Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.144413406_144414398del | CA2580078692 | SLC39A4 | c.1023_1475-7del c.948_1400-7del c.1023_1474+117del c.741_1193-7del c.741_1192+117del | ClinVar |
8 | g.144414242G>A | CA4941378 | SLC39A4 | c.1149+20C>T (n.1149+20C>T) c.1074+20C>T (n.1074+20C>T) c.867+20C>T (n.867+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414242G= | CA1826307039 | SLC39A4 | c.1149+20C= (n.1149+20C=) c.1074+20C= (n.1074+20C=) c.867+20C= (n.867+20C=) | |
8 | g.144414243del | CA2689098312 | SLC39A4 | c.1149+19del (n.1149+19del) c.1074+19del (n.1074+19del) c.867+19del (n.867+19del) | gnomAD v4 |
8 | g.144414243C= | CA1826307040 | SLC39A4 | c.1149+19G= (n.1149+19G=) c.1074+19G= (n.1074+19G=) c.867+19G= (n.867+19G=) | |
8 | g.144414243C>G | CA586164223 | SLC39A4 | c.1149+19G>C (n.1149+19G>C) c.1074+19G>C (n.1074+19G>C) c.867+19G>C (n.867+19G>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414243C>T | CA4941379 | SLC39A4 | c.1149+19G>A (n.1149+19G>A) c.1074+19G>A (n.1074+19G>A) c.867+19G>A (n.867+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414244G>A | CA586164224 | SLC39A4 | c.1149+18C>T (n.1149+18C>T) c.1074+18C>T (n.1074+18C>T) c.867+18C>T (n.867+18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414244G= | CA1826307041 | SLC39A4 | c.1149+18C= (n.1149+18C=) c.1074+18C= (n.1074+18C=) c.867+18C= (n.867+18C=) | |
8 | g.144414244G>T | CA586164225 | SLC39A4 | c.1149+18C>A (n.1149+18C>A) c.1074+18C>A (n.1074+18C>A) c.867+18C>A (n.867+18C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414245G>A | CA187647997 | SLC39A4 | c.1149+17C>T (n.1149+17C>T) c.1074+17C>T (n.1074+17C>T) c.867+17C>T (n.867+17C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.144414245G= | CA1826307042 | SLC39A4 | c.1149+17C= (n.1149+17C=) c.1074+17C= (n.1074+17C=) c.867+17C= (n.867+17C=) | |
8 | g.144414245G>T | CA2689098316 | SLC39A4 | c.1149+17C>A (n.1149+17C>A) c.1074+17C>A (n.1074+17C>A) c.867+17C>A (n.867+17C>A) | gnomAD v4 |
8 | g.144414246G>A | CA586164226 | SLC39A4 | c.1149+16C>T (n.1149+16C>T) c.1074+16C>T (n.1074+16C>T) c.867+16C>T (n.867+16C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414246G= | CA1826307043 | SLC39A4 | c.1149+16C= (n.1149+16C=) c.1074+16C= (n.1074+16C=) c.867+16C= (n.867+16C=) | |
8 | g.144414246G>T | CA2689098319 | SLC39A4 | c.1149+16C>A (n.1149+16C>A) c.1074+16C>A (n.1074+16C>A) c.867+16C>A (n.867+16C>A) | gnomAD v4 |
8 | g.144414247T>C | CA2782585165 | SLC39A4 | c.1149+15A>G (n.1149+15A>G) c.1074+15A>G (n.1074+15A>G) c.867+15A>G (n.867+15A>G) | |
8 | g.144414247T>G | CA4941380 | SLC39A4 | c.1149+15A>C (n.1149+15A>C) c.1074+15A>C (n.1074+15A>C) c.867+15A>C (n.867+15A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414247T= | CA1826307044 | SLC39A4 | c.1149+15A= (n.1149+15A=) c.1074+15A= (n.1074+15A=) c.867+15A= (n.867+15A=) | |
8 | g.144414250G>A | CA4941381 | SLC39A4 | c.1149+12C>T (n.1149+12C>T) c.1074+12C>T (n.1074+12C>T) c.867+12C>T (n.867+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414250G= | CA1826307045 | SLC39A4 | c.1149+12C= (n.1149+12C=) c.1074+12C= (n.1074+12C=) c.867+12C= (n.867+12C=) | |
8 | g.144414250G>T | CA2689098324 | SLC39A4 | c.1149+12C>A (n.1149+12C>A) c.1074+12C>A (n.1074+12C>A) c.867+12C>A (n.867+12C>A) | gnomAD v4 |
8 | g.144414251del | CA2689098325 | SLC39A4 | c.1149+11del (n.1149+11del) c.1074+11del (n.1074+11del) c.867+11del (n.867+11del) | gnomAD v4 |
8 | g.144414251T>A | CA2782585166 | SLC39A4 | c.1149+11A>T (n.1149+11A>T) c.1074+11A>T (n.1074+11A>T) c.867+11A>T (n.867+11A>T) | |
8 | g.144414251_144414252delinsTG | CA1826307046 | SLC39A4 | c.1149+10_1149+11delinsCA (n.1149+10_1149+11delinsCA) c.1074+10_1074+11delinsCA (n.1074+10_1074+11delinsCA) c.867+10_867+11delinsCA (n.867+10_867+11delinsCA) | |
8 | g.144414251_144414265delinsTGGGGGCAGACCTTG | CA1826307047 | SLC39A4 | c.1146_1149+11delinsCAAGGTCTGCCCCCA c.1071_1074+11delinsCAAGGTCTGCCCCCA c.864_867+11delinsCAAGGTCTGCCCCCA | |
8 | g.144414252G>A | CA4941382 | SLC39A4 | c.1149+10C>T (n.1149+10C>T) c.1074+10C>T (n.1074+10C>T) c.867+10C>T (n.867+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414252G= | CA1826307049 | SLC39A4 | c.1149+10C= (n.1149+10C=) c.1074+10C= (n.1074+10C=) c.867+10C= (n.867+10C=) | |
8 | g.144414256dup | CA848876150 | SLC39A4 | c.1149+10dup (n.1149+10dup) c.1074+10dup (n.1074+10dup) c.867+10dup (n.867+10dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414256del | CA1826307048 | SLC39A4 | c.1149+10del (n.1149+10del) c.1074+10del (n.1074+10del) c.867+10del (n.867+10del) | ClinVar dbSNP gnomAD v4 |
8 | g.144414254_144414267del | CA1139660827 | SLC39A4 | c.1146_1149+10del c.1071_1074+10del c.864_867+10del | ClinVar dbSNP |
8 | g.144414253G>A | CA4941383 | SLC39A4 | c.1149+9C>T (n.1149+9C>T) c.1074+9C>T (n.1074+9C>T) c.867+9C>T (n.867+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414253G= | CA1826307050 | SLC39A4 | c.1149+9C= (n.1149+9C=) c.1074+9C= (n.1074+9C=) c.867+9C= (n.867+9C=) | |
8 | g.144414254G>A | CA4941384 | SLC39A4 | c.1149+8C>T (n.1149+8C>T) c.1074+8C>T (n.1074+8C>T) c.867+8C>T (n.867+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414254G>C | CA4941385 | SLC39A4 | c.1149+8C>G (n.1149+8C>G) c.1074+8C>G (n.1074+8C>G) c.867+8C>G (n.867+8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414254G= | CA1826307051 | SLC39A4 | c.1149+8C= (n.1149+8C=) c.1074+8C= (n.1074+8C=) c.867+8C= (n.867+8C=) | |
8 | g.144414255G>A | CA4941386 | SLC39A4 | c.1149+7C>T (n.1149+7C>T) c.1074+7C>T (n.1074+7C>T) c.867+7C>T (n.867+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414255G= | CA1826307052 | SLC39A4 | c.1149+7C= (n.1149+7C=) c.1074+7C= (n.1074+7C=) c.867+7C= (n.867+7C=) | |
8 | g.144414255_144414256insA | CA2579281043 | SLC39A4 | c.1149+6_1149+7insT (n.1149+6_1149+7insT) c.1074+6_1074+7insT (n.1074+6_1074+7insT) c.867+6_867+7insT (n.867+6_867+7insT) | ClinVar gnomAD v4 |
