NM_001195248.2(APTX):c.318C>T (p.Asn106=)
|
rs79254654
|
0.00842
|
NM_001195248.2(APTX):c.596G>A (p.Arg199His)
|
rs150886026
|
0.00598
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)
|
rs34634937
|
0.00350
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_001195248.2(APTX):c.513G>A (p.Leu171=)
|
rs140888559
|
0.00063
|
NM_001195248.2(APTX):c.770+10G>T
|
rs111392103
|
0.00054
|
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001195248.2(APTX):c.181G>A (p.Val61Ile)
|
rs755448350
|
0.00016
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
NM_001195248.2(APTX):c.191A>G (p.Asn64Ser)
|
rs142032370
|
0.00006
|
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)
|
rs201912053
|
0.00002
|
NM_001195248.2(APTX):c.396T>A (p.Ala132=)
|
rs753537901
|
0.00002
|
NM_001195248.2(APTX):c.710A>G (p.Asp237Gly)
|
rs749338153
|
0.00002
|
NM_001195248.2(APTX):c.86G>A (p.Arg29His)
|
rs766690500
|
0.00002
|
NM_001195248.2(APTX):c.593C>T (p.Ala198Val)
|
rs748165574
|
0.00001
|
NM_001195248.2(APTX):c.1003C>T (p.His335Tyr)
|
rs1828537508
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG
|
rs1554664711
|
|
NM_001195248.2(APTX):c.491T>C (p.Leu164Pro)
|
rs1367238962
|
|
NM_001195248.2(APTX):c.506_507insCTGG (p.Gln169fs)
|
rs1587449274
|
|
NM_001195248.2(APTX):c.686del (p.Thr229fs)
|
rs1587435802
|
|
NM_001195248.2(APTX):c.719G>T (p.Gly240Val)
|
|
|
NM_001195248.2(APTX):c.779A>G (p.His260Arg)
|
rs1324748344
|
|
NM_001195248.2(APTX):c.873A>G (p.Gln291=)
|
|
|
NM_001195248.2(APTX):c.874+10G>A
|
rs1260560154
|
|