Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56904414T>A | CA396002292 | SLC12A3 | c.2876T>A (p.Leu959Gln) c.2873T>A (p.Leu958Gln) c.2903T>A (p.Leu968Gln) c.2900T>A (p.Leu967Gln) n.307T>A | |
16 | g.56904414T>C | CA396002299 | SLC12A3 | c.2876T>C (p.Leu959Pro) c.2873T>C (p.Leu958Pro) c.2903T>C (p.Leu968Pro) c.2900T>C (p.Leu967Pro) n.307T>C | |
16 | g.56904414T>G | CA396002300 | SLC12A3 | c.2876T>G (p.Leu959Arg) c.2873T>G (p.Leu958Arg) c.2903T>G (p.Leu968Arg) c.2900T>G (p.Leu967Arg) n.307T>G | |
16 | g.56904415G>A | CA495613559 | SLC12A3 | c.2877G>A (p.Leu959=) c.2874G>A (p.Leu958=) c.2904G>A (p.Leu968=) c.2901G>A (p.Leu967=) n.308G>A | dbSNP gnomAD v2 |
16 | g.56904415G>C | CA495613560 | SLC12A3 | c.2877G>C (p.Leu959=) c.2874G>C (p.Leu958=) c.2904G>C (p.Leu968=) c.2901G>C (p.Leu967=) n.308G>C | |
16 | g.56904415G= | CA2224365734 | SLC12A3 | c.2877G= (p.Leu959=) c.2874G= (p.Leu958=) c.2904G= (p.Leu968=) c.2901G= (p.Leu967=) n.308G= | |
16 | g.56904415G>T | CA495613561 | SLC12A3 | c.2877G>T (p.Leu959=) c.2874G>T (p.Leu958=) c.2904G>T (p.Leu968=) c.2901G>T (p.Leu967=) n.308G>T | gnomAD v4 |
16 | g.56904416A>C | CA396002305 | SLC12A3 | c.2878A>C (p.Asn960His) c.2875A>C (p.Asn959His) c.2905A>C (p.Asn969His) c.2902A>C (p.Asn968His) n.309A>C | |
16 | g.56904416A>G | CA396002313 | SLC12A3 | c.2878A>G (p.Asn960Asp) c.2875A>G (p.Asn959Asp) c.2905A>G (p.Asn969Asp) c.2902A>G (p.Asn968Asp) n.309A>G | |
16 | g.56904416A>T | CA396002316 | SLC12A3 | c.2878A>T (p.Asn960Tyr) c.2875A>T (p.Asn959Tyr) c.2905A>T (p.Asn969Tyr) c.2902A>T (p.Asn968Tyr) n.309A>T | |
16 | g.56904417A>C | CA396002319 | SLC12A3 | c.2879A>C (p.Asn960Thr) c.2876A>C (p.Asn959Thr) c.2906A>C (p.Asn969Thr) c.2903A>C (p.Asn968Thr) n.310A>C | |
16 | g.56904417A>G | CA396002320 | SLC12A3 | c.2879A>G (p.Asn960Ser) c.2876A>G (p.Asn959Ser) c.2906A>G (p.Asn969Ser) c.2903A>G (p.Asn968Ser) n.310A>G | |
16 | g.56904417A>T | CA396002323 | SLC12A3 | c.2879A>T (p.Asn960Ile) c.2876A>T (p.Asn959Ile) c.2906A>T (p.Asn969Ile) c.2903A>T (p.Asn968Ile) n.310A>T | |
16 | g.56904418T>A | CA396002325 | SLC12A3 | c.2880T>A (p.Asn960Lys) c.2877T>A (p.Asn959Lys) c.2907T>A (p.Asn969Lys) c.2904T>A (p.Asn968Lys) n.311T>A | |
16 | g.56904418T>C | CA495613562 | SLC12A3 | c.2880T>C (p.Asn960=) c.2877T>C (p.Asn959=) c.2907T>C (p.Asn969=) c.2904T>C (p.Asn968=) n.311T>C | |
16 | g.56904418T>G | CA396002327 | SLC12A3 | c.2880T>G (p.Asn960Lys) c.2877T>G (p.Asn959Lys) c.2907T>G (p.Asn969Lys) c.2904T>G (p.Asn968Lys) n.311T>G | gnomAD v4 |
16 | g.56904419G>A | CA396002332 | SLC12A3 | c.2881G>A (p.Glu961Lys) c.2878G>A (p.Glu960Lys) c.2908G>A (p.Glu970Lys) c.2905G>A (p.Glu969Lys) n.312G>A | gnomAD v4 |
16 | g.56904419G>C | CA396002336 | SLC12A3 | c.2881G>C (p.Glu961Gln) c.2878G>C (p.Glu960Gln) c.2908G>C (p.Glu970Gln) c.2905G>C (p.Glu969Gln) n.312G>C | |
16 | g.56904419G>T | CA396002335 | SLC12A3 | c.2881G>T (p.Glu961Ter) c.2878G>T (p.Glu960Ter) c.2908G>T (p.Glu970Ter) c.2905G>T (p.Glu969Ter) n.312G>T | |
16 | g.56904420A>C | CA396002337 | SLC12A3 | c.2882A>C (p.Glu961Ala) c.2879A>C (p.Glu960Ala) c.2909A>C (p.Glu970Ala) c.2906A>C (p.Glu969Ala) n.313A>C | |
16 | g.56904420A>G | CA396002338 | SLC12A3 | c.2882A>G (p.Glu961Gly) c.2879A>G (p.Glu960Gly) c.2909A>G (p.Glu970Gly) c.2906A>G (p.Glu969Gly) n.313A>G | |
16 | g.56904420A>T | CA396002339 | SLC12A3 | c.2882A>T (p.Glu961Val) c.2879A>T (p.Glu960Val) c.2909A>T (p.Glu970Val) c.2906A>T (p.Glu969Val) n.313A>T | |
16 | g.56904421G>A | CA495613563 | SLC12A3 | c.2883G>A (p.Glu961=) c.2880G>A (p.Glu960=) c.2910G>A (p.Glu970=) c.2907G>A (p.Glu969=) n.314G>A | |
16 | g.56904421G>C | CA396002340 | SLC12A3 | c.2883G>C (p.Glu961Asp) c.2880G>C (p.Glu960Asp) c.2910G>C (p.Glu970Asp) c.2907G>C (p.Glu969Asp) n.314G>C | |
16 | g.56904421G>T | CA396002343 | SLC12A3 | c.2883G>T (p.Glu961Asp) c.2880G>T (p.Glu960Asp) c.2910G>T (p.Glu970Asp) c.2907G>T (p.Glu969Asp) n.314G>T | |
16 | g.56904422A= | CA2224365735 | SLC12A3 | c.2884A= (p.Ile962=) c.2881A= (p.Ile961=) c.2911A= (p.Ile971=) c.2908A= (p.Ile970=) n.315A= | |
16 | g.56904422A>C | CA396002345 | SLC12A3 | c.2884A>C (p.Ile962Leu) c.2881A>C (p.Ile961Leu) c.2911A>C (p.Ile971Leu) c.2908A>C (p.Ile970Leu) n.315A>C | |
16 | g.56904422A>G | CA396002347 | SLC12A3 | c.2884A>G (p.Ile962Val) c.2881A>G (p.Ile961Val) c.2911A>G (p.Ile971Val) c.2908A>G (p.Ile970Val) n.315A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904422A>T | CA396002350 | SLC12A3 | c.2884A>T (p.Ile962Phe) c.2881A>T (p.Ile961Phe) c.2911A>T (p.Ile971Phe) c.2908A>T (p.Ile970Phe) n.315A>T | |
16 | g.56904423T>A | CA396002355 | SLC12A3 | c.2885T>A (p.Ile962Asn) c.2882T>A (p.Ile961Asn) c.2912T>A (p.Ile971Asn) c.2909T>A (p.Ile970Asn) n.316T>A | |
16 | g.56904423T>C | CA396002356 | SLC12A3 | c.2885T>C (p.Ile962Thr) c.2882T>C (p.Ile961Thr) c.2912T>C (p.Ile971Thr) c.2909T>C (p.Ile970Thr) n.316T>C | |
16 | g.56904423T>G | CA396002358 | SLC12A3 | c.2885T>G (p.Ile962Ser) c.2882T>G (p.Ile961Ser) c.2912T>G (p.Ile971Ser) c.2909T>G (p.Ile970Ser) n.316T>G | COSMIC |
16 | g.56904424T>A | CA495613564 | SLC12A3 | c.2886T>A (p.Ile962=) c.2883T>A (p.Ile961=) c.2913T>A (p.Ile971=) c.2910T>A (p.Ile970=) n.317T>A | |
16 | g.56904424T>C | CA495613565 | SLC12A3 | c.2886T>C (p.Ile962=) c.2883T>C (p.Ile961=) c.2913T>C (p.Ile971=) c.2910T>C (p.Ile970=) n.317T>C | |
16 | g.56904424T>G | CA396002361 | SLC12A3 | c.2886T>G (p.Ile962Met) c.2883T>G (p.Ile961Met) c.2913T>G (p.Ile971Met) c.2910T>G (p.Ile970Met) n.317T>G | |
16 | g.56904425G>A | CA396002365 | SLC12A3 | c.2887G>A (p.Val963Met) c.2884G>A (p.Val962Met) c.2914G>A (p.Val972Met) c.2911G>A (p.Val971Met) n.318G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904425G>C | CA396002362 | SLC12A3 | c.2887G>C (p.Val963Leu) c.2884G>C (p.Val962Leu) c.2914G>C (p.Val972Leu) c.2911G>C (p.Val971Leu) n.318G>C | dbSNP |
