Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428398_127428403dupCA2586969905PROCc.838_843dup (p.Asp281_Ile282insLeuAsp)
c.162_167dup
c.940_945dup (p.Asp315_Ile316insLeuAsp)
c.1021_1026dup (p.Asp342_Ile343insLeuAsp)
c.1003_1008dup (p.Asp336_Ile337insLeuAsp)
c.901_906dup (p.Asp302_Ile303insLeuAsp)
n.1332-133_1332-128dup
c.1081_1086dup (p.Asp362_Ile363insLeuAsp)
c.1183_1188dup (p.Asp396_Ile397insLeuAsp)
c.1123_1128dup (p.Asp376_Ile377insLeuAsp)
n.3607-133_3607-128dup
n.4043-133_4043-128dup
c.1006_1011dup (p.Asp337_Ile338insLeuAsp)
c.1024_1029dup (p.Asp343_Ile344insLeuAsp)
c.781_786dup (p.Asp262_Ile263insLeuAsp)
c.814_819dup (p.Asp273_Ile274insLeuAsp)
c.832_837dup (p.Asp279_Ile280insLeuAsp)
2g.127428395G>ACA348404376PROCc.835G>A (p.Asp279Asn)
c.159G>A
c.937G>A (p.Asp313Asn)
c.1018G>A (p.Asp340Asn)
c.1000G>A (p.Asp334Asn)
c.898G>A (p.Asp300Asn)
n.1332-131C>T
c.1078G>A (p.Asp360Asn)
c.1180G>A (p.Asp394Asn)
c.1120G>A (p.Asp374Asn)
n.3607-131C>T
n.4043-131C>T
c.1003G>A (p.Asp335Asn)
c.1021G>A (p.Asp341Asn)
c.778G>A (p.Asp260Asn)
c.811G>A (p.Asp271Asn)
c.829G>A (p.Asp277Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428395G>CCA348404378PROCc.835G>C (p.Asp279His)
c.159G>C
c.937G>C (p.Asp313His)
c.1018G>C (p.Asp340His)
c.1000G>C (p.Asp334His)
c.898G>C (p.Asp300His)
n.1332-131C>G
c.1078G>C (p.Asp360His)
c.1180G>C (p.Asp394His)
c.1120G>C (p.Asp374His)
n.3607-131C>G
n.4043-131C>G
c.1003G>C (p.Asp335His)
c.1021G>C (p.Asp341His)
c.778G>C (p.Asp260His)
c.811G>C (p.Asp271His)
c.829G>C (p.Asp277His)
2g.127428395G=CA1286884447PROCc.835G= (p.Asp279=)
c.159G=
c.937G= (p.Asp313=)
c.1018G= (p.Asp340=)
c.1000G= (p.Asp334=)
c.898G= (p.Asp300=)
n.1332-131C=
c.1078G= (p.Asp360=)
c.1180G= (p.Asp394=)
c.1120G= (p.Asp374=)
n.3607-131C=
n.4043-131C=
c.1003G= (p.Asp335=)
c.1021G= (p.Asp341=)
c.778G= (p.Asp260=)
c.811G= (p.Asp271=)
c.829G= (p.Asp277=)
2g.127428395G>TCA348404380PROCc.835G>T (p.Asp279Tyr)
c.159G>T
c.937G>T (p.Asp313Tyr)
c.1018G>T (p.Asp340Tyr)
c.1000G>T (p.Asp334Tyr)
c.898G>T (p.Asp300Tyr)
n.1332-131C>A
c.1078G>T (p.Asp360Tyr)
c.1180G>T (p.Asp394Tyr)
c.1120G>T (p.Asp374Tyr)
n.3607-131C>A
n.4043-131C>A
c.1003G>T (p.Asp335Tyr)
c.1021G>T (p.Asp341Tyr)
c.778G>T (p.Asp260Tyr)
c.811G>T (p.Asp271Tyr)
c.829G>T (p.Asp277Tyr)
2g.127428396A>CCA348404384PROCc.836A>C (p.Asp279Ala)
c.160A>C
c.938A>C (p.Asp313Ala)
c.1019A>C (p.Asp340Ala)
c.1001A>C (p.Asp334Ala)
c.899A>C (p.Asp300Ala)
n.1332-132T>G
c.1079A>C (p.Asp360Ala)
c.1181A>C (p.Asp394Ala)
c.1121A>C (p.Asp374Ala)
n.3607-132T>G
n.4043-132T>G
c.1004A>C (p.Asp335Ala)
c.1022A>C (p.Asp341Ala)
c.779A>C (p.Asp260Ala)
c.812A>C (p.Asp271Ala)
c.830A>C (p.Asp277Ala)
2g.127428396A>GCA348404386PROCc.836A>G (p.Asp279Gly)
c.160A>G
c.938A>G (p.Asp313Gly)
c.1019A>G (p.Asp340Gly)
c.1001A>G (p.Asp334Gly)
c.899A>G (p.Asp300Gly)
n.1332-132T>C
c.1079A>G (p.Asp360Gly)
c.1181A>G (p.Asp394Gly)
c.1121A>G (p.Asp374Gly)
n.3607-132T>C
n.4043-132T>C
c.1004A>G (p.Asp335Gly)
c.1022A>G (p.Asp341Gly)
c.779A>G (p.Asp260Gly)
c.812A>G (p.Asp271Gly)
c.830A>G (p.Asp277Gly)
2g.127428396A>TCA348404382PROCc.836A>T (p.Asp279Val)
c.160A>T
c.938A>T (p.Asp313Val)
c.1019A>T (p.Asp340Val)
c.1001A>T (p.Asp334Val)
c.899A>T (p.Asp300Val)
n.1332-132T>A
c.1079A>T (p.Asp360Val)
c.1181A>T (p.Asp394Val)
c.1121A>T (p.Asp374Val)
n.3607-132T>A
n.4043-132T>A
c.1004A>T (p.Asp335Val)
c.1022A>T (p.Asp341Val)
c.779A>T (p.Asp260Val)
c.812A>T (p.Asp271Val)
c.830A>T (p.Asp277Val)
2g.127428397C>ACA348404388PROCc.837C>A (p.Asp279Glu)
c.161C>A
c.939C>A (p.Asp313Glu)
c.1020C>A (p.Asp340Glu)
c.1002C>A (p.Asp334Glu)
c.900C>A (p.Asp300Glu)
n.1332-133G>T
c.1080C>A (p.Asp360Glu)
c.1182C>A (p.Asp394Glu)
c.1122C>A (p.Asp374Glu)
n.3607-133G>T
n.4043-133G>T
c.1005C>A (p.Asp335Glu)
c.1023C>A (p.Asp341Glu)
c.780C>A (p.Asp260Glu)
c.813C>A (p.Asp271Glu)
c.831C>A (p.Asp277Glu)
 ClinVar gnomAD v4 COSMIC
2g.127428397C=CA1286884448PROCc.837C= (p.Asp279=)
c.161C=
c.939C= (p.Asp313=)
c.1020C= (p.Asp340=)
c.1002C= (p.Asp334=)
c.900C= (p.Asp300=)
n.1332-133G=
c.1080C= (p.Asp360=)
c.1182C= (p.Asp394=)
c.1122C= (p.Asp374=)
n.3607-133G=
n.4043-133G=
c.1005C= (p.Asp335=)
c.1023C= (p.Asp341=)
c.780C= (p.Asp260=)
c.813C= (p.Asp271=)
c.831C= (p.Asp277=)
2g.127428397C>GCA348404390PROCc.837C>G (p.Asp279Glu)
c.161C>G
c.939C>G (p.Asp313Glu)
c.1020C>G (p.Asp340Glu)
c.1002C>G (p.Asp334Glu)
c.900C>G (p.Asp300Glu)
n.1332-133G>C
c.1080C>G (p.Asp360Glu)
c.1182C>G (p.Asp394Glu)
c.1122C>G (p.Asp374Glu)
n.3607-133G>C
n.4043-133G>C
c.1005C>G (p.Asp335Glu)
c.1023C>G (p.Asp341Glu)
c.780C>G (p.Asp260Glu)
c.813C>G (p.Asp271Glu)
c.831C>G (p.Asp277Glu)
2g.127428397C>TCA1859469PROCc.837C>T (p.Asp279=)
c.161C>T
c.939C>T (p.Asp313=)
c.1020C>T (p.Asp340=)
c.1002C>T (p.Asp334=)
c.900C>T (p.Asp300=)
n.1332-133G>A
c.1080C>T (p.Asp360=)
c.1182C>T (p.Asp394=)
c.1122C>T (p.Asp374=)
n.3607-133G>A
n.4043-133G>A
c.1005C>T (p.Asp335=)
c.1023C>T (p.Asp341=)
c.780C>T (p.Asp260=)
c.813C>T (p.Asp271=)
c.831C>T (p.Asp277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428398C>ACA348404393PROCc.838C>A (p.Leu280Met)
c.162C>A
c.940C>A (p.Leu314Met)
c.1021C>A (p.Leu341Met)
c.1003C>A (p.Leu335Met)
c.901C>A (p.Leu301Met)
n.1332-134G>T
c.1081C>A (p.Leu361Met)
c.1183C>A (p.Leu395Met)
c.1123C>A (p.Leu375Met)
n.3607-134G>T
n.4043-134G>T
c.1006C>A (p.Leu336Met)
c.1024C>A (p.Leu342Met)
