1 |
CACNA1H
|
NM_021098.3(CACNA1H): c.483C> A (p.Phe161Leu)
|
single nucleotide variant |
risk factor |
rs119454947
|
16:1245503-1245503 |
16:1195503-1195503 |
2 |
CACNA1H
|
NM_021098.3(CACNA1H): c.844G> A (p.Glu282Lys)
|
single nucleotide variant |
risk factor |
rs119454948
|
16:1250296-1250296 |
16:1200296-1200296 |
3 |
CACNA1H
|
NM_021098.3(CACNA1H): c.2491G> A (p.Val831Met)
|
single nucleotide variant |
risk factor |
rs119454949
|
16:1255153-1255153 |
16:1205153-1205153 |
4 |
CACNA1H
|
NM_021098.3(CACNA1H): c.1853C> T (p.Pro618Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs60734921
|
16:1252303-1252303 |
16:1202303-1202303 |
5 |
CACNA1H
|
NM_021098.3(CACNA1H): c.830C> T (p.Pro277Leu)
|
single nucleotide variant |
Uncertain significance |
rs372848579
|
16:1250282-1250282 |
16:1200282-1200282 |
6 |
CACNA1H
|
NM_021098.3(CACNA1H): c.3067G> A (p.Asp1023Asn)
|
single nucleotide variant |
Uncertain significance |
|
16:1257773-1257773 |
16:1207773-1207773 |
7 |
CACNA1H
|
NM_021098.3(CACNA1H): c.6623C> T (p.Ala2208Val)
|
single nucleotide variant |
Uncertain significance |
|
16:1270555-1270555 |
16:1220555-1220555 |
8 |
CACNA1H
|
NM_021098.3(CACNA1H): c.2329C> T (p.Arg777Cys)
|
single nucleotide variant |
Uncertain significance |
|
16:1254336-1254336 |
16:1204336-1204336 |
9 |
CACNA1H
|
NM_021098.3(CACNA1H): c.5342C> G (p.Pro1781Arg)
|
single nucleotide variant |
Uncertain significance |
|
16:1267937-1267937 |
16:1217937-1217937 |
10 |
CACNA1H
|
NM_021098.3(CACNA1H): c.171G> T (p.Glu57Asp)
|
single nucleotide variant |
Uncertain significance |
rs539324457
|
16:1203908-1203908 |
16:1153908-1153908 |
11 |
CACNA1H
|
NM_021098.3(CACNA1H): c.3589G> A (p.Glu1197Lys)
|
single nucleotide variant |
Uncertain significance |
rs751423106
|
16:1259257-1259257 |
16:1209257-1209257 |
12 |
CACNA1H
|
NM_021098.3(CACNA1H): c.5635G> A (p.Glu1879Lys)
|
single nucleotide variant |
Uncertain significance |
rs377103385
|
16:1268399-1268399 |
16:1218399-1218399 |
13 |
CACNA1H
|
NM_021098.3(CACNA1H): c.1436A> G (p.Tyr479Cys)
|
single nucleotide variant |
Uncertain significance |
rs199914911
|
16:1251886-1251886 |
16:1201886-1201886 |
14 |
CACNA1H
|
NM_021098.3(CACNA1H): c.3304G> A (p.Asp1102Asn)
|
single nucleotide variant |
Uncertain significance |
rs1555514961
|
16:1258162-1258162 |
16:1208162-1208162 |
15 |
CACNA1H
|
NM_021098.3(CACNA1H): c.3425G> A (p.Arg1142His)
|
single nucleotide variant |
Uncertain significance |
rs538758039
|
16:1259093-1259093 |
16:1209093-1209093 |
16 |
CACNA1H
|
NM_021098.3(CACNA1H): c.2540G> T (p.Cys847Phe)
|
single nucleotide variant |
Uncertain significance |
rs202019417
|
16:1255202-1255202 |
16:1205202-1205202 |
17 |
CACNA1H
|
NM_021098.3(CACNA1H): c.1915G> A (p.Gly639Arg)
|
single nucleotide variant |
Uncertain significance |
rs1555512240
|
16:1252365-1252365 |
16:1202365-1202365 |
18 |
CACNA1H
|
NM_021098.3(CACNA1H): c.6032G> A (p.Arg2011Gln)
|
single nucleotide variant |
Uncertain significance |
rs554063452
|
16:1269114-1269114 |
16:1219114-1219114 |
19 |
CACNA1H
|
NM_021098.3(CACNA1H): c.6625G> C (p.Ala2209Pro)
|
single nucleotide variant |
Uncertain significance |
rs59103647
|
16:1270557-1270557 |
16:1220557-1220557 |
20 |
CACNA1H
|
NM_021098.3(CACNA1H): c.4534G> A (p.Asp1512Asn)
|
single nucleotide variant |
Uncertain significance |
rs200709671
|
16:1261773-1261773 |
16:1211773-1211773 |
21 |
CACNA1H
|
NM_021098.3(CACNA1H): c.5947T> C (p.Leu1983=)
|
single nucleotide variant |
Benign |
rs2738893
|
16:1269029-1269029 |
16:1219029-1219029 |
22 |
CACNA1H
|
NM_021098.3(CACNA1H): c.489G> C (p.Gln163His)
|
single nucleotide variant |
Benign |
rs60593994
|
16:1245509-1245509 |
16:1195509-1195509 |
23 |
CACNA1H
|
NM_021098.3(CACNA1H): c.1702G> A (p.Asp568Asn)
|
single nucleotide variant |
Benign |
rs61056448
|
16:1252152-1252152 |
16:1202152-1202152 |
24 |
CACNA1H
|
NM_021098.3(CACNA1H): c.5493C> T (p.Tyr1831=)
|
single nucleotide variant |
Benign |
rs60218977
|
16:1268257-1268257 |
16:1218257-1218257 |
25 |
CACNA1H
|
NM_021098.3(CACNA1H): c.2626G> A (p.Ala876Thr)
|
single nucleotide variant |
Benign |
rs58173258
|
16:1256126-1256126 |
16:1206126-1206126 |
26 |
CACNA1H
|
NM_021098.3(CACNA1H): c.2362C> T (p.Arg788Cys)
|
single nucleotide variant |
Benign |
rs3751664
|
16:1254369-1254369 |
16:1204369-1204369 |
27 |
CACNA1H
|
NM_021098.3(CACNA1H): c.1919C> T (p.Pro640Leu)
|
single nucleotide variant |
Benign |
rs61734410
|
16:1252369-1252369 |
16:1202369-1202369 |
28 |
CACNA1H
|
NM_021098.3(CACNA1H): c.3957T> C (p.Asp1319=)
|
single nucleotide variant |
Benign |
rs8063574
|
16:1260481-1260481 |
16:1210481-1210481 |
29 |
CACNA1H
|
NM_021098.3(CACNA1H): c.6230G> A (p.Arg2077His)
|
single nucleotide variant |
Benign |
rs1054645
|
16:1270162-1270162 |
16:1220162-1220162 |
30 |
CACNA1H
|
NM_021098.3(CACNA1H): c.6417T> C (p.Asp2139=)
|
single nucleotide variant |
Benign |
rs4247094
|
16:1270349-1270349 |
16:1220349-1220349 |
31 |
CACNA1H
|
NM_021098.3(CACNA1H): c.2318G> A (p.Gly773Asp)
|
single nucleotide variant |
no interpretation for the single variant |
rs267606697
|
16:1254325-1254325 |
16:1204325-1204325 |