Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56894598_56894599dup | CA2807154324 | SLC12A3 | c.2589_2590dup (p.Phe864CysfsTer3) c.2586_2587dup (p.Phe863CysfsTer3) c.2616_2617dup (p.Phe873CysfsTer3) c.2613_2614dup (p.Phe872CysfsTer3) | |
16 | g.56894598G>A | CA495612768 | SLC12A3 | c.2589G>A (p.Val863=) c.2586G>A (p.Val862=) c.2616G>A (p.Val872=) c.2613G>A (p.Val871=) | gnomAD v4 |
16 | g.56894598G>C | CA495612769 | SLC12A3 | c.2589G>C (p.Val863=) c.2586G>C (p.Val862=) c.2616G>C (p.Val872=) c.2613G>C (p.Val871=) | |
16 | g.56894598G>T | CA495612770 | SLC12A3 | c.2589G>T (p.Val863=) c.2586G>T (p.Val862=) c.2616G>T (p.Val872=) c.2613G>T (p.Val871=) | |
16 | g.56894599T>A | CA395997549 | SLC12A3 | c.2590T>A (p.Phe864Ile) c.2587T>A (p.Phe863Ile) c.2617T>A (p.Phe873Ile) c.2614T>A (p.Phe872Ile) | |
16 | g.56894599T>C | CA395997550 | SLC12A3 | c.2590T>C (p.Phe864Leu) c.2587T>C (p.Phe863Leu) c.2617T>C (p.Phe873Leu) c.2614T>C (p.Phe872Leu) | |
16 | g.56894599T>G | CA395997551 | SLC12A3 | c.2590T>G (p.Phe864Val) c.2587T>G (p.Phe863Val) c.2617T>G (p.Phe873Val) c.2614T>G (p.Phe872Val) | |
16 | g.56894600T>A | CA395997558 | SLC12A3 | c.2591T>A (p.Phe864Tyr) c.2588T>A (p.Phe863Tyr) c.2618T>A (p.Phe873Tyr) c.2615T>A (p.Phe872Tyr) | |
16 | g.56894600T>C | CA395997556 | SLC12A3 | c.2591T>C (p.Phe864Ser) c.2588T>C (p.Phe863Ser) c.2618T>C (p.Phe873Ser) c.2615T>C (p.Phe872Ser) | |
16 | g.56894600T>G | CA395997553 | SLC12A3 | c.2591T>G (p.Phe864Cys) c.2588T>G (p.Phe863Cys) c.2618T>G (p.Phe873Cys) c.2615T>G (p.Phe872Cys) | |
16 | g.56894601C>A | CA395997560 | SLC12A3 | c.2592C>A (p.Phe864Leu) c.2589C>A (p.Phe863Leu) c.2619C>A (p.Phe873Leu) c.2616C>A (p.Phe872Leu) | |
16 | g.56894601C= | CA2224361243 | SLC12A3 | c.2592C= (p.Phe864=) c.2589C= (p.Phe863=) c.2619C= (p.Phe873=) c.2616C= (p.Phe872=) | |
16 | g.56894601C>G | CA395997561 | SLC12A3 | c.2592C>G (p.Phe864Leu) c.2589C>G (p.Phe863Leu) c.2619C>G (p.Phe873Leu) c.2616C>G (p.Phe872Leu) | |
16 | g.56894601C>T | CA8069973 | SLC12A3 | c.2592C>T (p.Phe864=) c.2589C>T (p.Phe863=) c.2619C>T (p.Phe873=) c.2616C>T (p.Phe872=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56894601_56894602delinsCG | CA2224361244 | SLC12A3 | c.2592_2593delinsCG (p.Phe864=) c.2589_2590delinsCG (p.Phe863=) c.2619_2620delinsCG (p.Phe873=) c.2616_2617delinsCG (p.Phe872=) | |
16 | g.56894603_56894608dup | CA2633374480 | SLC12A3 | c.2594_2599dup (p.Gly866_Gly867insValGly) c.2591_2596dup (p.Gly865_Gly866insValGly) c.2621_2626dup (p.Gly875_Gly876insValGly) c.2618_2623dup (p.Gly874_Gly875insValGly) | gnomAD v4 |
16 | g.56894602del | CA2224361245 | SLC12A3 | c.2593del (p.Val865Ter) c.2590del (p.Val864Ter) c.2620del (p.Val874Ter) c.2617del (p.Val873Ter) | dbSNP |
16 | g.56894602G>A | CA8069974 | SLC12A3 | c.2593G>A (p.Val865Ile) c.2590G>A (p.Val864Ile) c.2620G>A (p.Val874Ile) c.2617G>A (p.Val873Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894602G>C | CA281514374 | SLC12A3 | c.2593G>C (p.Val865Leu) c.2590G>C (p.Val864Leu) c.2620G>C (p.Val874Leu) c.2617G>C (p.Val873Leu) | dbSNP |
16 | g.56894602G= | CA2224361246 | SLC12A3 | c.2593G= (p.Val865=) c.2590G= (p.Val864=) c.2620G= (p.Val874=) c.2617G= (p.Val873=) | |
16 | g.56894602G>T | CA395997569 | SLC12A3 | c.2593G>T (p.Val865Leu) c.2590G>T (p.Val864Leu) c.2620G>T (p.Val874Leu) c.2617G>T (p.Val873Leu) | |
16 | g.56894603T>A | CA395997572 | SLC12A3 | c.2594T>A (p.Val865Glu) c.2591T>A (p.Val864Glu) c.2621T>A (p.Val874Glu) c.2618T>A (p.Val873Glu) | |
16 | g.56894603T>C | CA8069975 | SLC12A3 | c.2594T>C (p.Val865Ala) c.2591T>C (p.Val864Ala) c.2621T>C (p.Val874Ala) c.2618T>C (p.Val873Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894603T>G | CA281514375 | SLC12A3 | c.2594T>G (p.Val865Gly) c.2591T>G (p.Val864Gly) c.2621T>G (p.Val874Gly) c.2618T>G (p.Val873Gly) | dbSNP gnomAD v4 |
16 | g.56894603T= | CA2224361247 | SLC12A3 | c.2594T= (p.Val865=) c.2591T= (p.Val864=) c.2621T= (p.Val874=) c.2618T= (p.Val873=) | |
16 | g.56894604del | CA2739266781 | SLC12A3 | c.2595del (p.Gly866AlafsTer18) c.2592del (p.Gly865AlafsTer18) c.2622del (p.Gly875AlafsTer18) c.2619del (p.Gly874AlafsTer18) | ClinVar |
16 | g.56894604A= | CA2224361248 | SLC12A3 | c.2595A= (p.Val865=) c.2592A= (p.Val864=) c.2622A= (p.Val874=) c.2619A= (p.Val873=) | |
16 | g.56894604A>C | CA8069976 | SLC12A3 | c.2595A>C (p.Val865=) c.2592A>C (p.Val864=) c.2622A>C (p.Val874=) c.2619A>C (p.Val873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894604A>G | CA495612771 | SLC12A3 | c.2595A>G (p.Val865=) c.2592A>G (p.Val864=) c.2622A>G (p.Val874=) c.2619A>G (p.Val873=) | ClinVar |
16 | g.56894604A>T | CA495612772 | SLC12A3 | c.2595A>T (p.Val865=) c.2592A>T (p.Val864=) c.2622A>T (p.Val874=) c.2619A>T (p.Val873=) | |
16 | g.56894605G>A | CA395997582 | SLC12A3 | c.2596G>A (p.Gly866Ser) c.2593G>A (p.Gly865Ser) c.2623G>A (p.Gly875Ser) c.2620G>A (p.Gly874Ser) | COSMIC |
16 | g.56894605G>C | CA395997584 | SLC12A3 | c.2596G>C (p.Gly866Arg) c.2593G>C (p.Gly865Arg) c.2623G>C (p.Gly875Arg) c.2620G>C (p.Gly874Arg) | |
16 | g.56894605G>T | CA395997587 | SLC12A3 | c.2596G>T (p.Gly866Cys) c.2593G>T (p.Gly865Cys) c.2623G>T (p.Gly875Cys) c.2620G>T (p.Gly874Cys) | |
16 | g.56894606G>A | CA395997589 | SLC12A3 | c.2597G>A (p.Gly866Asp) c.2594G>A (p.Gly865Asp) c.2624G>A (p.Gly875Asp) c.2621G>A (p.Gly874Asp) | |
