Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428718G>ACA428873372PROCc.1158G>A (p.Leu386=)
n.482G>A
c.1260G>A (p.Leu420=)
c.1341G>A (p.Leu447=)
c.1323G>A (p.Leu441=)
c.1221G>A (p.Leu407=)
n.1332-454C>T
c.1401G>A (p.Leu467=)
c.1503G>A (p.Leu501=)
c.1443G>A (p.Leu481=)
n.3607-454C>T
n.4043-454C>T
c.1326G>A (p.Leu442=)
c.1344G>A (p.Leu448=)
c.1101G>A (p.Leu367=)
c.1134G>A (p.Leu378=)
c.1152G>A (p.Leu384=)
2g.127428718G>CCA428873374PROCc.1158G>C (p.Leu386=)
n.482G>C
c.1260G>C (p.Leu420=)
c.1341G>C (p.Leu447=)
c.1323G>C (p.Leu441=)
c.1221G>C (p.Leu407=)
n.1332-454C>G
c.1401G>C (p.Leu467=)
c.1503G>C (p.Leu501=)
c.1443G>C (p.Leu481=)
n.3607-454C>G
n.4043-454C>G
c.1326G>C (p.Leu442=)
c.1344G>C (p.Leu448=)
c.1101G>C (p.Leu367=)
c.1134G>C (p.Leu378=)
c.1152G>C (p.Leu384=)
gnomAD
2g.127428718G=CA1286884603PROCc.1158G= (p.Leu386=)
n.482G=
c.1260G= (p.Leu420=)
c.1341G= (p.Leu447=)
c.1323G= (p.Leu441=)
c.1221G= (p.Leu407=)
n.1332-454C=
c.1401G= (p.Leu467=)
c.1503G= (p.Leu501=)
c.1443G= (p.Leu481=)
n.3607-454C=
n.4043-454C=
c.1326G= (p.Leu442=)
c.1344G= (p.Leu448=)
c.1101G= (p.Leu367=)
c.1134G= (p.Leu378=)
c.1152G= (p.Leu384=)
2g.127428718G>TCA428873373PROCc.1158G>T (p.Leu386=)
n.482G>T
c.1260G>T (p.Leu420=)
c.1341G>T (p.Leu447=)
c.1323G>T (p.Leu441=)
c.1221G>T (p.Leu407=)
n.1332-454C>A
c.1401G>T (p.Leu467=)
c.1503G>T (p.Leu501=)
c.1443G>T (p.Leu481=)
n.3607-454C>A
n.4043-454C>A
c.1326G>T (p.Leu442=)
c.1344G>T (p.Leu448=)
c.1101G>T (p.Leu367=)
c.1134G>T (p.Leu378=)
c.1152G>T (p.Leu384=)
2g.127428719T>ACA348406063PROCc.1159T>A (p.Cys387Ser)
n.483T>A
c.1261T>A (p.Cys421Ser)
c.1342T>A (p.Cys448Ser)
c.1324T>A (p.Cys442Ser)
c.1222T>A (p.Cys408Ser)
n.1332-455A>T
c.1402T>A (p.Cys468Ser)
c.1504T>A (p.Cys502Ser)
c.1444T>A (p.Cys482Ser)
n.3607-455A>T
n.4043-455A>T
c.1327T>A (p.Cys443Ser)
c.1345T>A (p.Cys449Ser)
c.1102T>A (p.Cys368Ser)
c.1135T>A (p.Cys379Ser)
c.1153T>A (p.Cys385Ser)
2g.127428719T>CCA348406067PROCc.1159T>C (p.Cys387Arg)
n.483T>C
c.1261T>C (p.Cys421Arg)
c.1342T>C (p.Cys448Arg)
c.1324T>C (p.Cys442Arg)
c.1222T>C (p.Cys408Arg)
n.1332-455A>G
c.1402T>C (p.Cys468Arg)
c.1504T>C (p.Cys502Arg)
c.1444T>C (p.Cys482Arg)
n.3607-455A>G
n.4043-455A>G
c.1327T>C (p.Cys443Arg)
c.1345T>C (p.Cys449Arg)
c.1102T>C (p.Cys368Arg)
c.1135T>C (p.Cys379Arg)
c.1153T>C (p.Cys385Arg)
2g.127428719T>GCA348406064PROCc.1159T>G (p.Cys387Gly)
n.483T>G
c.1261T>G (p.Cys421Gly)
c.1342T>G (p.Cys448Gly)
c.1324T>G (p.Cys442Gly)
c.1222T>G (p.Cys408Gly)
n.1332-455A>C
