NM_004415.4(DSP):c.*9T>A

rs11558732

NM_004415.4(DSP):c.105G>A (p.Gly35=)

rs77445784

NM_004415.4(DSP):c.1065G>A (p.Gln355=)

rs750289780

NM_004415.4(DSP):c.1140+6T>C

rs534740669

NM_004415.4(DSP):c.1206G>A (p.Lys402=)

rs150422458

NM_004415.4(DSP):c.1266+6G>T

rs73375345

NM_004415.4(DSP):c.12C>G (p.Asn4Lys)

rs368802003

NM_004415.4(DSP):c.1344G>A (p.Leu448=)

rs138226280

NM_004415.4(DSP):c.145A>G (p.Thr49Ala)

rs142059019

NM_004415.4(DSP):c.1483G>A (p.Val495Met)

rs372014020

NM_004415.4(DSP):c.1488G>A (p.Thr496=)

rs35820473

NM_004415.4(DSP):c.1557C>T (p.Ala519=)

rs769629611

NM_004415.4(DSP):c.157T>G (p.Ser53Ala)

rs397516918

NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)

rs148147581

NM_004415.4(DSP):c.1714T>C

rs1554105598

NM_004415.4(DSP):c.1743C>T (p.Ala581=)

rs139095230

NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)

rs34239595

NM_004415.4(DSP):c.1920C>T (p.Ile640=)

rs74806300

NM_004415.4(DSP):c.2091A>G (p.Gly697=)

rs2076304

NM_004415.4(DSP):c.237C>T (p.Ser79=)

rs146521568

NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)

rs150339369

NM_004415.4(DSP):c.2436+16A>G

rs199555263

NM_004415.4(DSP):c.243720T>G

rs778134276

NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)

rs142429411

NM_004415.4(DSP):c.264C>T (p.Ile88=)

rs727502997

NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)

rs367752002

NM_004415.4(DSP):c.269A>G (p.Gln90Arg)

rs188516326

NM_004415.4(DSP):c.2723G>A (p.Arg908His)

rs142494121

NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)

rs145933612

NM_004415.4(DSP):c.27944dup

rs397516924

NM_004415.4(DSP):c.27947T>C

rs397516926

NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)

rs80325569

NM_004415.4(DSP):c.29866T>A

rs144748036

NM_004415.4(DSP):c.3018A>G (p.Leu1006=)

rs375412541

NM_004415.4(DSP):c.3123C>T (p.Leu1041=)

rs149929637

NM_004415.4(DSP):c.3282G>A (p.Lys1094=)

rs2491080

NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)

rs370550974

NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)

rs372440854

NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)

rs746877365

NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)

rs148894066

NM_004415.4(DSP):c.3510G>A (p.Glu1170=)

rs28763964

NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)

rs151115778

NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)

rs199795359

NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)

rs535202724

NM_004415.4(DSP):c.3696C>A (p.Ser1232=)

rs141120358

NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)

rs185367490

NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)

rs778178956

NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)

rs184154918

NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)

rs138599871

NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)

rs148478829

NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)

rs77758574

NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)

rs201736018

NM_004415.4(DSP):c.42316_42315insC

rs113028223

NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)

rs28763965

NM_004415.4(DSP):c.4383G>A (p.Glu1461=)

rs140029036

NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)

rs113902911

NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)

rs148041814

NM_004415.4(DSP):c.4500G>T (p.Leu1500=)

rs372881903

NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)

rs577061462

NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)

rs2076299

NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)

rs141227126

NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)

rs28763967

NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)

rs186842903

NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)

rs200421954

NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)

rs749730642

NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)

rs142803672

NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)

rs147415451

NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)

rs142885240

NM_004415.4(DSP):c.522T>C (p.Cys174=)

rs144781697

NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)

rs78652302

NM_004415.4(DSP):c.5555G>A (p.Arg1852His)

rs193922669

NM_004415.4(DSP):c.5984G>A

rs747448946

NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)

rs764692193

NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)

rs557263443

NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)

rs41302885

NM_004415.4(DSP):c.6351T>C (p.Asp2117=)

rs148743859

NM_004415.4(DSP):c.6381C>T (p.Ala2127=)

rs146315412

NM_004415.4(DSP):c.6390T>C (p.Ala2130=)

rs28763969

NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)

rs397516953

NM_004415.4(DSP):c.6678T>A (p.Gly2226=)

rs149070106

NM_004415.4(DSP):c.6753G>A (p.Lys2251=)

rs750294829

NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)

rs147000526

NM_004415.4(DSP):c.688G>A (p.Asp230Asn)

rs147315869

NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)

rs78843072

NM_004415.4(DSP):c.741G>A (p.Ala247=)

rs2806234

NM_004415.4(DSP):c.7548G>A (p.Arg2516=)

rs756527780

NM_004415.4(DSP):c.7734C>T (p.Ser2578=)

rs28763970

NM_004415.4(DSP):c.782C>T (p.Ala261Val)

rs139509870

NM_004415.4(DSP):c.7848G>A (p.Ser2616=)

rs148798300

NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)

rs147484870

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

rs116888866

NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)

rs193922671

NM_004415.4(DSP):c.8019C>T (p.Asp2673=)

rs144275591

NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)

rs397516962

NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)

rs201397978

NM_004415.4(DSP):c.8268A>C (p.Ile2756=)

rs397516963

NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)

rs34884895

NM_004415.4(DSP):c.8301C>G (p.Thr2767=)

rs145362059

NM_004415.4(DSP):c.8415C>T (p.Ala2805=)

rs377148997

NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)

rs138329459

NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)

rs142717240

NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])

rs397516968

NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])

rs397516971

NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=)

rs1561706189

NM_004415.4(DSP):c.88G>A (p.Val30Met)

rs121912998

NM_004415.4(DSP):c.913A>T (p.Ile305Phe)

rs17604693

NM_004415.4(DSP):c.939+1G>A

rs727504443