16 | g.56894606G>C | CA395997591 | SLC12A3 | c.2597G>C (p.Gly866Ala) c.2594G>C (p.Gly865Ala) c.2624G>C (p.Gly875Ala) c.2621G>C (p.Gly874Ala) | |
16 | g.56894606G>T | CA395997592 | SLC12A3 | c.2597G>T (p.Gly866Val) c.2594G>T (p.Gly865Val) c.2624G>T (p.Gly875Val) c.2621G>T (p.Gly874Val) | |
16 | g.56894607C>A | CA495612774 | SLC12A3 | c.2598C>A (p.Gly866=) c.2595C>A (p.Gly865=) c.2625C>A (p.Gly875=) c.2622C>A (p.Gly874=) | |
16 | g.56894607C= | CA2224361249 | SLC12A3 | c.2598C= (p.Gly866=) c.2595C= (p.Gly865=) c.2625C= (p.Gly875=) c.2622C= (p.Gly874=) | |
16 | g.56894607C>G | CA495612773 | SLC12A3 | c.2598C>G (p.Gly866=) c.2595C>G (p.Gly865=) c.2625C>G (p.Gly875=) c.2622C>G (p.Gly874=) | |
16 | g.56894607C>T | CA8069977 | SLC12A3 | c.2598C>T (p.Gly866=) c.2595C>T (p.Gly865=) c.2625C>T (p.Gly875=) c.2622C>T (p.Gly874=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894607_56894608delinsTA | CA2740093387 | SLC12A3 | c.2598_2599delinsTA (p.Gly867Ser) c.2595_2596delinsTA (p.Gly866Ser) c.2625_2626delinsTA (p.Gly876Ser) c.2622_2623delinsTA (p.Gly875Ser) | ClinVar |
16 | g.56894608G>A | CA8069978 | SLC12A3 | c.2599G>A (p.Gly867Ser) c.2596G>A (p.Gly866Ser) c.2626G>A (p.Gly876Ser) c.2623G>A (p.Gly875Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56894608G>C | CA395997596 | SLC12A3 | c.2599G>C (p.Gly867Arg) c.2596G>C (p.Gly866Arg) c.2626G>C (p.Gly876Arg) c.2623G>C (p.Gly875Arg) | |
16 | g.56894608G= | CA2224361250 | SLC12A3 | c.2599G= (p.Gly867=) c.2596G= (p.Gly866=) c.2626G= (p.Gly876=) c.2623G= (p.Gly875=) | |
16 | g.56894608G>T | CA395997598 | SLC12A3 | c.2599G>T (p.Gly867Cys) c.2596G>T (p.Gly866Cys) c.2626G>T (p.Gly876Cys) c.2623G>T (p.Gly875Cys) | gnomAD v4 |
16 | g.56894609G>A | CA395997600 | SLC12A3 | c.2600G>A (p.Gly867Asp) c.2597G>A (p.Gly866Asp) c.2627G>A (p.Gly876Asp) c.2624G>A (p.Gly875Asp) | |
16 | g.56894609G>C | CA395997605 | SLC12A3 | c.2600G>C (p.Gly867Ala) c.2597G>C (p.Gly866Ala) c.2627G>C (p.Gly876Ala) c.2624G>C (p.Gly875Ala) | |
16 | g.56894609G>T | CA395997602 | SLC12A3 | c.2600G>T (p.Gly867Val) c.2597G>T (p.Gly866Val) c.2627G>T (p.Gly876Val) c.2624G>T (p.Gly875Val) | |
16 | g.56894610C>A | CA495612777 | SLC12A3 | c.2601C>A (p.Gly867=) c.2598C>A (p.Gly866=) c.2628C>A (p.Gly876=) c.2625C>A (p.Gly875=) | |
16 | g.56894610C>G | CA495612776 | SLC12A3 | c.2601C>G (p.Gly867=) c.2598C>G (p.Gly866=) c.2628C>G (p.Gly876=) c.2625C>G (p.Gly875=) | |
16 | g.56894610C>T | CA495612775 | SLC12A3 | c.2601C>T (p.Gly867=) c.2598C>T (p.Gly866=) c.2628C>T (p.Gly876=) c.2625C>T (p.Gly875=) | gnomAD v4 |
16 | g.56894611C>A | CA395997607 | SLC12A3 | c.2602C>A (p.Gln868Lys) c.2599C>A (p.Gln867Lys) c.2629C>A (p.Gln877Lys) c.2626C>A (p.Gln876Lys) | |
16 | g.56894611C>G | CA395997609 | SLC12A3 | c.2602C>G (p.Gln868Glu) c.2599C>G (p.Gln867Glu) c.2629C>G (p.Gln877Glu) c.2626C>G (p.Gln876Glu) | |
16 | g.56894611C>T | CA395997611 | SLC12A3 | c.2602C>T (p.Gln868Ter) c.2599C>T (p.Gln867Ter) c.2629C>T (p.Gln877Ter) c.2626C>T (p.Gln876Ter) | COSMIC |
16 | g.56894612A= | CA2224361251 | SLC12A3 | c.2603A= (p.Gln868=) c.2600A= (p.Gln867=) c.2630A= (p.Gln877=) c.2627A= (p.Gln876=) | |
16 | g.56894612A>C | CA395997614 | SLC12A3 | c.2603A>C (p.Gln868Pro) c.2600A>C (p.Gln867Pro) c.2630A>C (p.Gln877Pro) c.2627A>C (p.Gln876Pro) | |
16 | g.56894612A>G | CA395997616 | SLC12A3 | c.2603A>G (p.Gln868Arg) c.2600A>G (p.Gln867Arg) c.2630A>G (p.Gln877Arg) c.2627A>G (p.Gln876Arg) | ClinVar dbSNP |
16 | g.56894612A>T | CA395997618 | SLC12A3 | c.2603A>T (p.Gln868Leu) c.2600A>T (p.Gln867Leu) c.2630A>T (p.Gln877Leu) c.2627A>T (p.Gln876Leu) | |
16 | g.56894613G>A | CA495612778 | SLC12A3 | c.2604G>A (p.Gln868=) c.2601G>A (p.Gln867=) c.2631G>A (p.Gln877=) c.2628G>A (p.Gln876=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894613G>C | CA395997621 | SLC12A3 | c.2604G>C (p.Gln868His) c.2601G>C (p.Gln867His) c.2631G>C (p.Gln877His) c.2628G>C (p.Gln876His) | |
16 | g.56894613G= | CA2224361252 | SLC12A3 | c.2604G= (p.Gln868=) c.2601G= (p.Gln867=) c.2631G= (p.Gln877=) c.2628G= (p.Gln876=) | |
16 | g.56894613G>T | CA8069979 | SLC12A3 | c.2604G>T (p.Gln868His) c.2601G>T (p.Gln867His) c.2631G>T (p.Gln877His) c.2628G>T (p.Gln876His) | dbSNP ExAC |
16 | g.56894614A>C | CA395997625 | SLC12A3 | c.2605A>C (p.Ile869Leu) c.2602A>C (p.Ile868Leu) c.2632A>C (p.Ile878Leu) c.2629A>C (p.Ile877Leu) | |
16 | g.56894614A>G | CA395997628 | SLC12A3 | c.2605A>G (p.Ile869Val) c.2602A>G (p.Ile868Val) c.2632A>G (p.Ile878Val) c.2629A>G (p.Ile877Val) | |
16 | g.56894614A>T | CA395997630 | SLC12A3 | c.2605A>T (p.Ile869Phe) c.2602A>T (p.Ile868Phe) c.2632A>T (p.Ile878Phe) c.2629A>T (p.Ile877Phe) | |
16 | g.56894615T>A | CA395997637 | SLC12A3 | c.2606T>A (p.Ile869Asn) c.2603T>A (p.Ile868Asn) c.2633T>A (p.Ile878Asn) c.2630T>A (p.Ile877Asn) | |
16 | g.56894615T>C | CA395997635 | SLC12A3 | c.2606T>C (p.Ile869Thr) c.2603T>C (p.Ile868Thr) c.2633T>C (p.Ile878Thr) c.2630T>C (p.Ile877Thr) | |
16 | g.56894615T>G | CA395997634 | SLC12A3 | c.2606T>G (p.Ile869Ser) c.2603T>G (p.Ile868Ser) c.2633T>G (p.Ile878Ser) c.2630T>G (p.Ile877Ser) | |
16 | g.56894616T>A | CA495612779 | SLC12A3 | c.2607T>A (p.Ile869=) c.2604T>A (p.Ile868=) c.2634T>A (p.Ile878=) c.2631T>A (p.Ile877=) | |
