| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34236014del | CA2627630844 | SLC12A6 | c.3227+1del (n.3227+1del) c.3074+1del (n.3074+1del) c.3050+1del (n.3050+1del) c.3182+1del (n.3182+1del) c.3200+1del (n.3200+1del) c.*250+1del (n.*250+1del) c.*436+1del (n.*436+1del) c.2663+1del (n.2663+1del) c.*465+1del (n.*465+1del) c.3080+1del (n.3080+1del) n.3233+1del n.4506+1del | gnomAD v4 |
| 15 | g.34236014C>A | CA391617425 | SLC12A6 | c.3227+1G>T (n.3227+1G>T) c.3074+1G>T (n.3074+1G>T) c.3050+1G>T (n.3050+1G>T) c.3182+1G>T (n.3182+1G>T) c.3200+1G>T (n.3200+1G>T) c.*250+1G>T (n.*250+1G>T) c.*436+1G>T (n.*436+1G>T) c.2663+1G>T (n.2663+1G>T) c.*465+1G>T (n.*465+1G>T) c.3080+1G>T (n.3080+1G>T) n.3233+1G>T n.4506+1G>T | |
| 15 | g.34236014C>G | CA391617426 | SLC12A6 | c.3227+1G>C (n.3227+1G>C) c.3074+1G>C (n.3074+1G>C) c.3050+1G>C (n.3050+1G>C) c.3182+1G>C (n.3182+1G>C) c.3200+1G>C (n.3200+1G>C) c.*250+1G>C (n.*250+1G>C) c.*436+1G>C (n.*436+1G>C) c.2663+1G>C (n.2663+1G>C) c.*465+1G>C (n.*465+1G>C) c.3080+1G>C (n.3080+1G>C) n.3233+1G>C n.4506+1G>C | |
| 15 | g.34236014C>T | CA16041713 | SLC12A6 | c.3227+1G>A (n.3227+1G>A) c.3074+1G>A (n.3074+1G>A) c.3050+1G>A (n.3050+1G>A) c.3182+1G>A (n.3182+1G>A) c.3200+1G>A (n.3200+1G>A) c.*250+1G>A (n.*250+1G>A) c.*436+1G>A (n.*436+1G>A) c.2663+1G>A (n.2663+1G>A) c.*465+1G>A (n.*465+1G>A) c.3080+1G>A (n.3080+1G>A) n.3233+1G>A n.4506+1G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.34236015G>A | CA391617427 | SLC12A6 | c.3227C>T (p.Pro1076Leu) c.3074C>T (p.Pro1025Leu) c.3050C>T (p.Pro1017Leu) c.3182C>T (p.Pro1061Leu) c.3200C>T (p.Pro1067Leu) c.*250C>T (n.*250C>T) c.*436C>T (n.*436C>T) c.2663C>T (p.Pro888Leu) c.*465C>T (n.*465C>T) c.3080C>T (p.Pro1027Leu) n.3233C>T n.4506C>T | ClinVar gnomAD v4 |
| 15 | g.34236015G>C | CA391617428 | SLC12A6 | c.3227C>G (p.Pro1076Arg) c.3074C>G (p.Pro1025Arg) c.3050C>G (p.Pro1017Arg) c.3182C>G (p.Pro1061Arg) c.3200C>G (p.Pro1067Arg) c.*250C>G (n.*250C>G) c.*436C>G (n.*436C>G) c.2663C>G (p.Pro888Arg) c.*465C>G (n.*465C>G) c.3080C>G (p.Pro1027Arg) n.3233C>G n.4506C>G | COSMIC COSMIC COSMIC |
| 15 | g.34236015G>T | CA391617429 | SLC12A6 | c.3227C>A (p.Pro1076Gln) c.3074C>A (p.Pro1025Gln) c.3050C>A (p.Pro1017Gln) c.3182C>A (p.Pro1061Gln) c.3200C>A (p.Pro1067Gln) c.*250C>A (n.*250C>A) c.*436C>A (n.*436C>A) c.2663C>A (p.Pro888Gln) c.*465C>A (n.*465C>A) c.3080C>A (p.Pro1027Gln) n.3233C>A n.4506C>A | |