8 | g.144414256G>A | CA586164227 | SLC39A4 | c.1149+6C>T (n.1149+6C>T) c.1074+6C>T (n.1074+6C>T) c.867+6C>T (n.867+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414256G= | CA1826307053 | SLC39A4 | c.1149+6C= (n.1149+6C=) c.1074+6C= (n.1074+6C=) c.867+6C= (n.867+6C=) | |
8 | g.144414257C>A | CA2689098363 | SLC39A4 | c.1149+5G>T (n.1149+5G>T) c.1074+5G>T (n.1074+5G>T) c.867+5G>T (n.867+5G>T) | gnomAD v4 |
8 | g.144414257C>T | CA2689098364 | SLC39A4 | c.1149+5G>A (n.1149+5G>A) c.1074+5G>A (n.1074+5G>A) c.867+5G>A (n.867+5G>A) | gnomAD v4 |
8 | g.144414258A= | CA1826307054 | SLC39A4 | c.1149+4T= (n.1149+4T=) c.1074+4T= (n.1074+4T=) c.867+4T= (n.867+4T=) | |
8 | g.144414258A>G | CA586164228 | SLC39A4 | c.1149+4T>C (n.1149+4T>C) c.1074+4T>C (n.1074+4T>C) c.867+4T>C (n.867+4T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414259G>T | CA2689098370 | SLC39A4 | c.1149+3C>A (n.1149+3C>A) c.1074+3C>A (n.1074+3C>A) c.867+3C>A (n.867+3C>A) | gnomAD v4 |
8 | g.144414259dup | CA2689098369 | SLC39A4 | c.1149+3dup (n.1149+3dup) c.1074+3dup (n.1074+3dup) c.867+3dup (n.867+3dup) | gnomAD v4 |
8 | g.144414260A= | CA1826307055 | SLC39A4 | c.1149+2T= (n.1149+2T=) c.1074+2T= (n.1074+2T=) c.867+2T= (n.867+2T=) | |
8 | g.144414260A>C | CA372621072 | SLC39A4 | c.1149+2T>G (n.1149+2T>G) c.1074+2T>G (n.1074+2T>G) c.867+2T>G (n.867+2T>G) | |
8 | g.144414260A>G | CA372621070 | SLC39A4 | c.1149+2T>C (n.1149+2T>C) c.1074+2T>C (n.1074+2T>C) c.867+2T>C (n.867+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414260A>T | CA372621071 | SLC39A4 | c.1149+2T>A (n.1149+2T>A) c.1074+2T>A (n.1074+2T>A) c.867+2T>A (n.867+2T>A) | |
8 | g.144414261C>A | CA372621073 | SLC39A4 | c.1149+1G>T (n.1149+1G>T) c.1074+1G>T (n.1074+1G>T) c.867+1G>T (n.867+1G>T) | ClinVar gnomAD v4 |
8 | g.144414261C>G | CA372621074 | SLC39A4 | c.1149+1G>C (n.1149+1G>C) c.1074+1G>C (n.1074+1G>C) c.867+1G>C (n.867+1G>C) | gnomAD v4 |
8 | g.144414261C>T | CA372621075 | SLC39A4 | c.1149+1G>A (n.1149+1G>A) c.1074+1G>A (n.1074+1G>A) c.867+1G>A (n.867+1G>A) | ClinVar gnomAD v4 |
8 | g.144414262C>A | CA372621076 | SLC39A4 | c.1149G>T (p.Lys383Asn) c.1074G>T (p.Lys358Asn) c.867G>T (p.Lys289Asn) | gnomAD v4 |
8 | g.144414262C>G | CA372621077 | SLC39A4 | c.1149G>C (p.Lys383Asn) c.1074G>C (p.Lys358Asn) c.867G>C (p.Lys289Asn) | gnomAD v4 |
8 | g.144414262C>T | CA463449570 | SLC39A4 | c.1149G>A (p.Lys383=) c.1074G>A (p.Lys358=) c.867G>A (p.Lys289=) | |
8 | g.144414263T>A | CA372621078 | SLC39A4 | c.1148A>T (p.Lys383Met) c.1073A>T (p.Lys358Met) c.866A>T (p.Lys289Met) | |
8 | g.144414263T>C | CA372621079 | SLC39A4 | c.1148A>G (p.Lys383Arg) c.1073A>G (p.Lys358Arg) c.866A>G (p.Lys289Arg) | |
8 | g.144414263T>G | CA372621080 | SLC39A4 | c.1148A>C (p.Lys383Thr) c.1073A>C (p.Lys358Thr) c.866A>C (p.Lys289Thr) | gnomAD v4 |
8 | g.144414264T>A | CA372621081 | SLC39A4 | c.1147A>T (p.Lys383Ter) c.1072A>T (p.Lys358Ter) c.865A>T (p.Lys289Ter) | |
8 | g.144414264T>C | CA372621082 | SLC39A4 | c.1147A>G (p.Lys383Glu) c.1072A>G (p.Lys358Glu) c.865A>G (p.Lys289Glu) | gnomAD v4 |
8 | g.144414264T>G | CA372621083 | SLC39A4 | c.1147A>C (p.Lys383Gln) c.1072A>C (p.Lys358Gln) c.865A>C (p.Lys289Gln) | |
8 | g.144414265G>A | CA463449571 | SLC39A4 | c.1146C>T (p.Pro382=) c.1071C>T (p.Pro357=) c.864C>T (p.Pro288=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414265G>C | CA463449572 | SLC39A4 | c.1146C>G (p.Pro382=) c.1071C>G (p.Pro357=) c.864C>G (p.Pro288=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414265G= | CA1826307056 | SLC39A4 | c.1146C= (p.Pro382=) c.1071C= (p.Pro357=) c.864C= (p.Pro288=) | |
8 | g.144414265G>T | CA463449573 | SLC39A4 | c.1146C>A (p.Pro382=) c.1071C>A (p.Pro357=) c.864C>A (p.Pro288=) | |
8 | g.144414267del | CA2689098391 | SLC39A4 | c.1146del (p.Lys383ArgfsTer?) c.1071del (p.Lys358ArgfsTer?) c.864del (p.Lys289ArgfsTer?) | gnomAD v4 |
8 | g.144414266G>A | CA372621084 | SLC39A4 | c.1145C>T (p.Pro382Leu) c.1070C>T (p.Pro357Leu) c.863C>T (p.Pro288Leu) | |
8 | g.144414266G>C | CA372621086 | SLC39A4 | c.1145C>G (p.Pro382Arg) c.1070C>G (p.Pro357Arg) c.863C>G (p.Pro288Arg) | |
8 | g.144414266G>T | CA372621085 | SLC39A4 | c.1145C>A (p.Pro382His) c.1070C>A (p.Pro357His) c.863C>A (p.Pro288His) | gnomAD v4 |
8 | g.144414267G>A | CA372621087 | SLC39A4 | c.1144C>T (p.Pro382Ser) c.1069C>T (p.Pro357Ser) c.862C>T (p.Pro288Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414267G>C | CA372621088 | SLC39A4 | c.1144C>G (p.Pro382Ala) c.1069C>G (p.Pro357Ala) c.862C>G (p.Pro288Ala) | |
8 | g.144414267G= | CA1826307057 | SLC39A4 | c.1144C= (p.Pro382=) c.1069C= (p.Pro357=) c.862C= (p.Pro288=) | |
8 | g.144414267G>T | CA372621089 | SLC39A4 | c.1144C>A (p.Pro382Thr) c.1069C>A (p.Pro357Thr) c.862C>A (p.Pro288Thr) | gnomAD v4 |
8 | g.144414268C>A | CA463449574 | SLC39A4 | c.1143G>T (p.Thr381=) c.1068G>T (p.Thr356=) c.861G>T (p.Thr287=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414268C= | CA1826307058 | SLC39A4 | c.1143G= (p.Thr381=) c.1068G= (p.Thr356=) c.861G= (p.Thr287=) | |
8 | g.144414268C>G | CA463449575 | SLC39A4 | c.1143G>C (p.Thr381=) c.1068G>C (p.Thr356=) c.861G>C (p.Thr287=) | |
8 | g.144414268C>T | CA4941387 | SLC39A4 | c.1143G>A (p.Thr381=) c.1068G>A (p.Thr356=) c.861G>A (p.Thr287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.144414269G>A | CA4941388 | SLC39A4 | c.1142C>T (p.Thr381Met) c.1067C>T (p.Thr356Met) c.860C>T (p.Thr287Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414269G>C | CA372621090 | SLC39A4 | c.1142C>G (p.Thr381Arg) c.1067C>G (p.Thr356Arg) c.860C>G (p.Thr287Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414269G= | CA1826307059 | SLC39A4 | c.1142C= (p.Thr381=) c.1067C= (p.Thr356=) c.860C= (p.Thr287=) | |
8 | g.144414269G>T | CA372621091 | SLC39A4 | c.1142C>A (p.Thr381Lys) c.1067C>A (p.Thr356Lys) c.860C>A (p.Thr287Lys) | |
8 | g.144414270T>A | CA372621092 | SLC39A4 | c.1141A>T (p.Thr381Ser) c.1066A>T (p.Thr356Ser) c.859A>T (p.Thr287Ser) | |