c.781C>A (p.Leu261Met)
c.814C>A (p.Leu272Met)
c.832C>A (p.Leu278Met)
2g.127428398C>GCA348404394PROCc.838C>G (p.Leu280Val)
c.162C>G
c.940C>G (p.Leu314Val)
c.1021C>G (p.Leu341Val)
c.1003C>G (p.Leu335Val)
c.901C>G (p.Leu301Val)
n.1332-134G>C
c.1081C>G (p.Leu361Val)
c.1183C>G (p.Leu395Val)
c.1123C>G (p.Leu375Val)
n.3607-134G>C
n.4043-134G>C
c.1006C>G (p.Leu336Val)
c.1024C>G (p.Leu342Val)
c.781C>G (p.Leu261Val)
c.814C>G (p.Leu272Val)
c.832C>G (p.Leu278Val)
 gnomAD v4
2g.127428398C>TCA428618879PROCc.838C>T (p.Leu280=)
c.162C>T
c.940C>T (p.Leu314=)
c.1021C>T (p.Leu341=)
c.1003C>T (p.Leu335=)
c.901C>T (p.Leu301=)
n.1332-134G>A
c.1081C>T (p.Leu361=)
c.1183C>T (p.Leu395=)
c.1123C>T (p.Leu375=)
n.3607-134G>A
n.4043-134G>A
c.1006C>T (p.Leu336=)
c.1024C>T (p.Leu342=)
c.781C>T (p.Leu261=)
c.814C>T (p.Leu272=)
c.832C>T (p.Leu278=)
2g.127428399T>ACA348404400PROCc.839T>A (p.Leu280Gln)
c.163T>A
c.941T>A (p.Leu314Gln)
c.1022T>A (p.Leu341Gln)
c.1004T>A (p.Leu335Gln)
c.902T>A (p.Leu301Gln)
n.1332-135A>T
c.1082T>A (p.Leu361Gln)
c.1184T>A (p.Leu395Gln)
c.1124T>A (p.Leu375Gln)
n.3607-135A>T
n.4043-135A>T
c.1007T>A (p.Leu336Gln)
c.1025T>A (p.Leu342Gln)
c.782T>A (p.Leu261Gln)
c.815T>A (p.Leu272Gln)
c.833T>A (p.Leu278Gln)
2g.127428399T>CCA348404396PROCc.839T>C (p.Leu280Pro)
c.163T>C
c.941T>C (p.Leu314Pro)
c.1022T>C (p.Leu341Pro)
c.1004T>C (p.Leu335Pro)
c.902T>C (p.Leu301Pro)
n.1332-135A>G
c.1082T>C (p.Leu361Pro)
c.1184T>C (p.Leu395Pro)
c.1124T>C (p.Leu375Pro)
n.3607-135A>G
n.4043-135A>G
c.1007T>C (p.Leu336Pro)
c.1025T>C (p.Leu342Pro)
c.782T>C (p.Leu261Pro)
c.815T>C (p.Leu272Pro)
c.833T>C (p.Leu278Pro)
 gnomAD v4
2g.127428399T>GCA348404398PROCc.839T>G (p.Leu280Arg)
c.163T>G
c.941T>G (p.Leu314Arg)
c.1022T>G (p.Leu341Arg)
c.1004T>G (p.Leu335Arg)
c.902T>G (p.Leu301Arg)
n.1332-135A>C
c.1082T>G (p.Leu361Arg)
c.1184T>G (p.Leu395Arg)
c.1124T>G (p.Leu375Arg)
n.3607-135A>C
n.4043-135A>C
c.1007T>G (p.Leu336Arg)
c.1025T>G (p.Leu342Arg)
c.782T>G (p.Leu261Arg)
c.815T>G (p.Leu272Arg)
c.833T>G (p.Leu278Arg)
2g.127428400G>ACA428618881PROCc.840G>A (p.Leu280=)
c.164G>A
c.942G>A (p.Leu314=)
c.1023G>A (p.Leu341=)
c.1005G>A (p.Leu335=)
c.903G>A (p.Leu301=)
n.1332-136C>T
c.1083G>A (p.Leu361=)
c.1185G>A (p.Leu395=)
c.1125G>A (p.Leu375=)
n.3607-136C>T
n.4043-136C>T
c.1008G>A (p.Leu336=)
c.1026G>A (p.Leu342=)
c.783G>A (p.Leu261=)
c.816G>A (p.Leu272=)
c.834G>A (p.Leu278=)
2g.127428400G>CCA428618882PROCc.840G>C (p.Leu280=)
c.164G>C
c.942G>C (p.Leu314=)
c.1023G>C (p.Leu341=)
c.1005G>C (p.Leu335=)
c.903G>C (p.Leu301=)
n.1332-136C>G
c.1083G>C (p.Leu361=)
c.1185G>C (p.Leu395=)
c.1125G>C (p.Leu375=)
n.3607-136C>G
n.4043-136C>G
c.1008G>C (p.Leu336=)
c.1026G>C (p.Leu342=)
c.783G>C (p.Leu261=)
c.816G>C (p.Leu272=)
c.834G>C (p.Leu278=)
2g.127428400G>TCA428618883PROCc.840G>T (p.Leu280=)
c.164G>T
c.942G>T (p.Leu314=)
c.1023G>T (p.Leu341=)
c.1005G>T (p.Leu335=)
c.903G>T (p.Leu301=)
n.1332-136C>A
c.1083G>T (p.Leu361=)
c.1185G>T (p.Leu395=)
c.1125G>T (p.Leu375=)
n.3607-136C>A
n.4043-136C>A
c.1008G>T (p.Leu336=)
c.1026G>T (p.Leu342=)
c.783G>T (p.Leu261=)
c.816G>T (p.Leu272=)
c.834G>T (p.Leu278=)
2g.127428401G>ACA348404402PROCc.841G>A (p.Asp281Asn)
c.165G>A
c.943G>A (p.Asp315Asn)
c.1024G>A (p.Asp342Asn)
c.1006G>A (p.Asp336Asn)
c.904G>A (p.Asp302Asn)
n.1332-137C>T
c.1084G>A (p.Asp362Asn)
c.1186G>A (p.Asp396Asn)
c.1126G>A (p.Asp376Asn)
n.3607-137C>T
n.4043-137C>T
c.1009G>A (p.Asp337Asn)
c.1027G>A (p.Asp343Asn)
c.784G>A (p.Asp262Asn)
c.817G>A (p.Asp273Asn)
c.835G>A (p.Asp279Asn)
 gnomAD v4
2g.127428401G>CCA348404404PROCc.841G>C (p.Asp281His)
c.165G>C
c.943G>C (p.Asp315His)
c.1024G>C (p.Asp342His)
c.1006G>C (p.Asp336His)
c.904G>C (p.Asp302His)
n.1332-137C>G
c.1084G>C (p.Asp362His)
c.1186G>C (p.Asp396His)
c.1126G>C (p.Asp376His)
n.3607-137C>G
n.4043-137C>G
c.1009G>C (p.Asp337His)
c.1027G>C (p.Asp343His)
c.784G>C (p.Asp262His)
c.817G>C (p.Asp273His)
c.835G>C (p.Asp279His)
2g.127428401G>TCA348404406PROCc.841G>T (p.Asp281Tyr)
c.165G>T
c.943G>T (p.Asp315Tyr)
c.1024G>T (p.Asp342Tyr)
c.1006G>T (p.Asp336Tyr)
c.904G>T (p.Asp302Tyr)
n.1332-137C>A
c.1084G>T (p.Asp362Tyr)
c.1186G>T (p.Asp396Tyr)
c.1126G>T (p.Asp376Tyr)
n.3607-137C>A
n.4043-137C>A
c.1009G>T (p.Asp337Tyr)
c.1027G>T (p.Asp343Tyr)
c.784G>T (p.Asp262Tyr)
c.817G>T (p.Asp273Tyr)
c.835G>T (p.Asp279Tyr)
2g.127428402A=CA1286884449PROCc.842A= (p.Asp281=)
c.166A=
c.944A= (p.Asp315=)
c.1025A= (p.Asp342=)
c.1007A= (p.Asp336=)
c.905A= (p.Asp302=)
n.1332-138T=
c.1085A= (p.Asp362=)
c.1187A= (p.Asp396=)
c.1127A= (p.Asp376=)
n.3607-138T=
n.4043-138T=
c.1010A= (p.Asp337=)
c.1028A= (p.Asp343=)
c.785A= (p.Asp262=)
c.818A= (p.Asp273=)
c.836A= (p.Asp279=)
2g.127428402A>CCA348404408PROCc.842A>C (p.Asp281Ala)
c.166A>C
c.944A>C (p.Asp315Ala)
c.1025A>C (p.Asp342Ala)
c.1007A>C (p.Asp336Ala)
c.905A>C (p.Asp302Ala)
n.1332-138T>G
c.1085A>C (p.Asp362Ala)
c.1187A>C (p.Asp396Ala)
c.1127A>C (p.Asp376Ala)
n.3607-138T>G
n.4043-138T>G
c.1010A>C (p.Asp337Ala)
c.1028A>C (p.Asp343Ala)
c.785A>C (p.Asp262Ala)
c.818A>C (p.Asp273Ala)
c.836A>C (p.Asp279Ala)
2g.127428402A>GCA348404410PROCc.842A>G (p.Asp281Gly)
c.166A>G
c.944A>G (p.Asp315Gly)
c.1025A>G (p.Asp342Gly)
c.1007A>G (p.Asp336Gly)
c.905A>G (p.Asp302Gly)
n.1332-138T>C
c.1085A>G (p.Asp362Gly)
c.1187A>G (p.Asp396Gly)
c.1127A>G (p.Asp376Gly)
n.3607-138T>C
n.4043-138T>C
c.1010A>G (p.Asp337Gly)
