1 |
GDF6 |
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) |
SNV |
Pathogenic
|
60533 |
rs1401531865 |
GRCh37: 8:97157283-97157283 GRCh38: 8:96145055-96145055 |
2 |
GDF6 |
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) |
SNV |
Pathogenic
Uncertain Significance
|
60534 |
rs397514725 |
GRCh37: 8:97172752-97172752 GRCh38: 8:96160524-96160524 |
3 |
GDF6 |
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) |
SNV |
Pathogenic
|
30159 |
rs387906794 |
GRCh37: 8:97157564-97157564 GRCh38: 8:96145336-96145336 |
4 |
GDF6 |
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) |
SNV |
Pathogenic
Benign
|
8371 |
rs121909352 |
GRCh37: 8:97157413-97157413 GRCh38: 8:96145185-96145185 |
5 |
GDF6 |
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) |
SNV |
Uncertain Significance
|
959329 |
rs762304422 |
GRCh37: 8:97157281-97157281 GRCh38: 8:96145053-96145053 |
6 |
GDF6 |
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) |
SNV |
Uncertain Significance
|
962453 |
rs1040541530 |
GRCh37: 8:97172698-97172698 GRCh38: 8:96160470-96160470 |
7 |
GDF6 |
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) |
SNV |
Uncertain Significance
|
964319 |
rs121909355 |
GRCh37: 8:97157401-97157401 GRCh38: 8:96145173-96145173 |
8 |
GDF6 |
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) |
SNV |
Uncertain Significance
|
965244 |
rs760516509 |
GRCh37: 8:97172839-97172839 GRCh38: 8:96160611-96160611 |
9 |
GDF6 |
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) |
SNV |
Uncertain Significance
|
286405 |
rs886043381 |
GRCh37: 8:97157434-97157434 GRCh38: 8:96145206-96145206 |
10 |
GDF6 |
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) |
SNV |
Uncertain Significance
|
968855 |
rs772435568 |
GRCh37: 8:97172559-97172559 GRCh38: 8:96160331-96160331 |
11 |
GDF6 |
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) |
MICROSAT |
Uncertain Significance
|
968900 |
rs762461479 |
GRCh37: 8:97157154-97157155 GRCh38: 8:96144926-96144927 |
12 |
GDF6 |
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) |
SNV |
Uncertain Significance
|
1001816 |
rs376427985 |
GRCh37: 8:97156849-97156849 GRCh38: 8:96144621-96144621 |
13 |
GDF6 |
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) |
SNV |
Uncertain Significance
|
1002016 |
rs1444302456 |
GRCh37: 8:97157623-97157623 GRCh38: 8:96145395-96145395 |
14 |
GDF6 |
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) |
SNV |
Uncertain Significance
|
1007576 |
rs999492360 |
GRCh37: 8:97157548-97157548 GRCh38: 8:96145320-96145320 |
15 |
GDF6 |
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) |
SNV |
Uncertain Significance
|
1008100 |
rs536331514 |
GRCh37: 8:97172544-97172544 GRCh38: 8:96160316-96160316 |
16 |
GDF6 |
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) |
SNV |
Uncertain Significance
|
1008463 |
rs768741148 |
GRCh37: 8:97172649-97172649 GRCh38: 8:96160421-96160421 |
17 |
GDF6 |
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) |
SNV |
Uncertain Significance
|
1009700 |
rs367883918 |
GRCh37: 8:97172640-97172640 GRCh38: 8:96160412-96160412 |
18 |
GDF6 |
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) |
SNV |
Uncertain Significance
|
1015372 |
rs1812739209 |
GRCh37: 8:97172598-97172598 GRCh38: 8:96160370-96160370 |
19 |
GDF6 |
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) |
SNV |
Uncertain Significance
|
836995 |
rs561421783 |
GRCh37: 8:97157344-97157344 GRCh38: 8:96145116-96145116 |
20 |
GDF6 |
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) |
SNV |
Uncertain Significance
|
863448 |
rs368498747 |
GRCh37: 8:97172599-97172599 GRCh38: 8:96160371-96160371 |
21 |
GDF6 |
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) |
SNV |
Uncertain Significance
|
958860 |
rs766458579 |
GRCh37: 8:97172668-97172668 GRCh38: 8:96160440-96160440 |
22 |
GDF6 |
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) |
SNV |
Uncertain Significance
|
1002101 |
rs761634996 |
GRCh37: 8:97157263-97157263 GRCh38: 8:96145035-96145035 |
23 |
GDF6 |
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) |
SNV |
Uncertain Significance
|
1053446 |
|
GRCh37: 8:97172890-97172890 GRCh38: 8:96160662-96160662 |
24 |
GDF6 |
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) |
SNV |
Uncertain Significance
|
835633 |
rs766667262 |
GRCh37: 8:97157699-97157699 GRCh38: 8:96145471-96145471 |
25 |
GDF6 |
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) |
SNV |
Uncertain Significance
