Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189565582G>A | CA62903062 | SLC40A1 | c.532C>T (p.Arg178Ter) c.412C>T (p.Arg138Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189565582G>C | CA349988988 | SLC40A1 | c.532C>G (p.Arg178Gly) c.412C>G (p.Arg138Gly) | ClinVar dbSNP |
2 | g.189565582G= | CA1315645107 | SLC40A1 | c.532C= (p.Arg178=) c.412C= (p.Arg138=) | |
2 | g.189565582G>T | CA430502843 | SLC40A1 | c.532C>A (p.Arg178=) c.412C>A (p.Arg138=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565583T>A | CA430502845 | SLC40A1 | c.531A>T (p.Ile177=) c.411A>T (p.Ile137=) | |
2 | g.189565583T>C | CA349988989 | SLC40A1 | c.531A>G (p.Ile177Met) c.411A>G (p.Ile137Met) | COSMIC |
2 | g.189565583T>G | CA430502846 | SLC40A1 | c.531A>C (p.Ile177=) c.411A>C (p.Ile137=) | |
2 | g.189565584A>C | CA349988990 | SLC40A1 | c.530T>G (p.Ile177Arg) c.410T>G (p.Ile137Arg) | |
2 | g.189565584A>G | CA349988992 | SLC40A1 | c.530T>C (p.Ile177Thr) c.410T>C (p.Ile137Thr) | |
2 | g.189565584A>T | CA349988991 | SLC40A1 | c.530T>A (p.Ile177Lys) c.410T>A (p.Ile137Lys) | |
2 | g.189565585T>A | CA349988993 | SLC40A1 | c.529A>T (p.Ile177Leu) c.409A>T (p.Ile137Leu) | |
2 | g.189565585T>C | CA349988994 | SLC40A1 | c.529A>G (p.Ile177Val) c.409A>G (p.Ile137Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565585T>G | CA349988995 | SLC40A1 | c.529A>C (p.Ile177Leu) c.409A>C (p.Ile137Leu) | |
2 | g.189565585T= | CA1315645109 | SLC40A1 | c.529A= (p.Ile177=) c.409A= (p.Ile137=) | |
2 | g.189565586T>A | CA430502851 | SLC40A1 | c.528A>T (p.Thr176=) c.408A>T (p.Thr136=) | |
2 | g.189565586T>C | CA2024199 | SLC40A1 | c.528A>G (p.Thr176=) c.408A>G (p.Thr136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565586T>G | CA430502853 | SLC40A1 | c.528A>C (p.Thr176=) c.408A>C (p.Thr136=) | |
2 | g.189565586T= | CA1315645111 | SLC40A1 | c.528A= (p.Thr176=) c.408A= (p.Thr136=) | |
2 | g.189565587G>A | CA349988996 | SLC40A1 | c.527C>T (p.Thr176Ile) c.407C>T (p.Thr136Ile) | |
2 | g.189565587G>C | CA349988997 | SLC40A1 | c.527C>G (p.Thr176Arg) c.407C>G (p.Thr136Arg) | |
2 | g.189565587G>T | CA349988998 | SLC40A1 | c.527C>A (p.Thr176Lys) c.407C>A (p.Thr136Lys) | |
2 | g.189565588T>A | CA349988999 | SLC40A1 | c.526A>T (p.Thr176Ser) c.406A>T (p.Thr136Ser) | |
2 | g.189565588T>C | CA349989001 | SLC40A1 | c.526A>G (p.Thr176Ala) c.406A>G (p.Thr136Ala) | dbSNP gnomAD v2 |
2 | g.189565588T>G | CA349989000 | SLC40A1 | c.526A>C (p.Thr176Pro) c.406A>C (p.Thr136Pro) | |
2 | g.189565588T= | CA1315645116 | SLC40A1 | c.526A= (p.Thr176=) c.406A= (p.Thr136=) | |