c.1028A>G (p.Asp343Gly)
c.785A>G (p.Asp262Gly)
c.818A>G (p.Asp273Gly)
c.836A>G (p.Asp279Gly)
2g.127428402A>TCA1859470PROCc.842A>T (p.Asp281Val)
c.166A>T
c.944A>T (p.Asp315Val)
c.1025A>T (p.Asp342Val)
c.1007A>T (p.Asp336Val)
c.905A>T (p.Asp302Val)
n.1332-138T>A
c.1085A>T (p.Asp362Val)
c.1187A>T (p.Asp396Val)
c.1127A>T (p.Asp376Val)
n.3607-138T>A
n.4043-138T>A
c.1010A>T (p.Asp337Val)
c.1028A>T (p.Asp343Val)
c.785A>T (p.Asp262Val)
c.818A>T (p.Asp273Val)
c.836A>T (p.Asp279Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428403C>ACA348404415PROCc.843C>A (p.Asp281Glu)
c.167C>A
c.945C>A (p.Asp315Glu)
c.1026C>A (p.Asp342Glu)
c.1008C>A (p.Asp336Glu)
c.906C>A (p.Asp302Glu)
n.1332-139G>T
c.1086C>A (p.Asp362Glu)
c.1188C>A (p.Asp396Glu)
c.1128C>A (p.Asp376Glu)
n.3607-139G>T
n.4043-139G>T
c.1011C>A (p.Asp337Glu)
c.1029C>A (p.Asp343Glu)
c.786C>A (p.Asp262Glu)
c.819C>A (p.Asp273Glu)
c.837C>A (p.Asp279Glu)
2g.127428403C>GCA348404413PROCc.843C>G (p.Asp281Glu)
c.167C>G
c.945C>G (p.Asp315Glu)
c.1026C>G (p.Asp342Glu)
c.1008C>G (p.Asp336Glu)
c.906C>G (p.Asp302Glu)
n.1332-139G>C
c.1086C>G (p.Asp362Glu)
c.1188C>G (p.Asp396Glu)
c.1128C>G (p.Asp376Glu)
n.3607-139G>C
n.4043-139G>C
c.1011C>G (p.Asp337Glu)
c.1029C>G (p.Asp343Glu)
c.786C>G (p.Asp262Glu)
c.819C>G (p.Asp273Glu)
c.837C>G (p.Asp279Glu)
2g.127428403C>TCA428618884PROCc.843C>T (p.Asp281=)
c.167C>T
c.945C>T (p.Asp315=)
c.1026C>T (p.Asp342=)
c.1008C>T (p.Asp336=)
c.906C>T (p.Asp302=)
n.1332-139G>A
c.1086C>T (p.Asp362=)
c.1188C>T (p.Asp396=)
c.1128C>T (p.Asp376=)
n.3607-139G>A
n.4043-139G>A
c.1011C>T (p.Asp337=)
c.1029C>T (p.Asp343=)
c.786C>T (p.Asp262=)
c.819C>T (p.Asp273=)
c.837C>T (p.Asp279=)
 gnomAD v4
2g.127428404A>CCA348404418PROCc.844A>C (p.Ile282Leu)
c.168A>C
c.946A>C (p.Ile316Leu)
c.1027A>C (p.Ile343Leu)
c.1009A>C (p.Ile337Leu)
c.907A>C (p.Ile303Leu)
n.1332-140T>G
c.1087A>C (p.Ile363Leu)
c.1189A>C (p.Ile397Leu)
c.1129A>C (p.Ile377Leu)
n.3607-140T>G
n.4043-140T>G
c.1012A>C (p.Ile338Leu)
c.1030A>C (p.Ile344Leu)
c.787A>C (p.Ile263Leu)
c.820A>C (p.Ile274Leu)
c.838A>C (p.Ile280Leu)
2g.127428404A>GCA348404421PROCc.844A>G (p.Ile282Val)
c.168A>G
c.946A>G (p.Ile316Val)
c.1027A>G (p.Ile343Val)
c.1009A>G (p.Ile337Val)
c.907A>G (p.Ile303Val)
n.1332-140T>C
c.1087A>G (p.Ile363Val)
c.1189A>G (p.Ile397Val)
c.1129A>G (p.Ile377Val)
n.3607-140T>C
n.4043-140T>C
c.1012A>G (p.Ile338Val)
c.1030A>G (p.Ile344Val)
c.787A>G (p.Ile263Val)
c.820A>G (p.Ile274Val)
c.838A>G (p.Ile280Val)
 gnomAD v4
2g.127428404A>TCA348404419PROCc.844A>T (p.Ile282Phe)
c.168A>T
c.946A>T (p.Ile316Phe)
c.1027A>T (p.Ile343Phe)
c.1009A>T (p.Ile337Phe)
c.907A>T (p.Ile303Phe)
n.1332-140T>A
c.1087A>T (p.Ile363Phe)
c.1189A>T (p.Ile397Phe)
c.1129A>T (p.Ile377Phe)
n.3607-140T>A
n.4043-140T>A
c.1012A>T (p.Ile338Phe)
c.1030A>T (p.Ile344Phe)
c.787A>T (p.Ile263Phe)
c.820A>T (p.Ile274Phe)
c.838A>T (p.Ile280Phe)
2g.127428405T>ACA348404423PROCc.845T>A (p.Ile282Asn)
c.169T>A
c.947T>A (p.Ile316Asn)
c.1028T>A (p.Ile343Asn)
c.1010T>A (p.Ile337Asn)
c.908T>A (p.Ile303Asn)
n.1332-141A>T
c.1088T>A (p.Ile363Asn)
c.1190T>A (p.Ile397Asn)
c.1130T>A (p.Ile377Asn)
n.3607-141A>T
n.4043-141A>T
c.1013T>A (p.Ile338Asn)
c.1031T>A (p.Ile344Asn)
c.788T>A (p.Ile263Asn)
c.821T>A (p.Ile274Asn)
c.839T>A (p.Ile280Asn)
2g.127428405T>CCA348404425PROCc.845T>C (p.Ile282Thr)
c.169T>C
c.947T>C (p.Ile316Thr)
c.1028T>C (p.Ile343Thr)
c.1010T>C (p.Ile337Thr)
c.908T>C (p.Ile303Thr)
n.1332-141A>G
c.1088T>C (p.Ile363Thr)
c.1190T>C (p.Ile397Thr)
c.1130T>C (p.Ile377Thr)
n.3607-141A>G
n.4043-141A>G
c.1013T>C (p.Ile338Thr)
c.1031T>C (p.Ile344Thr)
c.788T>C (p.Ile263Thr)
c.821T>C (p.Ile274Thr)
c.839T>C (p.Ile280Thr)
2g.127428405T>GCA348404427PROCc.845T>G (p.Ile282Ser)
c.169T>G
c.947T>G (p.Ile316Ser)
c.1028T>G (p.Ile343Ser)
c.1010T>G (p.Ile337Ser)
c.908T>G (p.Ile303Ser)
n.1332-141A>C
c.1088T>G (p.Ile363Ser)
c.1190T>G (p.Ile397Ser)
c.1130T>G (p.Ile377Ser)
n.3607-141A>C
n.4043-141A>C
c.1013T>G (p.Ile338Ser)
c.1031T>G (p.Ile344Ser)
c.788T>G (p.Ile263Ser)
c.821T>G (p.Ile274Ser)
c.839T>G (p.Ile280Ser)
2g.127428406C>ACA428618885PROCc.846C>A (p.Ile282=)
c.170C>A
c.948C>A (p.Ile316=)
c.1029C>A (p.Ile343=)
c.1011C>A (p.Ile337=)
c.909C>A (p.Ile303=)
n.1332-142G>T
c.1089C>A (p.Ile363=)
c.1191C>A (p.Ile397=)
c.1131C>A (p.Ile377=)
n.3607-142G>T
n.4043-142G>T
c.1014C>A (p.Ile338=)
c.1032C>A (p.Ile344=)
c.789C>A (p.Ile263=)
c.822C>A (p.Ile274=)
c.840C>A (p.Ile280=)
2g.127428406C>GCA348404429PROCc.846C>G (p.Ile282Met)
c.170C>G
c.948C>G (p.Ile316Met)
c.1029C>G (p.Ile343Met)
c.1011C>G (p.Ile337Met)
c.909C>G (p.Ile303Met)
n.1332-142G>C
c.1089C>G (p.Ile363Met)
c.1191C>G (p.Ile397Met)
c.1131C>G (p.Ile377Met)
n.3607-142G>C
n.4043-142G>C
c.1014C>G (p.Ile338Met)
c.1032C>G (p.Ile344Met)
c.789C>G (p.Ile263Met)
c.822C>G (p.Ile274Met)
c.840C>G (p.Ile280Met)
2g.127428406C>TCA428618886PROCc.846C>T (p.Ile282=)
c.170C>T
c.948C>T (p.Ile316=)
c.1029C>T (p.Ile343=)
c.1011C>T (p.Ile337=)
c.909C>T (p.Ile303=)
n.1332-142G>A
c.1089C>T (p.Ile363=)
c.1191C>T (p.Ile397=)
c.1131C>T (p.Ile377=)
n.3607-142G>A
n.4043-142G>A
c.1014C>T (p.Ile338=)
c.1032C>T (p.Ile344=)
c.789C>T (p.Ile263=)
c.822C>T (p.Ile274=)
c.840C>T (p.Ile280=)
2g.127428407A=CA1286884451PROCc.847A= (p.Lys283=)
c.171A=
c.949A= (p.Lys317=)
c.1030A= (p.Lys344=)
c.1012A= (p.Lys338=)
c.910A= (p.Lys304=)
n.1332-143T=
c.1090A= (p.Lys364=)
