6 | c.189C= (p.Ala63=) c.33C= (p.Ala11=) | |
X | g.135985691C>G | CA10524608 | SLC9A6 | c.189C>G (p.Ala63=) c.33C>G (p.Ala11=) | dbSNP ExAC |
X | g.135985691C>T | CA518490625 | SLC9A6 | c.189C>T (p.Ala63=) c.33C>T (p.Ala11=) | COSMIC COSMIC |
X | g.135985692G>A | CA414606707 | SLC9A6 | c.190G>A (p.Glu64Lys) c.34G>A (p.Glu12Lys) | |
X | g.135985692G>C | CA414606708 | SLC9A6 | c.190G>C (p.Glu64Gln) c.34G>C (p.Glu12Gln) | |
X | g.135985692G>T | CA414606709 | SLC9A6 | c.190G>T (p.Glu64Ter) c.34G>T (p.Glu12Ter) | |
X | g.135985692dup | CA2560147454 | SLC9A6 | c.190dup (p.Glu64GlyfsTer?) c.34dup (p.Glu12GlyfsTer?) | |
X | g.135985693A>C | CA414606710 | SLC9A6 | c.191A>C (p.Glu64Ala) c.35A>C (p.Glu12Ala) | |
X | g.135985693A>G | CA414606711 | SLC9A6 | c.191A>G (p.Glu64Gly) c.35A>G (p.Glu12Gly) | |
X | g.135985693A>T | CA414606712 | SLC9A6 | c.191A>T (p.Glu64Val) c.35A>T (p.Glu12Val) | |
X | g.135985694G>A | CA518490632 | SLC9A6 | c.192G>A (p.Glu64=) c.36G>A (p.Glu12=) | |
X | g.135985694G>C | CA414606713 | SLC9A6 | c.192G>C (p.Glu64Asp) c.36G>C (p.Glu12Asp) | gnomAD v4 |
X | g.135985694G>T | CA414606714 | SLC9A6 | c.192G>T (p.Glu64Asp) c.36G>T (p.Glu12Asp) | |
X | g.135985695G>A | CA414606715 | SLC9A6 | c.193G>A (p.Glu65Lys) c.37G>A (p.Glu13Lys) | |
X | g.135985695G>C | CA414606716 | SLC9A6 | c.193G>C (p.Glu65Gln) c.37G>C (p.Glu13Gln) | |
X | g.135985695G= | CA2460185466 | SLC9A6 | c.193G= (p.Glu65=) c.37G= (p.Glu13=) | |
X | g.135985695G>T | CA10524609 | SLC9A6 | c.193G>T (p.Glu65Ter) c.37G>T (p.Glu13Ter) | dbSNP ExAC |
X | g.135985696A>C | CA414606717 | SLC9A6 | c.194A>C (p.Glu65Ala) c.38A>C (p.Glu13Ala) | |
X | g.135985696A>G | CA414606718 | SLC9A6 | c.194A>G (p.Glu65Gly) c.38A>G (p.Glu13Gly) | |
X | g.135985696A>T | CA414606719 | SLC9A6 | c.194A>T (p.Glu65Val) c.38A>T (p.Glu13Val) | |
X | g.135985697G>A | CA518490635 | SLC9A6 | c.195G>A (p.Glu65=) c.39G>A (p.Glu13=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.135985697G>C | CA414606720 | SLC9A6 | c.195G>C (p.Glu65Asp) c.39G>C (p.Glu13Asp) | |
X | g.135985697G= | CA2460185467 | SLC9A6 | c.195G= (p.Glu65=) c.39G= (p.Glu13=) | |
X | g.135985697G>T | CA414606721 | SLC9A6 | c.195G>T (p.Glu65Asp) c.39G>T (p.Glu13Asp) | |
X | g.135985698A>C | CA414606722 | SLC9A6 | c.196A>C (p.Ser66Arg) c.40A>C (p.Ser14Arg) | |
X | g.135985698A>G | CA414606723 | SLC9A6 | c.196A>G (p.Ser66Gly) c.40A>G (p.Ser14Gly) | |
X | g.135985698A>T | CA414606724 | SLC9A6 | c.196A>T (p.Ser66Cys) c.40A>T (p.Ser14Cys) | |