2 | g.189565589G>A | CA2024200 | SLC40A1 | c.525C>T (p.Ala175=) c.405C>T (p.Ala135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565589G>C | CA430502859 | SLC40A1 | c.525C>G (p.Ala175=) c.405C>G (p.Ala135=) | dbSNP gnomAD v4 |
2 | g.189565589G= | CA1315645118 | SLC40A1 | c.525C= (p.Ala175=) c.405C= (p.Ala135=) | |
2 | g.189565589G>T | CA430502858 | SLC40A1 | c.525C>A (p.Ala175=) c.405C>A (p.Ala135=) | |
2 | g.189565590G>A | CA349989002 | SLC40A1 | c.524C>T (p.Ala175Val) c.404C>T (p.Ala135Val) | |
2 | g.189565590G>C | CA349989003 | SLC40A1 | c.524C>G (p.Ala175Gly) c.404C>G (p.Ala135Gly) | |
2 | g.189565590G= | CA1315645122 | SLC40A1 | c.524C= (p.Ala175=) c.404C= (p.Ala135=) | |
2 | g.189565590G>T | CA16610617 | SLC40A1 | c.524C>A (p.Ala175Asp) c.404C>A (p.Ala135Asp) | ClinVar dbSNP |
2 | g.189565591C>A | CA349989004 | SLC40A1 | c.523G>T (p.Ala175Ser) c.403G>T (p.Ala135Ser) | gnomAD v4 |
2 | g.189565591C>G | CA349989006 | SLC40A1 | c.523G>C (p.Ala175Pro) c.403G>C (p.Ala135Pro) | |
2 | g.189565591C>T | CA349989005 | SLC40A1 | c.523G>A (p.Ala175Thr) c.403G>A (p.Ala135Thr) | |
2 | g.189565592A>C | CA349989007 | SLC40A1 | c.522T>G (p.Asn174Lys) c.402T>G (p.Asn134Lys) | |
2 | g.189565592A>G | CA430502863 | SLC40A1 | c.522T>C (p.Asn174=) c.402T>C (p.Asn134=) | |
2 | g.189565592A>T | CA349989008 | SLC40A1 | c.522T>A (p.Asn174Lys) c.402T>A (p.Asn134Lys) | |
2 | g.189565593T>A | CA349989009 | SLC40A1 | c.521A>T (p.Asn174Ile) c.401A>T (p.Asn134Ile) | dbSNP |
2 | g.189565593T>C | CA349989010 | SLC40A1 | c.521A>G (p.Asn174Ser) c.401A>G (p.Asn134Ser) | ClinVar dbSNP |
2 | g.189565593T>G | CA349989011 | SLC40A1 | c.521A>C (p.Asn174Thr) c.401A>C (p.Asn134Thr) | |
2 | g.189565593T= | CA1315645128 | SLC40A1 | c.521A= (p.Asn174=) c.401A= (p.Asn134=) | |
2 | g.189565594T>A | CA349989012 | SLC40A1 | c.520A>T (p.Asn174Tyr) c.400A>T (p.Asn134Tyr) | |
2 | g.189565594T>C | CA349989013 | SLC40A1 | c.520A>G (p.Asn174Asp) c.400A>G (p.Asn134Asp) | |
2 | g.189565594T>G | CA349989014 | SLC40A1 | c.520A>C (p.Asn174His) c.400A>C (p.Asn134His) | |
2 | g.189565595C>A | CA349989015 | SLC40A1 | c.519G>T (p.Met173Ile) c.399G>T (p.Met133Ile) | |
2 | g.189565595C>G | CA349989016 | SLC40A1 | c.519G>C (p.Met173Ile) c.399G>C (p.Met133Ile) | |
2 | g.189565595C>T | CA349989017 | SLC40A1 | c.519G>A (p.Met173Ile) c.399G>A (p.Met133Ile) | |
2 | g.189565596A= | CA1315645132 | SLC40A1 | c.518T= (p.Met173=) c.398T= (p.Met133=) | |
2 | g.189565596A>C | CA349989018 | SLC40A1 | c.518T>G (p.Met173Arg) c.398T>G (p.Met133Arg) | |
