Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56869813A>C | CA395981205 | SLC12A3 | c.590A>C (p.Lys197Thr) c.587A>C (p.Lys196Thr) | |
16 | g.56869813A>G | CA395981208 | SLC12A3 | c.590A>G (p.Lys197Arg) c.587A>G (p.Lys196Arg) | |
16 | g.56869813A>T | CA395981203 | SLC12A3 | c.590A>T (p.Lys197Met) c.587A>T (p.Lys196Met) | |
16 | g.56869814G>A | CA495602947 | SLC12A3 | c.591G>A (p.Lys197=) c.588G>A (p.Lys196=) | |
16 | g.56869814G>C | CA395981211 | SLC12A3 | c.591G>C (p.Lys197Asn) c.588G>C (p.Lys196Asn) | |
16 | g.56869814G= | CA2224349113 | SLC12A3 | c.591G= (p.Lys197=) c.588G= (p.Lys196=) | |
16 | g.56869814G>T | CA395981214 | SLC12A3 | c.591G>T (p.Lys197Asn) c.588G>T (p.Lys196Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56869815G>A | CA8069104 | SLC12A3 | c.592G>A (p.Val198Ile) c.589G>A (p.Val197Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869815G>C | CA395981218 | SLC12A3 | c.592G>C (p.Val198Leu) c.589G>C (p.Val197Leu) | |
16 | g.56869815G= | CA2224349114 | SLC12A3 | c.592G= (p.Val198=) c.589G= (p.Val197=) | |
16 | g.56869815G>T | CA395981219 | SLC12A3 | c.592G>T (p.Val198Phe) c.589G>T (p.Val197Phe) | gnomAD v4 |
16 | g.56869816T>A | CA395981220 | SLC12A3 | c.593T>A (p.Val198Asp) c.590T>A (p.Val197Asp) | |
16 | g.56869816T>C | CA395981221 | SLC12A3 | c.593T>C (p.Val198Ala) c.590T>C (p.Val197Ala) | |
16 | g.56869816T>G | CA395981223 | SLC12A3 | c.593T>G (p.Val198Gly) c.590T>G (p.Val197Gly) | |
16 | g.56869817C>A | CA495602950 | SLC12A3 | c.594C>A (p.Val198=) c.591C>A (p.Val197=) | |
16 | g.56869817C>G | CA495602949 | SLC12A3 | c.594C>G (p.Val198=) c.591C>G (p.Val197=) | |
16 | g.56869817C>T | CA495602948 | SLC12A3 | c.594C>T (p.Val198=) c.591C>T (p.Val197=) | |
16 | g.56869817_56869819delinsCAA | CA2224349115 | SLC12A3 | c.594_596delinsCAA (p.Val198=) c.591_593delinsCAA (p.Val197=) | |
16 | g.56869818A>C | CA395981227 | SLC12A3 | c.595A>C (p.Lys199Gln) c.592A>C (p.Lys198Gln) | gnomAD v4 |
16 | g.56869818A>G | CA395981230 | SLC12A3 | c.595A>G (p.Lys199Glu) c.592A>G (p.Lys198Glu) | |
16 | g.56869818A>T | CA395981232 | SLC12A3 | c.595A>T (p.Lys199Ter) c.592A>T (p.Lys198Ter) | |
16 | g.56869818_56869819del | CA977637953 | SLC12A3 | c.595_596del (p.Lys199ValfsTer?) c.592_593del (p.Lys198ValfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869819del | CA2633370362 | SLC12A3 | c.596del (p.Lys199SerfsTer?) c.593del (p.Lys198SerfsTer?) | gnomAD v4 |
16 | g.56869819A= | CA2224349116 | SLC12A3 | c.596A= (p.Lys199=) c.593A= (p.Lys198=) | |
16 | g.56869819A>C | CA395981234 | SLC12A3 | c.596A>C (p.Lys199Thr) c.593A>C (p.Lys198Thr) | |
16 | g.56869819A>G | CA8069105 | SLC12A3 | c.596A>G (p.Lys199Arg) c.593A>G (p.Lys198Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869819A>T | CA395981235 | SLC12A3 | c.596A>T (p.Lys199Met) c.593A>T (p.Lys198Met) | |
16 | g.56869820G>A | CA495602951 | SLC12A3 | c.597G>A (p.Lys199=) c.594G>A (p.Lys198=) | gnomAD v4 |
16 | g.56869820G>C | CA395981238 | SLC12A3 | c.597G>C (p.Lys199Asn) c.594G>C (p.Lys198Asn) | |
16 | g.56869820G>T | CA395981243 | SLC12A3 | c.597G>T (p.Lys199Asn) c.594G>T (p.Lys198Asn) | |