X | g.135985699G>A | CA414606727 | SLC9A6 | c.197G>A (p.Ser66Asn) c.41G>A (p.Ser14Asn) | |
X | g.135985699G>C | CA414606726 | SLC9A6 | c.197G>C (p.Ser66Thr) c.41G>C (p.Ser14Thr) | |
X | g.135985699G>T | CA414606725 | SLC9A6 | c.197G>T (p.Ser66Ile) c.41G>T (p.Ser14Ile) | |
X | g.135985700C>A | CA414606728 | SLC9A6 | c.198C>A (p.Ser66Arg) c.42C>A (p.Ser14Arg) | |
X | g.135985700C= | CA2460185468 | SLC9A6 | c.198C= (p.Ser66=) c.42C= (p.Ser14=) | |
X | g.135985700C>G | CA414606729 | SLC9A6 | c.198C>G (p.Ser66Arg) c.42C>G (p.Ser14Arg) | |
X | g.135985700C>T | CA16608698 | SLC9A6 | c.198C>T (p.Ser66=) c.42C>T (p.Ser14=) | ClinVar dbSNP gnomAD v4 |
X | g.135985701C>A | CA414606730 | SLC9A6 | c.199C>A (p.His67Asn) c.43C>A (p.His15Asn) | |
X | g.135985701C>G | CA414606731 | SLC9A6 | c.199C>G (p.His67Asp) c.43C>G (p.His15Asp) | |
X | g.135985701C>T | CA414606732 | SLC9A6 | c.199C>T (p.His67Tyr) c.43C>T (p.His15Tyr) | |
X | g.135985702A>C | CA414606733 | SLC9A6 | c.200A>C (p.His67Pro) c.44A>C (p.His15Pro) | |
X | g.135985702A>G | CA414606734 | SLC9A6 | c.200A>G (p.His67Arg) c.44A>G (p.His15Arg) | |
X | g.135985702A>T | CA414606735 | SLC9A6 | c.200A>T (p.His67Leu) c.44A>T (p.His15Leu) | |
X | g.135985703C>A | CA414606736 | SLC9A6 | c.201C>A (p.His67Gln) c.45C>A (p.His15Gln) | |
X | g.135985703C>G | CA414606737 | SLC9A6 | c.201C>G (p.His67Gln) c.45C>G (p.His15Gln) | |
X | g.135985703C>T | CA518490643 | SLC9A6 | c.201C>T (p.His67=) c.45C>T (p.His15=) | gnomAD v4 |
X | g.135985704C>A | CA518490644 | SLC9A6 | c.202C>A (p.Arg68=) c.46C>A (p.Arg16=) | |
X | g.135985704C>G | CA414606738 | SLC9A6 | c.202C>G (p.Arg68Gly) c.46C>G (p.Arg16Gly) | |
X | g.135985704C>T | CA414606739 | SLC9A6 | c.202C>T (p.Arg68Trp) c.46C>T (p.Arg16Trp) | COSMIC |
X | g.135985705G>A | CA414606742 | SLC9A6 | c.203G>A (p.Arg68Gln) c.47G>A (p.Arg16Gln) | |
X | g.135985705G>C | CA414606740 | SLC9A6 | c.203G>C (p.Arg68Pro) c.47G>C (p.Arg16Pro) | |
X | g.135985705G>T | CA414606741 | SLC9A6 | c.203G>T (p.Arg68Leu) c.47G>T (p.Arg16Leu) | |
X | g.135985706G>A | CA518490648 | SLC9A6 | c.204G>A (p.Arg68=) c.48G>A (p.Arg16=) | |
X | g.135985706G>C | CA518490649 | SLC9A6 | c.204G>C (p.Arg68=) c.48G>C (p.Arg16=) | dbSNP |
X | g.135985706G= | CA2460185469 | SLC9A6 | c.204G= (p.Arg68=) c.48G= (p.Arg16=) | |
X | g.135985706G>T | CA518490650 | SLC9A6 | c.204G>T (p.Arg68=) c.48G>T (p.Arg16=) | |
X | g.135985707C>A | CA414606743 | SLC9A6 | c.205C>A (p.Gln69Lys) c.49C>A (p.Gln17Lys) | |