| 15 | g.34236016G>A | CA391617430 | SLC12A6 | c.3226C>T (p.Pro1076Ser) c.3073C>T (p.Pro1025Ser) c.3049C>T (p.Pro1017Ser) c.3181C>T (p.Pro1061Ser) c.3199C>T (p.Pro1067Ser) c.*249C>T (n.*249C>T) c.*435C>T (n.*435C>T) c.2662C>T (p.Pro888Ser) c.*464C>T (n.*464C>T) c.3079C>T (p.Pro1027Ser) n.3232C>T n.4505C>T | COSMIC COSMIC |
| 15 | g.34236016G>C | CA391617431 | SLC12A6 | c.3226C>G (p.Pro1076Ala) c.3073C>G (p.Pro1025Ala) c.3049C>G (p.Pro1017Ala) c.3181C>G (p.Pro1061Ala) c.3199C>G (p.Pro1067Ala) c.*249C>G (n.*249C>G) c.*435C>G (n.*435C>G) c.2662C>G (p.Pro888Ala) c.*464C>G (n.*464C>G) c.3079C>G (p.Pro1027Ala) n.3232C>G n.4505C>G | |
| 15 | g.34236016G>T | CA391617432 | SLC12A6 | c.3226C>A (p.Pro1076Thr) c.3073C>A (p.Pro1025Thr) c.3049C>A (p.Pro1017Thr) c.3181C>A (p.Pro1061Thr) c.3199C>A (p.Pro1067Thr) c.*249C>A (n.*249C>A) c.*435C>A (n.*435C>A) c.2662C>A (p.Pro888Thr) c.*464C>A (n.*464C>A) c.3079C>A (p.Pro1027Thr) n.3232C>A n.4505C>A | |
| 15 | g.34236017A>C | CA489410648 | SLC12A6 | c.3225T>G (p.Arg1075=) c.3072T>G (p.Arg1024=) c.3048T>G (p.Arg1016=) c.3180T>G (p.Arg1060=) c.3198T>G (p.Arg1066=) c.*248T>G (n.*248T>G) c.*434T>G (n.*434T>G) c.2661T>G (p.Arg887=) c.*463T>G (n.*463T>G) c.3078T>G (p.Arg1026=) n.3231T>G n.4504T>G | |
| 15 | g.34236017A>G | CA489410649 | SLC12A6 | c.3225T>C (p.Arg1075=) c.3072T>C (p.Arg1024=) c.3048T>C (p.Arg1016=) c.3180T>C (p.Arg1060=) c.3198T>C (p.Arg1066=) c.*248T>C (n.*248T>C) c.*434T>C (n.*434T>C) c.2661T>C (p.Arg887=) c.*463T>C (n.*463T>C) c.3078T>C (p.Arg1026=) n.3231T>C n.4504T>C | |
| 15 | g.34236017A>T | CA489410646 | SLC12A6 | c.3225T>A (p.Arg1075=) c.3072T>A (p.Arg1024=) c.3048T>A (p.Arg1016=) c.3180T>A (p.Arg1060=) c.3198T>A (p.Arg1066=) c.*248T>A (n.*248T>A) c.*434T>A (n.*434T>A) c.2661T>A (p.Arg887=) c.*463T>A (n.*463T>A) c.3078T>A (p.Arg1026=) n.3231T>A n.4504T>A | |