16 | g.56869821_56869829del | CA645573538 | SLC12A3 | c.598_601+5del c.595_598+5del | COSMIC |
16 | g.56869821T>A | CA395981247 | SLC12A3 | c.598T>A (p.Ser200Thr) c.595T>A (p.Ser199Thr) | |
16 | g.56869821T>C | CA395981250 | SLC12A3 | c.598T>C (p.Ser200Pro) c.595T>C (p.Ser199Pro) | |
16 | g.56869821T>G | CA395981253 | SLC12A3 | c.598T>G (p.Ser200Ala) c.595T>G (p.Ser199Ala) | |
16 | g.56869822C>A | CA395981256 | SLC12A3 | c.599C>A (p.Ser200Ter) c.596C>A (p.Ser199Ter) | |
16 | g.56869822C>G | CA395981268 | SLC12A3 | c.599C>G (p.Ser200Ter) c.596C>G (p.Ser199Ter) | |
16 | g.56869822C>T | CA395981270 | SLC12A3 | c.599C>T (p.Ser200Leu) c.596C>T (p.Ser199Leu) | |
16 | g.56869823A= | CA2224349117 | SLC12A3 | c.600A= (p.Ser200=) c.597A= (p.Ser199=) | |
16 | g.56869823A>C | CA495602952 | SLC12A3 | c.600A>C (p.Ser200=) c.597A>C (p.Ser199=) | |
16 | g.56869823A>G | CA8069106 | SLC12A3 | c.600A>G (p.Ser200=) c.597A>G (p.Ser199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869823A>T | CA495602953 | SLC12A3 | c.600A>T (p.Ser200=) c.597A>T (p.Ser199=) | |
16 | g.56869824G>A | CA395981282 | SLC12A3 | c.601G>A (p.Gly201Ser) c.598G>A (p.Gly200Ser) | |
16 | g.56869824G>C | CA395981284 | SLC12A3 | c.601G>C (p.Gly201Arg) c.598G>C (p.Gly200Arg) | |
16 | g.56869824G>T | CA395981289 | SLC12A3 | c.601G>T (p.Gly201Cys) c.598G>T (p.Gly200Cys) | |
16 | g.56869825G>A | CA395981294 | SLC12A3 | c.601+1G>A (n.601+1G>A) c.598+1G>A (n.598+1G>A) | |
16 | g.56869825G>C | CA395981298 | SLC12A3 | c.601+1G>C (n.601+1G>C) c.598+1G>C (n.598+1G>C) | ClinVar |
16 | g.56869825G>T | CA395981299 | SLC12A3 | c.601+1G>T (n.601+1G>T) c.598+1G>T (n.598+1G>T) | |
16 | g.56869826T>A | CA395981310 | SLC12A3 | c.601+2T>A (n.601+2T>A) c.598+2T>A (n.598+2T>A) | gnomAD v4 |
16 | g.56869826T>C | CA395981307 | SLC12A3 | c.601+2T>C (n.601+2T>C) c.598+2T>C (n.598+2T>C) | |
16 | g.56869826T>G | CA395981303 | SLC12A3 | c.601+2T>G (n.601+2T>G) c.598+2T>G (n.598+2T>G) | |
16 | g.56869827G= | CA2224349118 | SLC12A3 | c.601+3G= (n.601+3G=) c.598+3G= (n.598+3G=) | |
16 | g.56869827G>T | CA8069107 | SLC12A3 | c.601+3G>T (n.601+3G>T) c.598+3G>T (n.598+3G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869828G>A | CA912996055 | SLC12A3 | c.601+4G>A (n.601+4G>A) c.598+4G>A (n.598+4G>A) | |
16 | g.56869828_56869829insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT | CA2633370381 | SLC12A3 | c.601+4_601+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT (n.601+4_601+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT) c.598+4_598+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT (n.598+4_598+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT) | gnomAD v4 |
16 | g.56869830C>A | CA2633370383 | SLC12A3 | c.601+6C>A (n.601+6C>A) c.598+6C>A (n.598+6C>A) | gnomAD v4 |
16 | g.56869830C>T | CA2633370385 | SLC12A3 | c.601+6C>T (n.601+6C>T) c.598+6C>T (n.598+6C>T) | gnomAD v4 |
16 | g.56869831_56869832insTTGGTGGAAAGGGGG | CA2633370390 | SLC12A3 | c.601+7_601+8insTTGGTGGAAAGGGGG (n.601+7_601+8insTTGGTGGAAAGGGGG) c.598+7_598+8insTTGGTGGAAAGGGGG (n.598+7_598+8insTTGGTGGAAAGGGGG) | gnomAD v4 |