8 | g.144414270T>C | CA4941389 | SLC39A4 | c.1141A>G (p.Thr381Ala) c.1066A>G (p.Thr356Ala) c.859A>G (p.Thr287Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414270T>G | CA372621093 | SLC39A4 | c.1141A>C (p.Thr381Pro) c.1066A>C (p.Thr356Pro) c.859A>C (p.Thr287Pro) | |
8 | g.144414270T= | CA1826307060 | SLC39A4 | c.1141A= (p.Thr381=) c.1066A= (p.Thr356=) c.859A= (p.Thr287=) | |
8 | g.144414271C>A | CA463449579 | SLC39A4 | c.1140G>T (p.Leu380=) c.1065G>T (p.Leu355=) c.858G>T (p.Leu286=) | ClinVar gnomAD v4 |
8 | g.144414271C= | CA1826307061 | SLC39A4 | c.1140G= (p.Leu380=) c.1065G= (p.Leu355=) c.858G= (p.Leu286=) | |
8 | g.144414271C>G | CA463449581 | SLC39A4 | c.1140G>C (p.Leu380=) c.1065G>C (p.Leu355=) c.858G>C (p.Leu286=) | |
8 | g.144414271C>T | CA463449580 | SLC39A4 | c.1140G>A (p.Leu380=) c.1065G>A (p.Leu355=) c.858G>A (p.Leu286=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414274_144414284dup | CA2695210376 | SLC39A4 | c.1130_1140dup (p.Thr381SerfsTer4) c.1055_1065dup (p.Thr356SerfsTer4) c.848_858dup (p.Thr287SerfsTer4) | |
8 | g.144414272A>C | CA372621096 | SLC39A4 | c.1139T>G (p.Leu380Arg) c.1064T>G (p.Leu355Arg) c.857T>G (p.Leu286Arg) | |
8 | g.144414272A>G | CA372621095 | SLC39A4 | c.1139T>C (p.Leu380Pro) c.1064T>C (p.Leu355Pro) c.857T>C (p.Leu286Pro) | |
8 | g.144414272A>T | CA372621094 | SLC39A4 | c.1139T>A (p.Leu380Gln) c.1064T>A (p.Leu355Gln) c.857T>A (p.Leu286Gln) | |
8 | g.144414273G>A | CA463449582 | SLC39A4 | c.1138C>T (p.Leu380=) c.1063C>T (p.Leu355=) c.856C>T (p.Leu286=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414273G>C | CA372621097 | SLC39A4 | c.1138C>G (p.Leu380Val) c.1063C>G (p.Leu355Val) c.856C>G (p.Leu286Val) | |
8 | g.144414273G= | CA1826307062 | SLC39A4 | c.1138C= (p.Leu380=) c.1063C= (p.Leu355=) c.856C= (p.Leu286=) | |
8 | g.144414273G>T | CA372621098 | SLC39A4 | c.1138C>A (p.Leu380Met) c.1063C>A (p.Leu355Met) c.856C>A (p.Leu286Met) | |
8 | g.144414274A>C | CA372621099 | SLC39A4 | c.1137T>G (p.His379Gln) c.1062T>G (p.His354Gln) c.855T>G (p.His285Gln) | |
8 | g.144414274A>G | CA463449583 | SLC39A4 | c.1137T>C (p.His379=) c.1062T>C (p.His354=) c.855T>C (p.His285=) | |
8 | g.144414274A>T | CA372621100 | SLC39A4 | c.1137T>A (p.His379Gln) c.1062T>A (p.His354Gln) c.855T>A (p.His285Gln) | |
8 | g.144414275T>A | CA372621101 | SLC39A4 | c.1136A>T (p.His379Leu) c.1061A>T (p.His354Leu) c.854A>T (p.His285Leu) | |
8 | g.144414275T>C | CA372621102 | SLC39A4 | c.1136A>G (p.His379Arg) c.1061A>G (p.His354Arg) c.854A>G (p.His285Arg) | |
8 | g.144414275T>G | CA372621103 | SLC39A4 | c.1136A>C (p.His379Pro) c.1061A>C (p.His354Pro) c.854A>C (p.His285Pro) | gnomAD v4 |
8 | g.144414276G>A | CA187648054 | SLC39A4 | c.1135C>T (p.His379Tyr) c.1060C>T (p.His354Tyr) c.853C>T (p.His285Tyr) | dbSNP gnomAD v4 |
8 | g.144414276G>C | CA372621104 | SLC39A4 | c.1135C>G (p.His379Asp) c.1060C>G (p.His354Asp) c.853C>G (p.His285Asp) | |
8 | g.144414276G= | CA1826307063 | SLC39A4 | c.1135C= (p.His379=) c.1060C= (p.His354=) c.853C= (p.His285=) | |
8 | g.144414276G>T | CA372621105 | SLC39A4 | c.1135C>A (p.His379Asn) c.1060C>A (p.His354Asn) c.853C>A (p.His285Asn) | |
8 | g.144414277C>A | CA463449584 | SLC39A4 | c.1134G>T (p.Leu378=) c.1059G>T (p.Leu353=) c.852G>T (p.Leu284=) | gnomAD v4 |
8 | g.144414277C= | CA1826307064 | SLC39A4 | c.1134G= (p.Leu378=) c.1059G= (p.Leu353=) c.852G= (p.Leu284=) | |
8 | g.144414277C>G | CA463449585 | SLC39A4 | c.1134G>C (p.Leu378=) c.1059G>C (p.Leu353=) c.852G>C (p.Leu284=) | |
8 | g.144414277C>T | CA463449587 | SLC39A4 | c.1134G>A (p.Leu378=) c.1059G>A (p.Leu353=) c.852G>A (p.Leu284=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414278A= | CA1826307065 | SLC39A4 | c.1133T= (p.Leu378=) c.1058T= (p.Leu353=) c.851T= (p.Leu284=) | |
8 | g.144414278A>C | CA372621106 | SLC39A4 | c.1133T>G (p.Leu378Arg) c.1058T>G (p.Leu353Arg) c.851T>G (p.Leu284Arg) | |
8 | g.144414278A>G | CA372621107 | SLC39A4 | c.1133T>C (p.Leu378Pro) c.1058T>C (p.Leu353Pro) c.851T>C (p.Leu284Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414278A>T | CA372621108 | SLC39A4 | c.1133T>A (p.Leu378Gln) c.1058T>A (p.Leu353Gln) c.851T>A (p.Leu284Gln) | |
8 | g.144414279G>A | CA463449590 | SLC39A4 | c.1132C>T (p.Leu378=) c.1057C>T (p.Leu353=) c.850C>T (p.Leu284=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414279G>C | CA372621110 | SLC39A4 | c.1132C>G (p.Leu378Val) c.1057C>G (p.Leu353Val) c.850C>G (p.Leu284Val) | |
8 | g.144414279G= | CA1826307066 | SLC39A4 | c.1132C= (p.Leu378=) c.1057C= (p.Leu353=) c.850C= (p.Leu284=) | |
8 | g.144414279G>T | CA372621109 | SLC39A4 | c.1132C>A (p.Leu378Met) c.1057C>A (p.Leu353Met) c.850C>A (p.Leu284Met) | gnomAD v4 |
8 | g.144414280del | CA2573143007 | SLC39A4 | c.1132del (p.Leu378CysfsTer3) c.1057del (p.Leu353CysfsTer3) c.850del (p.Leu284CysfsTer3) | ClinVar dbSNP gnomAD v4 |
8 | g.144414280G>A | CA463449591 | SLC39A4 | c.1131C>T (p.Val377=) c.1056C>T (p.Val352=) c.849C>T (p.Val283=) | dbSNP gnomAD v4 |
8 | g.144414280G>C | CA4941390 | SLC39A4 | c.1131C>G (p.Val377=) c.1056C>G (p.Val352=) c.849C>G (p.Val283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414280G= | CA1826307067 | SLC39A4 | c.1131C= (p.Val377=) c.1056C= (p.Val352=) c.849C= (p.Val283=) | |
8 | g.144414280G>T | CA463449592 | SLC39A4 | c.1131C>A (p.Val377=) c.1056C>A (p.Val352=) c.849C>A (p.Val283=) | |
8 | g.144414281A>C | CA372621111 | SLC39A4 | c.1130T>G (p.Val377Gly) c.1055T>G (p.Val352Gly) c.848T>G (p.Val283Gly) | |
8 | g.144414281A>G | CA372621112 | SLC39A4 | c.1130T>C (p.Val377Ala) c.1055T>C (p.Val352Ala) c.848T>C (p.Val283Ala) | |
8 | g.144414281A>T | CA372621113 | SLC39A4 | c.1130T>A (p.Val377Asp) c.1055T>A (p.Val352Asp) c.848T>A (p.Val283Asp) | |
8 | g.144414282C>A | CA372621114 | SLC39A4 | c.1129G>T (p.Val377Phe) c.1054G>T (p.Val352Phe) c.847G>T (p.Val283Phe) | gnomAD v4 |
8 | g.144414282C>G | CA372621115 | SLC39A4 | c.1129G>C (p.Val377Leu) c.1054G>C (p.Val352Leu) c.847G>C (p.Val283Leu) | |