X | g.135985707C>G | CA414606744 | SLC9A6 | c.205C>G (p.Gln69Glu) c.49C>G (p.Gln17Glu) | |
X | g.135985707C>T | CA414606745 | SLC9A6 | c.205C>T (p.Gln69Ter) c.49C>T (p.Gln17Ter) | |
X | g.135985708A>C | CA414606746 | SLC9A6 | c.206A>C (p.Gln69Pro) c.50A>C (p.Gln17Pro) | |
X | g.135985708A>G | CA414606747 | SLC9A6 | c.206A>G (p.Gln69Arg) c.50A>G (p.Gln17Arg) | gnomAD v4 |
X | g.135985708A>T | CA414606748 | SLC9A6 | c.206A>T (p.Gln69Leu) c.50A>T (p.Gln17Leu) | |
X | g.135985709G>A | CA518490653 | SLC9A6 | c.207G>A (p.Gln69=) c.51G>A (p.Gln17=) | |
X | g.135985709G>C | CA414606749 | SLC9A6 | c.207G>C (p.Gln69His) c.51G>C (p.Gln17His) | |
X | g.135985709G>T | CA414606750 | SLC9A6 | c.207G>T (p.Gln69His) c.51G>T (p.Gln17His) | |
X | g.135985710G>A | CA414606751 | SLC9A6 | c.208G>A (p.Asp70Asn) c.52G>A (p.Asp18Asn) | |
X | g.135985710G>C | CA414606752 | SLC9A6 | c.208G>C (p.Asp70His) c.52G>C (p.Asp18His) | |
X | g.135985710G>T | CA414606753 | SLC9A6 | c.208G>T (p.Asp70Tyr) c.52G>T (p.Asp18Tyr) | |
X | g.135985711A= | CA2460185470 | SLC9A6 | c.209A= (p.Asp70=) c.53A= (p.Asp18=) | |
X | g.135985711A>C | CA414606756 | SLC9A6 | c.209A>C (p.Asp70Ala) c.53A>C (p.Asp18Ala) | |
X | g.135985711A>G | CA414606755 | SLC9A6 | c.209A>G (p.Asp70Gly) c.53A>G (p.Asp18Gly) | dbSNP gnomAD v2 |
X | g.135985711A>T | CA414606754 | SLC9A6 | c.209A>T (p.Asp70Val) c.53A>T (p.Asp18Val) | |
X | g.135985712C>A | CA414606757 | SLC9A6 | c.210C>A (p.Asp70Glu) c.54C>A (p.Asp18Glu) | |
X | g.135985712C= | CA2460185471 | SLC9A6 | c.210C= (p.Asp70=) c.54C= (p.Asp18=) | |
X | g.135985712C>G | CA414606758 | SLC9A6 | c.210C>G (p.Asp70Glu) c.54C>G (p.Asp18Glu) | gnomAD v4 |
X | g.135985712C>T | CA518490660 | SLC9A6 | c.210C>T (p.Asp70=) c.54C>T (p.Asp18=) | ClinVar dbSNP |
X | g.135985713A= | CA2460185472 | SLC9A6 | c.211A= (p.Ser71=) c.55A= (p.Ser19=) | |
X | g.135985713A>C | CA414606759 | SLC9A6 | c.211A>C (p.Ser71Arg) c.55A>C (p.Ser19Arg) | dbSNP |
X | g.135985713A>G | CA414606761 | SLC9A6 | c.211A>G (p.Ser71Gly) c.55A>G (p.Ser19Gly) | ClinVar |
X | g.135985713A>T | CA414606760 | SLC9A6 | c.211A>T (p.Ser71Cys) c.55A>T (p.Ser19Cys) | |
X | g.135985714G>A | CA414606762 | SLC9A6 | c.212G>A (p.Ser71Asn) c.56G>A (p.Ser19Asn) | |
X | g.135985714G>C | CA414606763 | SLC9A6 | c.212G>C (p.Ser71Thr) c.56G>C (p.Ser19Thr) | |
X | g.135985714G>T | CA414606764 | SLC9A6 | c.212G>T (p.Ser71Ile) c.56G>T (p.Ser19Ile) | |
X | g.135985715C>A | CA414606765 | SLC9A6 | c.213C>A (p.Ser71Arg) c.57C>A (p.Ser19Arg) | |