16 | g.56869832A= | CA2224349119 | SLC12A3 | c.601+8A= (n.601+8A=) c.598+8A= (n.598+8A=) | |
16 | g.56869832A>G | CA722004783 | SLC12A3 | c.601+8A>G (n.601+8A>G) c.598+8A>G (n.598+8A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869832A>T | CA2573152448 | SLC12A3 | c.601+8A>T (n.601+8A>T) c.598+8A>T (n.598+8A>T) | ClinVar dbSNP gnomAD v4 |
16 | g.56869833T>C | CA2499223587 | SLC12A3 | c.601+9T>C (n.601+9T>C) c.598+9T>C (n.598+9T>C) | ClinVar dbSNP gnomAD v4 |
16 | g.56869838_56869900del | CA2633370394 | SLC12A3 | c.601+14_601+76del (n.601+14_601+76del) c.598+14_598+76del (n.598+14_598+76del) | gnomAD v4 |
16 | g.56869833_56869834insGG | CA2633370398 | SLC12A3 | c.601+9_601+10insGG (n.601+9_601+10insGG) c.598+9_598+10insGG (n.598+9_598+10insGG) | gnomAD v4 |
16 | g.56869834C= | CA2224349120 | SLC12A3 | c.601+10C= (n.601+10C=) c.598+10C= (n.598+10C=) | |
16 | g.56869834C>G | CA622333568 | SLC12A3 | c.601+10C>G (n.601+10C>G) c.598+10C>G (n.598+10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869834C>T | CA2807159803 | SLC12A3 | c.601+10C>T (n.601+10C>T) c.598+10C>T (n.598+10C>T) | |
16 | g.56869835C= | CA2224349121 | SLC12A3 | c.601+11C= (n.601+11C=) c.598+11C= (n.598+11C=) | |
16 | g.56869835C>T | CA622333569 | SLC12A3 | c.601+11C>T (n.601+11C>T) c.598+11C>T (n.598+11C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869836C= | CA2224349122 | SLC12A3 | c.601+12C= (n.601+12C=) c.598+12C= (n.598+12C=) | |
16 | g.56869836C>T | CA622333570 | SLC12A3 | c.601+12C>T (n.601+12C>T) c.598+12C>T (n.598+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869837C= | CA2224349123 | SLC12A3 | c.601+13C= (n.601+13C=) c.598+13C= (n.598+13C=) | |
16 | g.56869837C>G | CA2739266786 | SLC12A3 | c.601+13C>G (n.601+13C>G) c.598+13C>G (n.598+13C>G) | ClinVar |
16 | g.56869837C>T | CA2224349124 | SLC12A3 | c.601+13C>T (n.601+13C>T) c.598+13C>T (n.598+13C>T) | dbSNP gnomAD v4 |
16 | g.56869838C>A | CA2633370401 | SLC12A3 | c.601+14C>A (n.601+14C>A) c.598+14C>A (n.598+14C>A) | gnomAD v4 |
16 | g.56869838C= | CA2224349125 | SLC12A3 | c.601+14C= (n.601+14C=) c.598+14C= (n.598+14C=) | |
16 | g.56869838C>G | CA2633370404 | SLC12A3 | c.601+14C>G (n.601+14C>G) c.598+14C>G (n.598+14C>G) | gnomAD v4 |
16 | g.56869838C>T | CA622333571 | SLC12A3 | c.601+14C>T (n.601+14C>T) c.598+14C>T (n.598+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869841del | CA2633370406 | SLC12A3 | c.601+17del (n.601+17del) c.598+17del (n.598+17del) | gnomAD v4 |
16 | g.56869840T>G | CA2633370407 | SLC12A3 | c.601+16T>G (n.601+16T>G) c.598+16T>G (n.598+16T>G) | gnomAD v4 |
16 | g.56869841T>A | CA2633370409 | SLC12A3 | c.601+17T>A (n.601+17T>A) c.598+17T>A (n.598+17T>A) | gnomAD v4 |
16 | g.56869841_56869842delinsTC | CA2224349126 | SLC12A3 | c.601+17_601+18delinsTC (n.601+17_601+18delinsTC) c.598+17_598+18delinsTC (n.598+17_598+18delinsTC) | |
16 | g.56869842C>T | CA2739266787 | SLC12A3 | c.601+18C>T (n.601+18C>T) c.598+18C>T (n.598+18C>T) | ClinVar |
16 | g.56869843del | CA8069108 | SLC12A3 | c.601+19del (n.601+19del) c.598+19del (n.598+19del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869843C>A | CA2633370412 | SLC12A3 | c.601+19C>A (n.601+19C>A) c.598+19C>A (n.598+19C>A) | gnomAD v4 |