2 | g.189565596A>G | CA349989020 | SLC40A1 | c.518T>C (p.Met173Thr) c.398T>C (p.Met133Thr) | dbSNP gnomAD v4 |
2 | g.189565596A>T | CA349989019 | SLC40A1 | c.518T>A (p.Met173Lys) c.398T>A (p.Met133Lys) | |
2 | g.189565597T>A | CA349989021 | SLC40A1 | c.517A>T (p.Met173Leu) c.397A>T (p.Met133Leu) | |
2 | g.189565597T>C | CA349989023 | SLC40A1 | c.517A>G (p.Met173Val) c.397A>G (p.Met133Val) | ClinVar dbSNP |
2 | g.189565597T>G | CA349989022 | SLC40A1 | c.517A>C (p.Met173Leu) c.397A>C (p.Met133Leu) | |
2 | g.189565597T= | CA1315645135 | SLC40A1 | c.517A= (p.Met173=) c.397A= (p.Met133=) | |
2 | g.189565598A>C | CA349989024 | SLC40A1 | c.516T>G (p.Asn172Lys) c.396T>G (p.Asn132Lys) | |
2 | g.189565598A>G | CA430502867 | SLC40A1 | c.516T>C (p.Asn172=) c.396T>C (p.Asn132=) | gnomAD v4 |
2 | g.189565598A>T | CA349989025 | SLC40A1 | c.516T>A (p.Asn172Lys) c.396T>A (p.Asn132Lys) | |
2 | g.189565599T>A | CA349989026 | SLC40A1 | c.515A>T (p.Asn172Ile) c.395A>T (p.Asn132Ile) | |
2 | g.189565599T>C | CA349989027 | SLC40A1 | c.515A>G (p.Asn172Ser) c.395A>G (p.Asn132Ser) | dbSNP gnomAD v4 |
2 | g.189565599T>G | CA349989028 | SLC40A1 | c.515A>C (p.Asn172Thr) c.395A>C (p.Asn132Thr) | |
2 | g.189565599_189565600insTTGCTAGTTTGCTTCTGTCTTCTC | CA2701182641 | SLC40A1 | c.515-1_515insGAGAAGACAGAAGCAAACTAGCAA (n.515-1_515insGAGAAGACAGAAGCAAACTAGCAA) c.395-1_395insGAGAAGACAGAAGCAAACTAGCAA (n.395-1_395insGAGAAGACAGAAGCAAACTAGCAA) | dbSNP |
2 | g.189565600C>A | CA349989029 | SLC40A1 | c.515-1G>T (n.515-1G>T) c.395-1G>T (n.395-1G>T) | |
2 | g.189565600C>G | CA349989030 | SLC40A1 | c.515-1G>C (n.515-1G>C) c.395-1G>C (n.395-1G>C) | |
2 | g.189565600C>T | CA349989031 | SLC40A1 | c.515-1G>A (n.515-1G>A) c.395-1G>A (n.395-1G>A) | gnomAD v4 |
2 | g.189565601T>A | CA349989032 | SLC40A1 | c.515-2A>T (n.515-2A>T) c.395-2A>T (n.395-2A>T) | gnomAD v4 |
2 | g.189565601T>C | CA349989033 | SLC40A1 | c.515-2A>G (n.515-2A>G) c.395-2A>G (n.395-2A>G) | |
2 | g.189565601T>G | CA349989034 | SLC40A1 | c.515-2A>C (n.515-2A>C) c.395-2A>C (n.395-2A>C) | |
2 | g.189565602A= | CA1315645138 | SLC40A1 | c.515-3T= (n.515-3T=) c.395-3T= (n.395-3T=) | |
2 | g.189565602A>G | CA1315645141 | SLC40A1 | c.515-3T>C (n.515-3T>C) c.395-3T>C (n.395-3T>C) | dbSNP |
2 | g.189565603G>A | CA2739279009 | SLC40A1 | c.515-4C>T (n.515-4C>T) c.395-4C>T (n.395-4C>T) | ClinVar |
2 | g.189565603G>C | CA2556791360 | SLC40A1 | c.515-4C>G (n.515-4C>G) c.395-4C>G (n.395-4C>G) | |
2 | g.189565603G= | CA1315645143 | SLC40A1 | c.515-4C= (n.515-4C=) c.395-4C= (n.395-4C=) | |