| 15 | g.34236018C>A | CA7463902 | SLC12A6 | c.3224G>T (p.Arg1075Leu) c.3071G>T (p.Arg1024Leu) c.3047G>T (p.Arg1016Leu) c.3179G>T (p.Arg1060Leu) c.3197G>T (p.Arg1066Leu) c.*247G>T (n.*247G>T) c.*433G>T (n.*433G>T) c.2660G>T (p.Arg887Leu) c.*462G>T (n.*462G>T) c.3077G>T (p.Arg1026Leu) n.3230G>T n.4503G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34236018C>G | CA391617434 | SLC12A6 | c.3224G>C (p.Arg1075Pro) c.3071G>C (p.Arg1024Pro) c.3047G>C (p.Arg1016Pro) c.3179G>C (p.Arg1060Pro) c.3197G>C (p.Arg1066Pro) c.*247G>C (n.*247G>C) c.*433G>C (n.*433G>C) c.2660G>C (p.Arg887Pro) c.*462G>C (n.*462G>C) c.3077G>C (p.Arg1026Pro) n.3230G>C n.4503G>C | |
| 15 | g.34236018C>T | CA391617433 | SLC12A6 | c.3224G>A (p.Arg1075His) c.3071G>A (p.Arg1024His) c.3047G>A (p.Arg1016His) c.3179G>A (p.Arg1060His) c.3197G>A (p.Arg1066His) c.*247G>A (n.*247G>A) c.*433G>A (n.*433G>A) c.2660G>A (p.Arg887His) c.*462G>A (n.*462G>A) c.3077G>A (p.Arg1026His) n.3230G>A n.4503G>A | dbSNP gnomAD v4 |
| 15 | g.34236019G>A | CA391617435 | SLC12A6 | c.3223C>T (p.Arg1075Cys) c.3070C>T (p.Arg1024Cys) c.3046C>T (p.Arg1016Cys) c.3178C>T (p.Arg1060Cys) c.3196C>T (p.Arg1066Cys) c.*246C>T (n.*246C>T) c.*432C>T (n.*432C>T) c.2659C>T (p.Arg887Cys) c.*461C>T (n.*461C>T) c.3076C>T (p.Arg1026Cys) n.3229C>T n.4502C>T | gnomAD v4 |
| 15 | g.34236019G>C | CA7463903 | SLC12A6 | c.3223C>G (p.Arg1075Gly) c.3070C>G (p.Arg1024Gly) c.3046C>G (p.Arg1016Gly) c.3178C>G (p.Arg1060Gly) c.3196C>G (p.Arg1066Gly) c.*246C>G (n.*246C>G) c.*432C>G (n.*432C>G) c.2659C>G (p.Arg887Gly) c.*461C>G (n.*461C>G) c.3076C>G (p.Arg1026Gly) n.3229C>G n.4502C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34236019G>T | CA391617436 | SLC12A6 | c.3223C>A (p.Arg1075Ser) c.3070C>A (p.Arg1024Ser) c.3046C>A (p.Arg1016Ser) c.3178C>A (p.Arg1060Ser) c.3196C>A (p.Arg1066Ser) c.*246C>A (n.*246C>A) c.*432C>A (n.*432C>A) c.2659C>A (p.Arg887Ser) c.*461C>A (n.*461C>A) c.3076C>A (p.Arg1026Ser) n.3229C>A n.4502C>A | |
| 15 | g.34236020C>A | CA391617437 | SLC12A6 | c.3222G>T (p.Met1074Ile) c.3069G>T (p.Met1023Ile) c.3045G>T (p.Met1015Ile) c.3177G>T (p.Met1059Ile) c.3195G>T (p.Met1065Ile) c.*245G>T (n.*245G>T) c.*431G>T (n.*431G>T) c.2658G>T (p.Met886Ile) c.*460G>T (n.*460G>T) c.3075G>T (p.Met1025Ile) n.3228G>T n.4501G>T | |
| 15 | g.34236020C>G | CA391617438 | SLC12A6 | c.3222G>C (p.Met1074Ile) c.3069G>C (p.Met1023Ile) c.3045G>C (p.Met1015Ile) c.3177G>C (p.Met1059Ile) c.3195G>C (p.Met1065Ile) c.*245G>C (n.*245G>C) c.*431G>C (n.*431G>C) c.2658G>C (p.Met886Ile) c.*460G>C (n.*460G>C) c.3075G>C (p.Met1025Ile) n.3228G>C n.4501G>C | |