c.1402T>G (p.Cys468Gly)
c.1504T>G (p.Cys502Gly)
c.1444T>G (p.Cys482Gly)
n.3607-455A>C
n.4043-455A>C
c.1327T>G (p.Cys443Gly)
c.1345T>G (p.Cys449Gly)
c.1102T>G (p.Cys368Gly)
c.1135T>G (p.Cys379Gly)
c.1153T>G (p.Cys385Gly)
2g.127428720G>ACA348406069PROCc.1160G>A (p.Cys387Tyr)
n.484G>A
c.1262G>A (p.Cys421Tyr)
c.1343G>A (p.Cys448Tyr)
c.1325G>A (p.Cys442Tyr)
c.1223G>A (p.Cys408Tyr)
n.1332-456C>T
c.1403G>A (p.Cys468Tyr)
c.1505G>A (p.Cys502Tyr)
c.1445G>A (p.Cys482Tyr)
n.3607-456C>T
n.4043-456C>T
c.1328G>A (p.Cys443Tyr)
c.1346G>A (p.Cys449Tyr)
c.1103G>A (p.Cys368Tyr)
c.1136G>A (p.Cys379Tyr)
c.1154G>A (p.Cys385Tyr)
2g.127428720G>CCA348406070PROCc.1160G>C (p.Cys387Ser)
n.484G>C
c.1262G>C (p.Cys421Ser)
c.1343G>C (p.Cys448Ser)
c.1325G>C (p.Cys442Ser)
c.1223G>C (p.Cys408Ser)
n.1332-456C>G
c.1403G>C (p.Cys468Ser)
c.1505G>C (p.Cys502Ser)
c.1445G>C (p.Cys482Ser)
n.3607-456C>G
n.4043-456C>G
c.1328G>C (p.Cys443Ser)
c.1346G>C (p.Cys449Ser)
c.1103G>C (p.Cys368Ser)
c.1136G>C (p.Cys379Ser)
c.1154G>C (p.Cys385Ser)
2g.127428720G>TCA348406071PROCc.1160G>T (p.Cys387Phe)
n.484G>T
c.1262G>T (p.Cys421Phe)
c.1343G>T (p.Cys448Phe)
c.1325G>T (p.Cys442Phe)
c.1223G>T (p.Cys408Phe)
n.1332-456C>A
c.1403G>T (p.Cys468Phe)
c.1505G>T (p.Cys502Phe)
c.1445G>T (p.Cys482Phe)
n.3607-456C>A
n.4043-456C>A
c.1328G>T (p.Cys443Phe)
c.1346G>T (p.Cys449Phe)
c.1103G>T (p.Cys368Phe)
c.1136G>T (p.Cys379Phe)
c.1154G>T (p.Cys385Phe)
2g.127428721T>ACA348406074PROCc.1161T>A (p.Cys387Ter)
n.485T>A
c.1263T>A (p.Cys421Ter)
c.1344T>A (p.Cys448Ter)
c.1326T>A (p.Cys442Ter)
c.1224T>A (p.Cys408Ter)
n.1332-457A>T
c.1404T>A (p.Cys468Ter)
c.1506T>A (p.Cys502Ter)
c.1446T>A (p.Cys482Ter)
n.3607-457A>T
n.4043-457A>T
c.1329T>A (p.Cys443Ter)
c.1347T>A (p.Cys449Ter)
c.1104T>A (p.Cys368Ter)
c.1137T>A (p.Cys379Ter)
c.1155T>A (p.Cys385Ter)
2g.127428721T>CCA1859533PROCc.1161T>C (p.Cys387=)
n.485T>C
c.1263T>C (p.Cys421=)
c.1344T>C (p.Cys448=)
c.1326T>C (p.Cys442=)
c.1224T>C (p.Cys408=)
n.1332-457A>G
c.1404T>C (p.Cys468=)
c.1506T>C (p.Cys502=)
c.1446T>C (p.Cys482=)
n.3607-457A>G
n.4043-457A>G
c.1329T>C (p.Cys443=)
c.1347T>C (p.Cys449=)
c.1104T>C (p.Cys368=)
c.1137T>C (p.Cys379=)
c.1155T>C (p.Cys385=)
ClinVar dbSNP ExAC gnomAD
2g.127428721T>GCA348406077PROCc.1161T>G (p.Cys387Trp)
n.485T>G
c.1263T>G (p.Cys421Trp)
c.1344T>G (p.Cys448Trp)
c.1326T>G (p.Cys442Trp)
c.1224T>G (p.Cys408Trp)
n.1332-457A>C
c.1404T>G (p.Cys468Trp)
c.1506T>G (p.Cys502Trp)
c.1446T>G (p.Cys482Trp)
n.3607-457A>C
n.4043-457A>C
