1 |
SLC40A1
|
NM_014585.5(SLC40A1): c.430A> C (p.Asn144His)
|
single nucleotide variant |
Pathogenic |
rs104893662
|
GRCh37 |
Chromosome 2, 190436525: 190436525 |
2 |
SLC40A1
|
NM_014585.5(SLC40A1): c.430A> C (p.Asn144His)
|
single nucleotide variant |
Pathogenic |
rs104893662
|
GRCh38 |
Chromosome 2, 189571799: 189571799 |
3 |
SLC40A1
|
NM_014585.5(SLC40A1): c.230C> A (p.Ala77Asp)
|
single nucleotide variant |
Pathogenic |
rs28939076
|
GRCh37 |
Chromosome 2, 190439928: 190439928 |
4 |
SLC40A1
|
NM_014585.5(SLC40A1): c.230C> A (p.Ala77Asp)
|
single nucleotide variant |
Pathogenic |
rs28939076
|
GRCh38 |
Chromosome 2, 189575202: 189575202 |
5 |
SLC40A1
|
NM_014585.5(SLC40A1): c.470A> G (p.Asp157Gly)
|
single nucleotide variant |
Pathogenic |
rs104893663
|
GRCh37 |
Chromosome 2, 190436485: 190436485 |
6 |
SLC40A1
|
NM_014585.5(SLC40A1): c.470A> G (p.Asp157Gly)
|
single nucleotide variant |
Pathogenic |
rs104893663
|
GRCh38 |
Chromosome 2, 189571759: 189571759 |
7 |
SLC40A1
|
NM_014585.5(SLC40A1): c.546G> T (p.Gln182His)
|
single nucleotide variant |
Pathogenic |
rs104893670
|
GRCh37 |
Chromosome 2, 190430294: 190430294 |
8 |
SLC40A1
|
NM_014585.5(SLC40A1): c.546G> T (p.Gln182His)
|
single nucleotide variant |
Pathogenic |
rs104893670
|
GRCh38 |
Chromosome 2, 189565568: 189565568 |
9 |
SLC40A1
|
SLC40A1, 3-BP DEL, VAL162DEL
|
deletion |
Pathogenic |
|
|
|
10 |
SLC40A1
|
NM_014585.5(SLC40A1): c.968G> T (p.Gly323Val)
|
single nucleotide variant |
Pathogenic |
rs104893671
|
GRCh37 |
Chromosome 2, 190428744: 190428744 |
11 |
SLC40A1
|
NM_014585.5(SLC40A1): c.968G> T (p.Gly323Val)
|
single nucleotide variant |
Pathogenic |
rs104893671
|
GRCh38 |
Chromosome 2, 189564018: 189564018 |
12 |
SLC40A1
|
NM_014585.5(SLC40A1): c.542A> T (p.Asp181Val)
|
single nucleotide variant |
Pathogenic |
rs104893672
|
GRCh37 |
Chromosome 2, 190430298: 190430298 |
13 |
SLC40A1
|
NM_014585.5(SLC40A1): c.542A> T (p.Asp181Val)
|
single nucleotide variant |
Pathogenic |
rs104893672
|
GRCh38 |
Chromosome 2, 189565572: 189565572 |
14 |
SLC40A1
|
NM_014585.5(SLC40A1): c.239G> T (p.Gly80Val)
|
single nucleotide variant |
Pathogenic |
rs104893673
|
GRCh37 |
Chromosome 2, 190439919: 190439919 |
15 |
SLC40A1
|
NM_014585.5(SLC40A1): c.239G> T (p.Gly80Val)
|
single nucleotide variant |
Pathogenic |
rs104893673
|
GRCh38 |
Chromosome 2, 189575193: 189575193 |
16 |
SLC40A1
|
NM_014585.5(SLC40A1): c.800G> A (p.Gly267Asp)
|
single nucleotide variant |
Pathogenic |
rs104893664
|
GRCh37 |
Chromosome 2, 190428912: 190428912 |
17 |
SLC40A1
|
NM_014585.5(SLC40A1): c.800G> A (p.Gly267Asp)
|
single nucleotide variant |
Pathogenic |
rs104893664
|
GRCh38 |
Chromosome 2, 189564186: 189564186 |
18 |
SLC40A1
|
NM_014585.5(SLC40A1): c.610G> A (p.Gly204Ser)
|
single nucleotide variant |
Likely pathogenic |
rs387907377
|
GRCh37 |
Chromosome 2, 190430230: 190430230 |
19 |
SLC40A1
|
NM_014585.5(SLC40A1): c.610G> A (p.Gly204Ser)
|
single nucleotide variant |
Likely pathogenic |
rs387907377
|
GRCh38 |
Chromosome 2, 189565504: 189565504 |
20 |
SLC40A1
|
NM_014585.5(SLC40A1): c.809A> T (p.Asp270Val)
|
single nucleotide variant |
Pathogenic |
rs368420430
|
GRCh37 |
Chromosome 2, 190428903: 190428903 |
21 |
SLC40A1
|
NM_014585.5(SLC40A1): c.809A> T (p.Asp270Val)
|
single nucleotide variant |
Pathogenic |
rs368420430
|
GRCh38 |
Chromosome 2, 189564177: 189564177 |
22 |
SLC40A1
|
NP_055400.1(SLC40A1): p.Gln248His
|
protein only |
Pathogenic |
|
|
|
23 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1520A> G (p.His507Arg)
|
single nucleotide variant |
Uncertain significance |
rs863224768
|
GRCh38 |
Chromosome 2, 189562074: 189562074 |
24 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1520A> G (p.His507Arg)
|
single nucleotide variant |
Uncertain significance |
rs863224768
|
GRCh37 |
Chromosome 2, 190426800: 190426800 |
25 |
SLC40A1
|
NM_014585.5(SLC40A1): c.485_487dupTTG (p.Val162_Ala163insVal)
|
duplication |
Uncertain significance |
rs878854984
|
GRCh37 |
Chromosome 2, 190436468: 190436470 |
26 |
SLC40A1
|