2 | g.189565614_189565626dup | CA538917990 | SLC40A1 | c.515-17_515-5dup (n.515-17_515-5dup) c.395-17_395-5dup (n.395-17_395-5dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565614_189565626del | CA2662329119 | SLC40A1 | c.515-17_515-5del (n.515-17_515-5del) c.395-17_395-5del (n.395-17_395-5del) | gnomAD v4 |
2 | g.189565605G>C | CA2511406554 | SLC40A1 | c.515-6C>G (n.515-6C>G) c.395-6C>G (n.395-6C>G) | |
2 | g.189565607G>A | CA2662329122 | SLC40A1 | c.515-8C>T (n.515-8C>T) c.395-8C>T (n.395-8C>T) | gnomAD v4 |
2 | g.189565607G>C | CA2662329123 | SLC40A1 | c.515-8C>G (n.515-8C>G) c.395-8C>G (n.395-8C>G) | gnomAD v4 |
2 | g.189565608G>A | CA2024201 | SLC40A1 | c.515-9C>T (n.515-9C>T) c.395-9C>T (n.395-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565608G= | CA1315645145 | SLC40A1 | c.515-9C= (n.515-9C=) c.395-9C= (n.395-9C=) | |
2 | g.189565609C>T | CA2556353423 | SLC40A1 | c.515-10G>A (n.515-10G>A) c.395-10G>A (n.395-10G>A) | |
2 | g.189565611G>A | CA2662329128 | SLC40A1 | c.515-12C>T (n.515-12C>T) c.395-12C>T (n.395-12C>T) | gnomAD v4 |
2 | g.189565613T>G | CA2024202 | SLC40A1 | c.515-14A>C (n.515-14A>C) c.395-14A>C (n.395-14A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565613T= | CA1315645146 | SLC40A1 | c.515-14A= (n.515-14A=) c.395-14A= (n.395-14A=) | |
2 | g.189565614G>A | CA62903064 | SLC40A1 | c.515-15C>T (n.515-15C>T) c.395-15C>T (n.395-15C>T) | dbSNP COSMIC |
2 | g.189565614G>C | CA62903063 | SLC40A1 | c.515-15C>G (n.515-15C>G) c.395-15C>G (n.395-15C>G) | dbSNP gnomAD v4 |
2 | g.189565614G= | CA1315645147 | SLC40A1 | c.515-15C= (n.515-15C=) c.395-15C= (n.395-15C=) | |
2 | g.189565614G>T | CA2662329135 | SLC40A1 | c.515-15C>A (n.515-15C>A) c.395-15C>A (n.395-15C>A) | ClinVar gnomAD v4 |
2 | g.189565615A= | CA1315645148 | SLC40A1 | c.515-16T= (n.515-16T=) c.395-16T= (n.395-16T=) | |
2 | g.189565615A>G | CA2024203 | SLC40A1 | c.515-16T>C (n.515-16T>C) c.395-16T>C (n.395-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565617A= | CA1315645149 | SLC40A1 | c.515-18T= (n.515-18T=) c.395-18T= (n.395-18T=) | |
2 | g.189565617A>G | CA762272543 | SLC40A1 | c.515-18T>C (n.515-18T>C) c.395-18T>C (n.395-18T>C) | dbSNP |
2 | g.189565618G>A | CA2662329138 | SLC40A1 | c.515-19C>T (n.515-19C>T) c.395-19C>T (n.395-19C>T) | gnomAD v4 |
2 | g.189565619A= | CA1315645152 | SLC40A1 | c.515-20T= (n.515-20T=) c.395-20T= (n.395-20T=) | |
2 | g.189565619A>G | CA2577188106 | SLC40A1 | c.515-20T>C (n.515-20T>C) c.395-20T>C (n.395-20T>C) | gnomAD v4 |
