1 |
ANKS6 |
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) | ‎‎
SNV |
Pathogenic |
579608 |
rs369437168 |
9:101540694-101540694 |
9:98778412-98778412 |
2 |
ANKS6 |
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) | ‎‎
SNV |
Pathogenic |
571622 |
rs756090222 |
9:101552521-101552521 |
9:98790239-98790239 |
3 |
ANKS6 |
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) | ‎‎
duplication |
Pathogenic |
574976 |
rs1564228101 |
9:101552529-101552530 |
9:98790247-98790248 |
4 |
ANKS6 |
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) | ‎‎
deletion |
Pathogenic |
661012 |
|
9:101552708-101552709 |
9:98790426-98790427 |
5 |
ANKS6 |
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) | ‎‎
deletion |
Pathogenic |
64358 |
rs587777025 |
9:101513333-101513335 |
9:98751051-98751053 |
6 |
ANKS6 |
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) | ‎‎
deletion |
Pathogenic |
64357 |
rs587777024 |
9:101530441-101530451 |
9:98768159-98768169 |
7 |
ANKS6 |
NM_173551.5(ANKS6):c.2512-2A>C | ‎‎
SNV |
Pathogenic |
64359 |
rs397514258 |
9:101498907-101498907 |
9:98736625-98736625 |
8 |
ANKS6 |
NM_173551.5(ANKS6):c.1973-3C>G | ‎‎
SNV |
Likely pathogenic |
64356 |
rs397514257 |
9:101530535-101530535 |
9:98768253-98768253 |
9 |
ANKS6 |
NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
262859 |
rs79073889 |
9:101546410-101546410 |
9:98784128-98784128 |
10 |
ANKS6 |
NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
390055 |
rs199851177 |
9:101498824-101498824 |
9:98736542-98736542 |
11 |
ANKS6 |
NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) | ‎‎
SNV |
Uncertain significance |
541402 |
rs370230003 |
9:101518764-101518764 |
9:98756482-98756482 |
12 |
ANKS6 |
NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) | ‎‎
SNV |
Uncertain significance |
857938 |
|
9:101536259-101536259 |
9:98773977-98773977 |
13 |
ANKS6 |
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) | ‎‎
SNV |
Uncertain significance |
843092 |
|
9:101540654-101540654 |
9:98778372-98778372 |
14 |
ANKS6 |
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) | ‎‎
SNV |
Uncertain significance |
857507 |
|
9:101540684-101540684 |
9:98778402-98778402 |
15 |
ANKS6 |
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) | ‎‎
SNV |
Uncertain significance |
853983 |
|
9:101552791-101552791 |
9:98790509-98790509 |
16 |
ANKS6 |
NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) | ‎‎
SNV |
Uncertain significance |
658948 |
|
9:101552824-101552824 |
9:98790542-98790542 |
17 |
ANKS6 |
NM_173551.5(ANKS6):c.1220-6C>T | ‎‎
SNV |
Uncertain significance |
641802 |
|
9:101542625-101542625 |
9:98780343-98780343 |
18 |
ANKS6 |
NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) | ‎‎
SNV |
Uncertain significance |
474446 |
rs200373053 |
9:101533237-101533237 |
9:98770955-98770955 |
19 |
ANKS6 |
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) | ‎‎
SNV |
Uncertain significance |
474452 |
rs374511363 |
9:101552835-101552835 |
9:98790553-98790553 |
20 |
ANKS6 |
NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) | ‎‎
SNV |
Uncertain significance |
640676 |
|
9:101507849-101507849 |
9:98745567-98745567 |
21 |
ANKS6 |
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) | ‎‎
SNV |
Uncertain significance |
638870 |
|
9:101518761-101518761 |
9:98756479-98756479 |
22 |
ANKS6 |
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) | ‎‎
SNV |
Uncertain significance |
641730 |
|
9:101552584-101552584 |
9:98790302-98790302 |
23 |
ANKS6 |
NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) | ‎‎
SNV |
Uncertain significance |
579133 |
rs201419783 |
9:101518831-101518831 |
9:98756549-98756549 |
24 |
ANKS6 |
NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) | ‎‎
SNV |
Uncertain significance |
566672 |
rs200902480 |
9:101552442-101552442 |
9:98790160-98790160 |
25 |
ANKS6 |
NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) | ‎‎
SNV |
Uncertain significance |
566534 |
rs146038901 |
9:101530392-101530392 |