X | g.135985715C= | CA2460185473 | SLC9A6 | c.213C= (p.Ser71=) c.57C= (p.Ser19=) | |
X | g.135985715C>G | CA414606766 | SLC9A6 | c.213C>G (p.Ser71Arg) c.57C>G (p.Ser19Arg) | |
X | g.135985715C>T | CA10524610 | SLC9A6 | c.213C>T (p.Ser71=) c.57C>T (p.Ser19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985716G>A | CA414606767 | SLC9A6 | c.214G>A (p.Ala72Thr) c.58G>A (p.Ala20Thr) n.1G>A c.1G>A (p.Ala1Thr) | |
X | g.135985716G>C | CA414606768 | SLC9A6 | c.214G>C (p.Ala72Pro) c.58G>C (p.Ala20Pro) n.1G>C c.1G>C (p.Ala1Pro) | |
X | g.135985716G>T | CA414606769 | SLC9A6 | c.214G>T (p.Ala72Ser) c.58G>T (p.Ala20Ser) n.1G>T c.1G>T (p.Ala1Ser) | COSMIC COSMIC |
X | g.135985717C>A | CA414606770 | SLC9A6 | c.215C>A (p.Ala72Asp) c.59C>A (p.Ala20Asp) n.2C>A c.2C>A (p.Ala1Asp) | |
X | g.135985717C>G | CA414606771 | SLC9A6 | c.215C>G (p.Ala72Gly) c.59C>G (p.Ala20Gly) n.2C>G c.2C>G (p.Ala1Gly) | |
X | g.135985717C>T | CA414606772 | SLC9A6 | c.215C>T (p.Ala72Val) c.59C>T (p.Ala20Val) n.2C>T c.2C>T (p.Ala1Val) | |
X | g.135985718C>A | CA518490661 | SLC9A6 | c.216C>A (p.Ala72=) c.60C>A (p.Ala20=) n.3C>A c.3C>A (p.Ala1=) n.1C>A | |
X | g.135985718C>G | CA518490662 | SLC9A6 | c.216C>G (p.Ala72=) c.60C>G (p.Ala20=) n.3C>G c.3C>G (p.Ala1=) n.1C>G | |
X | g.135985718C>T | CA518490663 | SLC9A6 | c.216C>T (p.Ala72=) c.60C>T (p.Ala20=) n.3C>T c.3C>T (p.Ala1=) n.1C>T | gnomAD v4 |
X | g.135985719A>C | CA414606775 | SLC9A6 | c.217A>C (p.Asn73His) c.61A>C (p.Asn21His) n.4A>C c.4A>C (p.Asn2His) n.2A>C | |
X | g.135985719A>G | CA414606773 | SLC9A6 | c.217A>G (p.Asn73Asp) c.61A>G (p.Asn21Asp) n.4A>G c.4A>G (p.Asn2Asp) n.2A>G | |
X | g.135985719A>T | CA414606774 | SLC9A6 | c.217A>T (p.Asn73Tyr) c.61A>T (p.Asn21Tyr) n.4A>T c.4A>T (p.Asn2Tyr) n.2A>T | |
X | g.135985720A>C | CA414606776 | SLC9A6 | c.218A>C (p.Asn73Thr) c.62A>C (p.Asn21Thr) n.5A>C c.5A>C (p.Asn2Thr) n.3A>C | COSMIC COSMIC |
X | g.135985720A>G | CA414606777 | SLC9A6 | c.218A>G (p.Asn73Ser) c.62A>G (p.Asn21Ser) n.5A>G c.5A>G (p.Asn2Ser) n.3A>G | |
X | g.135985720A>T | CA414606778 | SLC9A6 | c.218A>T (p.Asn73Ile) c.62A>T (p.Asn21Ile) n.5A>T c.5A>T (p.Asn2Ile) n.3A>T | |
X | g.135985721C>A | CA414606779 | SLC9A6 | c.219C>A (p.Asn73Lys) c.63C>A (p.Asn21Lys) n.6C>A c.6C>A (p.Asn2Lys) n.4C>A | |
X | g.135985721C>G | CA414606780 | SLC9A6 | c.219C>G (p.Asn73Lys) c.63C>G (p.Asn21Lys) n.6C>G c.6C>G (p.Asn2Lys) n.4C>G | |