c.1329T>G (p.Cys443Trp)
c.1347T>G (p.Cys449Trp)
c.1104T>G (p.Cys368Trp)
c.1137T>G (p.Cys379Trp)
c.1155T>G (p.Cys385Trp)
gnomAD
2g.127428721T=CA1286884604PROCc.1161T= (p.Cys387=)
n.485T=
c.1263T= (p.Cys421=)
c.1344T= (p.Cys448=)
c.1326T= (p.Cys442=)
c.1224T= (p.Cys408=)
n.1332-457A=
c.1404T= (p.Cys468=)
c.1506T= (p.Cys502=)
c.1446T= (p.Cys482=)
n.3607-457A=
n.4043-457A=
c.1329T= (p.Cys443=)
c.1347T= (p.Cys449=)
c.1104T= (p.Cys368=)
c.1137T= (p.Cys379=)
c.1155T= (p.Cys385=)
2g.127428722G>ACA348406080PROCc.1162G>A (p.Ala388Thr)
n.486G>A
c.1264G>A (p.Ala422Thr)
c.1345G>A (p.Ala449Thr)
c.1327G>A (p.Ala443Thr)
c.1225G>A (p.Ala409Thr)
n.1332-458C>T
c.1405G>A (p.Ala469Thr)
c.1507G>A (p.Ala503Thr)
c.1447G>A (p.Ala483Thr)
n.3607-458C>T
n.4043-458C>T
c.1330G>A (p.Ala444Thr)
c.1348G>A (p.Ala450Thr)
c.1105G>A (p.Ala369Thr)
c.1138G>A (p.Ala380Thr)
c.1156G>A (p.Ala386Thr)
2g.127428722G>CCA348406084PROCc.1162G>C (p.Ala388Pro)
n.486G>C
c.1264G>C (p.Ala422Pro)
c.1345G>C (p.Ala449Pro)
c.1327G>C (p.Ala443Pro)
c.1225G>C (p.Ala409Pro)
n.1332-458C>G
c.1405G>C (p.Ala469Pro)
c.1507G>C (p.Ala503Pro)
c.1447G>C (p.Ala483Pro)
n.3607-458C>G
n.4043-458C>G
c.1330G>C (p.Ala444Pro)
c.1348G>C (p.Ala450Pro)
c.1105G>C (p.Ala369Pro)
c.1138G>C (p.Ala380Pro)
c.1156G>C (p.Ala386Pro)
2g.127428722G>TCA348406086PROCc.1162G>T (p.Ala388Ser)
n.486G>T
c.1264G>T (p.Ala422Ser)
c.1345G>T (p.Ala449Ser)
c.1327G>T (p.Ala443Ser)
c.1225G>T (p.Ala409Ser)
n.1332-458C>A
c.1405G>T (p.Ala469Ser)
c.1507G>T (p.Ala503Ser)
c.1447G>T (p.Ala483Ser)
n.3607-458C>A
n.4043-458C>A
c.1330G>T (p.Ala444Ser)
c.1348G>T (p.Ala450Ser)
c.1105G>T (p.Ala369Ser)
c.1138G>T (p.Ala380Ser)
c.1156G>T (p.Ala386Ser)
2g.127428723C>ACA348406087PROCc.1163C>A (p.Ala388Glu)
n.487C>A
c.1265C>A (p.Ala422Glu)
c.1346C>A (p.Ala449Glu)
c.1328C>A (p.Ala443Glu)
c.1226C>A (p.Ala409Glu)
n.1332-459G>T
c.1406C>A (p.Ala469Glu)
c.1508C>A (p.Ala503Glu)
c.1448C>A (p.Ala483Glu)
n.3607-459G>T
n.4043-459G>T
c.1331C>A (p.Ala444Glu)
c.1349C>A (p.Ala450Glu)
c.1106C>A (p.Ala369Glu)
c.1139C>A (p.Ala380Glu)
c.1157C>A (p.Ala386Glu)
2g.127428723C=CA1286884605PROCc.1163C= (p.Ala388=)
n.487C=
c.1265C= (p.Ala422=)
c.1346C= (p.Ala449=)
c.1328C= (p.Ala443=)
c.1226C= (p.Ala409=)
n.1332-459G=
c.1406C= (p.Ala469=)
c.1508C= (p.Ala503=)
c.1448C= (p.Ala483=)
n.3607-459G=
n.4043-459G=
c.1331C= (p.Ala444=)
c.1349C= (p.Ala450=)
c.1106C= (p.Ala369=)
c.1139C= (p.Ala380=)
c.1157C= (p.Ala386=)
2g.127428723C>GCA1859534PROCc.1163C>G (p.Ala388Gly)
n.487C>G