NM_014585.5(SLC40A1): c.485_487dupTTG (p.Val162_Ala163insVal)
|
duplication |
Uncertain significance |
rs878854984
|
GRCh38 |
Chromosome 2, 189571742: 189571744 |
27 |
SLC40A1
|
NM_014585.5(SLC40A1): c.430A> T (p.Asn144Tyr)
|
single nucleotide variant |
Uncertain significance |
rs104893662
|
GRCh38 |
Chromosome 2, 189571799: 189571799 |
28 |
SLC40A1
|
NM_014585.5(SLC40A1): c.430A> T (p.Asn144Tyr)
|
single nucleotide variant |
Uncertain significance |
rs104893662
|
GRCh37 |
Chromosome 2, 190436525: 190436525 |
29 |
SLC40A1
|
NM_014585.5(SLC40A1): c.744G> T (p.Gln248His)
|
single nucleotide variant |
Benign/Likely benign |
rs11568350
|
GRCh38 |
Chromosome 2, 189565370: 189565370 |
30 |
SLC40A1
|
NM_014585.5(SLC40A1): c.744G> T (p.Gln248His)
|
single nucleotide variant |
Benign/Likely benign |
rs11568350
|
GRCh37 |
Chromosome 2, 190430096: 190430096 |
31 |
SLC40A1
|
NM_014585.5(SLC40A1): c.271+10_271+12delGTT
|
deletion |
Likely benign |
rs768786843
|
GRCh38 |
Chromosome 2, 189575149: 189575151 |
32 |
SLC40A1
|
NM_014585.5(SLC40A1): c.271+10_271+12delGTT
|
deletion |
Likely benign |
rs768786843
|
GRCh37 |
Chromosome 2, 190439875: 190439877 |
33 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1570G> A (p.Val524Ile)
|
single nucleotide variant |
Uncertain significance |
rs142456282
|
GRCh37 |
Chromosome 2, 190426750: 190426750 |
34 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1570G> A (p.Val524Ile)
|
single nucleotide variant |
Uncertain significance |
rs142456282
|
GRCh38 |
Chromosome 2, 189562024: 189562024 |
35 |
SLC40A1
|
NM_014585.5(SLC40A1): c.387C> T (p.Leu129=)
|
single nucleotide variant |
Benign |
rs11568344
|
GRCh38 |
Chromosome 2, 189572846: 189572846 |
36 |
SLC40A1
|
NM_014585.5(SLC40A1): c.387C> T (p.Leu129=)
|
single nucleotide variant |
Benign |
rs11568344
|
GRCh37 |
Chromosome 2, 190437572: 190437572 |
37 |
SLC40A1
|
NM_014585.5(SLC40A1): c.327C> T (p.Ile109=)
|
single nucleotide variant |
Benign |
rs11568345
|
GRCh38 |
Chromosome 2, 189572906: 189572906 |
38 |
SLC40A1
|
NM_014585.5(SLC40A1): c.327C> T (p.Ile109=)
|
single nucleotide variant |
Benign |
rs11568345
|
GRCh37 |
Chromosome 2, 190437632: 190437632 |
39 |
SLC40A1
|
NM_014585.5(SLC40A1): c.524C> A (p.Ala175Asp)
|
single nucleotide variant |
Uncertain significance |
rs1060501101
|
GRCh38 |
Chromosome 2, 189565590: 189565590 |
40 |
SLC40A1
|
NM_014585.5(SLC40A1): c.524C> A (p.Ala175Asp)
|
single nucleotide variant |
Uncertain significance |
rs1060501101
|
GRCh37 |
Chromosome 2, 190430316: 190430316 |
41 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1469G> A (p.Gly490Asp)
|
single nucleotide variant |
Pathogenic |
rs1060501102
|
GRCh37 |
Chromosome 2, 190426851: 190426851 |
42 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1469G> A (p.Gly490Asp)
|
single nucleotide variant |
Pathogenic |
rs1060501102
|
GRCh38 |
Chromosome 2, 189562125: 189562125 |
43 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1481G> A (p.Gly494Asp)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 2, 189562113: 189562113 |
44 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1481G> A (p.Gly494Asp)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 2, 190426839: 190426839 |
45 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1049C> A (p.Ala350Asp)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 2, 189563937: 189563937 |
46 |
SLC40A1
|
NM_014585.5(SLC40A1): c.1049C> A (p.Ala350Asp)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 2, 190428663: 190428663 |
47 |
SLC40A1
|
NM_014585.5(SLC40A1): c.544C> G (p.Gln182Glu)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 2, 190430296: 190430296 |
48 |
SLC40A1
|
NM_014585.5(SLC40A1): c.544C> G (p.Gln182Glu)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 2, 189565570: 189565570 |
49 |
SLC40A1
|
NM_014585.5(SLC40A1): c.541G> A (p.Asp181Asn)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 2, 189565573: 189565573 |
50 |
SLC40A1
|
NM_014585.5(SLC40A1): c.541G> A (p.Asp181Asn)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 2, 190430299: 190430299 |