X | g.135985721C>T | CA518490664 | SLC9A6 | c.219C>T (p.Asn73=) c.63C>T (p.Asn21=) n.6C>T c.6C>T (p.Asn2=) n.4C>T | |
X | g.135985721_135985739delinsCCTGCTCATCTTCATCCTG | CA2460185474 | SLC9A6 | c.219_237delinsCCTGCTCATCTTCATCCTG (p.Asn73=) c.63_81delinsCCTGCTCATCTTCATCCTG (p.Asn21=) n.6_24delinsCCTGCTCATCTTCATCCTG c.6_24delinsCCTGCTCATCTTCATCCTG (p.Asn2=) n.4_22delinsCCTGCTCATCTTCATCCTG | |
X | g.135985722C>A | CA414606781 | SLC9A6 | c.220C>A (p.Leu74Met) c.64C>A (p.Leu22Met) n.7C>A c.7C>A (p.Leu3Met) n.5C>A | |
X | g.135985722C= | CA2460185475 | SLC9A6 | c.220C= (p.Leu74=) c.64C= (p.Leu22=) n.7C= c.7C= (p.Leu3=) n.5C= | |
X | g.135985722C>G | CA318550 | SLC9A6 | c.220C>G (p.Leu74Val) c.64C>G (p.Leu22Val) n.7C>G c.7C>G (p.Leu3Val) n.5C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985722C>T | CA518490665 | SLC9A6 | c.220C>T (p.Leu74=) c.64C>T (p.Leu22=) n.7C>T c.7C>T (p.Leu3=) n.5C>T | |
X | g.135985729_135985746del | CA915952375 | SLC9A6 | c.227_244del (p.Ile76_Leu81del) c.71_88del (p.Ile24_Leu29del) n.14_31del c.14_31del (p.Ile5_Leu10del) n.12_29del | ClinVar dbSNP |
X | g.135985723T>A | CA414606782 | SLC9A6 | c.221T>A (p.Leu74Gln) c.65T>A (p.Leu22Gln) n.8T>A c.8T>A (p.Leu3Gln) n.6T>A | |
X | g.135985723T>C | CA414606783 | SLC9A6 | c.221T>C (p.Leu74Pro) c.65T>C (p.Leu22Pro) n.8T>C c.8T>C (p.Leu3Pro) n.6T>C | |
X | g.135985723T>G | CA414606784 | SLC9A6 | c.221T>G (p.Leu74Arg) c.65T>G (p.Leu22Arg) n.8T>G c.8T>G (p.Leu3Arg) n.6T>G | |
X | g.135985724G>A | CA518490666 | SLC9A6 | c.222G>A (p.Leu74=) c.66G>A (p.Leu22=) n.9G>A c.9G>A (p.Leu3=) n.7G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135985724G>C | CA518490667 | SLC9A6 | c.222G>C (p.Leu74=) c.66G>C (p.Leu22=) n.9G>C c.9G>C (p.Leu3=) n.7G>C | gnomAD v4 |
X | g.135985724G= | CA2460185476 | SLC9A6 | c.222G= (p.Leu74=) c.66G= (p.Leu22=) n.9G= c.9G= (p.Leu3=) n.7G= | |
X | g.135985724G>T | CA518490668 | SLC9A6 | c.222G>T (p.Leu74=) c.66G>T (p.Leu22=) n.9G>T c.9G>T (p.Leu3=) n.7G>T | |
X | g.135985725C>A | CA414606786 | SLC9A6 | c.223C>A (p.Leu75Ile) c.67C>A (p.Leu23Ile) n.10C>A c.10C>A (p.Leu4Ile) n.8C>A | |
X | g.135985725C= | CA2460185477 | SLC9A6 | c.223C= (p.Leu75=) c.67C= (p.Leu23=) n.10C= c.10C= (p.Leu4=) n.8C= | |
X | g.135985725C>G | CA336084467 | SLC9A6 | c.223C>G (p.Leu75Val) c.67C>G (p.Leu23Val) n.10C>G c.10C>G (p.Leu4Val) n.8C>G | ClinVar dbSNP gnomAD v4 |