c.1265C>G (p.Ala422Gly)
c.1346C>G (p.Ala449Gly)
c.1328C>G (p.Ala443Gly)
c.1226C>G (p.Ala409Gly)
n.1332-459G>C
c.1406C>G (p.Ala469Gly)
c.1508C>G (p.Ala503Gly)
c.1448C>G (p.Ala483Gly)
n.3607-459G>C
n.4043-459G>C
c.1331C>G (p.Ala444Gly)
c.1349C>G (p.Ala450Gly)
c.1106C>G (p.Ala369Gly)
c.1139C>G (p.Ala380Gly)
c.1157C>G (p.Ala386Gly)
dbSNP ExAC gnomAD
2g.127428723C>TCA55351245PROCc.1163C>T (p.Ala388Val)
n.487C>T
c.1265C>T (p.Ala422Val)
c.1346C>T (p.Ala449Val)
c.1328C>T (p.Ala443Val)
c.1226C>T (p.Ala409Val)
n.1332-459G>A
c.1406C>T (p.Ala469Val)
c.1508C>T (p.Ala503Val)
c.1448C>T (p.Ala483Val)
n.3607-459G>A
n.4043-459G>A
c.1331C>T (p.Ala444Val)
c.1349C>T (p.Ala450Val)
c.1106C>T (p.Ala369Val)
c.1139C>T (p.Ala380Val)
c.1157C>T (p.Ala386Val)
ClinVar dbSNP gnomAD
2g.127428724G>ACA1859535PROCc.1164G>A (p.Ala388=)
n.488G>A
c.1266G>A (p.Ala422=)
c.1347G>A (p.Ala449=)
c.1329G>A (p.Ala443=)
c.1227G>A (p.Ala409=)
n.1332-460C>T
c.1407G>A (p.Ala469=)
c.1509G>A (p.Ala503=)
c.1449G>A (p.Ala483=)
n.3607-460C>T
n.4043-460C>T
c.1332G>A (p.Ala444=)
c.1350G>A (p.Ala450=)
c.1107G>A (p.Ala369=)
c.1140G>A (p.Ala380=)
c.1158G>A (p.Ala386=)
dbSNP ExAC gnomAD
2g.127428724G>CCA428873411PROCc.1164G>C (p.Ala388=)
n.488G>C
c.1266G>C (p.Ala422=)
c.1347G>C (p.Ala449=)
c.1329G>C (p.Ala443=)
c.1227G>C (p.Ala409=)
n.1332-460C>G
c.1407G>C (p.Ala469=)
c.1509G>C (p.Ala503=)
c.1449G>C (p.Ala483=)
n.3607-460C>G
n.4043-460C>G
c.1332G>C (p.Ala444=)
c.1350G>C (p.Ala450=)
c.1107G>C (p.Ala369=)
c.1140G>C (p.Ala380=)
c.1158G>C (p.Ala386=)
gnomAD
2g.127428724G=CA1286884606PROCc.1164G= (p.Ala388=)
n.488G=
c.1266G= (p.Ala422=)
c.1347G= (p.Ala449=)
c.1329G= (p.Ala443=)
c.1227G= (p.Ala409=)
n.1332-460C=
c.1407G= (p.Ala469=)
c.1509G= (p.Ala503=)
c.1449G= (p.Ala483=)
n.3607-460C=
n.4043-460C=
c.1332G= (p.Ala444=)
c.1350G= (p.Ala450=)
c.1107G= (p.Ala369=)
c.1140G= (p.Ala380=)
c.1158G= (p.Ala386=)
2g.127428724G>TCA428873413PROCc.1164G>T (p.Ala388=)
n.488G>T
c.1266G>T (p.Ala422=)
c.1347G>T (p.Ala449=)
c.1329G>T (p.Ala443=)
c.1227G>T (p.Ala409=)
n.1332-460C>A
c.1407G>T (p.Ala469=)
c.1509G>T (p.Ala503=)
c.1449G>T (p.Ala483=)
n.3607-460C>A
n.4043-460C>A
c.1332G>T (p.Ala444=)
c.1350G>T (p.Ala450=)
c.1107G>T (p.Ala369=)
c.1140G>T (p.Ala380=)
c.1158G>T (p.Ala386=)
2g.127428725G>ACA348406092PROCc.1165G>A (p.Gly389Ser)
n.489G>A
c.1267G>A (p.Gly423Ser)
c.1348G>A (p.Gly450Ser)
c.1330G>A (p.Gly444Ser)
c.1228G>A (p.Gly410Ser)
n.1332-461C>T
c.1408G>A (p.Gly470Ser)
c.1510G>A (p.Gly504Ser)