c.1192A= (p.Lys398=)
c.1132A= (p.Lys378=)
n.3607-143T=
n.4043-143T=
c.1015A= (p.Lys339=)
c.1033A= (p.Lys345=)
c.790A= (p.Lys264=)
c.823A= (p.Lys275=)
c.841A= (p.Lys281=)
2g.127428407A>CCA348404432PROCc.847A>C (p.Lys283Gln)
c.171A>C
c.949A>C (p.Lys317Gln)
c.1030A>C (p.Lys344Gln)
c.1012A>C (p.Lys338Gln)
c.910A>C (p.Lys304Gln)
n.1332-143T>G
c.1090A>C (p.Lys364Gln)
c.1192A>C (p.Lys398Gln)
c.1132A>C (p.Lys378Gln)
n.3607-143T>G
n.4043-143T>G
c.1015A>C (p.Lys339Gln)
c.1033A>C (p.Lys345Gln)
c.790A>C (p.Lys264Gln)
c.823A>C (p.Lys275Gln)
c.841A>C (p.Lys281Gln)
2g.127428407A>GCA348404433PROCc.847A>G (p.Lys283Glu)
c.171A>G
c.949A>G (p.Lys317Glu)
c.1030A>G (p.Lys344Glu)
c.1012A>G (p.Lys338Glu)
c.910A>G (p.Lys304Glu)
n.1332-143T>C
c.1090A>G (p.Lys364Glu)
c.1192A>G (p.Lys398Glu)
c.1132A>G (p.Lys378Glu)
n.3607-143T>C
n.4043-143T>C
c.1015A>G (p.Lys339Glu)
c.1033A>G (p.Lys345Glu)
c.790A>G (p.Lys264Glu)
c.823A>G (p.Lys275Glu)
c.841A>G (p.Lys281Glu)
 dbSNP gnomAD v4
2g.127428407A>TCA348404436PROCc.847A>T (p.Lys283Ter)
c.171A>T
c.949A>T (p.Lys317Ter)
c.1030A>T (p.Lys344Ter)
c.1012A>T (p.Lys338Ter)
c.910A>T (p.Lys304Ter)
n.1332-143T>A
c.1090A>T (p.Lys364Ter)
c.1192A>T (p.Lys398Ter)
c.1132A>T (p.Lys378Ter)
n.3607-143T>A
n.4043-143T>A
c.1015A>T (p.Lys339Ter)
c.1033A>T (p.Lys345Ter)
c.790A>T (p.Lys264Ter)
c.823A>T (p.Lys275Ter)
c.841A>T (p.Lys281Ter)
2g.127428407_127428410delinsAAGGCA1286884450PROCc.847_850delinsAAGG (p.Lys283=)
c.171_174delinsAAGG
c.949_952delinsAAGG (p.Lys317=)
c.1030_1033delinsAAGG (p.Lys344=)
c.1012_1015delinsAAGG (p.Lys338=)
c.910_913delinsAAGG (p.Lys304=)
n.1332-146_1332-143delinsCCTT
c.1090_1093delinsAAGG (p.Lys364=)
c.1192_1195delinsAAGG (p.Lys398=)
c.1132_1135delinsAAGG (p.Lys378=)
n.3607-146_3607-143delinsCCTT
n.4043-146_4043-143delinsCCTT
c.1015_1018delinsAAGG (p.Lys339=)
c.1033_1036delinsAAGG (p.Lys345=)
c.790_793delinsAAGG (p.Lys264=)
c.823_826delinsAAGG (p.Lys275=)
c.841_844delinsAAGG (p.Lys281=)
2g.127428408A>CCA348404438PROCc.848A>C (p.Lys283Thr)
c.172A>C
c.950A>C (p.Lys317Thr)
c.1031A>C (p.Lys344Thr)
c.1013A>C (p.Lys338Thr)
c.911A>C (p.Lys304Thr)
n.1332-144T>G
c.1091A>C (p.Lys364Thr)
c.1193A>C (p.Lys398Thr)
c.1133A>C (p.Lys378Thr)
n.3607-144T>G
n.4043-144T>G
c.1016A>C (p.Lys339Thr)
c.1034A>C (p.Lys345Thr)
c.791A>C (p.Lys264Thr)
c.824A>C (p.Lys275Thr)
c.842A>C (p.Lys281Thr)
2g.127428408A>GCA348404440PROCc.848A>G (p.Lys283Arg)
c.172A>G
c.950A>G (p.Lys317Arg)
c.1031A>G (p.Lys344Arg)
c.1013A>G (p.Lys338Arg)
c.911A>G (p.Lys304Arg)
n.1332-144T>C
c.1091A>G (p.Lys364Arg)
c.1193A>G (p.Lys398Arg)
c.1133A>G (p.Lys378Arg)
n.3607-144T>C
n.4043-144T>C
c.1016A>G (p.Lys339Arg)
c.1034A>G (p.Lys345Arg)
c.791A>G (p.Lys264Arg)
c.824A>G (p.Lys275Arg)
c.842A>G (p.Lys281Arg)
2g.127428408A>TCA348404442PROCc.848A>T (p.Lys283Met)
c.172A>T
c.950A>T (p.Lys317Met)
c.1031A>T (p.Lys344Met)
c.1013A>T (p.Lys338Met)
c.911A>T (p.Lys304Met)
n.1332-144T>A
c.1091A>T (p.Lys364Met)
c.1193A>T (p.Lys398Met)
c.1133A>T (p.Lys378Met)
n.3607-144T>A
n.4043-144T>A
c.1016A>T (p.Lys339Met)
c.1034A>T (p.Lys345Met)
c.791A>T (p.Lys264Met)
c.824A>T (p.Lys275Met)
c.842A>T (p.Lys281Met)
2g.127428411_127428413delCA1859471PROCc.851_853del (p.Glu284del)
c.175_177del
c.953_955del (p.Glu318del)
c.1034_1036del (p.Glu345del)
c.1016_1018del (p.Glu339del)
c.914_916del (p.Glu305del)
n.1332-146_1332-144del
c.1094_1096del (p.Glu365del)
c.1196_1198del (p.Glu399del)
c.1136_1138del (p.Glu379del)
n.3607-146_3607-144del
n.4043-146_4043-144del
c.1019_1021del (p.Glu340del)
c.1037_1039del (p.Glu346del)
c.794_796del (p.Glu265del)
c.827_829del (p.Glu276del)
c.845_847del (p.Glu282del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428409G>ACA428618887PROCc.849G>A (p.Lys283=)
c.173G>A
c.951G>A (p.Lys317=)
c.1032G>A (p.Lys344=)
c.1014G>A (p.Lys338=)
c.912G>A (p.Lys304=)
n.1332-145C>T
c.1092G>A (p.Lys364=)
c.1194G>A (p.Lys398=)
c.1134G>A (p.Lys378=)
n.3607-145C>T
n.4043-145C>T
c.1017G>A (p.Lys339=)
c.1035G>A (p.Lys345=)
c.792G>A (p.Lys264=)
c.825G>A (p.Lys275=)
c.843G>A (p.Lys281=)
 COSMIC COSMIC
2g.127428409G>CCA348404446PROCc.849G>C (p.Lys283Asn)
c.173G>C
c.951G>C (p.Lys317Asn)
c.1032G>C (p.Lys344Asn)
c.1014G>C (p.Lys338Asn)
c.912G>C (p.Lys304Asn)
n.1332-145C>G
c.1092G>C (p.Lys364Asn)
c.1194G>C (p.Lys398Asn)
c.1134G>C (p.Lys378Asn)
n.3607-145C>G
n.4043-145C>G
c.1017G>C (p.Lys339Asn)
c.1035G>C (p.Lys345Asn)
c.792G>C (p.Lys264Asn)
c.825G>C (p.Lys275Asn)
c.843G>C (p.Lys281Asn)
2g.127428409G=CA1286884452PROCc.849G= (p.Lys283=)
c.173G=
c.951G= (p.Lys317=)
c.1032G= (p.Lys344=)
c.1014G= (p.Lys338=)
c.912G= (p.Lys304=)
n.1332-145C=
c.1092G= (p.Lys364=)
c.1194G= (p.Lys398=)
c.1134G= (p.Lys378=)
n.3607-145C=
n.4043-145C=
c.1017G= (p.Lys339=)
c.1035G= (p.Lys345=)
c.792G= (p.Lys264=)
c.825G= (p.Lys275=)
c.843G= (p.Lys281=)
2g.127428409G>TCA1859472PROCc.849G>T (p.Lys283Asn)
c.173G>T
c.951G>T (p.Lys317Asn)
c.1032G>T (p.Lys344Asn)
c.1014G>T (p.Lys338Asn)
c.912G>T (p.Lys304Asn)
n.1332-145C>A
c.1092G>T (p.Lys364Asn)
c.1194G>T (p.Lys398Asn)
c.1134G>T (p.Lys378Asn)
n.3607-145C>A
n.4043-145C>A
c.1017G>T (p.Lys339Asn)
c.1035G>T (p.Lys345Asn)
c.792G>T (p.Lys264Asn)
c.825G>T (p.Lys275Asn)
c.843G>T (p.Lys281Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428410G>ACA348404449PROCc.850G>A (p.Glu284Lys)
c.174G>A
c.952G>A (p.Glu318Lys)
c.1033G>A (p.Glu345Lys)
