NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)
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rs751239867
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0.00023
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NM_000193.4(SHH):c.1279G>A (p.Gly427Arg)
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rs763665589
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0.00004
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NM_000193.4(SHH):c.236A>G (p.Asn79Ser)
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rs754993269
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0.00004
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NM_000193.4(SHH):c.44C>G (p.Ser15Trp)
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rs760920236
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0.00002
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NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
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rs137853341
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0.00001
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NM_000193.4(SHH):c.1196G>A (p.Gly399Glu)
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rs1370608867
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0.00001
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NM_000193.4(SHH):c.1210G>A (p.Gly404Arg)
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rs1803237255
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0.00001
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NM_000193.4(SHH):c.1331C>T (p.Thr444Ile)
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rs1301593958
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0.00001
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NM_000193.4(SHH):c.479T>C (p.Met160Thr)
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rs747511798
|
0.00001
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NM_000193.4(SHH):c.605C>T (p.Ser202Leu)
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rs1473100698
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0.00001
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NM_000193.4(SHH):c.741C>T (p.Gly247=)
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rs754898783
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0.00001
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NM_000193.4(SHH):c.766G>C (p.Glu256Gln)
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rs104894051
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0.00001
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NM_000193.4(SHH):c.961C>A (p.Arg321Ser)
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rs1803249091
|
0.00001
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NM_000193.4(SHH):c.1012A>T (p.Ser338Cys)
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|
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NM_000193.4(SHH):c.1013G>T (p.Ser338Ile)
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NM_000193.4(SHH):c.1025C>T (p.Ala342Val)
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NM_000193.4(SHH):c.1028G>A (p.Gly343Asp)
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rs1057518056
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NM_000193.4(SHH):c.1048G>T (p.Ala350Ser)
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rs768025752
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NM_000193.4(SHH):c.1094C>T (p.Ala365Val)
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NM_000193.4(SHH):c.1120C>T (p.His374Tyr)
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rs2117126217
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NM_000193.4(SHH):c.1157_1180del (p.Leu386_Ala393del)
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NM_000193.4(SHH):c.1171G>A (p.Ala391Thr)
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rs1131692264
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NM_000193.4(SHH):c.1189_1200dup (p.Arg397_Asp400dup)
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rs1379532101
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NM_000193.4(SHH):c.1199A>T (p.Asp400Val)
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rs1395203013
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NM_000193.4(SHH):c.1201_1215dup (p.Asp405_Arg406insSerGlyGlyGlyAsp)
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NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)
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rs780129844
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NM_000193.4(SHH):c.1211G>A (p.Gly404Glu)
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NM_000193.4(SHH):c.1217G>A (p.Arg406His)
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NM_000193.4(SHH):c.121C>G (p.Pro41Ala)
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rs1803533139
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NM_000193.4(SHH):c.1271C>T (p.Pro424Leu)
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NM_000193.4(SHH):c.1296C>G (p.Ile432Met)
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rs1803230762
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NM_000193.4(SHH):c.12_29dup (p.Ala5_Leu10dup)
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rs2117151449
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NM_000193.4(SHH):c.1322A>G (p.Gln441Arg)
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|
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NM_000193.4(SHH):c.1334G>A (p.Trp445Ter)
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NM_000193.4(SHH):c.1351G>A (p.Ala451Thr)
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NM_000193.4(SHH):c.137A>T (p.Gln46Leu)
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rs2117151273
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NM_000193.4(SHH):c.13G>C (p.Ala5Pro)
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NM_000193.4(SHH):c.177C>A (p.Ser59Arg)
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NM_000193.4(SHH):c.205A>C (p.Asn69His)
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rs2117151176
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NM_000193.4(SHH):c.211G>C (p.Glu71Gln)
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NM_000193.4(SHH):c.23T>C (p.Leu8Pro)
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NM_000193.4(SHH):c.281C>G (p.Ala94Gly)
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rs1803529327
|
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NM_000193.4(SHH):c.332T>C (p.Ile111Thr)
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rs2117138105
|
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NM_000193.4(SHH):c.335C>G (p.Ser112Trp)
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rs2117138098
|
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NM_000193.4(SHH):c.420C>G (p.His140Gln)
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rs2117137771
|
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NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
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NM_000193.4(SHH):c.434C>T (p.Ala145Val)
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NM_000193.4(SHH):c.468C>A (p.Ser156Arg)
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rs1554494372
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NM_000193.4(SHH):c.488G>A (p.Arg163His)
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NM_000193.4(SHH):c.488G>T (p.Arg163Leu)
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NM_000193.4(SHH):c.494C>A (p.Ala165Glu)
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NM_000193.4(SHH):c.52G>T (p.Val18Leu)
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NM_000193.4(SHH):c.532A>C (p.Lys178Gln)
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rs757178896
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NM_000193.4(SHH):c.580A>C (p.Lys194Gln)
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NM_000193.4(SHH):c.607G>T (p.Ala203Ser)
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NM_000193.4(SHH):c.629G>A (p.Gly210Asp)
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rs1554493882
|
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NM_000193.4(SHH):c.629G>T (p.Gly210Val)
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rs1554493882
|
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NM_000193.4(SHH):c.643_645del (p.Val215del)
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rs1554493872
|
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NM_000193.4(SHH):c.694C>G (p.Arg232Gly)
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NM_000193.4(SHH):c.716T>C (p.Leu239Pro)
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NM_000193.4(SHH):c.719C>G (p.Thr240Ser)
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NM_000193.4(SHH):c.770C>T (p.Thr257Met)
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NM_000193.4(SHH):c.775G>A (p.Glu259Lys)
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rs1201542449
|
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NM_000193.4(SHH):c.824C>A (p.Ala275Glu)
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NM_000193.4(SHH):c.847G>T (p.Gly283Trp)
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NM_000193.4(SHH):c.853C>G (p.Pro285Ala)
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rs747668656
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NM_000193.4(SHH):c.858G>C (p.Glu286Asp)
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NM_000193.4(SHH):c.905G>A (p.Arg302Gln)
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NM_000193.4(SHH):c.908C>T (p.Ala303Val)
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NM_000193.4(SHH):c.916G>A (p.Ala306Thr)
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rs537257011
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NM_000193.4(SHH):c.923G>C (p.Arg308Pro)
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NM_000193.4(SHH):c.952G>A (p.Val318Met)
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NM_000193.4(SHH):c.998A>C (p.His333Pro)
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rs1303961828
|
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