16 | g.56894616T>C | CA495612780 | SLC12A3 | c.2607T>C (p.Ile869=) c.2604T>C (p.Ile868=) c.2634T>C (p.Ile878=) c.2631T>C (p.Ile877=) | ClinVar dbSNP |
16 | g.56894616T>G | CA395997639 | SLC12A3 | c.2607T>G (p.Ile869Met) c.2604T>G (p.Ile868Met) c.2634T>G (p.Ile878Met) c.2631T>G (p.Ile877Met) | |
16 | g.56894617A>C | CA395997647 | SLC12A3 | c.2608A>C (p.Asn870His) c.2605A>C (p.Asn869His) c.2635A>C (p.Asn879His) c.2632A>C (p.Asn878His) | |
16 | g.56894617A>G | CA395997649 | SLC12A3 | c.2608A>G (p.Asn870Asp) c.2605A>G (p.Asn869Asp) c.2635A>G (p.Asn879Asp) c.2632A>G (p.Asn878Asp) | gnomAD v4 |
16 | g.56894617A>T | CA395997650 | SLC12A3 | c.2608A>T (p.Asn870Tyr) c.2605A>T (p.Asn869Tyr) c.2635A>T (p.Asn879Tyr) c.2632A>T (p.Asn878Tyr) | |
16 | g.56894618A= | CA2224361253 | SLC12A3 | c.2609A= (p.Asn870=) c.2606A= (p.Asn869=) c.2636A= (p.Asn879=) c.2633A= (p.Asn878=) | |
16 | g.56894618A>C | CA395997651 | SLC12A3 | c.2609A>C (p.Asn870Thr) c.2606A>C (p.Asn869Thr) c.2636A>C (p.Asn879Thr) c.2633A>C (p.Asn878Thr) | |
16 | g.56894618A>G | CA8069980 | SLC12A3 | c.2609A>G (p.Asn870Ser) c.2606A>G (p.Asn869Ser) c.2636A>G (p.Asn879Ser) c.2633A>G (p.Asn878Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894618A>T | CA395997652 | SLC12A3 | c.2609A>T (p.Asn870Ile) c.2606A>T (p.Asn869Ile) c.2636A>T (p.Asn879Ile) c.2633A>T (p.Asn878Ile) | |
16 | g.56894619C>A | CA395997655 | SLC12A3 | c.2610C>A (p.Asn870Lys) c.2607C>A (p.Asn869Lys) c.2637C>A (p.Asn879Lys) c.2634C>A (p.Asn878Lys) | |
16 | g.56894619C= | CA2224361254 | SLC12A3 | c.2610C= (p.Asn870=) c.2607C= (p.Asn869=) c.2637C= (p.Asn879=) c.2634C= (p.Asn878=) | |
16 | g.56894619C>G | CA395997656 | SLC12A3 | c.2610C>G (p.Asn870Lys) c.2607C>G (p.Asn869Lys) c.2637C>G (p.Asn879Lys) c.2634C>G (p.Asn878Lys) | |
16 | g.56894619C>T | CA495612781 | SLC12A3 | c.2610C>T (p.Asn870=) c.2607C>T (p.Asn869=) c.2637C>T (p.Asn879=) c.2634C>T (p.Asn878=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894620A>C | CA495612782 | SLC12A3 | c.2611A>C (p.Arg871=) c.2608A>C (p.Arg870=) c.2638A>C (p.Arg880=) c.2635A>C (p.Arg879=) | |
16 | g.56894620A>G | CA395997658 | SLC12A3 | c.2611A>G (p.Arg871Gly) c.2608A>G (p.Arg870Gly) c.2638A>G (p.Arg880Gly) c.2635A>G (p.Arg879Gly) | gnomAD v4 |
16 | g.56894620A>T | CA395997660 | SLC12A3 | c.2611A>T (p.Arg871Trp) c.2608A>T (p.Arg870Trp) c.2638A>T (p.Arg880Trp) c.2635A>T (p.Arg879Trp) | |
16 | g.56894621G>A | CA395997669 | SLC12A3 | c.2612G>A (p.Arg871Lys) c.2609G>A (p.Arg870Lys) c.2639G>A (p.Arg880Lys) c.2636G>A (p.Arg879Lys) | COSMIC |
16 | g.56894621G>C | CA8069981 | SLC12A3 | c.2612G>C (p.Arg871Thr) c.2609G>C (p.Arg870Thr) c.2639G>C (p.Arg880Thr) c.2636G>C (p.Arg879Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894621G= | CA2224361255 | SLC12A3 | c.2612G= (p.Arg871=) c.2609G= (p.Arg870=) c.2639G= (p.Arg880=) c.2636G= (p.Arg879=) | |
16 | g.56894621G>T | CA395997664 | SLC12A3 | c.2612G>T (p.Arg871Met) c.2609G>T (p.Arg870Met) c.2639G>T (p.Arg880Met) c.2636G>T (p.Arg879Met) | |
16 | g.56894622G>A | CA495612783 | SLC12A3 | c.2613G>A (p.Arg871=) c.2610G>A (p.Arg870=) c.2640G>A (p.Arg880=) c.2637G>A (p.Arg879=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894622G>C | CA395997672 | SLC12A3 | c.2613G>C (p.Arg871Ser) c.2610G>C (p.Arg870Ser) c.2640G>C (p.Arg880Ser) c.2637G>C (p.Arg879Ser) | |
16 | g.56894622G= | CA2224361256 | SLC12A3 | c.2613G= (p.Arg871=) c.2610G= (p.Arg870=) c.2640G= (p.Arg880=) c.2637G= (p.Arg879=) | |
16 | g.56894622G>T | CA395997674 | SLC12A3 | c.2613G>T (p.Arg871Ser) c.2610G>T (p.Arg870Ser) c.2640G>T (p.Arg880Ser) c.2637G>T (p.Arg879Ser) | |
16 | g.56894623A= | CA2224361257 | SLC12A3 | c.2614A= (p.Met872=) c.2611A= (p.Met871=) c.2641A= (p.Met881=) c.2638A= (p.Met880=) | |
16 | g.56894623A>C | CA395997677 | SLC12A3 | c.2614A>C (p.Met872Leu) c.2611A>C (p.Met871Leu) c.2641A>C (p.Met881Leu) c.2638A>C (p.Met880Leu) | |
16 | g.56894623A>G | CA8069982 | SLC12A3 | c.2614A>G (p.Met872Val) c.2611A>G (p.Met871Val) c.2641A>G (p.Met881Val) c.2638A>G (p.Met880Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894623A>T | CA395997681 | SLC12A3 | c.2614A>T (p.Met872Leu) c.2611A>T (p.Met871Leu) c.2641A>T (p.Met881Leu) c.2638A>T (p.Met880Leu) | gnomAD v4 |
16 | g.56894624T>A | CA395997691 | SLC12A3 | c.2615T>A (p.Met872Lys) c.2612T>A (p.Met871Lys) c.2642T>A (p.Met881Lys) c.2639T>A (p.Met880Lys) | |
16 | g.56894624T>C | CA8069983 | SLC12A3 | c.2615T>C (p.Met872Thr) c.2612T>C (p.Met871Thr) c.2642T>C (p.Met881Thr) c.2639T>C (p.Met880Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894624T>G | CA395997684 | SLC12A3 | c.2615T>G (p.Met872Arg) c.2612T>G (p.Met871Arg) c.2642T>G (p.Met881Arg) c.2639T>G (p.Met880Arg) | |
16 | g.56894624T= | CA2224361258 | SLC12A3 | c.2615T= (p.Met872=) c.2612T= (p.Met871=) c.2642T= (p.Met881=) c.2639T= (p.Met880=) | |
16 | g.56894624_56894642dup | CA2739266783 | SLC12A3 | c.2615_2633dup (p.Ile879GlyfsTer20) c.2612_2630dup (p.Ile878GlyfsTer20) c.2642_2660dup (p.Ile888GlyfsTer20) c.2639_2657dup (p.Ile887GlyfsTer20) | ClinVar |
16 | g.56894625G>A | CA8069984 | SLC12A3 | c.2616G>A (p.Met872Ile) c.2613G>A (p.Met871Ile) c.2643G>A (p.Met881Ile) c.2640G>A (p.Met880Ile) | dbSNP ExAC gnomAD v2 |