2 | g.189565619A>T | CA2024204 | SLC40A1 | c.515-20T>A (n.515-20T>A) c.395-20T>A (n.395-20T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565621G>A | CA2577188107 | SLC40A1 | c.515-22C>T (n.515-22C>T) c.395-22C>T (n.395-22C>T) | gnomAD v4 |
2 | g.189565622C>A | CA2510578373 | SLC40A1 | c.515-23G>T (n.515-23G>T) c.395-23G>T (n.395-23G>T) | |
2 | g.189565622C= | CA1315645154 | SLC40A1 | c.515-23G= (n.515-23G=) c.395-23G= (n.395-23G=) | |
2 | g.189565622C>T | CA1040450145 | SLC40A1 | c.515-23G>A (n.515-23G>A) c.395-23G>A (n.395-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565624G>A | CA762272544 | SLC40A1 | c.515-25C>T (n.515-25C>T) c.395-25C>T (n.395-25C>T) | dbSNP gnomAD v4 |
2 | g.189565624G= | CA1315645157 | SLC40A1 | c.515-25C= (n.515-25C=) c.395-25C= (n.395-25C=) | |
2 | g.189565625G>C | CA2024205 | SLC40A1 | c.515-26C>G (n.515-26C>G) c.395-26C>G (n.395-26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565625G= | CA1315645159 | SLC40A1 | c.515-26C= (n.515-26C=) c.395-26C= (n.395-26C=) | |
2 | g.189565625_189565626insCTGCGGGCTCCAGATGAT | CA2740352258 | SLC40A1 | c.515-27_515-26insATCATCTGGAGCCCGCAG (n.515-27_515-26insATCATCTGGAGCCCGCAG) c.395-27_395-26insATCATCTGGAGCCCGCAG (n.395-27_395-26insATCATCTGGAGCCCGCAG) | |
2 | g.189565626T>C | CA62903065 | SLC40A1 | c.515-27A>G (n.515-27A>G) c.395-27A>G (n.395-27A>G) | dbSNP gnomAD v4 |
2 | g.189565626T>G | CA2024206 | SLC40A1 | c.515-27A>C (n.515-27A>C) c.395-27A>C (n.395-27A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565626T= | CA1315645161 | SLC40A1 | c.515-27A= (n.515-27A=) c.395-27A= (n.395-27A=) | |
2 | g.189565627A>C | CA2662329151 | SLC40A1 | c.515-28T>G (n.515-28T>G) c.395-28T>G (n.395-28T>G) | gnomAD v4 |
2 | g.189565628dup | CA2753593863 | SLC40A1 | c.515-28dup (n.515-28dup) c.395-28dup (n.395-28dup) | |
2 | g.189565629G>A | CA762272546 | SLC40A1 | c.515-30C>T (n.515-30C>T) c.395-30C>T (n.395-30C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565629G>C | CA2024207 | SLC40A1 | c.515-30C>G (n.515-30C>G) c.395-30C>G (n.395-30C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565629G= | CA1315645165 | SLC40A1 | c.515-30C= (n.515-30C=) c.395-30C= (n.395-30C=) | |
2 | g.189565630T>A | CA2753593864 | SLC40A1 | c.515-31A>T (n.515-31A>T) c.395-31A>T (n.395-31A>T) | |
2 | g.189565630_189565631insAGGGAACATTAACTCC | CA2740352259 | SLC40A1 | c.515-32_515-31insGGAGTTAATGTTCCCT (n.515-32_515-31insGGAGTTAATGTTCCCT) c.395-32_395-31insGGAGTTAATGTTCCCT (n.395-32_395-31insGGAGTTAATGTTCCCT) | |
2 | g.189565633_189565634del | CA2740352260 | SLC40A1 | c.515-35_515-34del (n.515-35_515-34del) c.395-35_395-34del (n.395-35_395-34del) | |