8 | g.144414282C>T | CA372621116 | SLC39A4 | c.1129G>A (p.Val377Ile) c.1054G>A (p.Val352Ile) c.847G>A (p.Val283Ile) | gnomAD v4 |
8 | g.144414283A>C | CA463449594 | SLC39A4 | c.1128T>G (p.Ala376=) c.1053T>G (p.Ala351=) c.846T>G (p.Ala282=) | ClinVar dbSNP |
8 | g.144414283A>G | CA463449595 | SLC39A4 | c.1128T>C (p.Ala376=) c.1053T>C (p.Ala351=) c.846T>C (p.Ala282=) | |
8 | g.144414283A>T | CA463449596 | SLC39A4 | c.1128T>A (p.Ala376=) c.1053T>A (p.Ala351=) c.846T>A (p.Ala282=) | |
8 | g.144414284G>A | CA372621117 | SLC39A4 | c.1127C>T (p.Ala376Val) c.1052C>T (p.Ala351Val) c.845C>T (p.Ala282Val) | gnomAD v4 |
8 | g.144414284G>C | CA372621118 | SLC39A4 | c.1127C>G (p.Ala376Gly) c.1052C>G (p.Ala351Gly) c.845C>G (p.Ala282Gly) | |
8 | g.144414284G>T | CA372621119 | SLC39A4 | c.1127C>A (p.Ala376Asp) c.1052C>A (p.Ala351Asp) c.845C>A (p.Ala282Asp) | |
8 | g.144414285C>A | CA4941392 | SLC39A4 | c.1126G>T (p.Ala376Ser) c.1051G>T (p.Ala351Ser) c.844G>T (p.Ala282Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414285C= | CA1826307068 | SLC39A4 | c.1126G= (p.Ala376=) c.1051G= (p.Ala351=) c.844G= (p.Ala282=) | |
8 | g.144414285C>G | CA372621120 | SLC39A4 | c.1126G>C (p.Ala376Pro) c.1051G>C (p.Ala351Pro) c.844G>C (p.Ala282Pro) | |
8 | g.144414285C>T | CA4941391 | SLC39A4 | c.1126G>A (p.Ala376Thr) c.1051G>A (p.Ala351Thr) c.844G>A (p.Ala282Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414286G>A | CA4941393 | SLC39A4 | c.1125C>T (p.Asp375=) c.1050C>T (p.Asp350=) c.843C>T (p.Asp281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414286G>C | CA372621122 | SLC39A4 | c.1125C>G (p.Asp375Glu) c.1050C>G (p.Asp350Glu) c.843C>G (p.Asp281Glu) | |
8 | g.144414286G= | CA1826307069 | SLC39A4 | c.1125C= (p.Asp375=) c.1050C= (p.Asp350=) c.843C= (p.Asp281=) | |
8 | g.144414286G>T | CA372621121 | SLC39A4 | c.1125C>A (p.Asp375Glu) c.1050C>A (p.Asp350Glu) c.843C>A (p.Asp281Glu) | |
8 | g.144414287T>A | CA372621125 | SLC39A4 | c.1124A>T (p.Asp375Val) c.1049A>T (p.Asp350Val) c.842A>T (p.Asp281Val) | |
8 | g.144414287T>C | CA372621123 | SLC39A4 | c.1124A>G (p.Asp375Gly) c.1049A>G (p.Asp350Gly) c.842A>G (p.Asp281Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414287T>G | CA372621124 | SLC39A4 | c.1124A>C (p.Asp375Ala) c.1049A>C (p.Asp350Ala) c.842A>C (p.Asp281Ala) | |
8 | g.144414287T= | CA1826307070 | SLC39A4 | c.1124A= (p.Asp375=) c.1049A= (p.Asp350=) c.842A= (p.Asp281=) | |
8 | g.144414288C>A | CA372621126 | SLC39A4 | c.1123G>T (p.Asp375Tyr) c.1048G>T (p.Asp350Tyr) c.841G>T (p.Asp281Tyr) | dbSNP gnomAD v2 |
8 | g.144414288C= | CA1826307071 | SLC39A4 | c.1123G= (p.Asp375=) c.1048G= (p.Asp350=) c.841G= (p.Asp281=) | |
8 | g.144414288C>G | CA4941395 | SLC39A4 | c.1123G>C (p.Asp375His) c.1048G>C (p.Asp350His) c.841G>C (p.Asp281His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414288C>T | CA4941394 | SLC39A4 | c.1123G>A (p.Asp375Asn) c.1048G>A (p.Asp350Asn) c.841G>A (p.Asp281Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414291del | CA2689098465 | SLC39A4 | c.1123del (p.Asp375ThrfsTer6) c.1048del (p.Asp350ThrfsTer6) c.841del (p.Asp281ThrfsTer6) | gnomAD v4 |
8 | g.144414289C>A | CA463449600 | SLC39A4 | c.1122G>T (p.Gly374=) c.1047G>T (p.Gly349=) c.840G>T (p.Gly280=) | |
8 | g.144414289C= | CA1826307072 | SLC39A4 | c.1122G= (p.Gly374=) c.1047G= (p.Gly349=) c.840G= (p.Gly280=) | |
8 | g.144414289C>G | CA4941397 | SLC39A4 | c.1122G>C (p.Gly374=) c.1047G>C (p.Gly349=) c.840G>C (p.Gly280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414289C>T | CA4941396 | SLC39A4 | c.1122G>A (p.Gly374=) c.1047G>A (p.Gly349=) c.840G>A (p.Gly280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414290C>A | CA372621127 | SLC39A4 | c.1121G>T (p.Gly374Val) c.1046G>T (p.Gly349Val) c.839G>T (p.Gly280Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414290C= | CA1826307073 | SLC39A4 | c.1121G= (p.Gly374=) c.1046G= (p.Gly349=) c.839G= (p.Gly280=) | |
8 | g.144414290C>G | CA372621128 | SLC39A4 | c.1121G>C (p.Gly374Ala) c.1046G>C (p.Gly349Ala) c.839G>C (p.Gly280Ala) | dbSNP |
8 | g.144414290C>T | CA372621129 | SLC39A4 | c.1121G>A (p.Gly374Glu) c.1046G>A (p.Gly349Glu) c.839G>A (p.Gly280Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414291C>A | CA372621130 | SLC39A4 | c.1120G>T (p.Gly374Trp) c.1045G>T (p.Gly349Trp) c.838G>T (p.Gly280Trp) | |
8 | g.144414291C= | CA1826307074 | SLC39A4 | c.1120G= (p.Gly374=) c.1045G= (p.Gly349=) c.838G= (p.Gly280=) | |
8 | g.144414291C>G | CA372621131 | SLC39A4 | c.1120G>C (p.Gly374Arg) c.1045G>C (p.Gly349Arg) c.838G>C (p.Gly280Arg) | |
8 | g.144414291C>T | CA116333 | SLC39A4 | c.1120G>A (p.Gly374Arg) c.1045G>A (p.Gly349Arg) c.838G>A (p.Gly280Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414292A>C | CA463449601 | SLC39A4 | c.1119T>G (p.Thr373=) c.1044T>G (p.Thr348=) c.837T>G (p.Thr279=) | |
8 | g.144414292A>G | CA463449602 | SLC39A4 | c.1119T>C (p.Thr373=) c.1044T>C (p.Thr348=) c.837T>C (p.Thr279=) | |
8 | g.144414292A>T | CA463449603 | SLC39A4 | c.1119T>A (p.Thr373=) c.1044T>A (p.Thr348=) c.837T>A (p.Thr279=) | |
8 | g.144414293G>A | CA372621133 | SLC39A4 | c.1118C>T (p.Thr373Ile) c.1043C>T (p.Thr348Ile) c.836C>T (p.Thr279Ile) | ClinVar |
8 | g.144414293G>C | CA4941398 | SLC39A4 | c.1118C>G (p.Thr373Ser) c.1043C>G (p.Thr348Ser) c.836C>G (p.Thr279Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414293G= | CA1826307075 | SLC39A4 | c.1118C= (p.Thr373=) c.1043C= (p.Thr348=) c.836C= (p.Thr279=) | |
8 | g.144414293G>T | CA372621132 | SLC39A4 | c.1118C>A (p.Thr373Asn) c.1043C>A (p.Thr348Asn) c.836C>A (p.Thr279Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414294T>A | CA372621134 | SLC39A4 | c.1117A>T (p.Thr373Ser) c.1042A>T (p.Thr348Ser) c.835A>T (p.Thr279Ser) | gnomAD v4 |
8 | g.144414294T>C | CA372621135 | SLC39A4 | c.1117A>G (p.Thr373Ala) c.1042A>G (p.Thr348Ala) c.835A>G (p.Thr279Ala) | dbSNP gnomAD v4 |