16 | g.56894625G>C | CA395997693 | SLC12A3 | c.2616G>C (p.Met872Ile) c.2613G>C (p.Met871Ile) c.2643G>C (p.Met881Ile) c.2640G>C (p.Met880Ile) | |
16 | g.56894625G= | CA2224361259 | SLC12A3 | c.2616G= (p.Met872=) c.2613G= (p.Met871=) c.2643G= (p.Met881=) c.2640G= (p.Met880=) | |
16 | g.56894625G>T | CA395997695 | SLC12A3 | c.2616G>T (p.Met872Ile) c.2613G>T (p.Met871Ile) c.2643G>T (p.Met881Ile) c.2640G>T (p.Met880Ile) | |
16 | g.56894626G>A | CA395997698 | SLC12A3 | c.2617G>A (p.Asp873Asn) c.2614G>A (p.Asp872Asn) c.2644G>A (p.Asp882Asn) c.2641G>A (p.Asp881Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894626G>C | CA8069985 | SLC12A3 | c.2617G>C (p.Asp873His) c.2614G>C (p.Asp872His) c.2644G>C (p.Asp882His) c.2641G>C (p.Asp881His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894626G= | CA2224361260 | SLC12A3 | c.2617G= (p.Asp873=) c.2614G= (p.Asp872=) c.2644G= (p.Asp882=) c.2641G= (p.Asp881=) | |
16 | g.56894626G>T | CA395997701 | SLC12A3 | c.2617G>T (p.Asp873Tyr) c.2614G>T (p.Asp872Tyr) c.2644G>T (p.Asp882Tyr) c.2641G>T (p.Asp881Tyr) | |
16 | g.56894627A>C | CA395997710 | SLC12A3 | c.2618A>C (p.Asp873Ala) c.2615A>C (p.Asp872Ala) c.2645A>C (p.Asp882Ala) c.2642A>C (p.Asp881Ala) | |
16 | g.56894627A>G | CA395997704 | SLC12A3 | c.2618A>G (p.Asp873Gly) c.2615A>G (p.Asp872Gly) c.2645A>G (p.Asp882Gly) c.2642A>G (p.Asp881Gly) | COSMIC |
16 | g.56894627A>T | CA395997708 | SLC12A3 | c.2618A>T (p.Asp873Val) c.2615A>T (p.Asp872Val) c.2645A>T (p.Asp882Val) c.2642A>T (p.Asp881Val) | |
16 | g.56894628C>A | CA395997712 | SLC12A3 | c.2619C>A (p.Asp873Glu) c.2616C>A (p.Asp872Glu) c.2646C>A (p.Asp882Glu) c.2643C>A (p.Asp881Glu) | |
16 | g.56894628C>G | CA395997715 | SLC12A3 | c.2619C>G (p.Asp873Glu) c.2616C>G (p.Asp872Glu) c.2646C>G (p.Asp882Glu) c.2643C>G (p.Asp881Glu) | |
16 | g.56894628C>T | CA495612784 | SLC12A3 | c.2619C>T (p.Asp873=) c.2616C>T (p.Asp872=) c.2646C>T (p.Asp882=) c.2643C>T (p.Asp881=) | |
16 | g.56894629C>A | CA395997718 | SLC12A3 | c.2620C>A (p.Gln874Lys) c.2617C>A (p.Gln873Lys) c.2647C>A (p.Gln883Lys) c.2644C>A (p.Gln882Lys) | |
16 | g.56894629C= | CA2224361261 | SLC12A3 | c.2620C= (p.Gln874=) c.2617C= (p.Gln873=) c.2647C= (p.Gln883=) c.2644C= (p.Gln882=) | |
16 | g.56894629C>G | CA281514410 | SLC12A3 | c.2620C>G (p.Gln874Glu) c.2617C>G (p.Gln873Glu) c.2647C>G (p.Gln883Glu) c.2644C>G (p.Gln882Glu) | dbSNP |
16 | g.56894629C>T | CA395997725 | SLC12A3 | c.2620C>T (p.Gln874Ter) c.2617C>T (p.Gln873Ter) c.2647C>T (p.Gln883Ter) c.2644C>T (p.Gln882Ter) | |
16 | g.56894630A>C | CA395997728 | SLC12A3 | c.2621A>C (p.Gln874Pro) c.2618A>C (p.Gln873Pro) c.2648A>C (p.Gln883Pro) c.2645A>C (p.Gln882Pro) | |
16 | g.56894630A>G | CA395997730 | SLC12A3 | c.2621A>G (p.Gln874Arg) c.2618A>G (p.Gln873Arg) c.2648A>G (p.Gln883Arg) c.2645A>G (p.Gln882Arg) | |
16 | g.56894630A>T | CA395997733 | SLC12A3 | c.2621A>T (p.Gln874Leu) c.2618A>T (p.Gln873Leu) c.2648A>T (p.Gln883Leu) c.2645A>T (p.Gln882Leu) | |
16 | g.56894631G>A | CA495612785 | SLC12A3 | c.2622G>A (p.Gln874=) c.2619G>A (p.Gln873=) c.2649G>A (p.Gln883=) c.2646G>A (p.Gln882=) | ClinVar dbSNP COSMIC |
16 | g.56894631G>C | CA395997737 | SLC12A3 | c.2622G>C (p.Gln874His) c.2619G>C (p.Gln873His) c.2649G>C (p.Gln883His) c.2646G>C (p.Gln882His) | |
16 | g.56894631G>T | CA395997740 | SLC12A3 | c.2622G>T (p.Gln874His) c.2619G>T (p.Gln873His) c.2649G>T (p.Gln883His) c.2646G>T (p.Gln882His) | |
16 | g.56894632G>A | CA395997744 | SLC12A3 | c.2623G>A (p.Glu875Lys) c.2620G>A (p.Glu874Lys) c.2650G>A (p.Glu884Lys) c.2647G>A (p.Glu883Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894632G>C | CA395997748 | SLC12A3 | c.2623G>C (p.Glu875Gln) c.2620G>C (p.Glu874Gln) c.2650G>C (p.Glu884Gln) c.2647G>C (p.Glu883Gln) | gnomAD v4 |
16 | g.56894632G= | CA2224361262 | SLC12A3 | c.2623G= (p.Glu875=) c.2620G= (p.Glu874=) c.2650G= (p.Glu884=) c.2647G= (p.Glu883=) | |
16 | g.56894632G>T | CA395997751 | SLC12A3 | c.2623G>T (p.Glu875Ter) c.2620G>T (p.Glu874Ter) c.2650G>T (p.Glu884Ter) c.2647G>T (p.Glu883Ter) | |
16 | g.56894633A= | CA2224361263 | SLC12A3 | c.2624A= (p.Glu875=) c.2621A= (p.Glu874=) c.2651A= (p.Glu884=) c.2648A= (p.Glu883=) | |
16 | g.56894633A>C | CA395997753 | SLC12A3 | c.2624A>C (p.Glu875Ala) c.2621A>C (p.Glu874Ala) c.2651A>C (p.Glu884Ala) c.2648A>C (p.Glu883Ala) | |
16 | g.56894633A>G | CA8069986 | SLC12A3 | c.2624A>G (p.Glu875Gly) c.2621A>G (p.Glu874Gly) c.2651A>G (p.Glu884Gly) c.2648A>G (p.Glu883Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894633A>T | CA395997754 | SLC12A3 | c.2624A>T (p.Glu875Val) c.2621A>T (p.Glu874Val) c.2651A>T (p.Glu884Val) c.2648A>T (p.Glu883Val) | |
16 | g.56894634G>A | CA281514449 | SLC12A3 | c.2625G>A (p.Glu875=) c.2622G>A (p.Glu874=) c.2652G>A (p.Glu884=) c.2649G>A (p.Glu883=) | ClinVar dbSNP gnomAD v4 |
16 | g.56894634G>C | CA395997757 | SLC12A3 | c.2625G>C (p.Glu875Asp) c.2622G>C (p.Glu874Asp) c.2652G>C (p.Glu884Asp) c.2649G>C (p.Glu883Asp) | dbSNP |
16 | g.56894634G= | CA2224361264 | SLC12A3 | c.2625G= (p.Glu875=) c.2622G= (p.Glu874=) c.2652G= (p.Glu884=) c.2649G= (p.Glu883=) | |
16 | g.56894634G>T | CA395997764 | SLC12A3 | c.2625G>T (p.Glu875Asp) c.2622G>T (p.Glu874Asp) c.2652G>T (p.Glu884Asp) c.2649G>T (p.Glu883Asp) | |
16 | g.56894635A>C | CA495612786 | SLC12A3 | c.2626A>C (p.Arg876=) c.2623A>C (p.Arg875=) c.2653A>C (p.Arg885=) c.2650A>C (p.Arg884=) | |