9:98768110-98768110 |
26 |
ANKS6 |
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) | ‎‎
SNV |
Uncertain significance |
582762 |
rs202244716 |
9:101518795-101518795 |
9:98756513-98756513 |
27 |
ANKS6 |
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) | ‎‎
SNV |
Uncertain significance |
567567 |
rs760387934 |
9:101530400-101530400 |
9:98768118-98768118 |
28 |
ANKS6 |
NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) | ‎‎
SNV |
Uncertain significance |
474442 |
rs201297615 |
9:101544853-101544853 |
9:98782571-98782571 |
29 |
ANKS6 |
NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) | ‎‎
SNV |
Uncertain significance |
474449 |
rs372265310 |
9:101513378-101513378 |
9:98751096-98751096 |
30 |
ANKS6 |
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) | ‎‎
SNV |
Uncertain significance |
474455 |
rs748439897 |
9:101552401-101552401 |
9:98790119-98790119 |
31 |
ANKS6 |
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) | ‎‎
SNV |
Uncertain significance |
474453 |
rs181546859 |
9:101552716-101552716 |
9:98790434-98790434 |
32 |
ANKS6 |
NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) | ‎‎
SNV |
Uncertain significance |
474450 |
rs1554752436 |
9:101558536-101558536 |
9:98796254-98796254 |
33 |
ANKS6 |
NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) | ‎‎
SNV |
Uncertain significance |
541403 |
rs1554742278 |
9:101530453-101530453 |
9:98768171-98768171 |
34 |
ANKS6 |
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) | ‎‎
SNV |
Uncertain significance |
541400 |
rs376870807 |
9:101546340-101546340 |
9:98784058-98784058 |
35 |
ANKS6 |
NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) | ‎‎
SNV |
Uncertain significance |
541401 |
rs776931798 |
9:101544792-101544792 |
9:98782510-98782510 |
36 |
ANKS6 |
NM_173551.5(ANKS6):c.1902G>A (p.Ser634=) | ‎‎
SNV |
Likely benign |
474445 |
rs765475331 |
9:101533248-101533248 |
9:98770966-98770966 |
37 |
ANKS6 |
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=) | ‎‎
SNV |
Likely benign |
474443 |
rs201821907 |
9:101536249-101536249 |
9:98773967-98773967 |
38 |
ANKS6 |
NM_173551.5(ANKS6):c.193G>T (p.Val65Phe) | ‎‎
SNV |
Likely benign |
474447 |
rs745881769 |
9:101558581-101558581 |
9:98796299-98796299 |
39 |
ANKS6 |
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser) | ‎‎
SNV |
Likely benign |
474451 |
rs200644058 |
9:101498853-101498853 |
9:98736571-98736571 |
40 |
ANKS6 |
NM_173551.5(ANKS6):c.2310C>T (p.Gly770=) | ‎‎
SNV |
Likely benign |
474448 |
rs181456709 |
9:101518718-101518718 |
9:98756436-98756436 |
41 |
ANKS6 |
NM_173551.5(ANKS6):c.1641C>A (p.Thr547=) | ‎‎
SNV |
Likely benign |
775032 |
|
9:101536339-101536339 |
9:98774057-98774057 |
42 |
ANKS6 |
NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser) | ‎‎
SNV |
Likely benign |
707351 |
|
9:101540550-101540550 |
9:98778268-98778268 |
43 |
ANKS6 |
NM_173551.5(ANKS6):c.1772C>G (p.Pro591Arg) | ‎‎
SNV |
Likely benign |
767247 |
|
9:101536208-101536208 |
9:98773926-98773926 |
44 |
ANKS6 |
NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr) | ‎‎
SNV |
Likely benign |
767308 |
|
9:101536290-101536290 |
9:98774008-98774008 |
45 |
ANKS6 |
NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln) | ‎‎
SNV |
Likely benign |
778950 |
|
9:101552476-101552476 |
9:98790194-98790194 |
46 |
ANKS6 |
NM_173551.5(ANKS6):c.538C>T (p.Leu180=) | ‎‎
SNV |
Likely benign |
771090 |
|
9:101552710-101552710 |
9:98790428-98790428 |
47 |
ANKS6 |
NM_173551.5(ANKS6):c.2094G>A (p.Pro698=) | ‎‎
SNV |
Likely benign |
720041 |
|
9:101530411-101530411 |
9:98768129-98768129 |
48 |
ANKS6 |
NM_173551.5(ANKS6):c.1611A>C (p.Thr537=) | ‎‎
SNV |
Likely benign |
719108 |
|
9:101539693-101539693 |
9:98777411-98777411 |
49 |
ANKS6 |
NM_173551.5(ANKS6):c.583C>T (p.Leu195=) | ‎‎
SNV |
Likely benign |
726262 |
|
9:101552665-101552665 |
9:98790383-98790383 |
50 |
ANKS6 |
NM_173551.5(ANKS6):c.2265G>C (p.Ser755=) | ‎‎
SNV |
Likely benign |
743806 |
|
9:101518763-101518763 |
9:98756481-98756481 |