X | g.135985725C>T | CA414606785 | SLC9A6 | c.223C>T (p.Leu75Phe) c.67C>T (p.Leu23Phe) n.10C>T c.10C>T (p.Leu4Phe) n.8C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.135985726T>A | CA414606787 | SLC9A6 | c.224T>A (p.Leu75His) c.68T>A (p.Leu23His) n.11T>A c.11T>A (p.Leu4His) n.9T>A | |
X | g.135985726T>C | CA414606788 | SLC9A6 | c.224T>C (p.Leu75Pro) c.68T>C (p.Leu23Pro) n.11T>C c.11T>C (p.Leu4Pro) n.9T>C | |
X | g.135985726T>G | CA414606789 | SLC9A6 | c.224T>G (p.Leu75Arg) c.68T>G (p.Leu23Arg) n.11T>G c.11T>G (p.Leu4Arg) n.9T>G | |
X | g.135985727C>A | CA518490669 | SLC9A6 | c.225C>A (p.Leu75=) c.69C>A (p.Leu23=) n.12C>A c.12C>A (p.Leu4=) n.10C>A | |
X | g.135985727C= | CA2460185478 | SLC9A6 | c.225C= (p.Leu75=) c.69C= (p.Leu23=) n.12C= c.12C= (p.Leu4=) n.10C= | |
X | g.135985727C>G | CA518490670 | SLC9A6 | c.225C>G (p.Leu75=) c.69C>G (p.Leu23=) n.12C>G c.12C>G (p.Leu4=) n.10C>G | |
X | g.135985727C>T | CA518490671 | SLC9A6 | c.225C>T (p.Leu75=) c.69C>T (p.Leu23=) n.12C>T c.12C>T (p.Leu4=) n.10C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.135985728A>C | CA414606790 | SLC9A6 | c.226A>C (p.Ile76Leu) c.70A>C (p.Ile24Leu) n.13A>C c.13A>C (p.Ile5Leu) n.11A>C | |
X | g.135985728A>G | CA414606791 | SLC9A6 | c.226A>G (p.Ile76Val) c.70A>G (p.Ile24Val) n.13A>G c.13A>G (p.Ile5Val) n.11A>G | gnomAD v4 |
X | g.135985728A>T | CA414606792 | SLC9A6 | c.226A>T (p.Ile76Phe) c.70A>T (p.Ile24Phe) n.13A>T c.13A>T (p.Ile5Phe) n.11A>T | |
X | g.135985729T>A | CA414606793 | SLC9A6 | c.227T>A (p.Ile76Asn) c.71T>A (p.Ile24Asn) n.14T>A c.14T>A (p.Ile5Asn) n.12T>A | |
X | g.135985729T>C | CA414606794 | SLC9A6 | c.227T>C (p.Ile76Thr) c.71T>C (p.Ile24Thr) n.14T>C c.14T>C (p.Ile5Thr) n.12T>C | |
X | g.135985729T>G | CA414606795 | SLC9A6 | c.227T>G (p.Ile76Ser) c.71T>G (p.Ile24Ser) n.14T>G c.14T>G (p.Ile5Ser) n.12T>G | |
X | g.135985730C>A | CA518490673 | SLC9A6 | c.228C>A (p.Ile76=) c.72C>A (p.Ile24=) n.15C>A c.15C>A (p.Ile5=) n.13C>A | |
X | g.135985730C>G | CA414606796 | SLC9A6 | c.228C>G (p.Ile76Met) c.72C>G (p.Ile24Met) n.15C>G c.15C>G (p.Ile5Met) n.13C>G | |
X | g.135985730C>T | CA518490672 | SLC9A6 | c.228C>T (p.Ile76=) c.72C>T (p.Ile24=) n.15C>T c.15C>T (p.Ile5=) n.13C>T | gnomAD v4 |
X | g.135985731T>A | CA414606797 | SLC9A6 | c.229T>A (p.Phe77Ile) c.73T>A (p.Phe25Ile) n.16T>A c.16T>A (p.Phe6Ile) n.14T>A | COSMIC COSMIC |
X | g.135985731T>C | CA414606798 | SLC9A6 | c.229T>C (p.Phe77Leu) c.73T>C (p.Phe25Leu) n.16T>C c.16T>C (p.Phe6Leu) n.14T>C | |
X | g.135985731T>G | CA414606799 | SLC9A6 | c.229T>G (p.Phe77Val) c.73T>G (p.Phe25Val) n.16T>G c.16T>G (p.Phe6Val) n.14T>G |