16 | g.56904425G= | CA2224365736 | SLC12A3 | c.2887G= (p.Val963=) c.2884G= (p.Val962=) c.2914G= (p.Val972=) c.2911G= (p.Val971=) n.318G= | |
16 | g.56904425G>T | CA396002363 | SLC12A3 | c.2887G>T (p.Val963Leu) c.2884G>T (p.Val962Leu) c.2914G>T (p.Val972Leu) c.2911G>T (p.Val971Leu) n.318G>T | |
16 | g.56904426T>A | CA396002367 | SLC12A3 | c.2888T>A (p.Val963Glu) c.2885T>A (p.Val962Glu) c.2915T>A (p.Val972Glu) c.2912T>A (p.Val971Glu) n.319T>A | |
16 | g.56904426T>C | CA396002368 | SLC12A3 | c.2888T>C (p.Val963Ala) c.2885T>C (p.Val962Ala) c.2915T>C (p.Val972Ala) c.2912T>C (p.Val971Ala) n.319T>C | |
16 | g.56904426T>G | CA396002372 | SLC12A3 | c.2888T>G (p.Val963Gly) c.2885T>G (p.Val962Gly) c.2915T>G (p.Val972Gly) c.2912T>G (p.Val971Gly) n.319T>G | |
16 | g.56904427G>A | CA495613567 | SLC12A3 | c.2889G>A (p.Val963=) c.2886G>A (p.Val962=) c.2916G>A (p.Val972=) c.2913G>A (p.Val971=) n.320G>A | |
16 | g.56904427G>C | CA495613568 | SLC12A3 | c.2889G>C (p.Val963=) c.2886G>C (p.Val962=) c.2916G>C (p.Val972=) c.2913G>C (p.Val971=) n.320G>C | |
16 | g.56904427G= | CA2224365737 | SLC12A3 | c.2889G= (p.Val963=) c.2886G= (p.Val962=) c.2916G= (p.Val972=) c.2913G= (p.Val971=) n.320G= | |
16 | g.56904427G>T | CA495613569 | SLC12A3 | c.2889G>T (p.Val963=) c.2886G>T (p.Val962=) c.2916G>T (p.Val972=) c.2913G>T (p.Val971=) n.320G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56904428C>A | CA396002374 | SLC12A3 | c.2890C>A (p.Leu964Met) c.2887C>A (p.Leu963Met) c.2917C>A (p.Leu973Met) c.2914C>A (p.Leu972Met) n.321C>A | |
16 | g.56904428C= | CA2224365738 | SLC12A3 | c.2890C= (p.Leu964=) c.2887C= (p.Leu963=) c.2917C= (p.Leu973=) c.2914C= (p.Leu972=) n.321C= | |
16 | g.56904428C>G | CA396002376 | SLC12A3 | c.2890C>G (p.Leu964Val) c.2887C>G (p.Leu963Val) c.2917C>G (p.Leu973Val) c.2914C>G (p.Leu972Val) n.321C>G | |
16 | g.56904428C>T | CA495613570 | SLC12A3 | c.2890C>T (p.Leu964=) c.2887C>T (p.Leu963=) c.2917C>T (p.Leu973=) c.2914C>T (p.Leu972=) n.321C>T | ClinVar dbSNP |
16 | g.56904429T>A | CA396002380 | SLC12A3 | c.2891T>A (p.Leu964Gln) c.2888T>A (p.Leu963Gln) c.2918T>A (p.Leu973Gln) c.2915T>A (p.Leu972Gln) n.322T>A | |
16 | g.56904429T>C | CA396002394 | SLC12A3 | c.2891T>C (p.Leu964Pro) c.2888T>C (p.Leu963Pro) c.2918T>C (p.Leu973Pro) c.2915T>C (p.Leu972Pro) n.322T>C | dbSNP |
16 | g.56904429T>G | CA396002396 | SLC12A3 | c.2891T>G (p.Leu964Arg) c.2888T>G (p.Leu963Arg) c.2918T>G (p.Leu973Arg) c.2915T>G (p.Leu972Arg) n.322T>G | |
16 | g.56904429T= | CA2224365739 | SLC12A3 | c.2891T= (p.Leu964=) c.2888T= (p.Leu963=) c.2918T= (p.Leu973=) c.2915T= (p.Leu972=) n.322T= | |
16 | g.56904430G>A | CA495613571 | SLC12A3 | c.2892G>A (p.Leu964=) c.2889G>A (p.Leu963=) c.2919G>A (p.Leu973=) c.2916G>A (p.Leu972=) n.323G>A | |
16 | g.56904430G>C | CA495613572 | SLC12A3 | c.2892G>C (p.Leu964=) c.2889G>C (p.Leu963=) c.2919G>C (p.Leu973=) c.2916G>C (p.Leu972=) n.323G>C | |
16 | g.56904430G>T | CA495613573 | SLC12A3 | c.2892G>T (p.Leu964=) c.2889G>T (p.Leu963=) c.2919G>T (p.Leu973=) c.2916G>T (p.Leu972=) n.323G>T | |
16 | g.56904431G>A | CA396002400 | SLC12A3 | c.2893G>A (p.Asp965Asn) c.2890G>A (p.Asp964Asn) c.2920G>A (p.Asp974Asn) c.2917G>A (p.Asp973Asn) n.324G>A | |
16 | g.56904431G>C | CA396002402 | SLC12A3 | c.2893G>C (p.Asp965His) c.2890G>C (p.Asp964His) c.2920G>C (p.Asp974His) c.2917G>C (p.Asp973His) n.324G>C | |
16 | g.56904431G= | CA2224365740 | SLC12A3 | c.2893G= (p.Asp965=) c.2890G= (p.Asp964=) c.2920G= (p.Asp974=) c.2917G= (p.Asp973=) n.324G= | |
16 | g.56904431G>T | CA8070137 | SLC12A3 | c.2893G>T (p.Asp965Tyr) c.2890G>T (p.Asp964Tyr) c.2920G>T (p.Asp974Tyr) c.2917G>T (p.Asp973Tyr) n.324G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904432A= | CA2224365741 | SLC12A3 | c.2894A= (p.Asp965=) c.2891A= (p.Asp964=) c.2921A= (p.Asp974=) c.2918A= (p.Asp973=) n.325A= | |
16 | g.56904432A>C | CA396002412 | SLC12A3 | c.2894A>C (p.Asp965Ala) c.2891A>C (p.Asp964Ala) c.2921A>C (p.Asp974Ala) c.2918A>C (p.Asp973Ala) n.325A>C | |
16 | g.56904432A>G | CA396002411 | SLC12A3 | c.2894A>G (p.Asp965Gly) c.2891A>G (p.Asp964Gly) c.2921A>G (p.Asp974Gly) c.2918A>G (p.Asp973Gly) n.325A>G | dbSNP |
16 | g.56904432A>T | CA396002409 | SLC12A3 | c.2894A>T (p.Asp965Val) c.2891A>T (p.Asp964Val) c.2921A>T (p.Asp974Val) c.2918A>T (p.Asp973Val) n.325A>T | |
16 | g.56904433T>A | CA396002414 | SLC12A3 | c.2895T>A (p.Asp965Glu) c.2892T>A (p.Asp964Glu) c.2922T>A (p.Asp974Glu) c.2919T>A (p.Asp973Glu) n.326T>A | |
16 | g.56904433T>C | CA495613575 | SLC12A3 | c.2895T>C (p.Asp965=) c.2892T>C (p.Asp964=) c.2922T>C (p.Asp974=) c.2919T>C (p.Asp973=) n.326T>C | |
16 | g.56904433T>G | CA396002417 | SLC12A3 | c.2895T>G (p.Asp965Glu) c.2892T>G (p.Asp964Glu) c.2922T>G (p.Asp974Glu) c.2919T>G (p.Asp973Glu) n.326T>G | |
16 | g.56904434T>A | CA396002420 | SLC12A3 | c.2896T>A (p.Tyr966Asn) c.2893T>A (p.Tyr965Asn) c.2923T>A (p.Tyr975Asn) c.2920T>A (p.Tyr974Asn) n.327T>A | |
16 | g.56904434T>C | CA396002422 | SLC12A3 | c.2896T>C (p.Tyr966His) c.2893T>C (p.Tyr965His) c.2923T>C (p.Tyr975His) c.2920T>C (p.Tyr974His) n.327T>C | |
16 | g.56904434T>G | CA396002421 | SLC12A3 | c.2896T>G (p.Tyr966Asp) c.2893T>G (p.Tyr965Asp) c.2923T>G (p.Tyr975Asp) c.2920T>G (p.Tyr974Asp) n.327T>G | |
16 | g.56904435A= | CA2224365742 | SLC12A3 | c.2897A= (p.Tyr966=) c.2894A= (p.Tyr965=) c.2924A= (p.Tyr975=) c.2921A= (p.Tyr974=) n.328A= | |
16 | g.56904435A>C | CA396002423 | SLC12A3 | c.2897A>C (p.Tyr966Ser) c.2894A>C (p.Tyr965Ser) c.2924A>C (p.Tyr975Ser) c.2921A>C (p.Tyr974Ser) n.328A>C | |
16 | g.56904435A>G | CA396002425 | SLC12A3 | c.2897A>G (p.Tyr966Cys) c.2894A>G (p.Tyr965Cys) c.2924A>G (p.Tyr975Cys) c.2921A>G (p.Tyr974Cys) n.328A>G | |
16 | g.56904435A>T | CA8070138 | SLC12A3 | c.2897A>T (p.Tyr966Phe) c.2894A>T (p.Tyr965Phe) c.2924A>T (p.Tyr975Phe) c.2921A>T (p.Tyr974Phe) n.328A>T | dbSNP ExAC gnomAD v2 |