16 | g.56869845C>A | CA2633370414 | SLC12A3 | c.601+21C>A (n.601+21C>A) c.598+21C>A (n.598+21C>A) | gnomAD v4 |
16 | g.56869845C= | CA2224349127 | SLC12A3 | c.601+21C= (n.601+21C=) c.598+21C= (n.598+21C=) | |
16 | g.56869845C>T | CA8069109 | SLC12A3 | c.601+21C>T (n.601+21C>T) c.598+21C>T (n.598+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869846C>A | CA2576001861 | SLC12A3 | c.601+22C>A (n.601+22C>A) c.598+22C>A (n.598+22C>A) | gnomAD v4 |
16 | g.56869846C>T | CA2576001860 | SLC12A3 | c.601+22C>T (n.601+22C>T) c.598+22C>T (n.598+22C>T) | gnomAD v4 |
16 | g.56869848A>C | CA2633370415 | SLC12A3 | c.601+24A>C (n.601+24A>C) c.598+24A>C (n.598+24A>C) | gnomAD v4 |
16 | g.56869849G>A | CA8069110 | SLC12A3 | c.601+25G>A (n.601+25G>A) c.598+25G>A (n.598+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869849G= | CA2224349128 | SLC12A3 | c.601+25G= (n.601+25G=) c.598+25G= (n.598+25G=) | |
16 | g.56869851C>A | CA2633370420 | SLC12A3 | c.601+27C>A (n.601+27C>A) c.598+27C>A (n.598+27C>A) | gnomAD v4 |
16 | g.56869851C= | CA2224349129 | SLC12A3 | c.601+27C= (n.601+27C=) c.598+27C= (n.598+27C=) | |
16 | g.56869851C>T | CA977637963 | SLC12A3 | c.601+27C>T (n.601+27C>T) c.598+27C>T (n.598+27C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869853del | CA2576001863 | SLC12A3 | c.601+29del (n.601+29del) c.598+29del (n.598+29del) | |
16 | g.56869852C= | CA2224349130 | SLC12A3 | c.601+28C= (n.601+28C=) c.598+28C= (n.598+28C=) | |
16 | g.56869852C>T | CA977637967 | SLC12A3 | c.601+28C>T (n.601+28C>T) c.598+28C>T (n.598+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869853C>A | CA2576001864 | SLC12A3 | c.601+29C>A (n.601+29C>A) c.598+29C>A (n.598+29C>A) | |
16 | g.56869853_56869854insACGAGAGGAGGGCCTTGG | CA2633370422 | SLC12A3 | c.601+29_601+30insACGAGAGGAGGGCCTTGG (n.601+29_601+30insACGAGAGGAGGGCCTTGG) c.598+29_598+30insACGAGAGGAGGGCCTTGG (n.598+29_598+30insACGAGAGGAGGGCCTTGG) | gnomAD v4 |
16 | g.56869855C>A | CA622333572 | SLC12A3 | c.601+31C>A (n.601+31C>A) c.598+31C>A (n.598+31C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869855C= | CA2224349131 | SLC12A3 | c.601+31C= (n.601+31C=) c.598+31C= (n.598+31C=) | |
16 | g.56869855C>T | CA8069111 | SLC12A3 | c.601+31C>T (n.601+31C>T) c.598+31C>T (n.598+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869856C= | CA2224349132 | SLC12A3 | c.601+32C= (n.601+32C=) c.598+32C= (n.598+32C=) | |
16 | g.56869856C>G | CA622333573 | SLC12A3 | c.601+32C>G (n.601+32C>G) c.598+32C>G (n.598+32C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869859_56869860del | CA2633370430 | SLC12A3 | c.601+35_601+36del (n.601+35_601+36del) c.598+35_598+36del (n.598+35_598+36del) | gnomAD v4 |
16 | g.56869857T>C | CA2633370434 | SLC12A3 | c.601+33T>C (n.601+33T>C) c.598+33T>C (n.598+33T>C) | gnomAD v4 |
16 | g.56869860C>A | CA622333574 | SLC12A3 | c.601+36C>A (n.601+36C>A) c.598+36C>A (n.598+36C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869860C= | CA2224349133 | SLC12A3 | c.601+36C= (n.601+36C=) c.598+36C= (n.598+36C=) | |