| 15 | g.34236020C>T | CA391617439 | SLC12A6 | c.3222G>A (p.Met1074Ile) c.3069G>A (p.Met1023Ile) c.3045G>A (p.Met1015Ile) c.3177G>A (p.Met1059Ile) c.3195G>A (p.Met1065Ile) c.*245G>A (n.*245G>A) c.*431G>A (n.*431G>A) c.2658G>A (p.Met886Ile) c.*460G>A (n.*460G>A) c.3075G>A (p.Met1025Ile) n.3228G>A n.4501G>A | |
| 15 | g.34236021A>C | CA391617440 | SLC12A6 | c.3221T>G (p.Met1074Arg) c.3068T>G (p.Met1023Arg) c.3044T>G (p.Met1015Arg) c.3176T>G (p.Met1059Arg) c.3194T>G (p.Met1065Arg) c.*244T>G (n.*244T>G) c.*430T>G (n.*430T>G) c.2657T>G (p.Met886Arg) c.*459T>G (n.*459T>G) c.3074T>G (p.Met1025Arg) n.3227T>G n.4500T>G | dbSNP |
| 15 | g.34236021A>G | CA391617441 | SLC12A6 | c.3221T>C (p.Met1074Thr) c.3068T>C (p.Met1023Thr) c.3044T>C (p.Met1015Thr) c.3176T>C (p.Met1059Thr) c.3194T>C (p.Met1065Thr) c.*244T>C (n.*244T>C) c.*430T>C (n.*430T>C) c.2657T>C (p.Met886Thr) c.*459T>C (n.*459T>C) c.3074T>C (p.Met1025Thr) n.3227T>C n.4500T>C | |
| 15 | g.34236021A>T | CA391617442 | SLC12A6 | c.3221T>A (p.Met1074Lys) c.3068T>A (p.Met1023Lys) c.3044T>A (p.Met1015Lys) c.3176T>A (p.Met1059Lys) c.3194T>A (p.Met1065Lys) c.*244T>A (n.*244T>A) c.*430T>A (n.*430T>A) c.2657T>A (p.Met886Lys) c.*459T>A (n.*459T>A) c.3074T>A (p.Met1025Lys) n.3227T>A n.4500T>A | dbSNP |
| 15 | g.34236022T>A | CA268658767 | SLC12A6 | c.3220A>T (p.Met1074Leu) c.3067A>T (p.Met1023Leu) c.3043A>T (p.Met1015Leu) c.3175A>T (p.Met1059Leu) c.3193A>T (p.Met1065Leu) c.*243A>T (n.*243A>T) c.*429A>T (n.*429A>T) c.2656A>T (p.Met886Leu) c.*458A>T (n.*458A>T) c.3073A>T (p.Met1025Leu) n.3226A>T n.4499A>T | dbSNP gnomAD v4 |
| 15 | g.34236022T>C | CA7463904 | SLC12A6 | c.3220A>G (p.Met1074Val) c.3067A>G (p.Met1023Val) c.3043A>G (p.Met1015Val) c.3175A>G (p.Met1059Val) c.3193A>G (p.Met1065Val) c.*243A>G (n.*243A>G) c.*429A>G (n.*429A>G) c.2656A>G (p.Met886Val) c.*458A>G (n.*458A>G) c.3073A>G (p.Met1025Val) n.3226A>G n.4499A>G | dbSNP ExAC |
| 15 | g.34236022T>G | CA391617443 | SLC12A6 | c.3220A>C (p.Met1074Leu) c.3067A>C (p.Met1023Leu) c.3043A>C (p.Met1015Leu) c.3175A>C (p.Met1059Leu) c.3193A>C (p.Met1065Leu) c.*243A>C (n.*243A>C) c.*429A>C (n.*429A>C) c.2656A>C (p.Met886Leu) c.*458A>C (n.*458A>C) c.3073A>C (p.Met1025Leu) n.3226A>C n.4499A>C | |