16 | g.56904436C>A | CA396002426 | SLC12A3 | c.2898C>A (p.Tyr966Ter) c.2895C>A (p.Tyr965Ter) c.2925C>A (p.Tyr975Ter) c.2922C>A (p.Tyr974Ter) n.329C>A | |
16 | g.56904436C>G | CA396002427 | SLC12A3 | c.2898C>G (p.Tyr966Ter) c.2895C>G (p.Tyr965Ter) c.2925C>G (p.Tyr975Ter) c.2922C>G (p.Tyr974Ter) n.329C>G | |
16 | g.56904436C>T | CA495613578 | SLC12A3 | c.2898C>T (p.Tyr966=) c.2895C>T (p.Tyr965=) c.2925C>T (p.Tyr975=) c.2922C>T (p.Tyr974=) n.329C>T | ClinVar |
16 | g.56904437T>A | CA396002432 | SLC12A3 | c.2899T>A (p.Ser967Thr) c.2896T>A (p.Ser966Thr) c.2926T>A (p.Ser976Thr) c.2923T>A (p.Ser975Thr) n.330T>A | ClinVar |
16 | g.56904437T>C | CA396002430 | SLC12A3 | c.2899T>C (p.Ser967Pro) c.2896T>C (p.Ser966Pro) c.2926T>C (p.Ser976Pro) c.2923T>C (p.Ser975Pro) n.330T>C | |
16 | g.56904437T>G | CA396002428 | SLC12A3 | c.2899T>G (p.Ser967Ala) c.2896T>G (p.Ser966Ala) c.2926T>G (p.Ser976Ala) c.2923T>G (p.Ser975Ala) n.330T>G | |
16 | g.56904438C>A | CA396002437 | SLC12A3 | c.2900C>A (p.Ser967Tyr) c.2897C>A (p.Ser966Tyr) c.2927C>A (p.Ser976Tyr) c.2924C>A (p.Ser975Tyr) n.331C>A | |
16 | g.56904438C= | CA2224365743 | SLC12A3 | c.2900C= (p.Ser967=) c.2897C= (p.Ser966=) c.2927C= (p.Ser976=) c.2924C= (p.Ser975=) n.331C= | |
16 | g.56904438C>G | CA396002439 | SLC12A3 | c.2900C>G (p.Ser967Cys) c.2897C>G (p.Ser966Cys) c.2927C>G (p.Ser976Cys) c.2924C>G (p.Ser975Cys) n.331C>G | |
16 | g.56904438C>T | CA8070139 | SLC12A3 | c.2900C>T (p.Ser967Phe) c.2897C>T (p.Ser966Phe) c.2927C>T (p.Ser976Phe) c.2924C>T (p.Ser975Phe) n.331C>T | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.56904440dup | CA2843111739 | SLC12A3 | c.2902dup (p.Arg968ProfsTer?) c.2899dup (p.Arg967ProfsTer?) c.2929dup (p.Arg977ProfsTer?) c.2926dup (p.Arg976ProfsTer?) n.333dup | |
16 | g.56904439C>A | CA495613580 | SLC12A3 | c.2901C>A (p.Ser967=) c.2898C>A (p.Ser966=) c.2928C>A (p.Ser976=) c.2925C>A (p.Ser975=) n.332C>A | |
16 | g.56904439C>G | CA495613581 | SLC12A3 | c.2901C>G (p.Ser967=) c.2898C>G (p.Ser966=) c.2928C>G (p.Ser976=) c.2925C>G (p.Ser975=) n.332C>G | |
16 | g.56904439C>T | CA495613582 | SLC12A3 | c.2901C>T (p.Ser967=) c.2898C>T (p.Ser966=) c.2928C>T (p.Ser976=) c.2925C>T (p.Ser975=) n.332C>T | |
16 | g.56904440C>A | CA8070140 | SLC12A3 | c.2902C>A (p.Arg968=) c.2899C>A (p.Arg967=) c.2929C>A (p.Arg977=) c.2926C>A (p.Arg976=) n.333C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904440C= | CA2224365744 | SLC12A3 | c.2902C= (p.Arg968=) c.2899C= (p.Arg967=) c.2929C= (p.Arg977=) c.2926C= (p.Arg976=) n.333C= | |
16 | g.56904440C>G | CA396002445 | SLC12A3 | c.2902C>G (p.Arg968Gly) c.2899C>G (p.Arg967Gly) c.2929C>G (p.Arg977Gly) c.2926C>G (p.Arg976Gly) n.333C>G | |
16 | g.56904440C>T | CA8070141 | SLC12A3 | c.2902C>T (p.Arg968Ter) c.2899C>T (p.Arg967Ter) c.2929C>T (p.Arg977Ter) c.2926C>T (p.Arg976Ter) n.333C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904441G>A | CA8070142 | SLC12A3 | c.2903G>A (p.Arg968Gln) c.2900G>A (p.Arg967Gln) c.2930G>A (p.Arg977Gln) c.2927G>A (p.Arg976Gln) n.334G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904441G>C | CA396002450 | SLC12A3 | c.2903G>C (p.Arg968Pro) c.2900G>C (p.Arg967Pro) c.2930G>C (p.Arg977Pro) c.2927G>C (p.Arg976Pro) n.334G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904441G= | CA2224365745 | SLC12A3 | c.2903G= (p.Arg968=) c.2900G= (p.Arg967=) c.2930G= (p.Arg977=) c.2927G= (p.Arg976=) n.334G= | |
16 | g.56904441G>T | CA396002455 | SLC12A3 | c.2903G>T (p.Arg968Leu) c.2900G>T (p.Arg967Leu) c.2930G>T (p.Arg977Leu) c.2927G>T (p.Arg976Leu) n.334G>T | |
16 | g.56904442A>C | CA495613584 | SLC12A3 | c.2904A>C (p.Arg968=) c.2901A>C (p.Arg967=) c.2931A>C (p.Arg977=) c.2928A>C (p.Arg976=) n.335A>C | gnomAD v4 |
16 | g.56904442A>G | CA495613585 | SLC12A3 | c.2904A>G (p.Arg968=) c.2901A>G (p.Arg967=) c.2931A>G (p.Arg977=) c.2928A>G (p.Arg976=) n.335A>G | |
16 | g.56904442A>T | CA495613586 | SLC12A3 | c.2904A>T (p.Arg968=) c.2901A>T (p.Arg967=) c.2931A>T (p.Arg977=) c.2928A>T (p.Arg976=) n.335A>T | |
16 | g.56904443G>A | CA396002465 | SLC12A3 | c.2905G>A (p.Asp969Asn) c.2902G>A (p.Asp968Asn) c.2932G>A (p.Asp978Asn) c.2929G>A (p.Asp977Asn) n.336G>A | dbSNP |
16 | g.56904443G>C | CA396002468 | SLC12A3 | c.2905G>C (p.Asp969His) c.2902G>C (p.Asp968His) c.2932G>C (p.Asp978His) c.2929G>C (p.Asp977His) n.336G>C | |
16 | g.56904443G= | CA2224365746 | SLC12A3 | c.2905G= (p.Asp969=) c.2902G= (p.Asp968=) c.2932G= (p.Asp978=) c.2929G= (p.Asp977=) n.336G= | |
16 | g.56904443G>T | CA396002472 | SLC12A3 | c.2905G>T (p.Asp969Tyr) c.2902G>T (p.Asp968Tyr) c.2932G>T (p.Asp978Tyr) c.2929G>T (p.Asp977Tyr) n.336G>T | |
16 | g.56904444A= | CA2224365748 | SLC12A3 | c.2906A= (p.Asp969=) c.2903A= (p.Asp968=) c.2933A= (p.Asp978=) c.2930A= (p.Asp977=) n.337A= | |
16 | g.56904444A>C | CA396002477 | SLC12A3 | c.2906A>C (p.Asp969Ala) c.2903A>C (p.Asp968Ala) c.2933A>C (p.Asp978Ala) c.2930A>C (p.Asp977Ala) n.337A>C | |
16 | g.56904444A>G | CA396002479 | SLC12A3 | c.2906A>G (p.Asp969Gly) c.2903A>G (p.Asp968Gly) c.2933A>G (p.Asp978Gly) c.2930A>G (p.Asp977Gly) n.337A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904444A>T | CA396002481 | SLC12A3 | c.2906A>T (p.Asp969Val) c.2903A>T (p.Asp968Val) c.2933A>T (p.Asp978Val) c.2930A>T (p.Asp977Val) n.337A>T | |
16 | g.56904444_56904445delinsAC | CA2224365747 | SLC12A3 | c.2906_2907delinsAC (p.Asp969=) c.2903_2904delinsAC (p.Asp968=) c.2933_2934delinsAC (p.Asp978=) c.2930_2931delinsAC (p.Asp977=) n.337_338delinsAC | |
16 | g.56904445del | CA721950747 | SLC12A3 | c.2907del (p.Asp969GlufsTer11) c.2904del (p.Asp968GlufsTer11) c.2934del (p.Asp978GlufsTer11) c.2931del (p.Asp977GlufsTer11) n.338del | ClinVar dbSNP |
16 | g.56904445C>A | CA396002487 | SLC12A3 | c.2907C>A (p.Asp969Glu) c.2904C>A (p.Asp968Glu) c.2934C>A (p.Asp978Glu) c.2931C>A (p.Asp977Glu) n.338C>A | |