16 | g.56869860C>G | CA622333575 | SLC12A3 | c.601+36C>G (n.601+36C>G) c.598+36C>G (n.598+36C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869860C>T | CA8069112 | SLC12A3 | c.601+36C>T (n.601+36C>T) c.598+36C>T (n.598+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869861G>A | CA8069113 | SLC12A3 | c.601+37G>A (n.601+37G>A) c.598+37G>A (n.598+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869861G= | CA2224349134 | SLC12A3 | c.601+37G= (n.601+37G=) c.598+37G= (n.598+37G=) | |
16 | g.56869861G>T | CA622333576 | SLC12A3 | c.601+37G>T (n.601+37G>T) c.598+37G>T (n.598+37G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869862T>C | CA8069114 | SLC12A3 | c.601+38T>C (n.601+38T>C) c.598+38T>C (n.598+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869862T>G | CA722004812 | SLC12A3 | c.601+38T>G (n.601+38T>G) c.598+38T>G (n.598+38T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869862T= | CA2224349135 | SLC12A3 | c.601+38T= (n.601+38T=) c.598+38T= (n.598+38T=) | |
16 | g.56869863G>A | CA622333577 | SLC12A3 | c.601+39G>A (n.601+39G>A) c.598+39G>A (n.598+39G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869863G= | CA2224349136 | SLC12A3 | c.601+39G= (n.601+39G=) c.598+39G= (n.598+39G=) | |
16 | g.56869863G>T | CA8069115 | SLC12A3 | c.601+39G>T (n.601+39G>T) c.598+39G>T (n.598+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869864G= | CA2224349137 | SLC12A3 | c.601+40G= (n.601+40G=) c.598+40G= (n.598+40G=) | |
16 | g.56869864G>T | CA8069116 | SLC12A3 | c.601+40G>T (n.601+40G>T) c.598+40G>T (n.598+40G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869865G>A | CA622333580 | SLC12A3 | c.601+41G>A (n.601+41G>A) c.598+41G>A (n.598+41G>A) | dbSNP gnomAD v2 |
16 | g.56869865G>C | CA2576001871 | SLC12A3 | c.601+41G>C (n.601+41G>C) c.598+41G>C (n.598+41G>C) | |
16 | g.56869865G= | CA2224349138 | SLC12A3 | c.601+41G= (n.601+41G=) c.598+41G= (n.598+41G=) | |
16 | g.56869865G>T | CA2633370451 | SLC12A3 | c.601+41G>T (n.601+41G>T) c.598+41G>T (n.598+41G>T) | gnomAD v4 |
16 | g.56869866C>A | CA2576001872 | SLC12A3 | c.601+42C>A (n.601+42C>A) c.598+42C>A (n.598+42C>A) | gnomAD v4 |
16 | g.56869866C>T | CA2633370452 | SLC12A3 | c.601+42C>T (n.601+42C>T) c.598+42C>T (n.598+42C>T) | gnomAD v4 |
16 | g.56869868C>G | CA2576001874 | SLC12A3 | c.601+44C>G (n.601+44C>G) c.598+44C>G (n.598+44C>G) | |
16 | g.56869868C>T | CA2633370453 | SLC12A3 | c.601+44C>T (n.601+44C>T) c.598+44C>T (n.598+44C>T) | gnomAD v4 |
16 | g.56869869C>T | CA2576001875 | SLC12A3 | c.601+45C>T (n.601+45C>T) c.598+45C>T (n.598+45C>T) | |
16 | g.56869871A= | CA2224349139 | SLC12A3 | c.601+47A= (n.601+47A=) c.598+47A= (n.598+47A=) | |
16 | g.56869871A>T | CA622333582 | SLC12A3 | c.601+47A>T (n.601+47A>T) c.598+47A>T (n.598+47A>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869872A= | CA2224349140 | SLC12A3 | c.601+48A= (n.601+48A=) c.598+48A= (n.598+48A=) | |
16 | g.56869872A>C | CA2224349141 | SLC12A3 | c.601+48A>C (n.601+48A>C) c.598+48A>C (n.598+48A>C) | dbSNP gnomAD v4 |
16 | g.56869874C>A | CA2633370457 | SLC12A3 | c.601+50C>A (n.601+50C>A) c.598+50C>A (n.598+50C>A) | gnomAD v4 |