c.1450G>A (p.Gly484Ser)
n.3607-461C>T
n.4043-461C>T
c.1333G>A (p.Gly445Ser)
c.1351G>A (p.Gly451Ser)
c.1108G>A (p.Gly370Ser)
c.1141G>A (p.Gly381Ser)
c.1159G>A (p.Gly387Ser)
2g.127428725G>CCA348406094PROCc.1165G>C (p.Gly389Arg)
n.489G>C
c.1267G>C (p.Gly423Arg)
c.1348G>C (p.Gly450Arg)
c.1330G>C (p.Gly444Arg)
c.1228G>C (p.Gly410Arg)
n.1332-461C>G
c.1408G>C (p.Gly470Arg)
c.1510G>C (p.Gly504Arg)
c.1450G>C (p.Gly484Arg)
n.3607-461C>G
n.4043-461C>G
c.1333G>C (p.Gly445Arg)
c.1351G>C (p.Gly451Arg)
c.1108G>C (p.Gly370Arg)
c.1141G>C (p.Gly381Arg)
c.1159G>C (p.Gly387Arg)
2g.127428725G>TCA348406095PROCc.1165G>T (p.Gly389Cys)
n.489G>T
c.1267G>T (p.Gly423Cys)
c.1348G>T (p.Gly450Cys)
c.1330G>T (p.Gly444Cys)
c.1228G>T (p.Gly410Cys)
n.1332-461C>A
c.1408G>T (p.Gly470Cys)
c.1510G>T (p.Gly504Cys)
c.1450G>T (p.Gly484Cys)
n.3607-461C>A
n.4043-461C>A
c.1333G>T (p.Gly445Cys)
c.1351G>T (p.Gly451Cys)
c.1108G>T (p.Gly370Cys)
c.1141G>T (p.Gly381Cys)
c.1159G>T (p.Gly387Cys)
2g.127428725_127428728delinsGGCACA1286884607PROCc.1165_1168delinsGGCA (p.Gly389=)
n.489_492delinsGGCA
c.1267_1270delinsGGCA (p.Gly423=)
c.1348_1351delinsGGCA (p.Gly450=)
c.1330_1333delinsGGCA (p.Gly444=)
c.1228_1231delinsGGCA (p.Gly410=)
n.1332-464_1332-461delinsTGCC
c.1408_1411delinsGGCA (p.Gly470=)
c.1510_1513delinsGGCA (p.Gly504=)
c.1450_1453delinsGGCA (p.Gly484=)
n.3607-464_3607-461delinsTGCC
n.4043-464_4043-461delinsTGCC
c.1333_1336delinsGGCA (p.Gly445=)
c.1351_1354delinsGGCA (p.Gly451=)
c.1108_1111delinsGGCA (p.Gly370=)
c.1141_1144delinsGGCA (p.Gly381=)
c.1159_1162delinsGGCA (p.Gly387=)
2g.127428726G>ACA348406096PROCc.1166G>A (p.Gly389Asp)
n.490G>A
c.1268G>A (p.Gly423Asp)
c.1349G>A (p.Gly450Asp)
c.1331G>A (p.Gly444Asp)
c.1229G>A (p.Gly410Asp)
n.1332-462C>T
c.1409G>A (p.Gly470Asp)
c.1511G>A (p.Gly504Asp)
c.1451G>A (p.Gly484Asp)
n.3607-462C>T
n.4043-462C>T
c.1334G>A (p.Gly445Asp)
c.1352G>A (p.Gly451Asp)
c.1109G>A (p.Gly370Asp)
c.1142G>A (p.Gly381Asp)
c.1160G>A (p.Gly387Asp)
2g.127428726G>CCA348406097PROCc.1166G>C (p.Gly389Ala)
n.490G>C
c.1268G>C (p.Gly423Ala)
c.1349G>C (p.Gly450Ala)
c.1331G>C (p.Gly444Ala)
c.1229G>C (p.Gly410Ala)
n.1332-462C>G
c.1409G>C (p.Gly470Ala)
c.1511G>C (p.Gly504Ala)
c.1451G>C (p.Gly484Ala)
n.3607-462C>G
n.4043-462C>G
c.1334G>C (p.Gly445Ala)
c.1352G>C (p.Gly451Ala)
c.1109G>C (p.Gly370Ala)
c.1142G>C (p.Gly381Ala)
c.1160G>C (p.Gly387Ala)
ClinVar
2g.127428726G=CA1286884608PROCc.1166G= (p.Gly389=)
n.490G=
c.1268G= (p.Gly423=)
c.1349G= (p.Gly450=)