16 | g.56894635A>G | CA395997766 | SLC12A3 | c.2626A>G (p.Arg876Gly) c.2623A>G (p.Arg875Gly) c.2653A>G (p.Arg885Gly) c.2650A>G (p.Arg884Gly) | |
16 | g.56894635A>T | CA395997768 | SLC12A3 | c.2626A>T (p.Arg876Ter) c.2623A>T (p.Arg875Ter) c.2653A>T (p.Arg885Ter) c.2650A>T (p.Arg884Ter) | |
16 | g.56894636G>A | CA395997769 | SLC12A3 | c.2627G>A (p.Arg876Lys) c.2624G>A (p.Arg875Lys) c.2654G>A (p.Arg885Lys) c.2651G>A (p.Arg884Lys) | gnomAD v4 |
16 | g.56894636G>C | CA395997771 | SLC12A3 | c.2627G>C (p.Arg876Thr) c.2624G>C (p.Arg875Thr) c.2654G>C (p.Arg885Thr) c.2651G>C (p.Arg884Thr) | |
16 | g.56894636G= | CA2224361265 | SLC12A3 | c.2627G= (p.Arg876=) c.2624G= (p.Arg875=) c.2654G= (p.Arg885=) c.2651G= (p.Arg884=) | |
16 | g.56894636G>T | CA281514454 | SLC12A3 | c.2627G>T (p.Arg876Ile) c.2624G>T (p.Arg875Ile) c.2654G>T (p.Arg885Ile) c.2651G>T (p.Arg884Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894637A>C | CA395997777 | SLC12A3 | c.2628A>C (p.Arg876Ser) c.2625A>C (p.Arg875Ser) c.2655A>C (p.Arg885Ser) c.2652A>C (p.Arg884Ser) | |
16 | g.56894637A>G | CA495612787 | SLC12A3 | c.2628A>G (p.Arg876=) c.2625A>G (p.Arg875=) c.2655A>G (p.Arg885=) c.2652A>G (p.Arg884=) | |
16 | g.56894637A>T | CA395997778 | SLC12A3 | c.2628A>T (p.Arg876Ser) c.2625A>T (p.Arg875Ser) c.2655A>T (p.Arg885Ser) c.2652A>T (p.Arg884Ser) | |
16 | g.56894638A>C | CA395997780 | SLC12A3 | c.2629A>C (p.Lys877Gln) c.2626A>C (p.Lys876Gln) c.2656A>C (p.Lys886Gln) c.2653A>C (p.Lys885Gln) | |
16 | g.56894638A>G | CA395997788 | SLC12A3 | c.2629A>G (p.Lys877Glu) c.2626A>G (p.Lys876Glu) c.2656A>G (p.Lys886Glu) c.2653A>G (p.Lys885Glu) | |
16 | g.56894638A>T | CA395997791 | SLC12A3 | c.2629A>T (p.Lys877Ter) c.2626A>T (p.Lys876Ter) c.2656A>T (p.Lys886Ter) c.2653A>T (p.Lys885Ter) | |
16 | g.56894639A= | CA2224361266 | SLC12A3 | c.2630A= (p.Lys877=) c.2627A= (p.Lys876=) c.2657A= (p.Lys886=) c.2654A= (p.Lys885=) | |
16 | g.56894639A>C | CA395997796 | SLC12A3 | c.2630A>C (p.Lys877Thr) c.2627A>C (p.Lys876Thr) c.2657A>C (p.Lys886Thr) c.2654A>C (p.Lys885Thr) | |
16 | g.56894639A>G | CA395997793 | SLC12A3 | c.2630A>G (p.Lys877Arg) c.2627A>G (p.Lys876Arg) c.2657A>G (p.Lys886Arg) c.2654A>G (p.Lys885Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894639A>T | CA395997794 | SLC12A3 | c.2630A>T (p.Lys877Met) c.2627A>T (p.Lys876Met) c.2657A>T (p.Lys886Met) c.2654A>T (p.Lys885Met) | |
16 | g.56894640G>A | CA495612788 | SLC12A3 | c.2631G>A (p.Lys877=) c.2628G>A (p.Lys876=) c.2658G>A (p.Lys886=) c.2655G>A (p.Lys885=) | |
16 | g.56894640G>C | CA395997806 | SLC12A3 | c.2631G>C (p.Lys877Asn) c.2628G>C (p.Lys876Asn) c.2658G>C (p.Lys886Asn) c.2655G>C (p.Lys885Asn) | |
16 | g.56894640G>T | CA395997809 | SLC12A3 | c.2631G>T (p.Lys877Asn) c.2628G>T (p.Lys876Asn) c.2658G>T (p.Lys886Asn) c.2655G>T (p.Lys885Asn) | |
16 | g.56894641G>A | CA395997812 | SLC12A3 | c.2632G>A (p.Ala878Thr) c.2629G>A (p.Ala877Thr) c.2659G>A (p.Ala887Thr) c.2656G>A (p.Ala886Thr) | gnomAD v4 COSMIC |
16 | g.56894641G>C | CA395997814 | SLC12A3 | c.2632G>C (p.Ala878Pro) c.2629G>C (p.Ala877Pro) c.2659G>C (p.Ala887Pro) c.2656G>C (p.Ala886Pro) | |
16 | g.56894641G>T | CA395997818 | SLC12A3 | c.2632G>T (p.Ala878Ser) c.2629G>T (p.Ala877Ser) c.2659G>T (p.Ala887Ser) c.2656G>T (p.Ala886Ser) | |
16 | g.56894642C>A | CA395997820 | SLC12A3 | c.2633C>A (p.Ala878Glu) c.2630C>A (p.Ala877Glu) c.2660C>A (p.Ala887Glu) c.2657C>A (p.Ala886Glu) | |
16 | g.56894642C= | CA2224361267 | SLC12A3 | c.2633C= (p.Ala878=) c.2630C= (p.Ala877=) c.2660C= (p.Ala887=) c.2657C= (p.Ala886=) | |
16 | g.56894642C>G | CA395997824 | SLC12A3 | c.2633C>G (p.Ala878Gly) c.2630C>G (p.Ala877Gly) c.2660C>G (p.Ala887Gly) c.2657C>G (p.Ala886Gly) | |
16 | g.56894642C>T | CA8069987 | SLC12A3 | c.2633C>T (p.Ala878Val) c.2630C>T (p.Ala877Val) c.2660C>T (p.Ala887Val) c.2657C>T (p.Ala886Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.56894643del | CA2633374482 | SLC12A3 | c.2633+1del (n.2633+1del) c.2630+1del (n.2630+1del) c.2660+1del (n.2660+1del) c.2657+1del (n.2657+1del) | gnomAD v4 |
16 | g.56894643G>A | CA8069988 | SLC12A3 | c.2633+1G>A (n.2633+1G>A) c.2630+1G>A (n.2630+1G>A) c.2660+1G>A (n.2660+1G>A) c.2657+1G>A (n.2657+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894643G>C | CA395997828 | SLC12A3 | c.2633+1G>C (n.2633+1G>C) c.2630+1G>C (n.2630+1G>C) c.2660+1G>C (n.2660+1G>C) c.2657+1G>C (n.2657+1G>C) | gnomAD v4 |
16 | g.56894643G= | CA2224361268 | SLC12A3 | c.2633+1G= (n.2633+1G=) c.2630+1G= (n.2630+1G=) c.2660+1G= (n.2660+1G=) c.2657+1G= (n.2657+1G=) | |
16 | g.56894643G>T | CA395997830 | SLC12A3 | c.2633+1G>T (n.2633+1G>T) c.2630+1G>T (n.2630+1G>T) c.2660+1G>T (n.2660+1G>T) c.2657+1G>T (n.2657+1G>T) | |
16 | g.56894644del | CA2633374483 | SLC12A3 | c.2633+2del (n.2633+2del) c.2630+2del (n.2630+2del) c.2660+2del (n.2660+2del) c.2657+2del (n.2657+2del) | gnomAD v4 |
16 | g.56894644T>A | CA395997838 | SLC12A3 | c.2633+2T>A (n.2633+2T>A) c.2630+2T>A (n.2630+2T>A) c.2660+2T>A (n.2660+2T>A) c.2657+2T>A (n.2657+2T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894644T>C | CA395997835 | SLC12A3 | c.2633+2T>C (n.2633+2T>C) c.2630+2T>C (n.2630+2T>C) c.2660+2T>C (n.2660+2T>C) c.2657+2T>C (n.2657+2T>C) | |