16 | g.56869874C= | CA2224349142 | SLC12A3 | c.601+50C= (n.601+50C=) c.598+50C= (n.598+50C=) | |
16 | g.56869874C>G | CA2224349143 | SLC12A3 | c.601+50C>G (n.601+50C>G) c.598+50C>G (n.598+50C>G) | dbSNP gnomAD v4 |
16 | g.56869874C>T | CA622333584 | SLC12A3 | c.601+50C>T (n.601+50C>T) c.598+50C>T (n.598+50C>T) | dbSNP gnomAD v2 |
16 | g.56869875C>G | CA2633370459 | SLC12A3 | c.601+51C>G (n.601+51C>G) c.598+51C>G (n.598+51C>G) | gnomAD v4 |
16 | g.56869877G>T | CA2633370461 | SLC12A3 | c.601+53G>T (n.601+53G>T) c.598+53G>T (n.598+53G>T) | gnomAD v4 |
16 | g.56869877_56869878insTTCCCA | CA2633370462 | SLC12A3 | c.601+53_601+54insTTCCCA (n.601+53_601+54insTTCCCA) c.598+53_598+54insTTCCCA (n.598+53_598+54insTTCCCA) | gnomAD v4 |
16 | g.56869878G>A | CA722004819 | SLC12A3 | c.601+54G>A (n.601+54G>A) c.598+54G>A (n.598+54G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869878G= | CA2224349144 | SLC12A3 | c.601+54G= (n.601+54G=) c.598+54G= (n.598+54G=) | |
16 | g.56869878G>T | CA2633370465 | SLC12A3 | c.601+54G>T (n.601+54G>T) c.598+54G>T (n.598+54G>T) | gnomAD v4 |
16 | g.56869879G>T | CA2633370479 | SLC12A3 | c.601+55G>T (n.601+55G>T) c.598+55G>T (n.598+55G>T) | gnomAD v4 |
16 | g.56869881A>C | CA2633370481 | SLC12A3 | c.601+57A>C (n.601+57A>C) c.598+57A>C (n.598+57A>C) | gnomAD v4 |
16 | g.56869881A>T | CA2633370482 | SLC12A3 | c.601+57A>T (n.601+57A>T) c.598+57A>T (n.598+57A>T) | gnomAD v4 |
16 | g.56869882C>A | CA281496699 | SLC12A3 | c.601+58C>A (n.601+58C>A) c.598+58C>A (n.598+58C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869882C= | CA2224349145 | SLC12A3 | c.601+58C= (n.601+58C=) c.598+58C= (n.598+58C=) | |
16 | g.56869882C>T | CA281496701 | SLC12A3 | c.601+58C>T (n.601+58C>T) c.598+58C>T (n.598+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869883A= | CA2224349146 | SLC12A3 | c.601+59A= (n.601+59A=) c.598+59A= (n.598+59A=) | |
16 | g.56869883A>C | CA2576001877 | SLC12A3 | c.601+59A>C (n.601+59A>C) c.598+59A>C (n.598+59A>C) | |
16 | g.56869883A>G | CA722004821 | SLC12A3 | c.601+59A>G (n.601+59A>G) c.598+59A>G (n.598+59A>G) | dbSNP gnomAD v4 |
16 | g.56869884G= | CA2224349147 | SLC12A3 | c.601+60G= (n.601+60G=) c.598+60G= (n.598+60G=) | |
16 | g.56869884G>T | CA2224349148 | SLC12A3 | c.601+60G>T (n.601+60G>T) c.598+60G>T (n.598+60G>T) | dbSNP gnomAD v4 |
16 | g.56869885G>A | CA2633370490 | SLC12A3 | c.601+61G>A (n.601+61G>A) c.598+61G>A (n.598+61G>A) | gnomAD v4 |
16 | g.56869886A>G | CA2576001879 | SLC12A3 | c.601+62A>G (n.601+62A>G) c.598+62A>G (n.598+62A>G) | |
16 | g.56869887C>A | CA2576001880 | SLC12A3 | c.601+63C>A (n.601+63C>A) c.598+63C>A (n.598+63C>A) | gnomAD v4 |
16 | g.56869887C>T | CA2576001881 | SLC12A3 | c.601+63C>T (n.601+63C>T) c.598+63C>T (n.598+63C>T) | gnomAD v4 |
16 | g.56869888T>C | CA977637985 | SLC12A3 | c.601+64T>C (n.601+64T>C) c.598+64T>C (n.598+64T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869888T= | CA2224349149 | SLC12A3 | c.601+64T= (n.601+64T=) c.598+64T= (n.598+64T=) | |
16 | g.56869889C= | CA2224349150 | SLC12A3 | c.601+65C= (n.601+65C=) c.598+65C= (n.598+65C=) | |
