ClinVar Miner

List of variants in gene CRPPA studied for hereditary skeletal muscle disorder

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 353
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.789+89A>G rs62441885 0.50511
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524 0.00339
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 0.00088
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832 0.00056
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001101426.4(CRPPA):c.684+12G>C rs376232862 0.00022
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749 0.00014
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637 0.00012
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 0.00011
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825 0.00009
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736 0.00008
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=) rs760178734 0.00007
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104 0.00007
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) rs939213590 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=) rs886042759 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 0.00005
NM_001101426.4(CRPPA):c.304A>G (p.Met102Val) rs763300192 0.00004
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863 0.00004
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986 0.00003
NM_001101426.4(CRPPA):c.1251+11T>C rs199790485 0.00003
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637 0.00003
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly) rs757846188 0.00003
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys) rs200114996 0.00003
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val) rs765545106 0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr) rs1314571093 0.00003
NM_001101426.4(CRPPA):c.1120-19T>A rs773390529 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.594C>T (p.Cys198=) rs756333932 0.00002
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met) rs749732549 0.00002
NM_001101426.4(CRPPA):c.789+13A>C rs773343225 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys) rs774852908 0.00001
NM_001101426.4(CRPPA):c.1092C>T (p.Cys364=) rs1418861315 0.00001
NM_001101426.4(CRPPA):c.1120-4G>A rs886042445 0.00001
NM_001101426.4(CRPPA):c.1128T>C (p.Phe376=) rs1403975634 0.00001
NM_001101426.4(CRPPA):c.1146A>G (p.Val382=) rs746837359 0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429 0.00001
NM_001101426.4(CRPPA):c.1194A>T (p.Ala398=) rs769147263 0.00001
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys) rs1325845862 0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.1251+19T>A rs751907599 0.00001
NM_001101426.4(CRPPA):c.1251+2T>C rs370373583 0.00001
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys) rs985567350 0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) rs886044370 0.00001
NM_001101426.4(CRPPA):c.1305A>G (p.Ser435=) rs1027005660 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.231C>T (p.Ile77=) rs1271300165 0.00001
NM_001101426.4(CRPPA):c.240C>T (p.Thr80=) rs1281024369 0.00001
NM_001101426.4(CRPPA):c.257+10C>A rs1391659845 0.00001
NM_001101426.4(CRPPA):c.257+17C>T rs895474080 0.00001
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu) rs751704613 0.00001
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile) rs1190661385 0.00001
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg) rs373082181 0.00001
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys) rs764542382 0.00001
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=) rs765435429 0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val) rs769346091 0.00001
NM_001101426.4(CRPPA):c.498C>A (p.Val166=) rs774132708 0.00001
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala) rs747435762 0.00001
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val) rs1330602558 0.00001
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter) rs370499190 0.00001
NM_001101426.4(CRPPA):c.570C>T (p.Val190=) rs1170483329 0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile) rs757165158 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His) rs1210618248 0.00001
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) rs1282788711 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
NM_001101426.4(CRPPA):c.685-3C>T rs776027620 0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) rs778786691 0.00001
NM_001101426.4(CRPPA):c.765A>G (p.Val255=) rs372514498 0.00001
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln) rs757986706 0.00001
NM_001101426.4(CRPPA):c.836-9T>A rs754223084 0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) rs761189549 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) rs1562603563 0.00001
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg) rs1345477841 0.00001
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro) rs747622460 0.00001
NM_001101426.4(CRPPA):c.909A>G (p.Glu303=) rs778599626 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
NM_001101426.4(CRPPA):c.934-9T>C rs771988779 0.00001
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg) rs555932095 0.00001
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) rs780620823 0.00001
NM_001101426.4(CRPPA):c.951T>C (p.Ser317=) rs1188081832 0.00001
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=) rs370052768 0.00001
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met) rs1783720553 0.00001
NC_000007.13:g.(?_16131310)_(16131434_?)dup
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131310)_(16460957_?)dup
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16348272_?)dup
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16255671)_(16317871_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16297995)_(16348272_?)del
NC_000007.13:g.(?_16297995)_(16415886_?)del
NC_000007.13:g.(?_16317734)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16341026)_(16460947_?)dup
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)dup
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)dup
NC_000007.13:g.(?_16415707)_(16415876_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)dup
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.4(CRPPA):c.1008C>T (p.Tyr336=) rs1783720072
NM_001101426.4(CRPPA):c.1017T>A (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1026+15A>G
NM_001101426.4(CRPPA):c.1026+5G>C rs762349005
NM_001101426.4(CRPPA):c.1027-18A>G
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val) rs1583472575
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn) rs2128412318
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
NM_001101426.4(CRPPA):c.1119+13A>G rs2128412301
NM_001101426.4(CRPPA):c.1119+19G>T rs755221887
NM_001101426.4(CRPPA):c.1119+3A>G rs1783701192
NM_001101426.4(CRPPA):c.1120-12T>C rs1331188356
NM_001101426.4(CRPPA):c.1120-12del
NM_001101426.4(CRPPA):c.1120-17T>C
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1120-3C>G
NM_001101426.4(CRPPA):c.1120-4G>C rs886042445
NM_001101426.4(CRPPA):c.1120-7T>C rs2128398361
NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) rs1391543167
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile) rs747075828