c.1331G= (p.Gly444=)
c.1229G= (p.Gly410=)
n.1332-462C=
c.1409G= (p.Gly470=)
c.1511G= (p.Gly504=)
c.1451G= (p.Gly484=)
n.3607-462C=
n.4043-462C=
c.1334G= (p.Gly445=)
c.1352G= (p.Gly451=)
c.1109G= (p.Gly370=)
c.1142G= (p.Gly381=)
c.1160G= (p.Gly387=)
2g.127428726G>TCA348406098PROCc.1166G>T (p.Gly389Val)
n.490G>T
c.1268G>T (p.Gly423Val)
c.1349G>T (p.Gly450Val)
c.1331G>T (p.Gly444Val)
c.1229G>T (p.Gly410Val)
n.1332-462C>A
c.1409G>T (p.Gly470Val)
c.1511G>T (p.Gly504Val)
c.1451G>T (p.Gly484Val)
n.3607-462C>A
n.4043-462C>A
c.1334G>T (p.Gly445Val)
c.1352G>T (p.Gly451Val)
c.1109G>T (p.Gly370Val)
c.1142G>T (p.Gly381Val)
c.1160G>T (p.Gly387Val)
2g.127428726_127428728delCA536067747PROCc.1166_1168del (p.Gly389_Ile390delinsVal)
n.490_492del
c.1268_1270del (p.Gly423_Ile424delinsVal)
c.1349_1351del (p.Gly450_Ile451delinsVal)
c.1331_1333del (p.Gly444_Ile445delinsVal)
c.1229_1231del (p.Gly410_Ile411delinsVal)
n.1332-464_1332-462del
c.1409_1411del (p.Gly470_Ile471delinsVal)
c.1511_1513del (p.Gly504_Ile505delinsVal)
c.1451_1453del (p.Gly484_Ile485delinsVal)
n.3607-464_3607-462del
n.4043-464_4043-462del
c.1334_1336del (p.Gly445_Ile446delinsVal)
c.1352_1354del (p.Gly451_Ile452delinsVal)
c.1109_1111del (p.Gly370_Ile371delinsVal)
c.1142_1144del (p.Gly381_Ile382delinsVal)
c.1160_1162del (p.Gly387_Ile388delinsVal)
dbSNP gnomAD
2g.127428727C>ACA428873425PROCc.1167C>A (p.Gly389=)
n.491C>A
c.1269C>A (p.Gly423=)
c.1350C>A (p.Gly450=)
c.1332C>A (p.Gly444=)
c.1230C>A (p.Gly410=)
n.1332-463G>T
c.1410C>A (p.Gly470=)
c.1512C>A (p.Gly504=)
c.1452C>A (p.Gly484=)
n.3607-463G>T
n.4043-463G>T
c.1335C>A (p.Gly445=)
c.1353C>A (p.Gly451=)
c.1110C>A (p.Gly370=)
c.1143C>A (p.Gly381=)
c.1161C>A (p.Gly387=)
2g.127428727C>GCA428873426PROCc.1167C>G (p.Gly389=)
n.491C>G
c.1269C>G (p.Gly423=)
c.1350C>G (p.Gly450=)
c.1332C>G (p.Gly444=)
c.1230C>G (p.Gly410=)
n.1332-463G>C
c.1410C>G (p.Gly470=)
c.1512C>G (p.Gly504=)
c.1452C>G (p.Gly484=)
n.3607-463G>C
n.4043-463G>C
c.1335C>G (p.Gly445=)
c.1353C>G (p.Gly451=)
c.1110C>G (p.Gly370=)
c.1143C>G (p.Gly381=)
c.1161C>G (p.Gly387=)
2g.127428727C>TCA428873428PROCc.1167C>T (p.Gly389=)
n.491C>T
c.1269C>T (p.Gly423=)
c.1350C>T (p.Gly450=)
c.1332C>T (p.Gly444=)
c.1230C>T (p.Gly410=)
n.1332-463G>A
c.1410C>T (p.Gly470=)
c.1512C>T (p.Gly504=)
c.1452C>T (p.Gly484=)
n.3607-463G>A
n.4043-463G>A
c.1335C>T (p.Gly445=)
c.1353C>T (p.Gly451=)
c.1110C>T (p.Gly370=)
c.1143C>T (p.Gly381=)
c.1161C>T (p.Gly387=)
2g.127428728A>CCA348406104PROCc.1168A>C (p.Ile390Leu)