8 | g.144414294T>G | CA372621136 | SLC39A4 | c.1117A>C (p.Thr373Pro) c.1042A>C (p.Thr348Pro) c.835A>C (p.Thr279Pro) | |
8 | g.144414295G>A | CA463449605 | SLC39A4 | c.1116C>T (p.Val372=) c.1041C>T (p.Val347=) c.1041C>T (p.Leu347=) c.1116C>T (p.Leu372=) c.834C>T (p.Val278=) | gnomAD v4 |
8 | g.144414295G>C | CA463449606 | SLC39A4 | c.1116C>G (p.Val372=) c.1041C>G (p.Val347=) c.1041C>G (p.Leu347=) c.1116C>G (p.Leu372=) c.834C>G (p.Val278=) | ClinVar |
8 | g.144414295G>T | CA463449607 | SLC39A4 | c.1116C>A (p.Val372=) c.1041C>A (p.Val347=) c.1041C>A (p.Leu347=) c.1116C>A (p.Leu372=) c.834C>A (p.Val278=) | |
8 | g.144414296A>C | CA372621137 | SLC39A4 | c.1115T>G (p.Val372Gly) c.1040T>G (p.Val347Gly) c.1040T>G (p.Leu347Arg) c.1115T>G (p.Leu372Arg) c.833T>G (p.Val278Gly) | |
8 | g.144414296A>G | CA372621138 | SLC39A4 | c.1115T>C (p.Val372Ala) c.1040T>C (p.Val347Ala) c.1040T>C (p.Leu347Pro) c.1115T>C (p.Leu372Pro) c.833T>C (p.Val278Ala) | gnomAD v4 |
8 | g.144414296A>T | CA372621139 | SLC39A4 | c.1115T>A (p.Val372Asp) c.1040T>A (p.Val347Asp) c.1040T>A (p.Leu347His) c.1115T>A (p.Leu372His) c.833T>A (p.Val278Asp) | |
8 | g.144414297del | CA2689098480 | SLC39A4 | c.1114del (p.Val372SerfsTer9) c.1039del (p.Val347SerfsTer9) c.832del (p.Val278SerfsTer9) | gnomAD v4 |
8 | g.144414297C>A | CA372621140 | SLC39A4 | c.1114G>T (p.Val372Phe) c.1039G>T (p.Val347Phe) c.832G>T (p.Val278Phe) | |
8 | g.144414297C= | CA4941399 | SLC39A4 | c.1114G= (p.Val372=) c.1039G= (p.Val347=) c.832G= (p.Val278=) | |
8 | g.144414297C>G | CA187648143 | SLC39A4 | c.1114G>C (p.Val372Leu) c.1039G>C (p.Val347Leu) c.832G>C (p.Val278Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414297C>T | CA372621141 | SLC39A4 | c.1114G>A (p.Val372Ile) c.1039G>A (p.Val347Ile) c.832G>A (p.Val278Ile) | gnomAD v4 |
8 | g.144414297delinsGTGCACCCACAGGACAGCGTCCCCAGTGAG | CA2697550211 | SLC39A4 | c.1114delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC (p.Val372LeufsTer19) c.1039delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC (p.Val347LeufsTer19) c.832delinsCTCACTGGGGACGCTGTCCTGTGGGTGCAC (p.Val278LeufsTer19) | ClinVar |
8 | g.144414298T>A | CA463449609 | SLC39A4 | c.1113A>T (p.Ala371=) c.1038A>T (p.Ala346=) c.831A>T (p.Ala277=) | |
8 | g.144414298T>C | CA4941400 | SLC39A4 | c.1113A>G (p.Ala371=) c.1038A>G (p.Ala346=) c.831A>G (p.Ala277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414298T>G | CA463449608 | SLC39A4 | c.1113A>C (p.Ala371=) c.1038A>C (p.Ala346=) c.831A>C (p.Ala277=) | gnomAD v4 |
8 | g.144414298T= | CA1826307076 | SLC39A4 | c.1113A= (p.Ala371=) c.1038A= (p.Ala346=) c.831A= (p.Ala277=) | |
8 | g.144414299G>A | CA372621142 | SLC39A4 | c.1112C>T (p.Ala371Val) c.1037C>T (p.Ala346Val) c.830C>T (p.Ala277Val) | gnomAD v4 |
8 | g.144414299G>C | CA372621143 | SLC39A4 | c.1112C>G (p.Ala371Gly) c.1037C>G (p.Ala346Gly) c.830C>G (p.Ala277Gly) | |
8 | g.144414299G>T | CA372621144 | SLC39A4 | c.1112C>A (p.Ala371Glu) c.1037C>A (p.Ala346Glu) c.830C>A (p.Ala277Glu) | gnomAD v4 |
8 | g.144414300C>A | CA372621146 | SLC39A4 | c.1111G>T (p.Ala371Ser) c.1036G>T (p.Ala346Ser) c.829G>T (p.Ala277Ser) | gnomAD v4 |
8 | g.144414300C= | CA1826307077 | SLC39A4 | c.1111G= (p.Ala371=) c.1036G= (p.Ala346=) c.829G= (p.Ala277=) | |
8 | g.144414300C>G | CA372621147 | SLC39A4 | c.1111G>C (p.Ala371Pro) c.1036G>C (p.Ala346Pro) c.829G>C (p.Ala277Pro) | |
8 | g.144414300C>T | CA372621145 | SLC39A4 | c.1111G>A (p.Ala371Thr) c.1036G>A (p.Ala346Thr) c.829G>A (p.Ala277Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414301A= | CA1826307079 | SLC39A4 | c.1110T= (p.Gly370=) c.1035T= (p.Gly345=) c.828T= (p.Gly276=) | |
8 | g.144414301A>C | CA463449611 | SLC39A4 | c.1110T>G (p.Gly370=) c.1035T>G (p.Gly345=) c.828T>G (p.Gly276=) | |
8 | g.144414301A>G | CA463449612 | SLC39A4 | c.1110T>C (p.Gly370=) c.1035T>C (p.Gly345=) c.828T>C (p.Gly276=) | ClinVar dbSNP gnomAD v4 |
8 | g.144414301A>T | CA463449613 | SLC39A4 | c.1110T>A (p.Gly370=) c.1035T>A (p.Gly345=) c.828T>A (p.Gly276=) | |
8 | g.144414301_144414302delinsAC | CA1826307078 | SLC39A4 | c.1109_1110delinsGT (p.Gly370=) c.1034_1035delinsGT (p.Gly345=) c.827_828delinsGT (p.Gly276=) | |
8 | g.144414302C>A | CA372621148 | SLC39A4 | c.1109G>T (p.Gly370Val) c.1034G>T (p.Gly345Val) c.827G>T (p.Gly276Val) | gnomAD v4 |
8 | g.144414302C>G | CA372621149 | SLC39A4 | c.1109G>C (p.Gly370Ala) c.1034G>C (p.Gly345Ala) c.827G>C (p.Gly276Ala) | gnomAD v4 |
8 | g.144414302C>T | CA372621150 | SLC39A4 | c.1109G>A (p.Gly370Asp) c.1034G>A (p.Gly345Asp) c.827G>A (p.Gly276Asp) | gnomAD v4 |
8 | g.144414304dup | CA848876266 | SLC39A4 | c.1109dup (p.Ala371CysfsTer?) c.1034dup (p.Ala346CysfsTer?) c.827dup (p.Ala277CysfsTer?) | dbSNP |
8 | g.144414304del | CA586164230 | SLC39A4 | c.1109del (p.Gly370ValfsTer11) c.1034del (p.Gly345ValfsTer11) c.827del (p.Gly276ValfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414303C>A | CA372621151 | SLC39A4 | c.1108G>T (p.Gly370Cys) c.1033G>T (p.Gly345Cys) c.826G>T (p.Gly276Cys) | gnomAD v4 |
8 | g.144414303C>G | CA372621152 | SLC39A4 | c.1108G>C (p.Gly370Arg) c.1033G>C (p.Gly345Arg) c.826G>C (p.Gly276Arg) | |
8 | g.144414303C>T | CA372621153 | SLC39A4 | c.1108G>A (p.Gly370Ser) c.1033G>A (p.Gly345Ser) c.826G>A (p.Gly276Ser) | gnomAD v4 |
8 | g.144414304C>A | CA463449614 | SLC39A4 | c.1107G>T (p.Val369=) c.1032G>T (p.Val344=) c.825G>T (p.Val275=) | gnomAD v4 |
8 | g.144414304C= | CA1826307080 | SLC39A4 | c.1107G= (p.Val369=) c.1032G= (p.Val344=) c.825G= (p.Val275=) | |
8 | g.144414304C>G | CA463449615 | SLC39A4 | c.1107G>C (p.Val369=) c.1032G>C (p.Val344=) c.825G>C (p.Val275=) | |
8 | g.144414304C>T | CA4941401 | SLC39A4 | c.1107G>A (p.Val369=) c.1032G>A (p.Val344=) c.825G>A (p.Val275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414305A= | CA1826307081 | SLC39A4 | c.1106T= (p.Val369=) c.1031T= (p.Val344=) c.824T= (p.Val275=) | |