c.1015G>A (p.Glu339Lys)
c.913G>A (p.Glu305Lys)
n.1332-146C>T
c.1093G>A (p.Glu365Lys)
c.1195G>A (p.Glu399Lys)
c.1135G>A (p.Glu379Lys)
n.3607-146C>T
n.4043-146C>T
c.1018G>A (p.Glu340Lys)
c.1036G>A (p.Glu346Lys)
c.793G>A (p.Glu265Lys)
c.826G>A (p.Glu276Lys)
c.844G>A (p.Glu282Lys)
 gnomAD v4
2g.127428410G>CCA348404450PROCc.850G>C (p.Glu284Gln)
c.174G>C
c.952G>C (p.Glu318Gln)
c.1033G>C (p.Glu345Gln)
c.1015G>C (p.Glu339Gln)
c.913G>C (p.Glu305Gln)
n.1332-146C>G
c.1093G>C (p.Glu365Gln)
c.1195G>C (p.Glu399Gln)
c.1135G>C (p.Glu379Gln)
n.3607-146C>G
n.4043-146C>G
c.1018G>C (p.Glu340Gln)
c.1036G>C (p.Glu346Gln)
c.793G>C (p.Glu265Gln)
c.826G>C (p.Glu276Gln)
c.844G>C (p.Glu282Gln)
2g.127428410G>TCA348404452PROCc.850G>T (p.Glu284Ter)
c.174G>T
c.952G>T (p.Glu318Ter)
c.1033G>T (p.Glu345Ter)
c.1015G>T (p.Glu339Ter)
c.913G>T (p.Glu305Ter)
n.1332-146C>A
c.1093G>T (p.Glu365Ter)
c.1195G>T (p.Glu399Ter)
c.1135G>T (p.Glu379Ter)
n.3607-146C>A
n.4043-146C>A
c.1018G>T (p.Glu340Ter)
c.1036G>T (p.Glu346Ter)
c.793G>T (p.Glu265Ter)
c.826G>T (p.Glu276Ter)
c.844G>T (p.Glu282Ter)
2g.127428411A>CCA348404454PROCc.851A>C (p.Glu284Ala)
c.175A>C
c.953A>C (p.Glu318Ala)
c.1034A>C (p.Glu345Ala)
c.1016A>C (p.Glu339Ala)
c.914A>C (p.Glu305Ala)
n.1332-147T>G
c.1094A>C (p.Glu365Ala)
c.1196A>C (p.Glu399Ala)
c.1136A>C (p.Glu379Ala)
n.3607-147T>G
n.4043-147T>G
c.1019A>C (p.Glu340Ala)
c.1037A>C (p.Glu346Ala)
c.794A>C (p.Glu265Ala)
c.827A>C (p.Glu276Ala)
c.845A>C (p.Glu282Ala)
2g.127428411A>GCA348404456PROCc.851A>G (p.Glu284Gly)
c.175A>G
c.953A>G (p.Glu318Gly)
c.1034A>G (p.Glu345Gly)
c.1016A>G (p.Glu339Gly)
c.914A>G (p.Glu305Gly)
n.1332-147T>C
c.1094A>G (p.Glu365Gly)
c.1196A>G (p.Glu399Gly)
c.1136A>G (p.Glu379Gly)
n.3607-147T>C
n.4043-147T>C
c.1019A>G (p.Glu340Gly)
c.1037A>G (p.Glu346Gly)
c.794A>G (p.Glu265Gly)
c.827A>G (p.Glu276Gly)
c.845A>G (p.Glu282Gly)
2g.127428411A>TCA348404458PROCc.851A>T (p.Glu284Val)
c.175A>T
c.953A>T (p.Glu318Val)
c.1034A>T (p.Glu345Val)
c.1016A>T (p.Glu339Val)
c.914A>T (p.Glu305Val)
n.1332-147T>A
c.1094A>T (p.Glu365Val)
c.1196A>T (p.Glu399Val)
c.1136A>T (p.Glu379Val)
n.3607-147T>A
n.4043-147T>A
c.1019A>T (p.Glu340Val)
c.1037A>T (p.Glu346Val)
c.794A>T (p.Glu265Val)
c.827A>T (p.Glu276Val)
c.845A>T (p.Glu282Val)
2g.127428412G>ACA1859473PROCc.852G>A (p.Glu284=)
c.176G>A
c.954G>A (p.Glu318=)
c.1035G>A (p.Glu345=)
c.1017G>A (p.Glu339=)
c.915G>A (p.Glu305=)
n.1332-148C>T
c.1095G>A (p.Glu365=)
c.1197G>A (p.Glu399=)
c.1137G>A (p.Glu379=)
n.3607-148C>T
n.4043-148C>T
c.1020G>A (p.Glu340=)
c.1038G>A (p.Glu346=)
c.795G>A (p.Glu265=)
c.828G>A (p.Glu276=)
c.846G>A (p.Glu282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428412G>CCA348404461PROCc.852G>C (p.Glu284Asp)
c.176G>C
c.954G>C (p.Glu318Asp)
c.1035G>C (p.Glu345Asp)
c.1017G>C (p.Glu339Asp)
c.915G>C (p.Glu305Asp)
n.1332-148C>G
c.1095G>C (p.Glu365Asp)
c.1197G>C (p.Glu399Asp)
c.1137G>C (p.Glu379Asp)
n.3607-148C>G
n.4043-148C>G
c.1020G>C (p.Glu340Asp)
c.1038G>C (p.Glu346Asp)
c.795G>C (p.Glu265Asp)
c.828G>C (p.Glu276Asp)
c.846G>C (p.Glu282Asp)
2g.127428412G=CA1286884453PROCc.852G= (p.Glu284=)
c.176G=
c.954G= (p.Glu318=)
c.1035G= (p.Glu345=)
c.1017G= (p.Glu339=)
c.915G= (p.Glu305=)
n.1332-148C=
c.1095G= (p.Glu365=)
c.1197G= (p.Glu399=)
c.1137G= (p.Glu379=)
n.3607-148C=
n.4043-148C=
c.1020G= (p.Glu340=)
c.1038G= (p.Glu346=)
c.795G= (p.Glu265=)
c.828G= (p.Glu276=)
c.846G= (p.Glu282=)
2g.127428412G>TCA348404463PROCc.852G>T (p.Glu284Asp)
c.176G>T
c.954G>T (p.Glu318Asp)
c.1035G>T (p.Glu345Asp)
c.1017G>T (p.Glu339Asp)
c.915G>T (p.Glu305Asp)
n.1332-148C>A
c.1095G>T (p.Glu365Asp)
c.1197G>T (p.Glu399Asp)
c.1137G>T (p.Glu379Asp)
n.3607-148C>A
n.4043-148C>A
c.1020G>T (p.Glu340Asp)
c.1038G>T (p.Glu346Asp)
c.795G>T (p.Glu265Asp)
c.828G>T (p.Glu276Asp)
c.846G>T (p.Glu282Asp)
2g.127428413G>ACA348404466PROCc.853G>A (p.Val285Ile)
c.177G>A
c.955G>A (p.Val319Ile)
c.1036G>A (p.Val346Ile)
c.1018G>A (p.Val340Ile)
c.916G>A (p.Val306Ile)
n.1332-149C>T
c.1096G>A (p.Val366Ile)
c.1198G>A (p.Val400Ile)
c.1138G>A (p.Val380Ile)
n.3607-149C>T
n.4043-149C>T
c.1021G>A (p.Val341Ile)
c.1039G>A (p.Val347Ile)
c.796G>A (p.Val266Ile)
c.829G>A (p.Val277Ile)
c.847G>A (p.Val283Ile)
2g.127428413G>CCA348404467PROCc.853G>C (p.Val285Leu)
c.177G>C
c.955G>C (p.Val319Leu)
c.1036G>C (p.Val346Leu)
c.1018G>C (p.Val340Leu)
c.916G>C (p.Val306Leu)
n.1332-149C>G
c.1096G>C (p.Val366Leu)
c.1198G>C (p.Val400Leu)
c.1138G>C (p.Val380Leu)
n.3607-149C>G
n.4043-149C>G
c.1021G>C (p.Val341Leu)
c.1039G>C (p.Val347Leu)
c.796G>C (p.Val266Leu)
c.829G>C (p.Val277Leu)
c.847G>C (p.Val283Leu)
2g.127428413G>TCA348404469PROCc.853G>T (p.Val285Phe)
c.177G>T
c.955G>T (p.Val319Phe)
c.1036G>T (p.Val346Phe)
c.1018G>T (p.Val340Phe)
c.916G>T (p.Val306Phe)
n.1332-149C>A
c.1096G>T (p.Val366Phe)
c.1198G>T (p.Val400Phe)
c.1138G>T (p.Val380Phe)
n.3607-149C>A
n.4043-149C>A
c.1021G>T (p.Val341Phe)
c.1039G>T (p.Val347Phe)
c.796G>T (p.Val266Phe)
c.829G>T (p.Val277Phe)
c.847G>T (p.Val283Phe)
 gnomAD v4
2g.127428416_127428421delCA2660997776PROCc.856_861del (p.Phe286_Val287del)
c.180_185del
c.958_963del (p.Phe320_Val321del)
c.1039_1044del (p.Phe347_Val348del)
c.1021_1026del (p.Phe341_Val342del)
c.919_924del (p.Phe307_Val308del)
n.1332-154_1332-149del
c.1099_1104del (p.Phe367_Val368del)
c.1201_1206del (p.Phe401_Val402del)
c.1141_1146del (p.Phe381_Val382del)