| 15 | g.34236022dup | CA16041714 | SLC12A6 | c.3220dup (p.Met1074AsnfsTer23) c.3067dup (p.Met1023AsnfsTer23) c.3043dup (p.Met1015AsnfsTer23) c.3175dup (p.Met1059AsnfsTer23) c.3193dup (p.Met1065AsnfsTer23) c.*243dup (n.*243dup) c.*429dup (n.*429dup) c.2656dup (p.Met886AsnfsTer23) c.*458dup (n.*458dup) c.3073dup (p.Met1025AsnfsTer23) n.3226dup n.4499dup | ClinVar dbSNP gnomAD v4 |
| 15 | g.34236023G>A | CA489410662 | SLC12A6 | c.3219C>T (p.Asn1073=) c.3066C>T (p.Asn1022=) c.3042C>T (p.Asn1014=) c.3174C>T (p.Asn1058=) c.3192C>T (p.Asn1064=) c.*242C>T (n.*242C>T) c.*428C>T (n.*428C>T) c.2655C>T (p.Asn885=) c.*457C>T (n.*457C>T) c.3072C>T (p.Asn1024=) n.3225C>T n.4498C>T | |
| 15 | g.34236023G>C | CA391617445 | SLC12A6 | c.3219C>G (p.Asn1073Lys) c.3066C>G (p.Asn1022Lys) c.3042C>G (p.Asn1014Lys) c.3174C>G (p.Asn1058Lys) c.3192C>G (p.Asn1064Lys) c.*242C>G (n.*242C>G) c.*428C>G (n.*428C>G) c.2655C>G (p.Asn885Lys) c.*457C>G (n.*457C>G) c.3072C>G (p.Asn1024Lys) n.3225C>G n.4498C>G | |
| 15 | g.34236023G>T | CA391617444 | SLC12A6 | c.3219C>A (p.Asn1073Lys) c.3066C>A (p.Asn1022Lys) c.3042C>A (p.Asn1014Lys) c.3174C>A (p.Asn1058Lys) c.3192C>A (p.Asn1064Lys) c.*242C>A (n.*242C>A) c.*428C>A (n.*428C>A) c.2655C>A (p.Asn885Lys) c.*457C>A (n.*457C>A) c.3072C>A (p.Asn1024Lys) n.3225C>A n.4498C>A | |
| 15 | g.34236024T>A | CA391617446 | SLC12A6 | c.3218A>T (p.Asn1073Ile) c.3065A>T (p.Asn1022Ile) c.3041A>T (p.Asn1014Ile) c.3173A>T (p.Asn1058Ile) c.3191A>T (p.Asn1064Ile) c.*241A>T (n.*241A>T) c.*427A>T (n.*427A>T) c.2654A>T (p.Asn885Ile) c.*456A>T (n.*456A>T) c.3071A>T (p.Asn1024Ile) n.3224A>T n.4497A>T | |
| 15 | g.34236024T>C | CA391617447 | SLC12A6 | c.3218A>G (p.Asn1073Ser) c.3065A>G (p.Asn1022Ser) c.3041A>G (p.Asn1014Ser) c.3173A>G (p.Asn1058Ser) c.3191A>G (p.Asn1064Ser) c.*241A>G (n.*241A>G) c.*427A>G (n.*427A>G) c.2654A>G (p.Asn885Ser) c.*456A>G (n.*456A>G) c.3071A>G (p.Asn1024Ser) n.3224A>G n.4497A>G | |
| 15 | g.34236024T>G | CA391617448 | SLC12A6 | c.3218A>C (p.Asn1073Thr) c.3065A>C (p.Asn1022Thr) c.3041A>C (p.Asn1014Thr) c.3173A>C (p.Asn1058Thr) c.3191A>C (p.Asn1064Thr) c.*241A>C (n.*241A>C) c.*427A>C (n.*427A>C) c.2654A>C (p.Asn885Thr) c.*456A>C (n.*456A>C) c.3071A>C (p.Asn1024Thr) n.3224A>C n.4497A>C | |