16 | g.56869889C>T | CA2224349151 | SLC12A3 | c.601+65C>T (n.601+65C>T) c.598+65C>T (n.598+65C>T) | dbSNP |
16 | g.56869890C= | CA2224349152 | SLC12A3 | c.601+66C= (n.601+66C=) c.598+66C= (n.598+66C=) | |
16 | g.56869890C>T | CA2224349153 | SLC12A3 | c.601+66C>T (n.601+66C>T) c.598+66C>T (n.598+66C>T) | dbSNP gnomAD v4 |
16 | g.56869891C>A | CA2633370496 | SLC12A3 | c.601+67C>A (n.601+67C>A) c.598+67C>A (n.598+67C>A) | gnomAD v4 |
16 | g.56869891C= | CA2224349154 | SLC12A3 | c.601+67C= (n.601+67C=) c.598+67C= (n.598+67C=) | |
16 | g.56869891C>T | CA722004823 | SLC12A3 | c.601+67C>T (n.601+67C>T) c.598+67C>T (n.598+67C>T) | dbSNP gnomAD v4 |
16 | g.56869892A>G | CA2633370500 | SLC12A3 | c.601+68A>G (n.601+68A>G) c.598+68A>G (n.598+68A>G) | gnomAD v4 |
16 | g.56869893A>C | CA2633370502 | SLC12A3 | c.601+69A>C (n.601+69A>C) c.598+69A>C (n.598+69A>C) | gnomAD v4 |
16 | g.56869893A>G | CA2633370503 | SLC12A3 | c.601+69A>G (n.601+69A>G) c.598+69A>G (n.598+69A>G) | gnomAD v4 |
16 | g.56869893_56869894insACA | CA2807159808 | SLC12A3 | c.601+69_601+70insACA (n.601+69_601+70insACA) c.598+69_598+70insACA (n.598+69_598+70insACA) | |
16 | g.56869894C>A | CA2576001882 | SLC12A3 | c.601+70C>A (n.601+70C>A) c.598+70C>A (n.598+70C>A) | |
16 | g.56869895T>A | CA2807159811 | SLC12A3 | c.601+71T>A (n.601+71T>A) c.598+71T>A (n.598+71T>A) | |
16 | g.56869895_56869896del | CA2807159810 | SLC12A3 | c.601+71_601+72del (n.601+71_601+72del) c.598+71_598+72del (n.598+71_598+72del) | |
16 | g.56869896T>A | CA2807159812 | SLC12A3 | c.601+72T>A (n.601+72T>A) c.598+72T>A (n.598+72T>A) | |
16 | g.56869896T>C | CA2224349156 | SLC12A3 | c.601+72T>C (n.601+72T>C) c.598+72T>C (n.598+72T>C) | dbSNP |
16 | g.56869896T= | CA2224349155 | SLC12A3 | c.601+72T= (n.601+72T=) c.598+72T= (n.598+72T=) | |
16 | g.56869897C>A | CA2633370505 | SLC12A3 | c.601+73C>A (n.601+73C>A) c.598+73C>A (n.598+73C>A) | gnomAD v4 |
16 | g.56869897C= | CA2224349157 | SLC12A3 | c.601+73C= (n.601+73C=) c.598+73C= (n.598+73C=) | |
16 | g.56869897C>T | CA722004825 | SLC12A3 | c.601+73C>T (n.601+73C>T) c.598+73C>T (n.598+73C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869898C>A | CA2576001884 | SLC12A3 | c.601+74C>A (n.601+74C>A) c.598+74C>A (n.598+74C>A) | gnomAD v4 |
16 | g.56869898C>T | CA2633370507 | SLC12A3 | c.601+74C>T (n.601+74C>T) c.598+74C>T (n.598+74C>T) | gnomAD v4 |
16 | g.56869899C>A | CA2576001885 | SLC12A3 | c.601+75C>A (n.601+75C>A) c.598+75C>A (n.598+75C>A) | |
16 | g.56869899C= | CA2224349158 | SLC12A3 | c.601+75C= (n.601+75C=) c.598+75C= (n.598+75C=) | |
16 | g.56869899C>T | CA281496704 | SLC12A3 | c.601+75C>T (n.601+75C>T) c.598+75C>T (n.598+75C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869900C>A | CA2633370510 | SLC12A3 | c.601+76C>A (n.601+76C>A) c.598+76C>A (n.598+76C>A) | gnomAD v4 |
16 | g.56869900C= | CA2224349159 | SLC12A3 | c.601+76C= (n.601+76C=) c.598+76C= (n.598+76C=) | |
16 | g.56869900C>T | CA722004826 | SLC12A3 | c.601+76C>T (n.601+76C>T) c.598+76C>T (n.598+76C>T) | dbSNP gnomAD v4 |
16 | g.56869901A>G | CA2807159813 | SLC12A3 | c.601+77A>G (n.601+77A>G) c.598+77A>G (n.598+77A>G) | |