2 | g.189565634C= | CA1315645169 | SLC40A1 | c.515-35G= (n.515-35G=) c.395-35G= (n.395-35G=) | |
2 | g.189565634C>G | CA1315645170 | SLC40A1 | c.515-35G>C (n.515-35G>C) c.395-35G>C (n.395-35G>C) | dbSNP |
2 | g.189565636A>T | CA2740352261 | SLC40A1 | c.515-37T>A (n.515-37T>A) c.395-37T>A (n.395-37T>A) | |
2 | g.189565637A= | CA1315645172 | SLC40A1 | c.515-38T= (n.515-38T=) c.395-38T= (n.395-38T=) | |
2 | g.189565637A>G | CA2024208 | SLC40A1 | c.515-38T>C (n.515-38T>C) c.395-38T>C (n.395-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189565638C= | CA1315645174 | SLC40A1 | c.515-39G= (n.515-39G=) c.395-39G= (n.395-39G=) | |
2 | g.189565638C>G | CA538917991 | SLC40A1 | c.515-39G>C (n.515-39G>C) c.395-39G>C (n.395-39G>C) | dbSNP gnomAD v2 |
2 | g.189565638C>T | CA762272554 | SLC40A1 | c.515-39G>A (n.515-39G>A) c.395-39G>A (n.395-39G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565639C>A | CA2024209 | SLC40A1 | c.515-40G>T (n.515-40G>T) c.395-40G>T (n.395-40G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565639C= | CA1315645178 | SLC40A1 | c.515-40G= (n.515-40G=) c.395-40G= (n.395-40G=) | |
2 | g.189565640C= | CA1315645180 | SLC40A1 | c.515-41G= (n.515-41G=) c.395-41G= (n.395-41G=) | |
2 | g.189565640C>T | CA2024210 | SLC40A1 | c.515-41G>A (n.515-41G>A) c.395-41G>A (n.395-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565643C= | CA1315645182 | SLC40A1 | c.515-44G= (n.515-44G=) c.395-44G= (n.395-44G=) | |
2 | g.189565643C>G | CA538917992 | SLC40A1 | c.515-44G>C (n.515-44G>C) c.395-44G>C (n.395-44G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565643_189565645delinsCAA | CA1315645183 | SLC40A1 | c.515-46_515-44delinsTTG (n.515-46_515-44delinsTTG) c.395-46_395-44delinsTTG (n.395-46_395-44delinsTTG) | |
2 | g.189565645_189565646del | CA538917993 | SLC40A1 | c.515-46_515-45del (n.515-46_515-45del) c.395-46_395-45del (n.395-46_395-45del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189565647G>C | CA2024211 | SLC40A1 | c.515-48C>G (n.515-48C>G) c.395-48C>G (n.395-48C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565647G= | CA1315645185 | SLC40A1 | c.515-48C= (n.515-48C=) c.395-48C= (n.395-48C=) | |
2 | g.189565647G>T | CA2662329164 | SLC40A1 | c.515-48C>A (n.515-48C>A) c.395-48C>A (n.395-48C>A) | gnomAD v4 |
2 | g.189565649G>A | CA2024212 | SLC40A1 | c.515-50C>T (n.515-50C>T) c.395-50C>T (n.395-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565649G= | CA1315645190 | SLC40A1 | c.515-50C= (n.515-50C=) c.395-50C= (n.395-50C=) | |