16 | g.56894644T>G | CA395997833 | SLC12A3 | c.2633+2T>G (n.2633+2T>G) c.2630+2T>G (n.2630+2T>G) c.2660+2T>G (n.2660+2T>G) c.2657+2T>G (n.2657+2T>G) | ClinVar |
16 | g.56894644T= | CA2224361269 | SLC12A3 | c.2633+2T= (n.2633+2T=) c.2630+2T= (n.2630+2T=) c.2660+2T= (n.2660+2T=) c.2657+2T= (n.2657+2T=) | |
16 | g.56894644dup | CA8069989 | SLC12A3 | c.2633+2dup (n.2633+2dup) c.2630+2dup (n.2630+2dup) c.2660+2dup (n.2660+2dup) c.2657+2dup (n.2657+2dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894645A>G | CA2633374484 | SLC12A3 | c.2633+3A>G (n.2633+3A>G) c.2630+3A>G (n.2630+3A>G) c.2660+3A>G (n.2660+3A>G) c.2657+3A>G (n.2657+3A>G) | gnomAD v4 |
16 | g.56894647G>A | CA2224361271 | SLC12A3 | c.2633+5G>A (n.2633+5G>A) c.2630+5G>A (n.2630+5G>A) c.2660+5G>A (n.2660+5G>A) c.2657+5G>A (n.2657+5G>A) | dbSNP |
16 | g.56894647G= | CA2224361270 | SLC12A3 | c.2633+5G= (n.2633+5G=) c.2630+5G= (n.2630+5G=) c.2660+5G= (n.2660+5G=) c.2657+5G= (n.2657+5G=) | |
16 | g.56894648T>A | CA8069990 | SLC12A3 | c.2633+6T>A (n.2633+6T>A) c.2630+6T>A (n.2630+6T>A) c.2660+6T>A (n.2660+6T>A) c.2657+6T>A (n.2657+6T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894648T>C | CA2633374485 | SLC12A3 | c.2633+6T>C (n.2633+6T>C) c.2630+6T>C (n.2630+6T>C) c.2660+6T>C (n.2660+6T>C) c.2657+6T>C (n.2657+6T>C) | gnomAD v4 |
16 | g.56894648T= | CA2224361272 | SLC12A3 | c.2633+6T= (n.2633+6T=) c.2630+6T= (n.2630+6T=) c.2660+6T= (n.2660+6T=) c.2657+6T= (n.2657+6T=) | |
16 | g.56894649G>A | CA915949275 | SLC12A3 | c.2633+7G>A (n.2633+7G>A) c.2630+7G>A (n.2630+7G>A) c.2660+7G>A (n.2660+7G>A) c.2657+7G>A (n.2657+7G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.56894649G= | CA2224361273 | SLC12A3 | c.2633+7G= (n.2633+7G=) c.2630+7G= (n.2630+7G=) c.2660+7G= (n.2660+7G=) c.2657+7G= (n.2657+7G=) | |
16 | g.56894650T>C | CA622340537 | SLC12A3 | c.2633+8T>C (n.2633+8T>C) c.2630+8T>C (n.2630+8T>C) c.2660+8T>C (n.2660+8T>C) c.2657+8T>C (n.2657+8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894650T= | CA2224361274 | SLC12A3 | c.2633+8T= (n.2633+8T=) c.2630+8T= (n.2630+8T=) c.2660+8T= (n.2660+8T=) c.2657+8T= (n.2657+8T=) | |
16 | g.56894652del | CA2580091702 | SLC12A3 | c.2633+10del (n.2633+10del) c.2630+10del (n.2630+10del) c.2660+10del (n.2660+10del) c.2657+10del (n.2657+10del) | ClinVar |
16 | g.56894654G>A | CA2633374486 | SLC12A3 | c.2633+12G>A (n.2633+12G>A) c.2630+12G>A (n.2630+12G>A) c.2660+12G>A (n.2660+12G>A) c.2657+12G>A (n.2657+12G>A) | gnomAD v4 |
16 | g.56894657C>A | CA2633374487 | SLC12A3 | c.2633+15C>A (n.2633+15C>A) c.2630+15C>A (n.2630+15C>A) c.2660+15C>A (n.2660+15C>A) c.2657+15C>A (n.2657+15C>A) | gnomAD v4 |
16 | g.56894660G= | CA2224361275 | SLC12A3 | c.2633+18G= (n.2633+18G=) c.2630+18G= (n.2630+18G=) c.2660+18G= (n.2660+18G=) c.2657+18G= (n.2657+18G=) | |
16 | g.56894660G>T | CA2224361276 | SLC12A3 | c.2633+18G>T (n.2633+18G>T) c.2630+18G>T (n.2630+18G>T) c.2660+18G>T (n.2660+18G>T) c.2657+18G>T (n.2657+18G>T) | dbSNP |
16 | g.56894661C>A | CA2633374488 | SLC12A3 | c.2633+19C>A (n.2633+19C>A) c.2630+19C>A (n.2630+19C>A) c.2660+19C>A (n.2660+19C>A) c.2657+19C>A (n.2657+19C>A) | gnomAD v4 |
16 | g.56894661C= | CA2224361277 | SLC12A3 | c.2633+19C= (n.2633+19C=) c.2630+19C= (n.2630+19C=) c.2660+19C= (n.2660+19C=) c.2657+19C= (n.2657+19C=) | |
16 | g.56894661C>T | CA622340538 | SLC12A3 | c.2633+19C>T (n.2633+19C>T) c.2630+19C>T (n.2630+19C>T) c.2660+19C>T (n.2660+19C>T) c.2657+19C>T (n.2657+19C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894662C>A | CA2633374489 | SLC12A3 | c.2633+20C>A (n.2633+20C>A) c.2630+20C>A (n.2630+20C>A) c.2660+20C>A (n.2660+20C>A) c.2657+20C>A (n.2657+20C>A) | gnomAD v4 |
16 | g.56894662C= | CA2224361278 | SLC12A3 | c.2633+20C= (n.2633+20C=) c.2630+20C= (n.2630+20C=) c.2660+20C= (n.2660+20C=) c.2657+20C= (n.2657+20C=) | |
16 | g.56894662C>G | CA2224361279 | SLC12A3 | c.2633+20C>G (n.2633+20C>G) c.2630+20C>G (n.2630+20C>G) c.2660+20C>G (n.2660+20C>G) c.2657+20C>G (n.2657+20C>G) | dbSNP |
16 | g.56894663T>C | CA281514468 | SLC12A3 | c.2633+21T>C (n.2633+21T>C) c.2630+21T>C (n.2630+21T>C) c.2660+21T>C (n.2660+21T>C) c.2657+21T>C (n.2657+21T>C) | dbSNP |
16 | g.56894663T= | CA2224361280 | SLC12A3 | c.2633+21T= (n.2633+21T=) c.2630+21T= (n.2630+21T=) c.2660+21T= (n.2660+21T=) c.2657+21T= (n.2657+21T=) | |
16 | g.56894663_56894664delinsTG | CA2224361281 | SLC12A3 | c.2633+21_2633+22delinsTG (n.2633+21_2633+22delinsTG) c.2630+21_2630+22delinsTG (n.2630+21_2630+22delinsTG) c.2660+21_2660+22delinsTG (n.2660+21_2660+22delinsTG) c.2657+21_2657+22delinsTG (n.2657+21_2657+22delinsTG) | |
16 | g.56894668dup | CA622340542 | SLC12A3 | c.2633+26dup (n.2633+26dup) c.2630+26dup (n.2630+26dup) c.2660+26dup (n.2660+26dup) c.2657+26dup (n.2657+26dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894668del | CA622340539 | SLC12A3 | c.2633+26del (n.2633+26del) c.2630+26del (n.2630+26del) c.2660+26del (n.2660+26del) c.2657+26del (n.2657+26del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894665G>A | CA2633374490 | SLC12A3 | c.2633+23G>A (n.2633+23G>A) c.2630+23G>A (n.2630+23G>A) c.2660+23G>A (n.2660+23G>A) c.2657+23G>A (n.2657+23G>A) | gnomAD v4 |
16 | g.56894666G>A | CA2633374491 | SLC12A3 | c.2633+24G>A (n.2633+24G>A) c.2630+24G>A (n.2630+24G>A) c.2660+24G>A (n.2660+24G>A) c.2657+24G>A (n.2657+24G>A) | gnomAD v4 |