n.492A>C
c.1270A>C (p.Ile424Leu)
c.1351A>C (p.Ile451Leu)
c.1333A>C (p.Ile445Leu)
c.1231A>C (p.Ile411Leu)
n.1332-464T>G
c.1411A>C (p.Ile471Leu)
c.1513A>C (p.Ile505Leu)
c.1453A>C (p.Ile485Leu)
n.3607-464T>G
n.4043-464T>G
c.1336A>C (p.Ile446Leu)
c.1354A>C (p.Ile452Leu)
c.1111A>C (p.Ile371Leu)
c.1144A>C (p.Ile382Leu)
c.1162A>C (p.Ile388Leu)
2g.127428728A>GCA348406105PROCc.1168A>G (p.Ile390Val)
n.492A>G
c.1270A>G (p.Ile424Val)
c.1351A>G (p.Ile451Val)
c.1333A>G (p.Ile445Val)
c.1231A>G (p.Ile411Val)
n.1332-464T>C
c.1411A>G (p.Ile471Val)
c.1513A>G (p.Ile505Val)
c.1453A>G (p.Ile485Val)
n.3607-464T>C
n.4043-464T>C
c.1336A>G (p.Ile446Val)
c.1354A>G (p.Ile452Val)
c.1111A>G (p.Ile371Val)
c.1144A>G (p.Ile382Val)
c.1162A>G (p.Ile388Val)
2g.127428728A>TCA348406110PROCc.1168A>T (p.Ile390Phe)
n.492A>T
c.1270A>T (p.Ile424Phe)
c.1351A>T (p.Ile451Phe)
c.1333A>T (p.Ile445Phe)
c.1231A>T (p.Ile411Phe)
n.1332-464T>A
c.1411A>T (p.Ile471Phe)
c.1513A>T (p.Ile505Phe)
c.1453A>T (p.Ile485Phe)
n.3607-464T>A
n.4043-464T>A
c.1336A>T (p.Ile446Phe)
c.1354A>T (p.Ile452Phe)
c.1111A>T (p.Ile371Phe)
c.1144A>T (p.Ile382Phe)
c.1162A>T (p.Ile388Phe)
2g.127428729T>ACA55351258PROCc.1169T>A (p.Ile390Asn)
n.493T>A
c.1271T>A (p.Ile424Asn)
c.1352T>A (p.Ile451Asn)
c.1334T>A (p.Ile445Asn)
c.1232T>A (p.Ile411Asn)
n.1332-465A>T
c.1412T>A (p.Ile471Asn)
c.1514T>A (p.Ile505Asn)
c.1454T>A (p.Ile485Asn)
n.3607-465A>T
n.4043-465A>T
c.1337T>A (p.Ile446Asn)
c.1355T>A (p.Ile452Asn)
c.1112T>A (p.Ile371Asn)
c.1145T>A (p.Ile382Asn)
c.1163T>A (p.Ile388Asn)
dbSNP
2g.127428729T>CCA348406113PROCc.1169T>C (p.Ile390Thr)
n.493T>C
c.1271T>C (p.Ile424Thr)
c.1352T>C (p.Ile451Thr)
c.1334T>C (p.Ile445Thr)
c.1232T>C (p.Ile411Thr)
n.1332-465A>G
c.1412T>C (p.Ile471Thr)
c.1514T>C (p.Ile505Thr)
c.1454T>C (p.Ile485Thr)
n.3607-465A>G
n.4043-465A>G
c.1337T>C (p.Ile446Thr)
c.1355T>C (p.Ile452Thr)
c.1112T>C (p.Ile371Thr)
c.1145T>C (p.Ile382Thr)
c.1163T>C (p.Ile388Thr)
2g.127428729T>GCA348406114PROCc.1169T>G (p.Ile390Ser)
n.493T>G
c.1271T>G (p.Ile424Ser)
c.1352T>G (p.Ile451Ser)
c.1334T>G (p.Ile445Ser)
c.1232T>G (p.Ile411Ser)
n.1332-465A>C
c.1412T>G (p.Ile471Ser)
c.1514T>G (p.Ile505Ser)
c.1454T>G (p.Ile485Ser)
n.3607-465A>C
n.4043-465A>C
c.1337T>G (p.Ile446Ser)
c.1355T>G (p.Ile452Ser)
c.1112T>G (p.Ile371Ser)
c.1145T>G (p.Ile382Ser)
c.1163T>G (p.Ile388Ser)
2g.127428729T=CA1286884609PROCc.1169T= (p.Ile390=)
n.493T=
c.1271T= (p.Ile424=)
c.1352T= (p.Ile451=)
c.1334T= (p.Ile445=)
c.1232T= (p.Ile411=)