| 15 | g.34236025dup | CA912980384 | SLC12A6 | c.3218dup (p.Asn1073LysfsTer24) c.3065dup (p.Asn1022LysfsTer24) c.3041dup (p.Asn1014LysfsTer24) c.3173dup (p.Asn1058LysfsTer24) c.3191dup (p.Asn1064LysfsTer24) c.*241dup (n.*241dup) c.*427dup (n.*427dup) c.2654dup (p.Asn885LysfsTer24) c.*456dup (n.*456dup) c.3071dup (p.Asn1024LysfsTer24) n.3224dup n.4497dup | |
| 15 | g.34236025T>A | CA391617449 | SLC12A6 | c.3217A>T (p.Asn1073Tyr) c.3064A>T (p.Asn1022Tyr) c.3040A>T (p.Asn1014Tyr) c.3172A>T (p.Asn1058Tyr) c.3190A>T (p.Asn1064Tyr) c.*240A>T (n.*240A>T) c.*426A>T (n.*426A>T) c.2653A>T (p.Asn885Tyr) c.*455A>T (n.*455A>T) c.3070A>T (p.Asn1024Tyr) n.3223A>T n.4496A>T | |
| 15 | g.34236025T>C | CA391617450 | SLC12A6 | c.3217A>G (p.Asn1073Asp) c.3064A>G (p.Asn1022Asp) c.3040A>G (p.Asn1014Asp) c.3172A>G (p.Asn1058Asp) c.3190A>G (p.Asn1064Asp) c.*240A>G (n.*240A>G) c.*426A>G (n.*426A>G) c.2653A>G (p.Asn885Asp) c.*455A>G (n.*455A>G) c.3070A>G (p.Asn1024Asp) n.3223A>G n.4496A>G | |
| 15 | g.34236025T>G | CA391617451 | SLC12A6 | c.3217A>C (p.Asn1073His) c.3064A>C (p.Asn1022His) c.3040A>C (p.Asn1014His) c.3172A>C (p.Asn1058His) c.3190A>C (p.Asn1064His) c.*240A>C (n.*240A>C) c.*426A>C (n.*426A>C) c.2653A>C (p.Asn885His) c.*455A>C (n.*455A>C) c.3070A>C (p.Asn1024His) n.3223A>C n.4496A>C | |
| 15 | g.34236026A>C | CA489410669 | SLC12A6 | c.3216T>G (p.Leu1072=) c.3063T>G (p.Leu1021=) c.3039T>G (p.Leu1013=) c.3171T>G (p.Leu1057=) c.3189T>G (p.Leu1063=) c.*239T>G (n.*239T>G) c.*425T>G (n.*425T>G) c.2652T>G (p.Leu884=) c.*454T>G (n.*454T>G) c.3069T>G (p.Leu1023=) n.3222T>G n.4495T>G | |
| 15 | g.34236026A>G | CA489410670 | SLC12A6 | c.3216T>C (p.Leu1072=) c.3063T>C (p.Leu1021=) c.3039T>C (p.Leu1013=) c.3171T>C (p.Leu1057=) c.3189T>C (p.Leu1063=) c.*239T>C (n.*239T>C) c.*425T>C (n.*425T>C) c.2652T>C (p.Leu884=) c.*454T>C (n.*454T>C) c.3069T>C (p.Leu1023=) n.3222T>C n.4495T>C | |
| 15 | g.34236026A>T | CA489410672 | SLC12A6 | c.3216T>A (p.Leu1072=) c.3063T>A (p.Leu1021=) c.3039T>A (p.Leu1013=) c.3171T>A (p.Leu1057=) c.3189T>A (p.Leu1063=) c.*239T>A (n.*239T>A) c.*425T>A (n.*425T>A) c.2652T>A (p.Leu884=) c.*454T>A (n.*454T>A) c.3069T>A (p.Leu1023=) n.3222T>A n.4495T>A | |
| 15 | g.34236027dup | CA658824088 | SLC12A6 | c.3216dup (p.Asn1073Ter) c.3063dup (p.Asn1022Ter) c.3039dup (p.Asn1014Ter) c.3171dup (p.Asn1058Ter) c.3189dup (p.Asn1064Ter) c.*239dup (n.*239dup) c.*425dup (n.*425dup) c.2652dup (p.Asn885Ter) c.*454dup (n.*454dup) c.3069dup (p.Asn1024Ter) n.3222dup n.4495dup | ClinVar dbSNP |