8 | g.144414305A>C | CA372621154 | SLC39A4 | c.1106T>G (p.Val369Gly) c.1031T>G (p.Val344Gly) c.824T>G (p.Val275Gly) | |
8 | g.144414305A>G | CA372621155 | SLC39A4 | c.1106T>C (p.Val369Ala) c.1031T>C (p.Val344Ala) c.824T>C (p.Val275Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414305A>T | CA372621156 | SLC39A4 | c.1106T>A (p.Val369Glu) c.1031T>A (p.Val344Glu) c.824T>A (p.Val275Glu) | |
8 | g.144414306C>A | CA372621157 | SLC39A4 | c.1105G>T (p.Val369Leu) c.1030G>T (p.Val344Leu) c.823G>T (p.Val275Leu) | |
8 | g.144414306C>G | CA372621158 | SLC39A4 | c.1105G>C (p.Val369Leu) c.1030G>C (p.Val344Leu) c.823G>C (p.Val275Leu) | |
8 | g.144414306C>T | CA372621159 | SLC39A4 | c.1105G>A (p.Val369Met) c.1030G>A (p.Val344Met) c.823G>A (p.Val275Met) | gnomAD v4 |
8 | g.144414307T>A | CA463449622 | SLC39A4 | c.1104A>T (p.Ala368=) c.1029A>T (p.Ala343=) c.822A>T (p.Ala274=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414307T>C | CA463449621 | SLC39A4 | c.1104A>G (p.Ala368=) c.1029A>G (p.Ala343=) c.822A>G (p.Ala274=) | |
8 | g.144414307T>G | CA463449620 | SLC39A4 | c.1104A>C (p.Ala368=) c.1029A>C (p.Ala343=) c.822A>C (p.Ala274=) | |
8 | g.144414307T= | CA1826307082 | SLC39A4 | c.1104A= (p.Ala368=) c.1029A= (p.Ala343=) c.822A= (p.Ala274=) | |
8 | g.144414308G>A | CA4941402 | SLC39A4 | c.1103C>T (p.Ala368Val) c.1028C>T (p.Ala343Val) c.821C>T (p.Ala274Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414308G>C | CA372621161 | SLC39A4 | c.1103C>G (p.Ala368Gly) c.1028C>G (p.Ala343Gly) c.821C>G (p.Ala274Gly) | |
8 | g.144414308G= | CA1826307083 | SLC39A4 | c.1103C= (p.Ala368=) c.1028C= (p.Ala343=) c.821C= (p.Ala274=) | |
8 | g.144414308G>T | CA372621160 | SLC39A4 | c.1103C>A (p.Ala368Glu) c.1028C>A (p.Ala343Glu) c.821C>A (p.Ala274Glu) | gnomAD v4 |
8 | g.144414309C>A | CA372621162 | SLC39A4 | c.1102G>T (p.Ala368Ser) c.1027G>T (p.Ala343Ser) c.820G>T (p.Ala274Ser) | gnomAD v4 |
8 | g.144414309C>G | CA372621163 | SLC39A4 | c.1102G>C (p.Ala368Pro) c.1027G>C (p.Ala343Pro) c.820G>C (p.Ala274Pro) | |
8 | g.144414309C>T | CA372621164 | SLC39A4 | c.1102G>A (p.Ala368Thr) c.1027G>A (p.Ala343Thr) c.820G>A (p.Ala274Thr) | gnomAD v4 |
8 | g.144414310C>A | CA463449623 | SLC39A4 | c.1101G>T (p.Leu367=) c.1026G>T (p.Leu342=) c.819G>T (p.Leu273=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414310C= | CA1826307084 | SLC39A4 | c.1101G= (p.Leu367=) c.1026G= (p.Leu342=) c.819G= (p.Leu273=) | |
8 | g.144414310C>G | CA463449624 | SLC39A4 | c.1101G>C (p.Leu367=) c.1026G>C (p.Leu342=) c.819G>C (p.Leu273=) | |
8 | g.144414310C>T | CA4941403 | SLC39A4 | c.1101G>A (p.Leu367=) c.1026G>A (p.Leu342=) c.819G>A (p.Leu273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414311A>C | CA372621165 | SLC39A4 | c.1100T>G (p.Leu367Arg) c.1025T>G (p.Leu342Arg) c.818T>G (p.Leu273Arg) | |
8 | g.144414311A>G | CA372621166 | SLC39A4 | c.1100T>C (p.Leu367Pro) c.1025T>C (p.Leu342Pro) c.818T>C (p.Leu273Pro) | |
8 | g.144414311A>T | CA372621167 | SLC39A4 | c.1100T>A (p.Leu367Gln) c.1025T>A (p.Leu342Gln) c.818T>A (p.Leu273Gln) | |
8 | g.144414312G>A | CA463449625 | SLC39A4 | c.1099C>T (p.Leu367=) c.1024C>T (p.Leu342=) c.817C>T (p.Leu273=) | |
8 | g.144414312G>C | CA372621168 | SLC39A4 | c.1099C>G (p.Leu367Val) c.1024C>G (p.Leu342Val) c.817C>G (p.Leu273Val) | |
8 | g.144414312G>T | CA372621169 | SLC39A4 | c.1099C>A (p.Leu367Met) c.1024C>A (p.Leu342Met) c.817C>A (p.Leu273Met) | |
8 | g.144414313G>A | CA463449626 | SLC39A4 | c.1098C>T (p.Ser366=) c.1023C>T (p.Ser341=) c.816C>T (p.Ser272=) | gnomAD v4 |
8 | g.144414313G>C | CA372621170 | SLC39A4 | c.1098C>G (p.Ser366Arg) c.1023C>G (p.Ser341Arg) c.816C>G (p.Ser272Arg) | gnomAD v4 |
8 | g.144414313G>T | CA372621171 | SLC39A4 | c.1098C>A (p.Ser366Arg) c.1023C>A (p.Ser341Arg) c.816C>A (p.Ser272Arg) | COSMIC COSMIC |
8 | g.144414314C>A | CA372621173 | SLC39A4 | c.1097G>T (p.Ser366Ile) c.1022G>T (p.Ser341Ile) c.815G>T (p.Ser272Ile) | |
8 | g.144414314C= | CA1826307085 | SLC39A4 | c.1097G= (p.Ser366=) c.1022G= (p.Ser341=) c.815G= (p.Ser272=) | |
8 | g.144414314C>G | CA372621174 | SLC39A4 | c.1097G>C (p.Ser366Thr) c.1022G>C (p.Ser341Thr) c.815G>C (p.Ser272Thr) | |
8 | g.144414314C>T | CA372621172 | SLC39A4 | c.1097G>A (p.Ser366Asn) c.1022G>A (p.Ser341Asn) c.815G>A (p.Ser272Asn) | dbSNP gnomAD v4 |
8 | g.144414315T>A | CA372621175 | SLC39A4 | c.1096A>T (p.Ser366Cys) c.1021A>T (p.Ser341Cys) c.814A>T (p.Ser272Cys) | |
8 | g.144414315T>C | CA372621176 | SLC39A4 | c.1096A>G (p.Ser366Gly) c.1021A>G (p.Ser341Gly) c.814A>G (p.Ser272Gly) | |
8 | g.144414315T>G | CA372621177 | SLC39A4 | c.1096A>C (p.Ser366Arg) c.1021A>C (p.Ser341Arg) c.814A>C (p.Ser272Arg) | |
8 | g.144414316C>A | CA463449631 | SLC39A4 | c.1095G>T (p.Leu365=) c.1020G>T (p.Leu340=) c.813G>T (p.Leu271=) | |
8 | g.144414316C>G | CA463449632 | SLC39A4 | c.1095G>C (p.Leu365=) c.1020G>C (p.Leu340=) c.813G>C (p.Leu271=) | |
8 | g.144414316C>T | CA463449633 | SLC39A4 | c.1095G>A (p.Leu365=) c.1020G>A (p.Leu340=) c.813G>A (p.Leu271=) | gnomAD v4 |
8 | g.144414321_144414332del | CA2689098548 | SLC39A4 | c.1084_1095del (p.Gln362_Leu365del) c.1009_1020del (p.Gln337_Leu340del) c.802_813del (p.Gln268_Leu271del) | gnomAD v4 |
8 | g.144414317A>C | CA372621178 | SLC39A4 | c.1094T>G (p.Leu365Arg) c.1019T>G (p.Leu340Arg) c.812T>G (p.Leu271Arg) | |
8 | g.144414317A>G | CA372621179 | SLC39A4 | c.1094T>C (p.Leu365Pro) c.1019T>C (p.Leu340Pro) c.812T>C (p.Leu271Pro) | gnomAD v4 |
8 | g.144414317A>T | CA372621180 | SLC39A4 | c.1094T>A (p.Leu365Gln) c.1019T>A (p.Leu340Gln) c.812T>A (p.Leu271Gln) | |
8 | g.144414318G>A | CA463449634 | SLC39A4 | c.1093C>T (p.Leu365=) c.1018C>T (p.Leu340=) c.811C>T (p.Leu271=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414318G>C | CA372621181 | SLC39A4 | c.1093C>G (p.Leu365Val) c.1018C>G (p.Leu340Val) c.811C>G (p.Leu271Val) | |
8 | g.144414318G= | CA1826307086 | SLC39A4 | c.1093C= (p.Leu365=) c.1018C= (p.Leu340=) c.811C= (p.Leu271=) | |