n.3607-154_3607-149del
n.4043-154_4043-149del
c.1024_1029del (p.Phe342_Val343del)
c.1042_1047del (p.Phe348_Val349del)
c.799_804del (p.Phe267_Val268del)
c.832_837del (p.Phe278_Val279del)
c.850_855del (p.Phe284_Val285del)
 gnomAD v4
2g.127428414T>ACA348404473PROCc.854T>A (p.Val285Asp)
c.178T>A
c.956T>A (p.Val319Asp)
c.1037T>A (p.Val346Asp)
c.1019T>A (p.Val340Asp)
c.917T>A (p.Val306Asp)
n.1332-150A>T
c.1097T>A (p.Val366Asp)
c.1199T>A (p.Val400Asp)
c.1139T>A (p.Val380Asp)
n.3607-150A>T
n.4043-150A>T
c.1022T>A (p.Val341Asp)
c.1040T>A (p.Val347Asp)
c.797T>A (p.Val266Asp)
c.830T>A (p.Val277Asp)
c.848T>A (p.Val283Asp)
2g.127428414T>CCA348404475PROCc.854T>C (p.Val285Ala)
c.178T>C
c.956T>C (p.Val319Ala)
c.1037T>C (p.Val346Ala)
c.1019T>C (p.Val340Ala)
c.917T>C (p.Val306Ala)
n.1332-150A>G
c.1097T>C (p.Val366Ala)
c.1199T>C (p.Val400Ala)
c.1139T>C (p.Val380Ala)
n.3607-150A>G
n.4043-150A>G
c.1022T>C (p.Val341Ala)
c.1040T>C (p.Val347Ala)
c.797T>C (p.Val266Ala)
c.830T>C (p.Val277Ala)
c.848T>C (p.Val283Ala)
2g.127428414T>GCA348404472PROCc.854T>G (p.Val285Gly)
c.178T>G
c.956T>G (p.Val319Gly)
c.1037T>G (p.Val346Gly)
c.1019T>G (p.Val340Gly)
c.917T>G (p.Val306Gly)
n.1332-150A>C
c.1097T>G (p.Val366Gly)
c.1199T>G (p.Val400Gly)
c.1139T>G (p.Val380Gly)
n.3607-150A>C
n.4043-150A>C
c.1022T>G (p.Val341Gly)
c.1040T>G (p.Val347Gly)
c.797T>G (p.Val266Gly)
c.830T>G (p.Val277Gly)
c.848T>G (p.Val283Gly)
 dbSNP
2g.127428414T=CA1286884454PROCc.854T= (p.Val285=)
c.178T=
c.956T= (p.Val319=)
c.1037T= (p.Val346=)
c.1019T= (p.Val340=)
c.917T= (p.Val306=)
n.1332-150A=
c.1097T= (p.Val366=)
c.1199T= (p.Val400=)
c.1139T= (p.Val380=)
n.3607-150A=
n.4043-150A=
c.1022T= (p.Val341=)
c.1040T= (p.Val347=)
c.797T= (p.Val266=)
c.830T= (p.Val277=)
c.848T= (p.Val283=)
2g.127428415C>ACA428618889PROCc.855C>A (p.Val285=)
c.179C>A
c.957C>A (p.Val319=)
c.1038C>A (p.Val346=)
c.1020C>A (p.Val340=)
c.918C>A (p.Val306=)
n.1332-151G>T
c.1098C>A (p.Val366=)
c.1200C>A (p.Val400=)
c.1140C>A (p.Val380=)
n.3607-151G>T
n.4043-151G>T
c.1023C>A (p.Val341=)
c.1041C>A (p.Val347=)
c.798C>A (p.Val266=)
c.831C>A (p.Val277=)
c.849C>A (p.Val283=)
2g.127428415C>GCA428618890PROCc.855C>G (p.Val285=)
c.179C>G
c.957C>G (p.Val319=)
c.1038C>G (p.Val346=)
c.1020C>G (p.Val340=)
c.918C>G (p.Val306=)
n.1332-151G>C
c.1098C>G (p.Val366=)
c.1200C>G (p.Val400=)
c.1140C>G (p.Val380=)
n.3607-151G>C
n.4043-151G>C
c.1023C>G (p.Val341=)
c.1041C>G (p.Val347=)
c.798C>G (p.Val266=)
c.831C>G (p.Val277=)
c.849C>G (p.Val283=)
2g.127428415C>TCA428618888PROCc.855C>T (p.Val285=)
c.179C>T
c.957C>T (p.Val319=)
c.1038C>T (p.Val346=)
c.1020C>T (p.Val340=)
c.918C>T (p.Val306=)
n.1332-151G>A
c.1098C>T (p.Val366=)
c.1200C>T (p.Val400=)
c.1140C>T (p.Val380=)
n.3607-151G>A
n.4043-151G>A
c.1023C>T (p.Val341=)
c.1041C>T (p.Val347=)
c.798C>T (p.Val266=)
c.831C>T (p.Val277=)
c.849C>T (p.Val283=)
2g.127428416T>ACA348404477PROCc.856T>A (p.Phe286Ile)
c.180T>A
c.958T>A (p.Phe320Ile)
c.1039T>A (p.Phe347Ile)
c.1021T>A (p.Phe341Ile)
c.919T>A (p.Phe307Ile)
n.1332-152A>T
c.1099T>A (p.Phe367Ile)
c.1201T>A (p.Phe401Ile)
c.1141T>A (p.Phe381Ile)
n.3607-152A>T
n.4043-152A>T
c.1024T>A (p.Phe342Ile)
c.1042T>A (p.Phe348Ile)
c.799T>A (p.Phe267Ile)
c.832T>A (p.Phe278Ile)
c.850T>A (p.Phe284Ile)
2g.127428416T>CCA348404478PROCc.856T>C (p.Phe286Leu)
c.180T>C
c.958T>C (p.Phe320Leu)
c.1039T>C (p.Phe347Leu)
c.1021T>C (p.Phe341Leu)
c.919T>C (p.Phe307Leu)
n.1332-152A>G
c.1099T>C (p.Phe367Leu)
c.1201T>C (p.Phe401Leu)
c.1141T>C (p.Phe381Leu)
n.3607-152A>G
n.4043-152A>G
c.1024T>C (p.Phe342Leu)
c.1042T>C (p.Phe348Leu)
c.799T>C (p.Phe267Leu)
c.832T>C (p.Phe278Leu)
c.850T>C (p.Phe284Leu)
2g.127428416T>GCA348404481PROCc.856T>G (p.Phe286Val)
c.180T>G
c.958T>G (p.Phe320Val)
c.1039T>G (p.Phe347Val)
c.1021T>G (p.Phe341Val)
c.919T>G (p.Phe307Val)
n.1332-152A>C
c.1099T>G (p.Phe367Val)
c.1201T>G (p.Phe401Val)
c.1141T>G (p.Phe381Val)
n.3607-152A>C
n.4043-152A>C
c.1024T>G (p.Phe342Val)
c.1042T>G (p.Phe348Val)
c.799T>G (p.Phe267Val)
c.832T>G (p.Phe278Val)
c.850T>G (p.Phe284Val)
2g.127428417T>ACA348404483PROCc.857T>A (p.Phe286Tyr)
c.181T>A
c.959T>A (p.Phe320Tyr)
c.1040T>A (p.Phe347Tyr)
c.1022T>A (p.Phe341Tyr)
c.920T>A (p.Phe307Tyr)
n.1332-153A>T
c.1100T>A (p.Phe367Tyr)
c.1202T>A (p.Phe401Tyr)
c.1142T>A (p.Phe381Tyr)
n.3607-153A>T
n.4043-153A>T
c.1025T>A (p.Phe342Tyr)
c.1043T>A (p.Phe348Tyr)
c.800T>A (p.Phe267Tyr)
c.833T>A (p.Phe278Tyr)
c.851T>A (p.Phe284Tyr)
2g.127428417T>CCA348404485PROCc.857T>C (p.Phe286Ser)
c.181T>C
c.959T>C (p.Phe320Ser)
c.1040T>C (p.Phe347Ser)
c.1022T>C (p.Phe341Ser)
c.920T>C (p.Phe307Ser)
n.1332-153A>G
c.1100T>C (p.Phe367Ser)
c.1202T>C (p.Phe401Ser)
c.1142T>C (p.Phe381Ser)
n.3607-153A>G
n.4043-153A>G
c.1025T>C (p.Phe342Ser)
c.1043T>C (p.Phe348Ser)
c.800T>C (p.Phe267Ser)
c.833T>C (p.Phe278Ser)
c.851T>C (p.Phe284Ser)
 gnomAD v4
2g.127428417T>GCA348404487PROCc.857T>G (p.Phe286Cys)
c.181T>G
c.959T>G (p.Phe320Cys)
c.1040T>G (p.Phe347Cys)
c.1022T>G (p.Phe341Cys)
c.920T>G (p.Phe307Cys)
n.1332-153A>C
c.1100T>G (p.Phe367Cys)
c.1202T>G (p.Phe401Cys)
c.1142T>G (p.Phe381Cys)
n.3607-153A>C
n.4043-153A>C
c.1025T>G (p.Phe342Cys)
c.1043T>G (p.Phe348Cys)
c.800T>G (p.Phe267Cys)
c.833T>G (p.Phe278Cys)
c.851T>G (p.Phe284Cys)
2g.127428418C>ACA348404489PROCc.858C>A (p.Phe286Leu)
c.182C>A
c.960C>A (p.Phe320Leu)
c.1041C>A (p.Phe347Leu)
c.1023C>A (p.Phe341Leu)