2 | g.189565652A= | CA1315645193 | SLC40A1 | c.515-53T= (n.515-53T=) c.395-53T= (n.395-53T=) | |
2 | g.189565652A>C | CA1315645194 | SLC40A1 | c.515-53T>G (n.515-53T>G) c.395-53T>G (n.395-53T>G) | dbSNP gnomAD v4 |
2 | g.189565652A>G | CA2662329166 | SLC40A1 | c.515-53T>C (n.515-53T>C) c.395-53T>C (n.395-53T>C) | gnomAD v4 |
2 | g.189565652A>T | CA1315645195 | SLC40A1 | c.515-53T>A (n.515-53T>A) c.395-53T>A (n.395-53T>A) | dbSNP |
2 | g.189565653C= | CA1315645197 | SLC40A1 | c.515-54G= (n.515-54G=) c.395-54G= (n.395-54G=) | |
2 | g.189565653C>T | CA1315645198 | SLC40A1 | c.515-54G>A (n.515-54G>A) c.395-54G>A (n.395-54G>A) | dbSNP |
2 | g.189565655G>A | CA1315645200 | SLC40A1 | c.515-56C>T (n.515-56C>T) c.395-56C>T (n.395-56C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189565655G= | CA1315645199 | SLC40A1 | c.515-56C= (n.515-56C=) c.395-56C= (n.395-56C=) | |
2 | g.189565655G>T | CA2577188108 | SLC40A1 | c.515-56C>A (n.515-56C>A) c.395-56C>A (n.395-56C>A) | |
2 | g.189565656C>A | CA2662329168 | SLC40A1 | c.515-57G>T (n.515-57G>T) c.395-57G>T (n.395-57G>T) | gnomAD v4 |
2 | g.189565658del | CA2662329167 | SLC40A1 | c.515-57del (n.515-57del) c.395-57del (n.395-57del) | gnomAD v4 |
2 | g.189565657C>A | CA2577188109 | SLC40A1 | c.515-58G>T (n.515-58G>T) c.395-58G>T (n.395-58G>T) | |
2 | g.189565657C>T | CA2662329169 | SLC40A1 | c.515-58G>A (n.515-58G>A) c.395-58G>A (n.395-58G>A) | gnomAD v4 |
2 | g.189565658_189565664del | CA2753593865 | SLC40A1 | c.515-64_515-58del (n.515-64_515-58del) c.395-64_395-58del (n.395-64_395-58del) | |
2 | g.189565658C>A | CA1315645202 | SLC40A1 | c.515-59G>T (n.515-59G>T) c.395-59G>T (n.395-59G>T) | dbSNP |
2 | g.189565658C= | CA1315645204 | SLC40A1 | c.515-59G= (n.515-59G=) c.395-59G= (n.395-59G=) | |
2 | g.189565662T>C | CA2662329171 | SLC40A1 | c.515-63A>G (n.515-63A>G) c.395-63A>G (n.395-63A>G) | gnomAD v4 |
2 | g.189565663A= | CA1315645209 | SLC40A1 | c.515-64T= (n.515-64T=) c.395-64T= (n.395-64T=) | |
2 | g.189565663A>C | CA1315645210 | SLC40A1 | c.515-64T>G (n.515-64T>G) c.395-64T>G (n.395-64T>G) | dbSNP |
2 | g.189565663A>G | CA2662329173 | SLC40A1 | c.515-64T>C (n.515-64T>C) c.395-64T>C (n.395-64T>C) | gnomAD v4 |
2 | g.189565664C= | CA1315645212 | SLC40A1 | c.515-65G= (n.515-65G=) c.395-65G= (n.395-65G=) | |
2 | g.189565664C>T | CA1040450147 | SLC40A1 | c.515-65G>A (n.515-65G>A) c.395-65G>A (n.395-65G>A) | dbSNP gnomAD v4 |
2 | g.189565665A>G | CA2577188110 | SLC40A1 | c.515-66T>C (n.515-66T>C) c.395-66T>C (n.395-66T>C) | |