16 | g.56904445C= | CA2224365749 | SLC12A3 | c.2907C= (p.Asp969=) c.2904C= (p.Asp968=) c.2934C= (p.Asp978=) c.2931C= (p.Asp977=) n.338C= | |
16 | g.56904445C>G | CA396002490 | SLC12A3 | c.2907C>G (p.Asp969Glu) c.2904C>G (p.Asp968Glu) c.2934C>G (p.Asp978Glu) c.2931C>G (p.Asp977Glu) n.338C>G | |
16 | g.56904445C>T | CA8070143 | SLC12A3 | c.2907C>T (p.Asp969=) c.2904C>T (p.Asp968=) c.2934C>T (p.Asp978=) c.2931C>T (p.Asp977=) n.338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904446G>A | CA8070144 | SLC12A3 | c.2908G>A (p.Ala970Thr) c.2905G>A (p.Ala969Thr) c.2935G>A (p.Ala979Thr) c.2932G>A (p.Ala978Thr) n.339G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904446G>C | CA396002501 | SLC12A3 | c.2908G>C (p.Ala970Pro) c.2905G>C (p.Ala969Pro) c.2935G>C (p.Ala979Pro) c.2932G>C (p.Ala978Pro) n.339G>C | |
16 | g.56904446G= | CA2224365750 | SLC12A3 | c.2908G= (p.Ala970=) c.2905G= (p.Ala969=) c.2935G= (p.Ala979=) c.2932G= (p.Ala978=) n.339G= | |
16 | g.56904446G>T | CA396002505 | SLC12A3 | c.2908G>T (p.Ala970Ser) c.2905G>T (p.Ala969Ser) c.2935G>T (p.Ala979Ser) c.2932G>T (p.Ala978Ser) n.339G>T | dbSNP gnomAD v4 |
16 | g.56904447C>A | CA396002511 | SLC12A3 | c.2909C>A (p.Ala970Asp) c.2906C>A (p.Ala969Asp) c.2936C>A (p.Ala979Asp) c.2933C>A (p.Ala978Asp) n.340C>A | |
16 | g.56904447C>G | CA396002519 | SLC12A3 | c.2909C>G (p.Ala970Gly) c.2906C>G (p.Ala969Gly) c.2936C>G (p.Ala979Gly) c.2933C>G (p.Ala978Gly) n.340C>G | |
16 | g.56904447C>T | CA396002517 | SLC12A3 | c.2909C>T (p.Ala970Val) c.2906C>T (p.Ala969Val) c.2936C>T (p.Ala979Val) c.2933C>T (p.Ala978Val) n.340C>T | |
16 | g.56904448T>A | CA8070145 | SLC12A3 | c.2910T>A (p.Ala970=) c.2907T>A (p.Ala969=) c.2937T>A (p.Ala979=) c.2934T>A (p.Ala978=) n.341T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904448T>C | CA281521321 | SLC12A3 | c.2910T>C (p.Ala970=) c.2907T>C (p.Ala969=) c.2937T>C (p.Ala979=) c.2934T>C (p.Ala978=) n.341T>C | dbSNP |
16 | g.56904448T>G | CA495613588 | SLC12A3 | c.2910T>G (p.Ala970=) c.2907T>G (p.Ala969=) c.2937T>G (p.Ala979=) c.2934T>G (p.Ala978=) n.341T>G | |
16 | g.56904448T= | CA2224365751 | SLC12A3 | c.2910T= (p.Ala970=) c.2907T= (p.Ala969=) c.2937T= (p.Ala979=) c.2934T= (p.Ala978=) n.341T= | |
16 | g.56904449del | CA2807160867 | SLC12A3 | c.2911del (p.Ala971LeufsTer9) c.2908del (p.Ala970LeufsTer9) c.2938del (p.Ala980LeufsTer9) c.2935del (p.Ala979LeufsTer9) n.342del | |
16 | g.56904449G>A | CA396002528 | SLC12A3 | c.2911G>A (p.Ala971Thr) c.2908G>A (p.Ala970Thr) c.2938G>A (p.Ala980Thr) c.2935G>A (p.Ala979Thr) n.342G>A | ClinVar dbSNP |
16 | g.56904449G>C | CA396002531 | SLC12A3 | c.2911G>C (p.Ala971Pro) c.2908G>C (p.Ala970Pro) c.2938G>C (p.Ala980Pro) c.2935G>C (p.Ala979Pro) n.342G>C | gnomAD v4 |
16 | g.56904449G>T | CA396002536 | SLC12A3 | c.2911G>T (p.Ala971Ser) c.2908G>T (p.Ala970Ser) c.2938G>T (p.Ala980Ser) c.2935G>T (p.Ala979Ser) n.342G>T | gnomAD v4 |
16 | g.56904450C>A | CA396002541 | SLC12A3 | c.2912C>A (p.Ala971Asp) c.2909C>A (p.Ala970Asp) c.2939C>A (p.Ala980Asp) c.2936C>A (p.Ala979Asp) n.343C>A | |
16 | g.56904450C>G | CA396002543 | SLC12A3 | c.2912C>G (p.Ala971Gly) c.2909C>G (p.Ala970Gly) c.2939C>G (p.Ala980Gly) c.2936C>G (p.Ala979Gly) n.343C>G | |
16 | g.56904450C>T | CA396002547 | SLC12A3 | c.2912C>T (p.Ala971Val) c.2909C>T (p.Ala970Val) c.2939C>T (p.Ala980Val) c.2936C>T (p.Ala979Val) n.343C>T | gnomAD v4 |
16 | g.56904451T>A | CA495613589 | SLC12A3 | c.2913T>A (p.Ala971=) c.2910T>A (p.Ala970=) c.2940T>A (p.Ala980=) c.2937T>A (p.Ala979=) n.344T>A | |
16 | g.56904451T>C | CA281521333 | SLC12A3 | c.2913T>C (p.Ala971=) c.2910T>C (p.Ala970=) c.2940T>C (p.Ala980=) c.2937T>C (p.Ala979=) n.344T>C | dbSNP gnomAD v4 |
16 | g.56904451T>G | CA495613590 | SLC12A3 | c.2913T>G (p.Ala971=) c.2910T>G (p.Ala970=) c.2940T>G (p.Ala980=) c.2937T>G (p.Ala979=) n.344T>G | ClinVar dbSNP gnomAD v4 |
16 | g.56904451T= | CA2224365752 | SLC12A3 | c.2913T= (p.Ala971=) c.2910T= (p.Ala970=) c.2940T= (p.Ala980=) c.2937T= (p.Ala979=) n.344T= | |
16 | g.56904452C>A | CA396002553 | SLC12A3 | c.2914C>A (p.Leu972Ile) c.2911C>A (p.Leu971Ile) c.2941C>A (p.Leu981Ile) c.2938C>A (p.Leu980Ile) n.345C>A | |
16 | g.56904452C>G | CA396002559 | SLC12A3 | c.2914C>G (p.Leu972Val) c.2911C>G (p.Leu971Val) c.2941C>G (p.Leu981Val) c.2938C>G (p.Leu980Val) n.345C>G | |
16 | g.56904452C>T | CA396002561 | SLC12A3 | c.2914C>T (p.Leu972Phe) c.2911C>T (p.Leu971Phe) c.2941C>T (p.Leu981Phe) c.2938C>T (p.Leu980Phe) n.345C>T | gnomAD v4 |
16 | g.56904453T>A | CA396002566 | SLC12A3 | c.2915T>A (p.Leu972His) c.2912T>A (p.Leu971His) c.2942T>A (p.Leu981His) c.2939T>A (p.Leu980His) n.346T>A | |
16 | g.56904453T>C | CA396002575 | SLC12A3 | c.2915T>C (p.Leu972Pro) c.2912T>C (p.Leu971Pro) c.2942T>C (p.Leu981Pro) c.2939T>C (p.Leu980Pro) n.346T>C | |
16 | g.56904453T>G | CA396002580 | SLC12A3 | c.2915T>G (p.Leu972Arg) c.2912T>G (p.Leu971Arg) c.2942T>G (p.Leu981Arg) c.2939T>G (p.Leu980Arg) n.346T>G | |
16 | g.56904454C>A | CA495613592 | SLC12A3 | c.2916C>A (p.Leu972=) c.2913C>A (p.Leu971=) c.2943C>A (p.Leu981=) c.2940C>A (p.Leu980=) n.347C>A | |
16 | g.56904454C= | CA2224365753 | SLC12A3 | c.2916C= (p.Leu972=) c.2913C= (p.Leu971=) c.2943C= (p.Leu981=) c.2940C= (p.Leu980=) n.347C= | |
16 | g.56904454C>G | CA495613593 | SLC12A3 | c.2916C>G (p.Leu972=) c.2913C>G (p.Leu971=) c.2943C>G (p.Leu981=) c.2940C>G (p.Leu980=) n.347C>G | |
16 | g.56904454C>T | CA495613594 | SLC12A3 | c.2916C>T (p.Leu972=) c.2913C>T (p.Leu971=) c.2943C>T (p.Leu981=) c.2940C>T (p.Leu980=) n.347C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904455A>C | CA396002585 | SLC12A3 | c.2917A>C (p.Ile973Leu) c.2914A>C (p.Ile972Leu) c.2944A>C (p.Ile982Leu) c.2941A>C (p.Ile981Leu) n.348A>C | gnomAD v4 |