16 | g.56894666G>C | CA2633374494 | SLC12A3 | c.2633+24G>C (n.2633+24G>C) c.2630+24G>C (n.2630+24G>C) c.2660+24G>C (n.2660+24G>C) c.2657+24G>C (n.2657+24G>C) | gnomAD v4 |
16 | g.56894667G>A | CA8069991 | SLC12A3 | c.2633+25G>A (n.2633+25G>A) c.2630+25G>A (n.2630+25G>A) c.2660+25G>A (n.2660+25G>A) c.2657+25G>A (n.2657+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894667G= | CA2224361282 | SLC12A3 | c.2633+25G= (n.2633+25G=) c.2630+25G= (n.2630+25G=) c.2660+25G= (n.2660+25G=) c.2657+25G= (n.2657+25G=) | |
16 | g.56894668G>A | CA2224361284 | SLC12A3 | c.2633+26G>A (n.2633+26G>A) c.2630+26G>A (n.2630+26G>A) c.2660+26G>A (n.2660+26G>A) c.2657+26G>A (n.2657+26G>A) | dbSNP gnomAD v4 |
16 | g.56894668G= | CA2224361283 | SLC12A3 | c.2633+26G= (n.2633+26G=) c.2630+26G= (n.2630+26G=) c.2660+26G= (n.2660+26G=) c.2657+26G= (n.2657+26G=) | |
16 | g.56894668G>T | CA2633374496 | SLC12A3 | c.2633+26G>T (n.2633+26G>T) c.2630+26G>T (n.2630+26G>T) c.2660+26G>T (n.2660+26G>T) c.2657+26G>T (n.2657+26G>T) | gnomAD v4 |
16 | g.56894669T>G | CA2224361286 | SLC12A3 | c.2633+27T>G (n.2633+27T>G) c.2630+27T>G (n.2630+27T>G) c.2660+27T>G (n.2660+27T>G) c.2657+27T>G (n.2657+27T>G) | dbSNP |
16 | g.56894669T= | CA2224361285 | SLC12A3 | c.2633+27T= (n.2633+27T=) c.2630+27T= (n.2630+27T=) c.2660+27T= (n.2660+27T=) c.2657+27T= (n.2657+27T=) | |
16 | g.56894670G>T | CA2633374497 | SLC12A3 | c.2633+28G>T (n.2633+28G>T) c.2630+28G>T (n.2630+28G>T) c.2660+28G>T (n.2660+28G>T) c.2657+28G>T (n.2657+28G>T) | gnomAD v4 |
16 | g.56894673T>A | CA8069992 | SLC12A3 | c.2633+31T>A (n.2633+31T>A) c.2630+31T>A (n.2630+31T>A) c.2660+31T>A (n.2660+31T>A) c.2657+31T>A (n.2657+31T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894673T>C | CA2633374500 | SLC12A3 | c.2633+31T>C (n.2633+31T>C) c.2630+31T>C (n.2630+31T>C) c.2660+31T>C (n.2660+31T>C) c.2657+31T>C (n.2657+31T>C) | gnomAD v4 |
16 | g.56894673T>G | CA2633374501 | SLC12A3 | c.2633+31T>G (n.2633+31T>G) c.2630+31T>G (n.2630+31T>G) c.2660+31T>G (n.2660+31T>G) c.2657+31T>G (n.2657+31T>G) | gnomAD v4 |
16 | g.56894673T= | CA2224361287 | SLC12A3 | c.2633+31T= (n.2633+31T=) c.2630+31T= (n.2630+31T=) c.2660+31T= (n.2660+31T=) c.2657+31T= (n.2657+31T=) | |
16 | g.56894674G>A | CA622340549 | SLC12A3 | c.2633+32G>A (n.2633+32G>A) c.2630+32G>A (n.2630+32G>A) c.2660+32G>A (n.2660+32G>A) c.2657+32G>A (n.2657+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894674G= | CA2224361288 | SLC12A3 | c.2633+32G= (n.2633+32G=) c.2630+32G= (n.2630+32G=) c.2660+32G= (n.2660+32G=) c.2657+32G= (n.2657+32G=) | |
16 | g.56894674G>T | CA8069993 | SLC12A3 | c.2633+32G>T (n.2633+32G>T) c.2630+32G>T (n.2630+32G>T) c.2660+32G>T (n.2660+32G>T) c.2657+32G>T (n.2657+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894675C>A | CA2224361290 | SLC12A3 | c.2633+33C>A (n.2633+33C>A) c.2630+33C>A (n.2630+33C>A) c.2660+33C>A (n.2660+33C>A) c.2657+33C>A (n.2657+33C>A) | dbSNP gnomAD v4 |
16 | g.56894675C= | CA2224361289 | SLC12A3 | c.2633+33C= (n.2633+33C=) c.2630+33C= (n.2630+33C=) c.2660+33C= (n.2660+33C=) c.2657+33C= (n.2657+33C=) | |
16 | g.56894675C>T | CA2633374511 | SLC12A3 | c.2633+33C>T (n.2633+33C>T) c.2630+33C>T (n.2630+33C>T) c.2660+33C>T (n.2660+33C>T) c.2657+33C>T (n.2657+33C>T) | gnomAD v4 |
16 | g.56894677G>A | CA721944482 | SLC12A3 | c.2633+35G>A (n.2633+35G>A) c.2630+35G>A (n.2630+35G>A) c.2660+35G>A (n.2660+35G>A) c.2657+35G>A (n.2657+35G>A) | dbSNP |
16 | g.56894677G= | CA2224361291 | SLC12A3 | c.2633+35G= (n.2633+35G=) c.2630+35G= (n.2630+35G=) c.2660+35G= (n.2660+35G=) c.2657+35G= (n.2657+35G=) | |
16 | g.56894677G>T | CA2633374512 | SLC12A3 | c.2633+35G>T (n.2633+35G>T) c.2630+35G>T (n.2630+35G>T) c.2660+35G>T (n.2660+35G>T) c.2657+35G>T (n.2657+35G>T) | gnomAD v4 |
16 | g.56894678G>A | CA8069994 | SLC12A3 | c.2633+36G>A (n.2633+36G>A) c.2630+36G>A (n.2630+36G>A) c.2660+36G>A (n.2660+36G>A) c.2657+36G>A (n.2657+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894678G= | CA2224361292 | SLC12A3 | c.2633+36G= (n.2633+36G=) c.2630+36G= (n.2630+36G=) c.2660+36G= (n.2660+36G=) c.2657+36G= (n.2657+36G=) | |
16 | g.56894679G>A | CA622340552 | SLC12A3 | c.2633+37G>A (n.2633+37G>A) c.2630+37G>A (n.2630+37G>A) c.2660+37G>A (n.2660+37G>A) c.2657+37G>A (n.2657+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894679G= | CA2224361293 | SLC12A3 | c.2633+37G= (n.2633+37G=) c.2630+37G= (n.2630+37G=) c.2660+37G= (n.2660+37G=) c.2657+37G= (n.2657+37G=) | |
16 | g.56894679G>T | CA622340553 | SLC12A3 | c.2633+37G>T (n.2633+37G>T) c.2630+37G>T (n.2630+37G>T) c.2660+37G>T (n.2660+37G>T) c.2657+37G>T (n.2657+37G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894680A= | CA2224361294 | SLC12A3 | c.2633+38A= (n.2633+38A=) c.2630+38A= (n.2630+38A=) c.2660+38A= (n.2660+38A=) c.2657+38A= (n.2657+38A=) | |
16 | g.56894680A>C | CA2576002282 | SLC12A3 | c.2633+38A>C (n.2633+38A>C) c.2630+38A>C (n.2630+38A>C) c.2660+38A>C (n.2660+38A>C) c.2657+38A>C (n.2657+38A>C) | |
16 | g.56894680A>G | CA721944487 | SLC12A3 | c.2633+38A>G (n.2633+38A>G) c.2630+38A>G (n.2630+38A>G) c.2660+38A>G (n.2660+38A>G) c.2657+38A>G (n.2657+38A>G) | dbSNP gnomAD v4 |