2 | g.189565666C= | CA1315645214 | SLC40A1 | c.515-67G= (n.515-67G=) c.395-67G= (n.395-67G=) | |
2 | g.189565666C>G | CA2662329179 | SLC40A1 | c.515-67G>C (n.515-67G>C) c.395-67G>C (n.395-67G>C) | gnomAD v4 |
2 | g.189565666C>T | CA62903066 | SLC40A1 | c.515-67G>A (n.515-67G>A) c.395-67G>A (n.395-67G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565669T>A | CA2753593866 | SLC40A1 | c.515-70A>T (n.515-70A>T) c.395-70A>T (n.395-70A>T) | |
2 | g.189565669T>C | CA62903067 | SLC40A1 | c.515-70A>G (n.515-70A>G) c.395-70A>G (n.395-70A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565669T= | CA1315645215 | SLC40A1 | c.515-70A= (n.515-70A=) c.395-70A= (n.395-70A=) | |
2 | g.189565670A= | CA1315645217 | SLC40A1 | c.515-71T= (n.515-71T=) c.395-71T= (n.395-71T=) | |
2 | g.189565670A>G | CA62903068 | SLC40A1 | c.515-71T>C (n.515-71T>C) c.395-71T>C (n.395-71T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565671C>T | CA2662329186 | SLC40A1 | c.515-72G>A (n.515-72G>A) c.395-72G>A (n.395-72G>A) | gnomAD v4 |
2 | g.189565672A= | CA1315645218 | SLC40A1 | c.515-73T= (n.515-73T=) c.395-73T= (n.395-73T=) | |
2 | g.189565672A>G | CA62903069 | SLC40A1 | c.515-73T>C (n.515-73T>C) c.395-73T>C (n.395-73T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189565673A>C | CA2753593867 | SLC40A1 | c.515-74T>G (n.515-74T>G) c.395-74T>G (n.395-74T>G) | |
2 | g.189565673_189565674insCCAAACACACCCAACAC | CA2753593868 | SLC40A1 | c.515-75_515-74insGTGTTGGGTGTGTTTGG (n.515-75_515-74insGTGTTGGGTGTGTTTGG) c.395-75_395-74insGTGTTGGGTGTGTTTGG (n.395-75_395-74insGTGTTGGGTGTGTTTGG) | |
2 | g.189565674A= | CA1315645219 | SLC40A1 | c.515-75T= (n.515-75T=) c.395-75T= (n.395-75T=) | |
2 | g.189565674A>G | CA1315645220 | SLC40A1 | c.515-75T>C (n.515-75T>C) c.395-75T>C (n.395-75T>C) | dbSNP |
2 | g.189565677T>C | CA2662329187 | SLC40A1 | c.515-78A>G (n.515-78A>G) c.395-78A>G (n.395-78A>G) | gnomAD v4 |
2 | g.189565677T>G | CA2662329189 | SLC40A1 | c.515-78A>C (n.515-78A>C) c.395-78A>C (n.395-78A>C) | gnomAD v4 |
2 | g.189565679T>A | CA2662329191 | SLC40A1 | c.515-80A>T (n.515-80A>T) c.395-80A>T (n.395-80A>T) | gnomAD v4 |
2 | g.189565679_189565680delinsTA | CA1315645222 | SLC40A1 | c.515-81_515-80delinsTA (n.515-81_515-80delinsTA) c.395-81_395-80delinsTA (n.395-81_395-80delinsTA) | |
2 | g.189565680A>C | CA2662329192 | SLC40A1 | c.515-81T>G (n.515-81T>G) c.395-81T>G (n.395-81T>G) | gnomAD v4 |
2 | g.189565682del | CA1040450152 | SLC40A1 | c.515-81del (n.515-81del) c.395-81del (n.395-81del) | dbSNP gnomAD v3 gnomAD v4 |