16 | g.56904455A>G | CA396002596 | SLC12A3 | c.2917A>G (p.Ile973Val) c.2914A>G (p.Ile972Val) c.2944A>G (p.Ile982Val) c.2941A>G (p.Ile981Val) n.348A>G | gnomAD v4 |
16 | g.56904455A>T | CA396002590 | SLC12A3 | c.2917A>T (p.Ile973Phe) c.2914A>T (p.Ile972Phe) c.2944A>T (p.Ile982Phe) c.2941A>T (p.Ile981Phe) n.348A>T | |
16 | g.56904456T>A | CA396002598 | SLC12A3 | c.2918T>A (p.Ile973Asn) c.2915T>A (p.Ile972Asn) c.2945T>A (p.Ile982Asn) c.2942T>A (p.Ile981Asn) n.349T>A | |
16 | g.56904456T>C | CA396002600 | SLC12A3 | c.2918T>C (p.Ile973Thr) c.2915T>C (p.Ile972Thr) c.2945T>C (p.Ile982Thr) c.2942T>C (p.Ile981Thr) n.349T>C | |
16 | g.56904456T>G | CA396002603 | SLC12A3 | c.2918T>G (p.Ile973Ser) c.2915T>G (p.Ile972Ser) c.2945T>G (p.Ile982Ser) c.2942T>G (p.Ile981Ser) n.349T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904456T= | CA2224365754 | SLC12A3 | c.2918T= (p.Ile973=) c.2915T= (p.Ile972=) c.2945T= (p.Ile982=) c.2942T= (p.Ile981=) n.349T= | |
16 | g.56904457C>A | CA495613596 | SLC12A3 | c.2919C>A (p.Ile973=) c.2916C>A (p.Ile972=) c.2946C>A (p.Ile982=) c.2943C>A (p.Ile981=) n.350C>A | dbSNP gnomAD v4 |
16 | g.56904457C= | CA2224365755 | SLC12A3 | c.2919C= (p.Ile973=) c.2916C= (p.Ile972=) c.2946C= (p.Ile982=) c.2943C= (p.Ile981=) n.350C= | |
16 | g.56904457C>G | CA396002611 | SLC12A3 | c.2919C>G (p.Ile973Met) c.2916C>G (p.Ile972Met) c.2946C>G (p.Ile982Met) c.2943C>G (p.Ile981Met) n.350C>G | |
16 | g.56904457C>T | CA8070146 | SLC12A3 | c.2919C>T (p.Ile973=) c.2916C>T (p.Ile972=) c.2946C>T (p.Ile982=) c.2943C>T (p.Ile981=) n.350C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904457dup | CA977656551 | SLC12A3 | c.2919dup (p.Val974ArgfsTer?) c.2916dup (p.Val973ArgfsTer?) c.2946dup (p.Val983ArgfsTer?) c.2943dup (p.Val982ArgfsTer?) n.350dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904458G>A | CA8070147 | SLC12A3 | c.2920G>A (p.Val974Ile) c.2917G>A (p.Val973Ile) c.2947G>A (p.Val983Ile) c.2944G>A (p.Val982Ile) n.351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56904458G>C | CA396002617 | SLC12A3 | c.2920G>C (p.Val974Leu) c.2917G>C (p.Val973Leu) c.2947G>C (p.Val983Leu) c.2944G>C (p.Val982Leu) n.351G>C | |
16 | g.56904458G= | CA2224365756 | SLC12A3 | c.2920G= (p.Val974=) c.2917G= (p.Val973=) c.2947G= (p.Val983=) c.2944G= (p.Val982=) n.351G= | |
16 | g.56904458G>T | CA396002624 | SLC12A3 | c.2920G>T (p.Val974Phe) c.2917G>T (p.Val973Phe) c.2947G>T (p.Val983Phe) c.2944G>T (p.Val982Phe) n.351G>T | |
16 | g.56904459T>A | CA396002630 | SLC12A3 | c.2921T>A (p.Val974Asp) c.2918T>A (p.Val973Asp) c.2948T>A (p.Val983Asp) c.2945T>A (p.Val982Asp) n.352T>A | |
16 | g.56904459T>C | CA396002633 | SLC12A3 | c.2921T>C (p.Val974Ala) c.2918T>C (p.Val973Ala) c.2948T>C (p.Val983Ala) c.2945T>C (p.Val982Ala) n.352T>C | |
16 | g.56904459T>G | CA396002636 | SLC12A3 | c.2921T>G (p.Val974Gly) c.2918T>G (p.Val973Gly) c.2948T>G (p.Val983Gly) c.2945T>G (p.Val982Gly) n.352T>G | |
16 | g.56904460C>A | CA495613598 | SLC12A3 | c.2922C>A (p.Val974=) c.2919C>A (p.Val973=) c.2949C>A (p.Val983=) c.2946C>A (p.Val982=) n.353C>A | |
16 | g.56904460C= | CA2224365757 | SLC12A3 | c.2922C= (p.Val974=) c.2919C= (p.Val973=) c.2949C= (p.Val983=) c.2946C= (p.Val982=) n.353C= | |
16 | g.56904460C>G | CA8070148 | SLC12A3 | c.2922C>G (p.Val974=) c.2919C>G (p.Val973=) c.2949C>G (p.Val983=) c.2946C>G (p.Val982=) n.353C>G | dbSNP ExAC gnomAD v4 |
16 | g.56904460C>T | CA495613597 | SLC12A3 | c.2922C>T (p.Val974=) c.2919C>T (p.Val973=) c.2949C>T (p.Val983=) c.2946C>T (p.Val982=) n.353C>T | |
16 | g.56904461A= | CA2224365758 | SLC12A3 | c.2923A= (p.Ile975=) c.2920A= (p.Ile974=) c.2950A= (p.Ile984=) c.2947A= (p.Ile983=) n.354A= | |
16 | g.56904461A>C | CA396002646 | SLC12A3 | c.2923A>C (p.Ile975Leu) c.2920A>C (p.Ile974Leu) c.2950A>C (p.Ile984Leu) c.2947A>C (p.Ile983Leu) n.354A>C | |
16 | g.56904461A>G | CA396002644 | SLC12A3 | c.2923A>G (p.Ile975Val) c.2920A>G (p.Ile974Val) c.2950A>G (p.Ile984Val) c.2947A>G (p.Ile983Val) n.354A>G | dbSNP gnomAD v4 |
16 | g.56904461A>T | CA396002647 | SLC12A3 | c.2923A>T (p.Ile975Phe) c.2920A>T (p.Ile974Phe) c.2950A>T (p.Ile984Phe) c.2947A>T (p.Ile983Phe) n.354A>T | gnomAD v4 |
16 | g.56904462T>A | CA396002649 | SLC12A3 | c.2924T>A (p.Ile975Asn) c.2921T>A (p.Ile974Asn) c.2951T>A (p.Ile984Asn) c.2948T>A (p.Ile983Asn) n.355T>A | |
16 | g.56904462T>C | CA396002666 | SLC12A3 | c.2924T>C (p.Ile975Thr) c.2921T>C (p.Ile974Thr) c.2951T>C (p.Ile984Thr) c.2948T>C (p.Ile983Thr) n.355T>C | |
16 | g.56904462T>G | CA396002670 | SLC12A3 | c.2924T>G (p.Ile975Ser) c.2921T>G (p.Ile974Ser) c.2951T>G (p.Ile984Ser) c.2948T>G (p.Ile983Ser) n.355T>G | gnomAD v4 |
16 | g.56904463G>A | CA396002674 | SLC12A3 | c.2924+1G>A (n.2924+1G>A) c.2921+1G>A (n.2921+1G>A) c.2951+1G>A (n.2951+1G>A) c.2948+1G>A (n.2948+1G>A) n.356G>A | ClinVar dbSNP |
16 | g.56904463G>C | CA396002677 | SLC12A3 | c.2924+1G>C (n.2924+1G>C) c.2921+1G>C (n.2921+1G>C) c.2951+1G>C (n.2951+1G>C) c.2948+1G>C (n.2948+1G>C) n.356G>C | |
16 | g.56904463G>T | CA396002685 | SLC12A3 | c.2924+1G>T (n.2924+1G>T) c.2921+1G>T (n.2921+1G>T) c.2951+1G>T (n.2951+1G>T) c.2948+1G>T (n.2948+1G>T) n.356G>T | |
16 | g.56904464T>A | CA396002693 | SLC12A3 | c.2924+2T>A (n.2924+2T>A) c.2921+2T>A (n.2921+2T>A) c.2951+2T>A (n.2951+2T>A) c.2948+2T>A (n.2948+2T>A) n.357T>A | |
16 | g.56904464T>C | CA396002699 | SLC12A3 | c.2924+2T>C (n.2924+2T>C) c.2921+2T>C (n.2921+2T>C) c.2951+2T>C (n.2951+2T>C) c.2948+2T>C (n.2948+2T>C) n.357T>C | |
16 | g.56904464T>G | CA396002702 | SLC12A3 | c.2924+2T>G (n.2924+2T>G) c.2921+2T>G (n.2921+2T>G) c.2951+2T>G (n.2951+2T>G) c.2948+2T>G (n.2948+2T>G) n.357T>G | gnomAD v4 |
16 | g.56904465A= | CA2224365759 | SLC12A3 | c.2924+3A= (n.2924+3A=) c.2921+3A= (n.2921+3A=) c.2951+3A= (n.2951+3A=) c.2948+3A= (n.2948+3A=) n.358A= | |