|
836171 |
rs375108591 |
GRCh37: 8:97172754-97172754 GRCh38: 8:96160526-96160526 |
26 |
GDF6 |
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) |
INDEL |
Uncertain Significance
|
836825 |
rs1812445134 |
GRCh37: 8:97157156-97157157 GRCh38: 8:96144928-96144929 |
27 |
GDF6 |
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) |
SNV |
Uncertain Significance
|
837877 |
rs903826881 |
GRCh37: 8:97157536-97157536 GRCh38: 8:96145308-96145308 |
28 |
GDF6 |
NM_001001557.4(GDF6):c.27G>A (p.Ser9=) |
SNV |
Uncertain Significance
|
846167 |
rs1215904741 |
GRCh37: 8:97172894-97172894 GRCh38: 8:96160666-96160666 |
29 |
GDF6 |
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) |
SNV |
Uncertain Significance
|
851090 |
rs1040541530 |
GRCh37: 8:97172698-97172698 GRCh38: 8:96160470-96160470 |
30 |
GDF6 |
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) |
SNV |
Uncertain Significance
|
853665 |
rs1812463179 |
GRCh37: 8:97157731-97157731 GRCh38: 8:96145503-96145503 |
31 |
GDF6 |
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) |
SNV |
Uncertain Significance
|
939263 |
rs765928590 |
GRCh37: 8:97157289-97157289 GRCh38: 8:96145061-96145061 |
32 |
GDF6 |
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) |
SNV |
Uncertain Significance
|
939495 |
rs747899927 |
GRCh37: 8:97157374-97157374 GRCh38: 8:96145146-96145146 |
33 |
GDF6 |
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) |
SNV |
Uncertain Significance
|
954246 |
rs1303995573 |
GRCh37: 8:97157303-97157303 GRCh38: 8:96145075-96145075 |
34 |
GDF6 |
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) |
SNV |
Uncertain Significance
|
954499 |
rs1204502085 |
GRCh37: 8:97172616-97172616 GRCh38: 8:96160388-96160388 |
35 |
GDF6 |
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) |
SNV |
Uncertain Significance
|
912580 |
rs780167779 |
GRCh37: 8:97157342-97157342 GRCh38: 8:96145114-96145114 |
36 |
GDF6 |
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) |
SNV |
Uncertain Significance
|
1368033 |
|
GRCh37: 8:97172838-97172838 GRCh38: 8:96160610-96160610 |
37 |
GDF6 |
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) |
SNV |
Uncertain Significance
|
1355378 |
|
GRCh37: 8:97172682-97172682 GRCh38: 8:96160454-96160454 |
38 |
GDF6 |
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) |
SNV |
Uncertain Significance
|
1050339 |
|
GRCh37: 8:97156915-97156915 GRCh38: 8:96144687-96144687 |
39 |
GDF6 |
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) |
SNV |
Uncertain Significance
|
1368547 |
|
GRCh37: 8:97156981-97156981 GRCh38: 8:96144753-96144753 |
40 |
GDF6 |
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) |
SNV |
Uncertain Significance
|
1357180 |
|
GRCh37: 8:97157743-97157743 GRCh38: 8:96145515-96145515 |
41 |
GDF6 |
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) |
SNV |
Uncertain Significance
|
1357500 |
|
GRCh37: 8:97172821-97172821 GRCh38: 8:96160593-96160593 |
42 |
GDF6 |
NM_001001557.4(GDF6):c.513G>A (p.Gln171=) |
SNV |
Uncertain Significance
|
1356005 |
|
GRCh37: 8:97157646-97157646 GRCh38: 8:96145418-96145418 |
43 |
GDF6 |
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) |
SNV |
Uncertain Significance
|
1378435 |
|
GRCh37: 8:97157458-97157458 GRCh38: 8:96145230-96145230 |
44 |
GDF6 |
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) |
SNV |
Uncertain Significance
|
1390684 |
|
GRCh37: 8:97172556-97172556 GRCh38: 8:96160328-96160328 |
45 |
GDF6 |
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) |
SNV |
Uncertain Significance
|
1368768 |
|
GRCh37: 8:97156826-97156826 GRCh38: 8:96144598-96144598 |
46 |
GDF6 |
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) |
SNV |
Uncertain Significance
|
1422951 |
|
GRCh37: 8:97157137-97157137 GRCh38: 8:96144909-96144909 |
47 |
GDF6 |
NM_001001557.4(GDF6):c.684G>C (p.Gln228His) |
SNV |
Uncertain Significance
|
1429484 |
|
GRCh37: 8:97157475-97157475 GRCh38: 8:96145247-96145247 |
48 |
GDF6 |
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) |
SNV |
Uncertain Significance
|
1417974 |
|
GRCh37: 8:97172806-97172806 GRCh38: 8:96160578-96160578 |
49 |
GDF6 |
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) |
SNV |
Uncertain Significance
|
1417427 |
|
GRCh37: 8:97157351-97157351 GRCh38: 8:96145123-96145123 |
50 |
GDF6 |
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) |
SNV |
Uncertain Significance
|
1461462 |
|
GRCh37: 8:97157746-97157746 GRCh38: 8:96145518-96145518 |