n.1332-465A=
c.1412T= (p.Ile471=)
c.1514T= (p.Ile505=)
c.1454T= (p.Ile485=)
n.3607-465A=
n.4043-465A=
c.1337T= (p.Ile446=)
c.1355T= (p.Ile452=)
c.1112T= (p.Ile371=)
c.1145T= (p.Ile382=)
c.1163T= (p.Ile388=)
2g.127428730C>ACA428873443PROCc.1170C>A (p.Ile390=)
n.494C>A
c.1272C>A (p.Ile424=)
c.1353C>A (p.Ile451=)
c.1335C>A (p.Ile445=)
c.1233C>A (p.Ile411=)
n.1332-466G>T
c.1413C>A (p.Ile471=)
c.1515C>A (p.Ile505=)
c.1455C>A (p.Ile485=)
n.3607-466G>T
n.4043-466G>T
c.1338C>A (p.Ile446=)
c.1356C>A (p.Ile452=)
c.1113C>A (p.Ile371=)
c.1146C>A (p.Ile382=)
c.1164C>A (p.Ile388=)
2g.127428730C=CA1286884610PROCc.1170C= (p.Ile390=)
n.494C=
c.1272C= (p.Ile424=)
c.1353C= (p.Ile451=)
c.1335C= (p.Ile445=)
c.1233C= (p.Ile411=)
n.1332-466G=
c.1413C= (p.Ile471=)
c.1515C= (p.Ile505=)
c.1455C= (p.Ile485=)
n.3607-466G=
n.4043-466G=
c.1338C= (p.Ile446=)
c.1356C= (p.Ile452=)
c.1113C= (p.Ile371=)
c.1146C= (p.Ile382=)
c.1164C= (p.Ile388=)
2g.127428730C>GCA348406115PROCc.1170C>G (p.Ile390Met)
n.494C>G
c.1272C>G (p.Ile424Met)
c.1353C>G (p.Ile451Met)
c.1335C>G (p.Ile445Met)
c.1233C>G (p.Ile411Met)
n.1332-466G>C
c.1413C>G (p.Ile471Met)
c.1515C>G (p.Ile505Met)
c.1455C>G (p.Ile485Met)
n.3607-466G>C
n.4043-466G>C
c.1338C>G (p.Ile446Met)
c.1356C>G (p.Ile452Met)
c.1113C>G (p.Ile371Met)
c.1146C>G (p.Ile382Met)
c.1164C>G (p.Ile388Met)
2g.127428730C>TCA428873448PROCc.1170C>T (p.Ile390=)
n.494C>T
c.1272C>T (p.Ile424=)
c.1353C>T (p.Ile451=)
c.1335C>T (p.Ile445=)
c.1233C>T (p.Ile411=)
n.1332-466G>A
c.1413C>T (p.Ile471=)
c.1515C>T (p.Ile505=)
c.1455C>T (p.Ile485=)
n.3607-466G>A
n.4043-466G>A
c.1338C>T (p.Ile446=)
c.1356C>T (p.Ile452=)
c.1113C>T (p.Ile371=)
c.1146C>T (p.Ile382=)
c.1164C>T (p.Ile388=)
2g.127428731C>ACA348406116PROCc.1171C>A (p.Leu391Ile)
n.495C>A
c.1273C>A (p.Leu425Ile)
c.1354C>A (p.Leu452Ile)
c.1336C>A (p.Leu446Ile)
c.1234C>A (p.Leu412Ile)
n.1332-467G>T
c.1414C>A (p.Leu472Ile)
c.1516C>A (p.Leu506Ile)
c.1456C>A (p.Leu486Ile)
n.3607-467G>T
n.4043-467G>T
c.1339C>A (p.Leu447Ile)
c.1357C>A (p.Leu453Ile)
c.1114C>A (p.Leu372Ile)
c.1147C>A (p.Leu383Ile)
c.1165C>A (p.Leu389Ile)
2g.127428731C=CA1286884611PROCc.1171C= (p.Leu391=)
n.495C=
c.1273C= (p.Leu425=)
c.1354C= (p.Leu452=)
c.1336C= (p.Leu446=)
c.1234C= (p.Leu412=)
n.1332-467G=
c.1414C= (p.Leu472=)
c.1516C= (p.Leu506=)
c.1456C= (p.Leu486=)
n.3607-467G=
n.4043-467G=
c.1339C= (p.Leu447=)
c.1357C= (p.Leu453=)
c.1114C= (p.Leu372=)
c.1147C= (p.Leu383=)
c.1165C= (p.Leu389=)

Number of alleles fetched