16 | g.56904465A>C | CA622342565 | SLC12A3 | c.2924+3A>C (n.2924+3A>C) c.2921+3A>C (n.2921+3A>C) c.2951+3A>C (n.2951+3A>C) c.2948+3A>C (n.2948+3A>C) n.358A>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904466A= | CA2224365760 | SLC12A3 | c.2924+4A= (n.2924+4A=) c.2921+4A= (n.2921+4A=) c.2951+4A= (n.2951+4A=) c.2948+4A= (n.2948+4A=) n.359A= | |
16 | g.56904466A>G | CA2843111740 | SLC12A3 | c.2924+4A>G (n.2924+4A>G) c.2921+4A>G (n.2921+4A>G) c.2951+4A>G (n.2951+4A>G) c.2948+4A>G (n.2948+4A>G) n.359A>G | |
16 | g.56904466A>T | CA622342566 | SLC12A3 | c.2924+4A>T (n.2924+4A>T) c.2921+4A>T (n.2921+4A>T) c.2951+4A>T (n.2951+4A>T) c.2948+4A>T (n.2948+4A>T) n.359A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904469_56904471del | CA2576002407 | SLC12A3 | c.2924+7_2924+9del (n.2924+7_2924+9del) c.2921+7_2921+9del (n.2921+7_2921+9del) c.2951+7_2951+9del (n.2951+7_2951+9del) c.2948+7_2948+9del (n.2948+7_2948+9del) n.362_364del | ClinVar gnomAD v4 |
16 | g.56904467G>A | CA977656561 | SLC12A3 | c.2924+5G>A (n.2924+5G>A) c.2921+5G>A (n.2921+5G>A) c.2951+5G>A (n.2951+5G>A) c.2948+5G>A (n.2948+5G>A) n.360G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904467G= | CA2224365761 | SLC12A3 | c.2924+5G= (n.2924+5G=) c.2921+5G= (n.2921+5G=) c.2951+5G= (n.2951+5G=) c.2948+5G= (n.2948+5G=) n.360G= | |
16 | g.56904467G>T | CA2839910387 | SLC12A3 | c.2924+5G>T (n.2924+5G>T) c.2921+5G>T (n.2921+5G>T) c.2951+5G>T (n.2951+5G>T) c.2948+5G>T (n.2948+5G>T) n.360G>T | |
16 | g.56904468T>C | CA495613602 | SLC12A3 | c.2924+6T>C (n.2924+6T>C) c.2921+6T>C (n.2921+6T>C) c.2951+6T>C (n.2951+6T>C) c.2948+6T>C (n.2948+6T>C) n.361T>C | |
16 | g.56904468_56904542dup | CA2633380934 | SLC12A3 | c.2924+6_2924+80dup (n.2924+6_2924+80dup) c.2921+6_2921+80dup (n.2921+6_2921+80dup) c.2951+6_2951+80dup (n.2951+6_2951+80dup) c.2948+6_2948+80dup (n.2948+6_2948+80dup) n.361_435dup | gnomAD v4 |
16 | g.56904469A= | CA2224365762 | SLC12A3 | c.2924+7A= (n.2924+7A=) c.2921+7A= (n.2921+7A=) c.2951+7A= (n.2951+7A=) c.2948+7A= (n.2948+7A=) n.362A= | |
16 | g.56904469A>T | CA2224365763 | SLC12A3 | c.2924+7A>T (n.2924+7A>T) c.2921+7A>T (n.2921+7A>T) c.2951+7A>T (n.2951+7A>T) c.2948+7A>T (n.2948+7A>T) n.362A>T | dbSNP |
16 | g.56904470G>A | CA2633380938 | SLC12A3 | c.2924+8G>A (n.2924+8G>A) c.2921+8G>A (n.2921+8G>A) c.2951+8G>A (n.2951+8G>A) c.2948+8G>A (n.2948+8G>A) n.363G>A | ClinVar gnomAD v4 |
16 | g.56904471T>A | CA2580091679 | SLC12A3 | c.2924+9T>A (n.2924+9T>A) c.2921+9T>A (n.2921+9T>A) c.2951+9T>A (n.2951+9T>A) c.2948+9T>A (n.2948+9T>A) n.364T>A | ClinVar gnomAD v4 |
16 | g.56904471T>C | CA622342567 | SLC12A3 | c.2924+9T>C (n.2924+9T>C) c.2921+9T>C (n.2921+9T>C) c.2951+9T>C (n.2951+9T>C) c.2948+9T>C (n.2948+9T>C) n.364T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904471T= | CA2224365764 | SLC12A3 | c.2924+9T= (n.2924+9T=) c.2921+9T= (n.2921+9T=) c.2951+9T= (n.2951+9T=) c.2948+9T= (n.2948+9T=) n.364T= | |
16 | g.56904471dup | CA2633380950 | SLC12A3 | c.2924+9dup (n.2924+9dup) c.2921+9dup (n.2921+9dup) c.2951+9dup (n.2951+9dup) c.2948+9dup (n.2948+9dup) n.364dup | gnomAD v4 |
16 | g.56904472G>A | CA2224365766 | SLC12A3 | c.2924+10G>A (n.2924+10G>A) c.2921+10G>A (n.2921+10G>A) c.2951+10G>A (n.2951+10G>A) c.2948+10G>A (n.2948+10G>A) n.365G>A | ClinVar dbSNP gnomAD v4 |
16 | g.56904472G= | CA2224365765 | SLC12A3 | c.2924+10G= (n.2924+10G=) c.2921+10G= (n.2921+10G=) c.2951+10G= (n.2951+10G=) c.2948+10G= (n.2948+10G=) n.365G= | |
16 | g.56904472G>T | CA8070149 | SLC12A3 | c.2924+10G>T (n.2924+10G>T) c.2921+10G>T (n.2921+10G>T) c.2951+10G>T (n.2951+10G>T) c.2948+10G>T (n.2948+10G>T) n.365G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56904473C>A | CA2576002408 | SLC12A3 | c.2924+11C>A (n.2924+11C>A) c.2921+11C>A (n.2921+11C>A) c.2951+11C>A (n.2951+11C>A) c.2948+11C>A (n.2948+11C>A) n.366C>A | gnomAD v4 |
16 | g.56904473C>T | CA2633380955 | SLC12A3 | c.2924+11C>T (n.2924+11C>T) c.2921+11C>T (n.2921+11C>T) c.2951+11C>T (n.2951+11C>T) c.2948+11C>T (n.2948+11C>T) n.366C>T | gnomAD v4 |
16 | g.56904475C>A | CA2224365768 | SLC12A3 | c.2924+13C>A (n.2924+13C>A) c.2921+13C>A (n.2921+13C>A) c.2951+13C>A (n.2951+13C>A) c.2948+13C>A (n.2948+13C>A) n.368C>A | dbSNP |
16 | g.56904475C= | CA2224365767 | SLC12A3 | c.2924+13C= (n.2924+13C=) c.2921+13C= (n.2921+13C=) c.2951+13C= (n.2951+13C=) c.2948+13C= (n.2948+13C=) n.368C= | |
16 | g.56904475C>G | CA2581266928 | SLC12A3 | c.2924+13C>G (n.2924+13C>G) c.2921+13C>G (n.2921+13C>G) c.2951+13C>G (n.2951+13C>G) c.2948+13C>G (n.2948+13C>G) n.368C>G | |
16 | g.56904475C>T | CA8070150 | SLC12A3 | c.2924+13C>T (n.2924+13C>T) c.2921+13C>T (n.2921+13C>T) c.2951+13C>T (n.2951+13C>T) c.2948+13C>T (n.2948+13C>T) n.368C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904475_56904476insT | CA2839910388 | SLC12A3 | c.2924+13_2924+14insT (n.2924+13_2924+14insT) c.2921+13_2921+14insT (n.2921+13_2921+14insT) c.2951+13_2951+14insT (n.2951+13_2951+14insT) c.2948+13_2948+14insT (n.2948+13_2948+14insT) n.368_369insT | |
16 | g.56904476G>A | CA8070151 | SLC12A3 | c.2924+14G>A (n.2924+14G>A) c.2921+14G>A (n.2921+14G>A) c.2951+14G>A (n.2951+14G>A) c.2948+14G>A (n.2948+14G>A) n.369G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904476G>C | CA2633380963 | SLC12A3 | c.2924+14G>C (n.2924+14G>C) c.2921+14G>C (n.2921+14G>C) c.2951+14G>C (n.2951+14G>C) c.2948+14G>C (n.2948+14G>C) n.369G>C | gnomAD v4 |
16 | g.56904476G= | CA2224365769 | SLC12A3 | c.2924+14G= (n.2924+14G=) c.2921+14G= (n.2921+14G=) c.2951+14G= (n.2951+14G=) c.2948+14G= (n.2948+14G=) n.369G= | |
16 | g.56904477G>C | CA622342569 | SLC12A3 | c.2924+15G>C (n.2924+15G>C) c.2921+15G>C (n.2921+15G>C) c.2951+15G>C (n.2951+15G>C) c.2948+15G>C (n.2948+15G>C) n.370G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904477G= | CA2224365770 | SLC12A3 | c.2924+15G= (n.2924+15G=) c.2921+15G= (n.2921+15G=) c.2951+15G= (n.2951+15G=) c.2948+15G= (n.2948+15G=) n.370G= | |