| 15 | g.34236027A>C | CA391617452 | SLC12A6 | c.3215T>G (p.Leu1072Arg) c.3062T>G (p.Leu1021Arg) c.3038T>G (p.Leu1013Arg) c.3170T>G (p.Leu1057Arg) c.3188T>G (p.Leu1063Arg) c.*238T>G (n.*238T>G) c.*424T>G (n.*424T>G) c.2651T>G (p.Leu884Arg) c.*453T>G (n.*453T>G) c.3068T>G (p.Leu1023Arg) n.3221T>G n.4494T>G | |
| 15 | g.34236027A>G | CA391617453 | SLC12A6 | c.3215T>C (p.Leu1072Pro) c.3062T>C (p.Leu1021Pro) c.3038T>C (p.Leu1013Pro) c.3170T>C (p.Leu1057Pro) c.3188T>C (p.Leu1063Pro) c.*238T>C (n.*238T>C) c.*424T>C (n.*424T>C) c.2651T>C (p.Leu884Pro) c.*453T>C (n.*453T>C) c.3068T>C (p.Leu1023Pro) n.3221T>C n.4494T>C | |
| 15 | g.34236027A>T | CA391617454 | SLC12A6 | c.3215T>A (p.Leu1072His) c.3062T>A (p.Leu1021His) c.3038T>A (p.Leu1013His) c.3170T>A (p.Leu1057His) c.3188T>A (p.Leu1063His) c.*238T>A (n.*238T>A) c.*424T>A (n.*424T>A) c.2651T>A (p.Leu884His) c.*453T>A (n.*453T>A) c.3068T>A (p.Leu1023His) n.3221T>A n.4494T>A | |
| 15 | g.34236028G>A | CA391617455 | SLC12A6 | c.3214C>T (p.Leu1072Phe) c.3061C>T (p.Leu1021Phe) c.3037C>T (p.Leu1013Phe) c.3169C>T (p.Leu1057Phe) c.3187C>T (p.Leu1063Phe) c.*237C>T (n.*237C>T) c.*423C>T (n.*423C>T) c.2650C>T (p.Leu884Phe) c.*452C>T (n.*452C>T) c.3067C>T (p.Leu1023Phe) n.3220C>T n.4493C>T | |
| 15 | g.34236028G>C | CA391617456 | SLC12A6 | c.3214C>G (p.Leu1072Val) c.3061C>G (p.Leu1021Val) c.3037C>G (p.Leu1013Val) c.3169C>G (p.Leu1057Val) c.3187C>G (p.Leu1063Val) c.*237C>G (n.*237C>G) c.*423C>G (n.*423C>G) c.2650C>G (p.Leu884Val) c.*452C>G (n.*452C>G) c.3067C>G (p.Leu1023Val) n.3220C>G n.4493C>G | |
| 15 | g.34236028G>T | CA391617457 | SLC12A6 | c.3214C>A (p.Leu1072Ile) c.3061C>A (p.Leu1021Ile) c.3037C>A (p.Leu1013Ile) c.3169C>A (p.Leu1057Ile) c.3187C>A (p.Leu1063Ile) c.*237C>A (n.*237C>A) c.*423C>A (n.*423C>A) c.2650C>A (p.Leu884Ile) c.*452C>A (n.*452C>A) c.3067C>A (p.Leu1023Ile) n.3220C>A n.4493C>A | |
| 15 | g.34236029C>A | CA489410677 | SLC12A6 | c.3213G>T (p.Leu1071=) c.3060G>T (p.Leu1020=) c.3036G>T (p.Leu1012=) c.3168G>T (p.Leu1056=) c.3186G>T (p.Leu1062=) c.*236G>T (n.*236G>T) c.*422G>T (n.*422G>T) c.2649G>T (p.Leu883=) c.*451G>T (n.*451G>T) c.3066G>T (p.Leu1022=) n.3219G>T n.4492G>T |