16 | g.56894682C>A | CA2576002283 | SLC12A3 | c.2633+40C>A (n.2633+40C>A) c.2630+40C>A (n.2630+40C>A) c.2660+40C>A (n.2660+40C>A) c.2657+40C>A (n.2657+40C>A) | gnomAD v4 |
16 | g.56894683A>G | CA2633374525 | SLC12A3 | c.2633+41A>G (n.2633+41A>G) c.2630+41A>G (n.2630+41A>G) c.2660+41A>G (n.2660+41A>G) c.2657+41A>G (n.2657+41A>G) | gnomAD v4 |
16 | g.56894684G>C | CA721944488 | SLC12A3 | c.2633+42G>C (n.2633+42G>C) c.2630+42G>C (n.2630+42G>C) c.2660+42G>C (n.2660+42G>C) c.2657+42G>C (n.2657+42G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894684G= | CA2224361295 | SLC12A3 | c.2633+42G= (n.2633+42G=) c.2630+42G= (n.2630+42G=) c.2660+42G= (n.2660+42G=) c.2657+42G= (n.2657+42G=) | |
16 | g.56894685T>G | CA2596112705 | SLC12A3 | c.2633+43T>G (n.2633+43T>G) c.2630+43T>G (n.2630+43T>G) c.2660+43T>G (n.2660+43T>G) c.2657+43T>G (n.2657+43T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894685_56894686delinsTG | CA2224361296 | SLC12A3 | c.2633+43_2633+44delinsTG (n.2633+43_2633+44delinsTG) c.2630+43_2630+44delinsTG (n.2630+43_2630+44delinsTG) c.2660+43_2660+44delinsTG (n.2660+43_2660+44delinsTG) c.2657+43_2657+44delinsTG (n.2657+43_2657+44delinsTG) | |
16 | g.56894686del | CA8069995 | SLC12A3 | c.2633+44del (n.2633+44del) c.2630+44del (n.2630+44del) c.2660+44del (n.2660+44del) c.2657+44del (n.2657+44del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894686G>A | CA2576002284 | SLC12A3 | c.2633+44G>A (n.2633+44G>A) c.2630+44G>A (n.2630+44G>A) c.2660+44G>A (n.2660+44G>A) c.2657+44G>A (n.2657+44G>A) | |
16 | g.56894686_56894735del | CA2633374529 | SLC12A3 | c.2633+44_2633+93del (n.2633+44_2633+93del) c.2630+44_2630+93del (n.2630+44_2630+93del) c.2660+44_2660+93del (n.2660+44_2660+93del) c.2657+44_2657+93del (n.2657+44_2657+93del) | gnomAD v4 |
16 | g.56894687T>A | CA2633374531 | SLC12A3 | c.2633+45T>A (n.2633+45T>A) c.2630+45T>A (n.2630+45T>A) c.2660+45T>A (n.2660+45T>A) c.2657+45T>A (n.2657+45T>A) | gnomAD v4 |
16 | g.56894687T>C | CA2554533465 | SLC12A3 | c.2633+45T>C (n.2633+45T>C) c.2630+45T>C (n.2630+45T>C) c.2660+45T>C (n.2660+45T>C) c.2657+45T>C (n.2657+45T>C) | |
16 | g.56894687T>G | CA2552328409 | SLC12A3 | c.2633+45T>G (n.2633+45T>G) c.2630+45T>G (n.2630+45T>G) c.2660+45T>G (n.2660+45T>G) c.2657+45T>G (n.2657+45T>G) | |
16 | g.56894688C>A | CA2633374534 | SLC12A3 | c.2633+46C>A (n.2633+46C>A) c.2630+46C>A (n.2630+46C>A) c.2660+46C>A (n.2660+46C>A) c.2657+46C>A (n.2657+46C>A) | gnomAD v4 |
16 | g.56894689A>G | CA2576002285 | SLC12A3 | c.2633+47A>G (n.2633+47A>G) c.2630+47A>G (n.2630+47A>G) c.2660+47A>G (n.2660+47A>G) c.2657+47A>G (n.2657+47A>G) | |
16 | g.56894690T>A | CA721944490 | SLC12A3 | c.2633+48T>A (n.2633+48T>A) c.2630+48T>A (n.2630+48T>A) c.2660+48T>A (n.2660+48T>A) c.2657+48T>A (n.2657+48T>A) | dbSNP |
16 | g.56894690T>C | CA2576002286 | SLC12A3 | c.2633+48T>C (n.2633+48T>C) c.2630+48T>C (n.2630+48T>C) c.2660+48T>C (n.2660+48T>C) c.2657+48T>C (n.2657+48T>C) | |
16 | g.56894690T= | CA2224361297 | SLC12A3 | c.2633+48T= (n.2633+48T=) c.2630+48T= (n.2630+48T=) c.2660+48T= (n.2660+48T=) c.2657+48T= (n.2657+48T=) | |
16 | g.56894691C= | CA2224361298 | SLC12A3 | c.2633+49C= (n.2633+49C=) c.2630+49C= (n.2630+49C=) c.2660+49C= (n.2660+49C=) c.2657+49C= (n.2657+49C=) | |
16 | g.56894691C>T | CA8069996 | SLC12A3 | c.2633+49C>T (n.2633+49C>T) c.2630+49C>T (n.2630+49C>T) c.2660+49C>T (n.2660+49C>T) c.2657+49C>T (n.2657+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894692T>G | CA2224361300 | SLC12A3 | c.2633+50T>G (n.2633+50T>G) c.2630+50T>G (n.2630+50T>G) c.2660+50T>G (n.2660+50T>G) c.2657+50T>G (n.2657+50T>G) | dbSNP |
16 | g.56894692T= | CA2224361299 | SLC12A3 | c.2633+50T= (n.2633+50T=) c.2630+50T= (n.2630+50T=) c.2660+50T= (n.2660+50T=) c.2657+50T= (n.2657+50T=) | |
16 | g.56894693T>A | CA2633374539 | SLC12A3 | c.2633+51T>A (n.2633+51T>A) c.2630+51T>A (n.2630+51T>A) c.2660+51T>A (n.2660+51T>A) c.2657+51T>A (n.2657+51T>A) | gnomAD v4 |
16 | g.56894695G>T | CA2633374540 | SLC12A3 | c.2633+53G>T (n.2633+53G>T) c.2630+53G>T (n.2630+53G>T) c.2660+53G>T (n.2660+53G>T) c.2657+53G>T (n.2657+53G>T) | gnomAD v4 |
16 | g.56894696C>A | CA2576002287 | SLC12A3 | c.2633+54C>A (n.2633+54C>A) c.2630+54C>A (n.2630+54C>A) c.2660+54C>A (n.2660+54C>A) c.2657+54C>A (n.2657+54C>A) | gnomAD v4 |
16 | g.56894696C>T | CA2807154328 | SLC12A3 | c.2633+54C>T (n.2633+54C>T) c.2630+54C>T (n.2630+54C>T) c.2660+54C>T (n.2660+54C>T) c.2657+54C>T (n.2657+54C>T) | |
16 | g.56894697T>C | CA2633374544 | SLC12A3 | c.2633+55T>C (n.2633+55T>C) c.2630+55T>C (n.2630+55T>C) c.2660+55T>C (n.2660+55T>C) c.2657+55T>C (n.2657+55T>C) | gnomAD v4 |
16 | g.56894698C>A | CA2576002288 | SLC12A3 | c.2633+56C>A (n.2633+56C>A) c.2630+56C>A (n.2630+56C>A) c.2660+56C>A (n.2660+56C>A) c.2657+56C>A (n.2657+56C>A) | gnomAD v4 |
16 | g.56894698C>G | CA2633374552 | SLC12A3 | c.2633+56C>G (n.2633+56C>G) c.2630+56C>G (n.2630+56C>G) c.2660+56C>G (n.2660+56C>G) c.2657+56C>G (n.2657+56C>G) | gnomAD v4 |
16 | g.56894698C>T | CA2576002289 | SLC12A3 | c.2633+56C>T (n.2633+56C>T) c.2630+56C>T (n.2630+56C>T) c.2660+56C>T (n.2660+56C>T) c.2657+56C>T (n.2657+56C>T) | gnomAD v4 |
16 | g.56894699del | CA2633374548 | SLC12A3 | c.2633+57del (n.2633+57del) c.2630+57del (n.2630+57del) c.2660+57del (n.2660+57del) c.2657+57del (n.2657+57del) | gnomAD v4 |