16 | g.56904478C>A | CA2633380970 | SLC12A3 | c.2924+16C>A (n.2924+16C>A) c.2921+16C>A (n.2921+16C>A) c.2951+16C>A (n.2951+16C>A) c.2948+16C>A (n.2948+16C>A) n.371C>A | gnomAD v4 |
16 | g.56904478C>G | CA2633380973 | SLC12A3 | c.2924+16C>G (n.2924+16C>G) c.2921+16C>G (n.2921+16C>G) c.2951+16C>G (n.2951+16C>G) c.2948+16C>G (n.2948+16C>G) n.371C>G | gnomAD v4 |
16 | g.56904478C>T | CA2633380975 | SLC12A3 | c.2924+16C>T (n.2924+16C>T) c.2921+16C>T (n.2921+16C>T) c.2951+16C>T (n.2951+16C>T) c.2948+16C>T (n.2948+16C>T) n.371C>T | gnomAD v4 |
16 | g.56904479T>C | CA2838351126 | SLC12A3 | c.2924+17T>C (n.2924+17T>C) c.2921+17T>C (n.2921+17T>C) c.2951+17T>C (n.2951+17T>C) c.2948+17T>C (n.2948+17T>C) n.372T>C | |
16 | g.56904480G>A | CA2541995748 | SLC12A3 | c.2924+18G>A (n.2924+18G>A) c.2921+18G>A (n.2921+18G>A) c.2951+18G>A (n.2951+18G>A) c.2948+18G>A (n.2948+18G>A) n.373G>A | gnomAD v4 |
16 | g.56904482T>C | CA2633380985 | SLC12A3 | c.2924+20T>C (n.2924+20T>C) c.2921+20T>C (n.2921+20T>C) c.2951+20T>C (n.2951+20T>C) c.2948+20T>C (n.2948+20T>C) n.375T>C | gnomAD v4 |
16 | g.56904482T>G | CA2224365772 | SLC12A3 | c.2924+20T>G (n.2924+20T>G) c.2921+20T>G (n.2921+20T>G) c.2951+20T>G (n.2951+20T>G) c.2948+20T>G (n.2948+20T>G) n.375T>G | dbSNP |
16 | g.56904482T= | CA2224365771 | SLC12A3 | c.2924+20T= (n.2924+20T=) c.2921+20T= (n.2921+20T=) c.2951+20T= (n.2951+20T=) c.2948+20T= (n.2948+20T=) n.375T= | |
16 | g.56904483G>A | CA622342570 | SLC12A3 | c.2924+21G>A (n.2924+21G>A) c.2921+21G>A (n.2921+21G>A) c.2951+21G>A (n.2951+21G>A) c.2948+21G>A (n.2948+21G>A) n.376G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904483G= | CA2224365773 | SLC12A3 | c.2924+21G= (n.2924+21G=) c.2921+21G= (n.2921+21G=) c.2951+21G= (n.2951+21G=) c.2948+21G= (n.2948+21G=) n.376G= | |
16 | g.56904484G>A | CA622342571 | SLC12A3 | c.2924+22G>A (n.2924+22G>A) c.2921+22G>A (n.2921+22G>A) c.2951+22G>A (n.2951+22G>A) c.2948+22G>A (n.2948+22G>A) n.377G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904484G= | CA2224365774 | SLC12A3 | c.2924+22G= (n.2924+22G=) c.2921+22G= (n.2921+22G=) c.2951+22G= (n.2951+22G=) c.2948+22G= (n.2948+22G=) n.377G= | |
16 | g.56904484G>T | CA2843111741 | SLC12A3 | c.2924+22G>T (n.2924+22G>T) c.2921+22G>T (n.2921+22G>T) c.2951+22G>T (n.2951+22G>T) c.2948+22G>T (n.2948+22G>T) n.377G>T | |
16 | g.56904485G>T | CA2633380991 | SLC12A3 | c.2924+23G>T (n.2924+23G>T) c.2921+23G>T (n.2921+23G>T) c.2951+23G>T (n.2951+23G>T) c.2948+23G>T (n.2948+23G>T) n.378G>T | gnomAD v4 |
16 | g.56904487G>A | CA2633380995 | SLC12A3 | c.2924+25G>A (n.2924+25G>A) c.2921+25G>A (n.2921+25G>A) c.2951+25G>A (n.2951+25G>A) c.2948+25G>A (n.2948+25G>A) n.380G>A | gnomAD v4 |
16 | g.56904487G>C | CA281521382 | SLC12A3 | c.2924+25G>C (n.2924+25G>C) c.2921+25G>C (n.2921+25G>C) c.2951+25G>C (n.2951+25G>C) c.2948+25G>C (n.2948+25G>C) n.380G>C | dbSNP |
16 | g.56904487G= | CA2224365775 | SLC12A3 | c.2924+25G= (n.2924+25G=) c.2921+25G= (n.2921+25G=) c.2951+25G= (n.2951+25G=) c.2948+25G= (n.2948+25G=) n.380G= | |
16 | g.56904488G>A | CA2633380998 | SLC12A3 | c.2924+26G>A (n.2924+26G>A) c.2921+26G>A (n.2921+26G>A) c.2951+26G>A (n.2951+26G>A) c.2948+26G>A (n.2948+26G>A) n.381G>A | gnomAD v4 |
16 | g.56904488G>C | CA721950852 | SLC12A3 | c.2924+26G>C (n.2924+26G>C) c.2921+26G>C (n.2921+26G>C) c.2951+26G>C (n.2951+26G>C) c.2948+26G>C (n.2948+26G>C) n.381G>C | dbSNP gnomAD v4 |
16 | g.56904488G= | CA2224365776 | SLC12A3 | c.2924+26G= (n.2924+26G=) c.2921+26G= (n.2921+26G=) c.2951+26G= (n.2951+26G=) c.2948+26G= (n.2948+26G=) n.381G= | |
16 | g.56904488G>T | CA2633381001 | SLC12A3 | c.2924+26G>T (n.2924+26G>T) c.2921+26G>T (n.2921+26G>T) c.2951+26G>T (n.2951+26G>T) c.2948+26G>T (n.2948+26G>T) n.381G>T | gnomAD v4 |
16 | g.56904489A= | CA2224365777 | SLC12A3 | c.2924+27A= (n.2924+27A=) c.2921+27A= (n.2921+27A=) c.2951+27A= (n.2951+27A=) c.2948+27A= (n.2948+27A=) n.382A= | |
16 | g.56904489A>C | CA721950857 | SLC12A3 | c.2924+27A>C (n.2924+27A>C) c.2921+27A>C (n.2921+27A>C) c.2951+27A>C (n.2951+27A>C) c.2948+27A>C (n.2948+27A>C) n.382A>C | dbSNP |
16 | g.56904490C>A | CA2633381005 | SLC12A3 | c.2924+28C>A (n.2924+28C>A) c.2921+28C>A (n.2921+28C>A) c.2951+28C>A (n.2951+28C>A) c.2948+28C>A (n.2948+28C>A) n.383C>A | gnomAD v4 |
16 | g.56904491del | CA2633381004 | SLC12A3 | c.2924+29del (n.2924+29del) c.2921+29del (n.2921+29del) c.2951+29del (n.2951+29del) c.2948+29del (n.2948+29del) n.384del | gnomAD v4 |
16 | g.56904491C>A | CA2633381008 | SLC12A3 | c.2924+29C>A (n.2924+29C>A) c.2921+29C>A (n.2921+29C>A) c.2951+29C>A (n.2951+29C>A) c.2948+29C>A (n.2948+29C>A) n.384C>A | gnomAD v4 |
16 | g.56904491C>T | CA2633381009 | SLC12A3 | c.2924+29C>T (n.2924+29C>T) c.2921+29C>T (n.2921+29C>T) c.2951+29C>T (n.2951+29C>T) c.2948+29C>T (n.2948+29C>T) n.384C>T | gnomAD v4 |
16 | g.56904493G>T | CA2839082991 | SLC12A3 | c.2924+31G>T (n.2924+31G>T) c.2921+31G>T (n.2921+31G>T) c.2951+31G>T (n.2951+31G>T) c.2948+31G>T (n.2948+31G>T) n.386G>T | |
16 | g.56904494T>C | CA281521384 | SLC12A3 | c.2924+32T>C (n.2924+32T>C) c.2921+32T>C (n.2921+32T>C) c.2951+32T>C (n.2951+32T>C) c.2948+32T>C (n.2948+32T>C) n.387T>C | dbSNP gnomAD v4 |
16 | g.56904494T= | CA2224365778 | SLC12A3 | c.2924+32T= (n.2924+32T=) c.2921+32T= (n.2921+32T=) c.2951+32T= (n.2951+32T=) c.2948+32T= (n.2948+32T=) n.387T= | |
16 | g.56904495C>A | CA2576002409 | SLC12A3 | c.2924+33C>A (n.2924+33C>A) c.2921+33C>A (n.2921+33C>A) c.2951+33C>A (n.2951+33C>A) c.2948+33C>A (n.2948+33C>A) n.388C>A | gnomAD v4 |
16 | g.56904497G>A | CA2576002410 | SLC12A3 | c.2924+35G>A (n.2924+35G>A) c.2921+35G>A (n.2921+35G>A) c.2951+35G>A (n.2951+35G>A) c.2948+35G>A (n.2948+35G>A) n.390G>A | |