c.921C>A (p.Phe307Leu)
n.1332-154G>T
c.1101C>A (p.Phe367Leu)
c.1203C>A (p.Phe401Leu)
c.1143C>A (p.Phe381Leu)
n.3607-154G>T
n.4043-154G>T
c.1026C>A (p.Phe342Leu)
c.1044C>A (p.Phe348Leu)
c.801C>A (p.Phe267Leu)
c.834C>A (p.Phe278Leu)
c.852C>A (p.Phe284Leu)
2g.127428418C=CA1286884455PROCc.858C= (p.Phe286=)
c.182C=
c.960C= (p.Phe320=)
c.1041C= (p.Phe347=)
c.1023C= (p.Phe341=)
c.921C= (p.Phe307=)
n.1332-154G=
c.1101C= (p.Phe367=)
c.1203C= (p.Phe401=)
c.1143C= (p.Phe381=)
n.3607-154G=
n.4043-154G=
c.1026C= (p.Phe342=)
c.1044C= (p.Phe348=)
c.801C= (p.Phe267=)
c.834C= (p.Phe278=)
c.852C= (p.Phe284=)
2g.127428418C>GCA348404491PROCc.858C>G (p.Phe286Leu)
c.182C>G
c.960C>G (p.Phe320Leu)
c.1041C>G (p.Phe347Leu)
c.1023C>G (p.Phe341Leu)
c.921C>G (p.Phe307Leu)
n.1332-154G>C
c.1101C>G (p.Phe367Leu)
c.1203C>G (p.Phe401Leu)
c.1143C>G (p.Phe381Leu)
n.3607-154G>C
n.4043-154G>C
c.1026C>G (p.Phe342Leu)
c.1044C>G (p.Phe348Leu)
c.801C>G (p.Phe267Leu)
c.834C>G (p.Phe278Leu)
c.852C>G (p.Phe284Leu)
2g.127428418C>TCA55350614PROCc.858C>T (p.Phe286=)
c.182C>T
c.960C>T (p.Phe320=)
c.1041C>T (p.Phe347=)
c.1023C>T (p.Phe341=)
c.921C>T (p.Phe307=)
n.1332-154G>A
c.1101C>T (p.Phe367=)
c.1203C>T (p.Phe401=)
c.1143C>T (p.Phe381=)
n.3607-154G>A
n.4043-154G>A
c.1026C>T (p.Phe342=)
c.1044C>T (p.Phe348=)
c.801C>T (p.Phe267=)
c.834C>T (p.Phe278=)
c.852C>T (p.Phe284=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428419G>ACA1859474PROCc.859G>A (p.Val287Ile)
c.183G>A
c.961G>A (p.Val321Ile)
c.1042G>A (p.Val348Ile)
c.1024G>A (p.Val342Ile)
c.922G>A (p.Val308Ile)
n.1332-155C>T
c.1102G>A (p.Val368Ile)
c.1204G>A (p.Val402Ile)
c.1144G>A (p.Val382Ile)
n.3607-155C>T
n.4043-155C>T
c.1027G>A (p.Val343Ile)
c.1045G>A (p.Val349Ile)
c.802G>A (p.Val268Ile)
c.835G>A (p.Val279Ile)
c.853G>A (p.Val285Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428419G>CCA348404494PROCc.859G>C (p.Val287Leu)
c.183G>C
c.961G>C (p.Val321Leu)
c.1042G>C (p.Val348Leu)
c.1024G>C (p.Val342Leu)
c.922G>C (p.Val308Leu)
n.1332-155C>G
c.1102G>C (p.Val368Leu)
c.1204G>C (p.Val402Leu)
c.1144G>C (p.Val382Leu)
n.3607-155C>G
n.4043-155C>G
c.1027G>C (p.Val343Leu)
c.1045G>C (p.Val349Leu)
c.802G>C (p.Val268Leu)
c.835G>C (p.Val279Leu)
c.853G>C (p.Val285Leu)
2g.127428419G=CA1286884456PROCc.859G= (p.Val287=)
c.183G=
c.961G= (p.Val321=)
c.1042G= (p.Val348=)
c.1024G= (p.Val342=)
c.922G= (p.Val308=)
n.1332-155C=
c.1102G= (p.Val368=)
c.1204G= (p.Val402=)
c.1144G= (p.Val382=)
n.3607-155C=
n.4043-155C=
c.1027G= (p.Val343=)
c.1045G= (p.Val349=)
c.802G= (p.Val268=)
c.835G= (p.Val279=)
c.853G= (p.Val285=)
2g.127428419G>TCA348404497PROCc.859G>T (p.Val287Phe)
c.183G>T
c.961G>T (p.Val321Phe)
c.1042G>T (p.Val348Phe)
c.1024G>T (p.Val342Phe)
c.922G>T (p.Val308Phe)
n.1332-155C>A
c.1102G>T (p.Val368Phe)
c.1204G>T (p.Val402Phe)
c.1144G>T (p.Val382Phe)
n.3607-155C>A
n.4043-155C>A
c.1027G>T (p.Val343Phe)
c.1045G>T (p.Val349Phe)
c.802G>T (p.Val268Phe)
c.835G>T (p.Val279Phe)
c.853G>T (p.Val285Phe)
2g.127428420T>ACA348404499PROCc.860T>A (p.Val287Asp)
c.184T>A
c.962T>A (p.Val321Asp)
c.1043T>A (p.Val348Asp)
c.1025T>A (p.Val342Asp)
c.923T>A (p.Val308Asp)
n.1332-156A>T
c.1103T>A (p.Val368Asp)
c.1205T>A (p.Val402Asp)
c.1145T>A (p.Val382Asp)
n.3607-156A>T
n.4043-156A>T
c.1028T>A (p.Val343Asp)
c.1046T>A (p.Val349Asp)
c.803T>A (p.Val268Asp)
c.836T>A (p.Val279Asp)
c.854T>A (p.Val285Asp)
2g.127428420T>CCA348404501PROCc.860T>C (p.Val287Ala)
c.184T>C
c.962T>C (p.Val321Ala)
c.1043T>C (p.Val348Ala)
c.1025T>C (p.Val342Ala)
c.923T>C (p.Val308Ala)
n.1332-156A>G
c.1103T>C (p.Val368Ala)
c.1205T>C (p.Val402Ala)
c.1145T>C (p.Val382Ala)
n.3607-156A>G
n.4043-156A>G
c.1028T>C (p.Val343Ala)
c.1046T>C (p.Val349Ala)
c.803T>C (p.Val268Ala)
c.836T>C (p.Val279Ala)
c.854T>C (p.Val285Ala)
2g.127428420T>GCA348404503PROCc.860T>G (p.Val287Gly)
c.184T>G
c.962T>G (p.Val321Gly)
c.1043T>G (p.Val348Gly)
c.1025T>G (p.Val342Gly)
c.923T>G (p.Val308Gly)
n.1332-156A>C
c.1103T>G (p.Val368Gly)
c.1205T>G (p.Val402Gly)
c.1145T>G (p.Val382Gly)
n.3607-156A>C
n.4043-156A>C
c.1028T>G (p.Val343Gly)
c.1046T>G (p.Val349Gly)
c.803T>G (p.Val268Gly)
c.836T>G (p.Val279Gly)
c.854T>G (p.Val285Gly)
2g.127428421C>ACA55350628PROCc.861C>A (p.Val287=)
c.185C>A
c.963C>A (p.Val321=)
c.1044C>A (p.Val348=)
c.1026C>A (p.Val342=)
c.924C>A (p.Val308=)
n.1332-157G>T
c.1104C>A (p.Val368=)
c.1206C>A (p.Val402=)
c.1146C>A (p.Val382=)
n.3607-157G>T
n.4043-157G>T
c.1029C>A (p.Val343=)
c.1047C>A (p.Val349=)
c.804C>A (p.Val268=)
c.837C>A (p.Val279=)
c.855C>A (p.Val285=)
 dbSNP gnomAD v4
2g.127428421C=CA1286884457PROCc.861C= (p.Val287=)
c.185C=
c.963C= (p.Val321=)
c.1044C= (p.Val348=)
c.1026C= (p.Val342=)
c.924C= (p.Val308=)
n.1332-157G=
c.1104C= (p.Val368=)
c.1206C= (p.Val402=)
c.1146C= (p.Val382=)
n.3607-157G=
n.4043-157G=
c.1029C= (p.Val343=)
c.1047C= (p.Val349=)
c.804C= (p.Val268=)
c.837C= (p.Val279=)
c.855C= (p.Val285=)
2g.127428421C>GCA428618891PROCc.861C>G (p.Val287=)
c.185C>G
c.963C>G (p.Val321=)
c.1044C>G (p.Val348=)
c.1026C>G (p.Val342=)
c.924C>G (p.Val308=)
n.1332-157G>C
c.1104C>G (p.Val368=)
c.1206C>G (p.Val402=)
c.1146C>G (p.Val382=)
n.3607-157G>C
n.4043-157G>C
c.1029C>G (p.Val343=)
c.1047C>G (p.Val349=)
c.804C>G (p.Val268=)
c.837C>G (p.Val279=)
c.855C>G (p.Val285=)
2g.127428421C>TCA428618892PROCc.861C>T (p.Val287=)
c.185C>T
c.963C>T (p.Val321=)