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr) rs571551238
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His) rs758393771
NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)
NM_001101426.4(CRPPA):c.1155T>C (p.Ser385=)
NM_001101426.4(CRPPA):c.1167A>G (p.Glu389=) rs2128398327
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg) rs1782301148
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly) rs957843384
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
NM_001101426.4(CRPPA):c.1194A>C (p.Ala398=) rs769147263
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) rs1453431411
NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
NM_001101426.4(CRPPA):c.1219T>C (p.Leu407=)
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe) rs931469039
NM_001101426.4(CRPPA):c.123G>A (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) rs1415518757
NM_001101426.4(CRPPA):c.1251+17T>A rs2128398264
NM_001101426.4(CRPPA):c.1251+7A>T
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1320A>G (p.Arg440=) rs1474282728
NM_001101426.4(CRPPA):c.1338T>A (p.Gly446=)
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=) rs1424229425
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) rs1781841345
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly) rs1788324318
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met) rs1292380177
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro) rs949985964
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg) rs949985964
NM_001101426.4(CRPPA):c.246G>A (p.Gln82=) rs2128321451
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser) rs2128321450
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.257+11G>A
NM_001101426.4(CRPPA):c.257+17C>A rs895474080
NM_001101426.4(CRPPA):c.257+7C>G
NM_001101426.4(CRPPA):c.257+8G>A rs966346002
NM_001101426.4(CRPPA):c.258-18C>T
NM_001101426.4(CRPPA):c.258-19A>G rs747712011
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.258-3T>G rs899936625
NM_001101426.4(CRPPA):c.258-8C>T rs750772320
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) rs1384501487
NM_001101426.4(CRPPA):c.288A>G (p.Ala96=) rs374684209
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys) rs1787953727
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) rs1190661385
NM_001101426.4(CRPPA):c.327T>A (p.Ile109=) rs2128318470
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp) rs1281479457
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
NM_001101426.4(CRPPA):c.351C>T (p.Ile117=)
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val) rs2128318458
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly) rs1472549168
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
NM_001101426.4(CRPPA):c.381C>T (p.His127=)
NM_001101426.4(CRPPA):c.384G>A (p.Arg128=) rs759742555
NM_001101426.4(CRPPA):c.387A>C (p.Ser129=)
NM_001101426.4(CRPPA):c.393C>T (p.Phe131=)
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr) rs2128318452
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.411G>C (p.Leu137=)
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser) rs1787948983
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) rs1554363950
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
NM_001101426.4(CRPPA):c.441T>C (p.Ser147=)
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile) rs2128318425
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile) rs762819997
NM_001101426.4(CRPPA):c.509T>G (p.Val170Gly)
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys) rs2128318414
NM_001101426.4(CRPPA):c.534+13dup
NM_001101426.4(CRPPA):c.534+18A>G rs2128318410
NM_001101426.4(CRPPA):c.534+1del
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=) rs200798632
NM_001101426.4(CRPPA):c.535-20T>G rs2128312096
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) rs370499190
NM_001101426.4(CRPPA):c.561A>T (p.Val187=) rs376375569
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) rs1786881434
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser) rs1275411039
NM_001101426.4(CRPPA):c.585T>G (p.Ala195=)
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) rs1198960792
NM_001101426.4(CRPPA):c.606G>C (p.Ser202=)
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
NM_001101426.4(CRPPA):c.621A>G (p.Arg207=)
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala) rs2128312067
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) rs1786876478
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.654A>C (p.Leu218=)
NM_001101426.4(CRPPA):c.657T>C (p.Phe219=)
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly) rs769223335
NM_001101426.4(CRPPA):c.669T>C (p.Tyr223=)
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) rs1786875241
NM_001101426.4(CRPPA):c.684+11G>A
NM_001101426.4(CRPPA):c.684+12G>A rs376232862
NM_001101426.4(CRPPA):c.684+13G>A
NM_001101426.4(CRPPA):c.684+14C>G
NM_001101426.4(CRPPA):c.684+16T>C
NM_001101426.4(CRPPA):c.685-25GTT[4] rs142647500
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr) rs2128424737
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His) rs1784967390
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) rs781097746
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
NM_001101426.4(CRPPA):c.711A>G (p.Gly237=)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser) rs397515409
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001101426.4(CRPPA):c.723G>A (p.Leu241=) rs754775519
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe) rs1784965639
NM_001101426.4(CRPPA):c.735A>G (p.Leu245=)
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg) rs1583508021
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala) rs2128424716
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
NM_001101426.4(CRPPA):c.789+10A>T
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.789+89A>C
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.816G>T (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu) rs1784787407
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.835+14T>G
NM_001101426.4(CRPPA):c.836-16T>A
NM_001101426.4(CRPPA):c.836-16_836-15insC
NM_001101426.4(CRPPA):c.836-19_836-18dup rs3839757
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
NM_001101426.4(CRPPA):c.861A>C (p.Val287=)
NM_001101426.4(CRPPA):c.864T>C (p.Val288=)
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn) rs1784249249
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) rs764380983
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.888A>G (p.Lys296=)
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys) rs373890080
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.933+1G>A rs1784247205
NM_001101426.4(CRPPA):c.933+5G>C rs1554305652
NM_001101426.4(CRPPA):c.934-14T>A
NM_001101426.4(CRPPA):c.934-16T>C
NM_001101426.4(CRPPA):c.934-4C>A
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.934-6T>A
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.963T>C (p.Gly321=)
NM_001101426.4(CRPPA):c.981T>A (p.Leu327=)
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr) rs369141466
NM_001101426.4(CRPPA):c.994T>C (p.Leu332=) rs2128412518
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu) rs376909665

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