16 | g.56904498T>A | CA2838351124 | SLC12A3 | c.2924+36T>A (n.2924+36T>A) c.2921+36T>A (n.2921+36T>A) c.2951+36T>A (n.2951+36T>A) c.2948+36T>A (n.2948+36T>A) n.391T>A | |
16 | g.56904498T>C | CA2843111742 | SLC12A3 | c.2924+36T>C (n.2924+36T>C) c.2921+36T>C (n.2921+36T>C) c.2951+36T>C (n.2951+36T>C) c.2948+36T>C (n.2948+36T>C) n.391T>C | |
16 | g.56904499C>A | CA2633381015 | SLC12A3 | c.2924+37C>A (n.2924+37C>A) c.2921+37C>A (n.2921+37C>A) c.2951+37C>A (n.2951+37C>A) c.2948+37C>A (n.2948+37C>A) n.392C>A | gnomAD v4 |
16 | g.56904500del | CA2633381014 | SLC12A3 | c.2924+38del (n.2924+38del) c.2921+38del (n.2921+38del) c.2951+38del (n.2951+38del) c.2948+38del (n.2948+38del) n.393del | gnomAD v4 |
16 | g.56904500C>A | CA2576002411 | SLC12A3 | c.2924+38C>A (n.2924+38C>A) c.2921+38C>A (n.2921+38C>A) c.2951+38C>A (n.2951+38C>A) c.2948+38C>A (n.2948+38C>A) n.393C>A | gnomAD v4 |
16 | g.56904500C= | CA2224365779 | SLC12A3 | c.2924+38C= (n.2924+38C=) c.2921+38C= (n.2921+38C=) c.2951+38C= (n.2951+38C=) c.2948+38C= (n.2948+38C=) n.393C= | |
16 | g.56904500C>T | CA622342572 | SLC12A3 | c.2924+38C>T (n.2924+38C>T) c.2921+38C>T (n.2921+38C>T) c.2951+38C>T (n.2951+38C>T) c.2948+38C>T (n.2948+38C>T) n.393C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904501A>G | CA2633381024 | SLC12A3 | c.2924+39A>G (n.2924+39A>G) c.2921+39A>G (n.2921+39A>G) c.2951+39A>G (n.2951+39A>G) c.2948+39A>G (n.2948+39A>G) n.394A>G | gnomAD v4 |
16 | g.56904502G>A | CA721950865 | SLC12A3 | c.2924+40G>A (n.2924+40G>A) c.2921+40G>A (n.2921+40G>A) c.2951+40G>A (n.2951+40G>A) c.2948+40G>A (n.2948+40G>A) n.395G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56904502G>C | CA2633381025 | SLC12A3 | c.2924+40G>C (n.2924+40G>C) c.2921+40G>C (n.2921+40G>C) c.2951+40G>C (n.2951+40G>C) c.2948+40G>C (n.2948+40G>C) n.395G>C | gnomAD v4 |
16 | g.56904502G= | CA2224365780 | SLC12A3 | c.2924+40G= (n.2924+40G=) c.2921+40G= (n.2921+40G=) c.2951+40G= (n.2951+40G=) c.2948+40G= (n.2948+40G=) n.395G= | |
16 | g.56904503A= | CA2224365781 | SLC12A3 | c.2924+41A= (n.2924+41A=) c.2921+41A= (n.2921+41A=) c.2951+41A= (n.2951+41A=) c.2948+41A= (n.2948+41A=) n.396A= | |
16 | g.56904503A>T | CA8070152 | SLC12A3 | c.2924+41A>T (n.2924+41A>T) c.2921+41A>T (n.2921+41A>T) c.2951+41A>T (n.2951+41A>T) c.2948+41A>T (n.2948+41A>T) n.396A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56904504G>A | CA2633381033 | SLC12A3 | c.2924+42G>A (n.2924+42G>A) c.2921+42G>A (n.2921+42G>A) c.2951+42G>A (n.2951+42G>A) c.2948+42G>A (n.2948+42G>A) n.397G>A | gnomAD v4 |
16 | g.56904504G>C | CA2633381034 | SLC12A3 | c.2924+42G>C (n.2924+42G>C) c.2921+42G>C (n.2921+42G>C) c.2951+42G>C (n.2951+42G>C) c.2948+42G>C (n.2948+42G>C) n.397G>C | gnomAD v4 |
16 | g.56904506C>A | CA2633381038 | SLC12A3 | c.2924+44C>A (n.2924+44C>A) c.2921+44C>A (n.2921+44C>A) c.2951+44C>A (n.2951+44C>A) c.2948+44C>A (n.2948+44C>A) n.399C>A | gnomAD v4 |
16 | g.56904507A= | CA2224365783 | SLC12A3 | c.2924+45A= (n.2924+45A=) c.2921+45A= (n.2921+45A=) c.2951+45A= (n.2951+45A=) c.2948+45A= (n.2948+45A=) n.400A= | |
16 | g.56904507A>G | CA622342574 | SLC12A3 | c.2924+45A>G (n.2924+45A>G) c.2921+45A>G (n.2921+45A>G) c.2951+45A>G (n.2951+45A>G) c.2948+45A>G (n.2948+45A>G) n.400A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56904507_56904508delinsAG | CA2224365782 | SLC12A3 | c.2924+45_2924+46delinsAG (n.2924+45_2924+46delinsAG) c.2921+45_2921+46delinsAG (n.2921+45_2921+46delinsAG) c.2951+45_2951+46delinsAG (n.2951+45_2951+46delinsAG) c.2948+45_2948+46delinsAG (n.2948+45_2948+46delinsAG) n.400_401delinsAG | |
16 | g.56904508G>A | CA2224365785 | SLC12A3 | c.2924+46G>A (n.2924+46G>A) c.2921+46G>A (n.2921+46G>A) c.2951+46G>A (n.2951+46G>A) c.2948+46G>A (n.2948+46G>A) n.401G>A | dbSNP gnomAD v4 |
16 | g.56904508G= | CA2224365784 | SLC12A3 | c.2924+46G= (n.2924+46G=) c.2921+46G= (n.2921+46G=) c.2951+46G= (n.2951+46G=) c.2948+46G= (n.2948+46G=) n.401G= | |
16 | g.56904508G>T | CA2633381045 | SLC12A3 | c.2924+46G>T (n.2924+46G>T) c.2921+46G>T (n.2921+46G>T) c.2951+46G>T (n.2951+46G>T) c.2948+46G>T (n.2948+46G>T) n.401G>T | gnomAD v4 |
16 | g.56904509del | CA919713959 | SLC12A3 | c.2924+47del (n.2924+47del) c.2921+47del (n.2921+47del) c.2951+47del (n.2951+47del) c.2948+47del (n.2948+47del) n.402del | dbSNP |
16 | g.56904510T>A | CA2843111743 | SLC12A3 | c.2924+48T>A (n.2924+48T>A) c.2921+48T>A (n.2921+48T>A) c.2951+48T>A (n.2951+48T>A) c.2948+48T>A (n.2948+48T>A) n.403T>A | |
16 | g.56904511G>A | CA2224365787 | SLC12A3 | c.2924+49G>A (n.2924+49G>A) c.2921+49G>A (n.2921+49G>A) c.2951+49G>A (n.2951+49G>A) c.2948+49G>A (n.2948+49G>A) n.404G>A | dbSNP |
16 | g.56904511G>C | CA2224365788 | SLC12A3 | c.2924+49G>C (n.2924+49G>C) c.2921+49G>C (n.2921+49G>C) c.2951+49G>C (n.2951+49G>C) c.2948+49G>C (n.2948+49G>C) n.404G>C | dbSNP gnomAD v4 |
16 | g.56904511G= | CA2224365786 | SLC12A3 | c.2924+49G= (n.2924+49G=) c.2921+49G= (n.2921+49G=) c.2951+49G= (n.2951+49G=) c.2948+49G= (n.2948+49G=) n.404G= | |
16 | g.56904511G>T | CA2839082997 | SLC12A3 | c.2924+49G>T (n.2924+49G>T) c.2921+49G>T (n.2921+49G>T) c.2951+49G>T (n.2951+49G>T) c.2948+49G>T (n.2948+49G>T) n.404G>T | |
16 | g.56904512T>A | CA2633381051 | SLC12A3 | c.2924+50T>A (n.2924+50T>A) c.2921+50T>A (n.2921+50T>A) c.2951+50T>A (n.2951+50T>A) c.2948+50T>A (n.2948+50T>A) n.405T>A | gnomAD v4 |
16 | g.56904513C>A | CA2633381052 | SLC12A3 | c.2924+51C>A (n.2924+51C>A) c.2921+51C>A (n.2921+51C>A) c.2951+51C>A (n.2951+51C>A) c.2948+51C>A (n.2948+51C>A) n.406C>A | gnomAD v4 |
16 | g.56904513C>G | CA2633381053 | SLC12A3 | c.2924+51C>G (n.2924+51C>G) c.2921+51C>G (n.2921+51C>G) c.2951+51C>G (n.2951+51C>G) c.2948+51C>G (n.2948+51C>G) n.406C>G | gnomAD v4 |
16 | g.56904513C>T | CA2633381054 | SLC12A3 | c.2924+51C>T (n.2924+51C>T) c.2921+51C>T (n.2921+51C>T) c.2951+51C>T (n.2951+51C>T) c.2948+51C>T (n.2948+51C>T) n.406C>T | gnomAD v4 |