8 | g.144414318G>T | CA372621182 | SLC39A4 | c.1093C>A (p.Leu365Met) c.1018C>A (p.Leu340Met) c.811C>A (p.Leu271Met) | gnomAD v4 |
8 | g.144414319G>A | CA463449635 | SLC39A4 | c.1092C>T (p.Phe364=) c.1017C>T (p.Phe339=) c.810C>T (p.Phe270=) | |
8 | g.144414319G>C | CA372621183 | SLC39A4 | c.1092C>G (p.Phe364Leu) c.1017C>G (p.Phe339Leu) c.810C>G (p.Phe270Leu) | |
8 | g.144414319G>T | CA372621184 | SLC39A4 | c.1092C>A (p.Phe364Leu) c.1017C>A (p.Phe339Leu) c.810C>A (p.Phe270Leu) | |
8 | g.144414320A>C | CA372621185 | SLC39A4 | c.1091T>G (p.Phe364Cys) c.1016T>G (p.Phe339Cys) c.809T>G (p.Phe270Cys) | |
8 | g.144414320A>G | CA372621186 | SLC39A4 | c.1091T>C (p.Phe364Ser) c.1016T>C (p.Phe339Ser) c.809T>C (p.Phe270Ser) | |
8 | g.144414320A>T | CA372621187 | SLC39A4 | c.1091T>A (p.Phe364Tyr) c.1016T>A (p.Phe339Tyr) c.809T>A (p.Phe270Tyr) | |
8 | g.144414321A= | CA1826307087 | SLC39A4 | c.1090T= (p.Phe364=) c.1015T= (p.Phe339=) c.808T= (p.Phe270=) | |
8 | g.144414321A>C | CA372621190 | SLC39A4 | c.1090T>G (p.Phe364Val) c.1015T>G (p.Phe339Val) c.808T>G (p.Phe270Val) | |
8 | g.144414321A>G | CA372621189 | SLC39A4 | c.1090T>C (p.Phe364Leu) c.1015T>C (p.Phe339Leu) c.808T>C (p.Phe270Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414321A>T | CA372621188 | SLC39A4 | c.1090T>A (p.Phe364Ile) c.1015T>A (p.Phe339Ile) c.808T>A (p.Phe270Ile) | |
8 | g.144414322G>A | CA4941404 | SLC39A4 | c.1089C>T (p.Thr363=) c.1014C>T (p.Thr338=) c.807C>T (p.Thr269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414322G>C | CA463449640 | SLC39A4 | c.1089C>G (p.Thr363=) c.1014C>G (p.Thr338=) c.807C>G (p.Thr269=) | |
8 | g.144414322G= | CA1826307088 | SLC39A4 | c.1089C= (p.Thr363=) c.1014C= (p.Thr338=) c.807C= (p.Thr269=) | |
8 | g.144414322G>T | CA463449639 | SLC39A4 | c.1089C>A (p.Thr363=) c.1014C>A (p.Thr338=) c.807C>A (p.Thr269=) | gnomAD v4 |
8 | g.144414323dup | CA1139660828 | SLC39A4 | c.1089dup (p.Phe364LeufsTer?) c.1014dup (p.Phe339LeufsTer?) c.807dup (p.Phe270LeufsTer?) | ClinVar dbSNP |
8 | g.144414323G>A | CA372621191 | SLC39A4 | c.1088C>T (p.Thr363Ile) c.1013C>T (p.Thr338Ile) c.806C>T (p.Thr269Ile) | dbSNP |
8 | g.144414323G>C | CA372621192 | SLC39A4 | c.1088C>G (p.Thr363Ser) c.1013C>G (p.Thr338Ser) c.806C>G (p.Thr269Ser) | dbSNP gnomAD v4 |
8 | g.144414323G= | CA1826307089 | SLC39A4 | c.1088C= (p.Thr363=) c.1013C= (p.Thr338=) c.806C= (p.Thr269=) | |
8 | g.144414323G>T | CA372621193 | SLC39A4 | c.1088C>A (p.Thr363Asn) c.1013C>A (p.Thr338Asn) c.806C>A (p.Thr269Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414324T>A | CA372621194 | SLC39A4 | c.1087A>T (p.Thr363Ser) c.1012A>T (p.Thr338Ser) c.805A>T (p.Thr269Ser) | gnomAD v4 |
8 | g.144414324T>C | CA372621195 | SLC39A4 | c.1087A>G (p.Thr363Ala) c.1012A>G (p.Thr338Ala) c.805A>G (p.Thr269Ala) | |
8 | g.144414324T>G | CA372621196 | SLC39A4 | c.1087A>C (p.Thr363Pro) c.1012A>C (p.Thr338Pro) c.805A>C (p.Thr269Pro) | |
8 | g.144414325C>A | CA372621197 | SLC39A4 | c.1086G>T (p.Gln362His) c.1011G>T (p.Gln337His) c.804G>T (p.Gln268His) | gnomAD v4 |
8 | g.144414325C>G | CA372621198 | SLC39A4 | c.1086G>C (p.Gln362His) c.1011G>C (p.Gln337His) c.804G>C (p.Gln268His) | |
8 | g.144414325C>T | CA463449641 | SLC39A4 | c.1086G>A (p.Gln362=) c.1011G>A (p.Gln337=) c.804G>A (p.Gln268=) | gnomAD v4 |
8 | g.144414326T>A | CA372621199 | SLC39A4 | c.1085A>T (p.Gln362Leu) c.1010A>T (p.Gln337Leu) c.803A>T (p.Gln268Leu) | |
8 | g.144414326T>C | CA372621200 | SLC39A4 | c.1085A>G (p.Gln362Arg) c.1010A>G (p.Gln337Arg) c.803A>G (p.Gln268Arg) | gnomAD v4 |
8 | g.144414326T>G | CA372621201 | SLC39A4 | c.1085A>C (p.Gln362Pro) c.1010A>C (p.Gln337Pro) c.803A>C (p.Gln268Pro) | |
8 | g.144414327G>A | CA372621202 | SLC39A4 | c.1084C>T (p.Gln362Ter) c.1009C>T (p.Gln337Ter) c.802C>T (p.Gln268Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414327G>C | CA372621203 | SLC39A4 | c.1084C>G (p.Gln362Glu) c.1009C>G (p.Gln337Glu) c.802C>G (p.Gln268Glu) | |
8 | g.144414327G= | CA1826307090 | SLC39A4 | c.1084C= (p.Gln362=) c.1009C= (p.Gln337=) c.802C= (p.Gln268=) | |
8 | g.144414327G>T | CA372621204 | SLC39A4 | c.1084C>A (p.Gln362Lys) c.1009C>A (p.Gln337Lys) c.802C>A (p.Gln268Lys) | |
8 | g.144414328C>A | CA463449642 | SLC39A4 | c.1083G>T (p.Leu361=) c.1008G>T (p.Leu336=) c.801G>T (p.Leu267=) | gnomAD v4 |
8 | g.144414328C>G | CA463449643 | SLC39A4 | c.1083G>C (p.Leu361=) c.1008G>C (p.Leu336=) c.801G>C (p.Leu267=) | |
8 | g.144414328C>T | CA463449644 | SLC39A4 | c.1083G>A (p.Leu361=) c.1008G>A (p.Leu336=) c.801G>A (p.Leu267=) | gnomAD v4 |
8 | g.144414329A>C | CA372621206 | SLC39A4 | c.1082T>G (p.Leu361Arg) c.1007T>G (p.Leu336Arg) c.800T>G (p.Leu267Arg) | |
8 | g.144414329A>G | CA372621207 | SLC39A4 | c.1082T>C (p.Leu361Pro) c.1007T>C (p.Leu336Pro) c.800T>C (p.Leu267Pro) | gnomAD v4 |
8 | g.144414329A>T | CA372621205 | SLC39A4 | c.1082T>A (p.Leu361Gln) c.1007T>A (p.Leu336Gln) c.800T>A (p.Leu267Gln) | gnomAD v4 |
8 | g.144414330G>A | CA463449648 | SLC39A4 | c.1081C>T (p.Leu361=) c.1006C>T (p.Leu336=) c.799C>T (p.Leu267=) | dbSNP gnomAD v4 |
8 | g.144414330G>C | CA372621208 | SLC39A4 | c.1081C>G (p.Leu361Val) c.1006C>G (p.Leu336Val) c.799C>G (p.Leu267Val) | |
8 | g.144414330G= | CA1826307091 | SLC39A4 | c.1081C= (p.Leu361=) c.1006C= (p.Leu336=) c.799C= (p.Leu267=) | |
8 | g.144414330G>T | CA372621209 | SLC39A4 | c.1081C>A (p.Leu361Met) c.1006C>A (p.Leu336Met) c.799C>A (p.Leu267Met) | gnomAD v4 |
8 | g.144414331G>A | CA463449650 | SLC39A4 | c.1080C>T (p.Ile360=) c.1005C>T (p.Ile335=) c.798C>T (p.Ile266=) | ClinVar dbSNP gnomAD v2 |
8 | g.144414331G>C | CA4941405 | SLC39A4 | c.1080C>G (p.Ile360Met) c.1005C>G (p.Ile335Met) c.798C>G (p.Ile266Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414331G= | CA1826307092 | SLC39A4 | c.1080C= (p.Ile360=) c.1005C= (p.Ile335=) c.798C= (p.Ile266=) | |
8 | g.144414331G>T | CA463449649 | SLC39A4 | c.1080C>A (p.Ile360=) c.1005C>A (p.Ile335=) c.798C>A (p.Ile266=) | |