16 | g.56869901A>T | CA2633370514 | SLC12A3 | c.601+77A>T (n.601+77A>T) c.598+77A>T (n.598+77A>T) | gnomAD v4 |
16 | g.56869902A>G | CA2633370517 | SLC12A3 | c.601+78A>G (n.601+78A>G) c.598+78A>G (n.598+78A>G) | gnomAD v4 |
16 | g.56869902_56869903delinsAC | CA2224349160 | SLC12A3 | c.601+78_601+79delinsAC (n.601+78_601+79delinsAC) c.598+78_598+79delinsAC (n.598+78_598+79delinsAC) | |
16 | g.56869903C>A | CA622333585 | SLC12A3 | c.601+79C>A (n.601+79C>A) c.598+79C>A (n.598+79C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869903C= | CA2224349161 | SLC12A3 | c.601+79C= (n.601+79C=) c.598+79C= (n.598+79C=) | |
16 | g.56869903C>G | CA2633370519 | SLC12A3 | c.601+79C>G (n.601+79C>G) c.598+79C>G (n.598+79C>G) | gnomAD v4 |
16 | g.56869903C>T | CA2576001886 | SLC12A3 | c.601+79C>T (n.601+79C>T) c.598+79C>T (n.598+79C>T) | dbSNP gnomAD v4 |
16 | g.56869905del | CA977637989 | SLC12A3 | c.601+81del (n.601+81del) c.598+81del (n.598+81del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869904C>A | CA2576001887 | SLC12A3 | c.601+80C>A (n.601+80C>A) c.598+80C>A (n.598+80C>A) | gnomAD v4 |
16 | g.56869904C>T | CA2576001888 | SLC12A3 | c.601+80C>T (n.601+80C>T) c.598+80C>T (n.598+80C>T) | |
16 | g.56869905C>A | CA2633370525 | SLC12A3 | c.601+81C>A (n.601+81C>A) c.598+81C>A (n.598+81C>A) | gnomAD v4 |
16 | g.56869906A= | CA2224349162 | SLC12A3 | c.601+82A= (n.601+82A=) c.598+82A= (n.598+82A=) | |
16 | g.56869906A>G | CA2224349163 | SLC12A3 | c.601+82A>G (n.601+82A>G) c.598+82A>G (n.598+82A>G) | dbSNP gnomAD v4 |
16 | g.56869907A= | CA2224349164 | SLC12A3 | c.601+83A= (n.601+83A=) c.598+83A= (n.598+83A=) | |
16 | g.56869907A>C | CA2633370531 | SLC12A3 | c.601+83A>C (n.601+83A>C) c.598+83A>C (n.598+83A>C) | gnomAD v4 |
16 | g.56869907A>G | CA281496708 | SLC12A3 | c.601+83A>G (n.601+83A>G) c.598+83A>G (n.598+83A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869908T>C | CA2224349166 | SLC12A3 | c.601+84T>C (n.601+84T>C) c.598+84T>C (n.598+84T>C) | dbSNP gnomAD v4 |
16 | g.56869908T= | CA2224349165 | SLC12A3 | c.601+84T= (n.601+84T=) c.598+84T= (n.598+84T=) | |
16 | g.56869909G>A | CA2633370537 | SLC12A3 | c.601+85G>A (n.601+85G>A) c.598+85G>A (n.598+85G>A) | gnomAD v4 |
16 | g.56869909G>T | CA2633370538 | SLC12A3 | c.601+85G>T (n.601+85G>T) c.598+85G>T (n.598+85G>T) | gnomAD v4 |
16 | g.56869911T>G | CA2732476712 | SLC12A3 | c.601+87T>G (n.601+87T>G) c.598+87T>G (n.598+87T>G) | dbSNP |
16 | g.56869912A= | CA2224349168 | SLC12A3 | c.601+88A= (n.601+88A=) c.598+88A= (n.598+88A=) | |
16 | g.56869912A>C | CA2224349167 | SLC12A3 | c.601+88A>C (n.601+88A>C) c.598+88A>C (n.598+88A>C) | dbSNP |
16 | g.56869912A>G | CA722004829 | SLC12A3 | c.601+88A>G (n.601+88A>G) c.598+88A>G (n.598+88A>G) | dbSNP gnomAD v4 |
16 | g.56869913C>A | CA2633370540 | SLC12A3 | c.601+89C>A (n.601+89C>A) c.598+89C>A (n.598+89C>A) | gnomAD v4 |
16 | g.56869913C= | CA2224349169 | SLC12A3 | c.601+89C= (n.601+89C=) c.598+89C= (n.598+89C=) | |
16 | g.56869913C>T | CA722004831 | SLC12A3 | c.601+89C>T (n.601+89C>T) c.598+89C>T (n.598+89C>T) | dbSNP gnomAD v4 |