8 | g.144414332A= | CA1826307093 | SLC39A4 | c.1079T= (p.Ile360=) c.1004T= (p.Ile335=) c.797T= (p.Ile266=) | |
8 | g.144414332A>C | CA372621210 | SLC39A4 | c.1079T>G (p.Ile360Ser) c.1004T>G (p.Ile335Ser) c.797T>G (p.Ile266Ser) | |
8 | g.144414332A>G | CA372621211 | SLC39A4 | c.1079T>C (p.Ile360Thr) c.1004T>C (p.Ile335Thr) c.797T>C (p.Ile266Thr) | gnomAD v4 |
8 | g.144414332A>T | CA4941406 | SLC39A4 | c.1079T>A (p.Ile360Asn) c.1004T>A (p.Ile335Asn) c.797T>A (p.Ile266Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414333T>A | CA372621214 | SLC39A4 | c.1078A>T (p.Ile360Phe) c.1003A>T (p.Ile335Phe) c.796A>T (p.Ile266Phe) | gnomAD v4 |
8 | g.144414333T>C | CA372621212 | SLC39A4 | c.1078A>G (p.Ile360Val) c.1003A>G (p.Ile335Val) c.796A>G (p.Ile266Val) | dbSNP gnomAD v4 |
8 | g.144414333T>G | CA372621213 | SLC39A4 | c.1078A>C (p.Ile360Leu) c.1003A>C (p.Ile335Leu) c.796A>C (p.Ile266Leu) | |
8 | g.144414333T= | CA1826307094 | SLC39A4 | c.1078A= (p.Ile360=) c.1003A= (p.Ile335=) c.796A= (p.Ile266=) | |
8 | g.144414334G>A | CA463449651 | SLC39A4 | c.1077C>T (p.Tyr359=) c.1002C>T (p.Tyr334=) c.795C>T (p.Tyr265=) | ClinVar dbSNP gnomAD v4 |
8 | g.144414334G>C | CA372621215 | SLC39A4 | c.1077C>G (p.Tyr359Ter) c.1002C>G (p.Tyr334Ter) c.795C>G (p.Tyr265Ter) | |
8 | g.144414334G= | CA1826307095 | SLC39A4 | c.1077C= (p.Tyr359=) c.1002C= (p.Tyr334=) c.795C= (p.Tyr265=) | |
8 | g.144414334G>T | CA372621216 | SLC39A4 | c.1077C>A (p.Tyr359Ter) c.1002C>A (p.Tyr334Ter) c.795C>A (p.Tyr265Ter) | gnomAD v4 |
8 | g.144414335T>A | CA372621217 | SLC39A4 | c.1076A>T (p.Tyr359Phe) c.1001A>T (p.Tyr334Phe) c.794A>T (p.Tyr265Phe) | |
8 | g.144414335T>C | CA372621218 | SLC39A4 | c.1076A>G (p.Tyr359Cys) c.1001A>G (p.Tyr334Cys) c.794A>G (p.Tyr265Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414335T>G | CA372621219 | SLC39A4 | c.1076A>C (p.Tyr359Ser) c.1001A>C (p.Tyr334Ser) c.794A>C (p.Tyr265Ser) | |
8 | g.144414335T= | CA1826307096 | SLC39A4 | c.1076A= (p.Tyr359=) c.1001A= (p.Tyr334=) c.794A= (p.Tyr265=) | |
8 | g.144414336A>C | CA372621220 | SLC39A4 | c.1075T>G (p.Tyr359Asp) c.1000T>G (p.Tyr334Asp) c.793T>G (p.Tyr265Asp) | |
8 | g.144414336A>G | CA372621222 | SLC39A4 | c.1075T>C (p.Tyr359His) c.1000T>C (p.Tyr334His) c.793T>C (p.Tyr265His) | |
8 | g.144414336A>T | CA372621221 | SLC39A4 | c.1075T>A (p.Tyr359Asn) c.1000T>A (p.Tyr334Asn) c.793T>A (p.Tyr265Asn) | |
8 | g.144414337G>A | CA4941407 | SLC39A4 | c.1074C>T (p.His358=) c.999C>T (p.His333=) c.792C>T (p.His264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414337G>C | CA372621223 | SLC39A4 | c.1074C>G (p.His358Gln) c.999C>G (p.His333Gln) c.792C>G (p.His264Gln) | |
8 | g.144414337G= | CA1826307097 | SLC39A4 | c.1074C= (p.His358=) c.999C= (p.His333=) c.792C= (p.His264=) | |
8 | g.144414337G>T | CA372621224 | SLC39A4 | c.1074C>A (p.His358Gln) c.999C>A (p.His333Gln) c.792C>A (p.His264Gln) | |
8 | g.144414338T>A | CA372621225 | SLC39A4 | c.1073A>T (p.His358Leu) c.998A>T (p.His333Leu) c.791A>T (p.His264Leu) | |
8 | g.144414338T>C | CA372621226 | SLC39A4 | c.1073A>G (p.His358Arg) c.998A>G (p.His333Arg) c.791A>G (p.His264Arg) | dbSNP gnomAD v4 |
8 | g.144414338T>G | CA372621227 | SLC39A4 | c.1073A>C (p.His358Pro) c.998A>C (p.His333Pro) c.791A>C (p.His264Pro) | |
8 | g.144414338T= | CA1826307098 | SLC39A4 | c.1073A= (p.His358=) c.998A= (p.His333=) c.791A= (p.His264=) | |
8 | g.144414339G>A | CA372621228 | SLC39A4 | c.1072C>T (p.His358Tyr) c.997C>T (p.His333Tyr) c.790C>T (p.His264Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414339G>C | CA372621229 | SLC39A4 | c.1072C>G (p.His358Asp) c.997C>G (p.His333Asp) c.790C>G (p.His264Asp) | |
8 | g.144414339G= | CA1826307099 | SLC39A4 | c.1072C= (p.His358=) c.997C= (p.His333=) c.790C= (p.His264=) | |
8 | g.144414339G>T | CA372621230 | SLC39A4 | c.1072C>A (p.His358Asn) c.997C>A (p.His333Asn) c.790C>A (p.His264Asn) | |
8 | g.144414340G>A | CA463449655 | SLC39A4 | c.1071C>T (p.Thr357=) c.996C>T (p.Thr332=) c.789C>T (p.Thr263=) | dbSNP gnomAD v2 |
8 | g.144414340G>C | CA463449657 | SLC39A4 | c.1071C>G (p.Thr357=) c.996C>G (p.Thr332=) c.789C>G (p.Thr263=) | ClinVar gnomAD v4 |
8 | g.144414340G= | CA1826307100 | SLC39A4 | c.1071C= (p.Thr357=) c.996C= (p.Thr332=) c.789C= (p.Thr263=) | |
8 | g.144414340G>T | CA463449656 | SLC39A4 | c.1071C>A (p.Thr357=) c.996C>A (p.Thr332=) c.789C>A (p.Thr263=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414340_144414341insTA | CA2689098692 | SLC39A4 | c.1070_1071insTA (p.His358ThrfsTer9) c.995_996insTA (p.His333ThrfsTer9) c.788_789insTA (p.His264ThrfsTer9) | gnomAD v4 |
8 | g.144414341G>A | CA4941408 | SLC39A4 | c.1070C>T (p.Thr357Ile) c.995C>T (p.Thr332Ile) c.788C>T (p.Thr263Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414341G>C | CA372621231 | SLC39A4 | c.1070C>G (p.Thr357Ser) c.995C>G (p.Thr332Ser) c.788C>G (p.Thr263Ser) | |
8 | g.144414341G= | CA1826307101 | SLC39A4 | c.1070C= (p.Thr357=) c.995C= (p.Thr332=) c.788C= (p.Thr263=) | |
8 | g.144414341G>T | CA372621232 | SLC39A4 | c.1070C>A (p.Thr357Asn) c.995C>A (p.Thr332Asn) c.788C>A (p.Thr263Asn) | |
8 | g.144414342_144414394dup | CA2580078709 | SLC39A4 | c.1018_1070dup (p.His358AlafsTer9) c.943_995dup (p.His333AlafsTer9) c.736_788dup (p.His264AlafsTer9) | ClinVar dbSNP |
8 | g.144414342T>A | CA372621234 | SLC39A4 | c.1069A>T (p.Thr357Ser) c.994A>T (p.Thr332Ser) c.787A>T (p.Thr263Ser) | dbSNP gnomAD v4 |
8 | g.144414342T>C | CA4941409 | SLC39A4 | c.1069A>G (p.Thr357Ala) c.994A>G (p.Thr332Ala) c.787A>G (p.Thr263Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414342T>G | CA372621233 | SLC39A4 | c.1069A>C (p.Thr357Pro) c.994A>C (p.Thr332Pro) c.787A>C (p.Thr263Pro) | |
8 | g.144414342T= | CA1826307102 | SLC39A4 | c.1069A= (p.Thr357=) c.994A= (p.Thr332=) c.787A= (p.Thr263=) | |
8 | g.144414342_144414343delinsCA | CA2499219171 | SLC39A4 | c.1068_1069delinsTG (p.Thr357Ala) c.993_994delinsTG (p.Thr332Ala) c.786_787delinsTG (p.Thr263Ala) | ClinVar |