c.1044C>T (p.Val348=)
c.1026C>T (p.Val342=)
c.924C>T (p.Val308=)
n.1332-157G>A
c.1104C>T (p.Val368=)
c.1206C>T (p.Val402=)
c.1146C>T (p.Val382=)
n.3607-157G>A
n.4043-157G>A
c.1029C>T (p.Val343=)
c.1047C>T (p.Val349=)
c.804C>T (p.Val268=)
c.837C>T (p.Val279=)
c.855C>T (p.Val285=)
 dbSNP
2g.127428422C>ACA348404506PROCc.862C>A (p.His288Asn)
c.186C>A
c.964C>A (p.His322Asn)
c.1045C>A (p.His349Asn)
c.1027C>A (p.His343Asn)
c.925C>A (p.His309Asn)
n.1332-158G>T
c.1105C>A (p.His369Asn)
c.1207C>A (p.His403Asn)
c.1147C>A (p.His383Asn)
n.3607-158G>T
n.4043-158G>T
c.1030C>A (p.His344Asn)
c.1048C>A (p.His350Asn)
c.805C>A (p.His269Asn)
c.838C>A (p.His280Asn)
c.856C>A (p.His286Asn)
2g.127428422C=CA1286884458PROCc.862C= (p.His288=)
c.186C=
c.964C= (p.His322=)
c.1045C= (p.His349=)
c.1027C= (p.His343=)
c.925C= (p.His309=)
n.1332-158G=
c.1105C= (p.His369=)
c.1207C= (p.His403=)
c.1147C= (p.His383=)
n.3607-158G=
n.4043-158G=
c.1030C= (p.His344=)
c.1048C= (p.His350=)
c.805C= (p.His269=)
c.838C= (p.His280=)
c.856C= (p.His286=)
2g.127428422C>GCA348404508PROCc.862C>G (p.His288Asp)
c.186C>G
c.964C>G (p.His322Asp)
c.1045C>G (p.His349Asp)
c.1027C>G (p.His343Asp)
c.925C>G (p.His309Asp)
n.1332-158G>C
c.1105C>G (p.His369Asp)
c.1207C>G (p.His403Asp)
c.1147C>G (p.His383Asp)
n.3607-158G>C
n.4043-158G>C
c.1030C>G (p.His344Asp)
c.1048C>G (p.His350Asp)
c.805C>G (p.His269Asp)
c.838C>G (p.His280Asp)
c.856C>G (p.His286Asp)
2g.127428422C>TCA348404509PROCc.862C>T (p.His288Tyr)
c.186C>T
c.964C>T (p.His322Tyr)
c.1045C>T (p.His349Tyr)
c.1027C>T (p.His343Tyr)
c.925C>T (p.His309Tyr)
n.1332-158G>A
c.1105C>T (p.His369Tyr)
c.1207C>T (p.His403Tyr)
c.1147C>T (p.His383Tyr)
n.3607-158G>A
n.4043-158G>A
c.1030C>T (p.His344Tyr)
c.1048C>T (p.His350Tyr)
c.805C>T (p.His269Tyr)
c.838C>T (p.His280Tyr)
c.856C>T (p.His286Tyr)
 ClinVar dbSNP gnomAD v4
2g.127428423A=CA1286884459PROCc.863A= (p.His288=)
c.187A=
c.965A= (p.His322=)
c.1046A= (p.His349=)
c.1028A= (p.His343=)
c.926A= (p.His309=)
n.1332-159T=
c.1106A= (p.His369=)
c.1208A= (p.His403=)
c.1148A= (p.His383=)
n.3607-159T=
n.4043-159T=
c.1031A= (p.His344=)
c.1049A= (p.His350=)
c.806A= (p.His269=)
c.839A= (p.His280=)
c.857A= (p.His286=)
2g.127428423A>CCA348404512PROCc.863A>C (p.His288Pro)
c.187A>C
c.965A>C (p.His322Pro)
c.1046A>C (p.His349Pro)
c.1028A>C (p.His343Pro)
c.926A>C (p.His309Pro)
n.1332-159T>G
c.1106A>C (p.His369Pro)
c.1208A>C (p.His403Pro)
c.1148A>C (p.His383Pro)
n.3607-159T>G
n.4043-159T>G
c.1031A>C (p.His344Pro)
c.1049A>C (p.His350Pro)
c.806A>C (p.His269Pro)
c.839A>C (p.His280Pro)
c.857A>C (p.His286Pro)
 dbSNP
2g.127428423A>GCA348404514PROCc.863A>G (p.His288Arg)
c.187A>G
c.965A>G (p.His322Arg)
c.1046A>G (p.His349Arg)
c.1028A>G (p.His343Arg)
c.926A>G (p.His309Arg)
n.1332-159T>C
c.1106A>G (p.His369Arg)
c.1208A>G (p.His403Arg)
c.1148A>G (p.His383Arg)
n.3607-159T>C
n.4043-159T>C
c.1031A>G (p.His344Arg)
c.1049A>G (p.His350Arg)
c.806A>G (p.His269Arg)
c.839A>G (p.His280Arg)
c.857A>G (p.His286Arg)
2g.127428423A>TCA348404515PROCc.863A>T (p.His288Leu)
c.187A>T
c.965A>T (p.His322Leu)
c.1046A>T (p.His349Leu)
c.1028A>T (p.His343Leu)
c.926A>T (p.His309Leu)
n.1332-159T>A
c.1106A>T (p.His369Leu)
c.1208A>T (p.His403Leu)
c.1148A>T (p.His383Leu)
n.3607-159T>A
n.4043-159T>A
c.1031A>T (p.His344Leu)
c.1049A>T (p.His350Leu)
c.806A>T (p.His269Leu)
c.839A>T (p.His280Leu)
c.857A>T (p.His286Leu)
2g.127428424C>ACA348404518PROCc.864C>A (p.His288Gln)
c.188C>A
c.966C>A (p.His322Gln)
c.1047C>A (p.His349Gln)
c.1029C>A (p.His343Gln)
c.927C>A (p.His309Gln)
n.1332-160G>T
c.1107C>A (p.His369Gln)
c.1209C>A (p.His403Gln)
c.1149C>A (p.His383Gln)
n.3607-160G>T
n.4043-160G>T
c.1032C>A (p.His344Gln)
c.1050C>A (p.His350Gln)
c.807C>A (p.His269Gln)
c.840C>A (p.His280Gln)
c.858C>A (p.His286Gln)
2g.127428424C=CA1286884460PROCc.864C= (p.His288=)
c.188C=
c.966C= (p.His322=)
c.1047C= (p.His349=)
c.1029C= (p.His343=)
c.927C= (p.His309=)
n.1332-160G=
c.1107C= (p.His369=)
c.1209C= (p.His403=)
c.1149C= (p.His383=)
n.3607-160G=
n.4043-160G=
c.1032C= (p.His344=)
c.1050C= (p.His350=)
c.807C= (p.His269=)
c.840C= (p.His280=)
c.858C= (p.His286=)
2g.127428424C>GCA348404520PROCc.864C>G (p.His288Gln)
c.188C>G
c.966C>G (p.His322Gln)
c.1047C>G (p.His349Gln)
c.1029C>G (p.His343Gln)
c.927C>G (p.His309Gln)
n.1332-160G>C
c.1107C>G (p.His369Gln)
c.1209C>G (p.His403Gln)
c.1149C>G (p.His383Gln)
n.3607-160G>C
n.4043-160G>C
c.1032C>G (p.His344Gln)
c.1050C>G (p.His350Gln)
c.807C>G (p.His269Gln)
c.840C>G (p.His280Gln)
c.858C>G (p.His286Gln)
2g.127428424C>TCA1859475PROCc.864C>T (p.His288=)
c.188C>T
c.966C>T (p.His322=)
c.1047C>T (p.His349=)
c.1029C>T (p.His343=)
c.927C>T (p.His309=)
n.1332-160G>A
c.1107C>T (p.His369=)
c.1209C>T (p.His403=)
c.1149C>T (p.His383=)
n.3607-160G>A
n.4043-160G>A
c.1032C>T (p.His344=)
c.1050C>T (p.His350=)
c.807C>T (p.His269=)
c.840C>T (p.His280=)
c.858C>T (p.His286=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428425C>ACA348404523PROCc.865C>A (p.Pro289Thr)
c.189C>A
c.967C>A (p.Pro323Thr)
c.1048C>A (p.Pro350Thr)
c.1030C>A (p.Pro344Thr)
c.928C>A (p.Pro310Thr)
n.1332-161G>T
c.1108C>A (p.Pro370Thr)
c.1210C>A (p.Pro404Thr)
c.1150C>A (p.Pro384Thr)
n.3607-161G>T
n.4043-161G>T
c.1033C>A (p.Pro345Thr)
c.1051C>A (p.Pro351Thr)
c.808C>A (p.Pro270Thr)
c.841C>A (p.Pro281Thr)
c.859C>A (p.Pro287Thr)
2g.127428425C=CA1286884461PROCc.865C= (p.Pro289=)
c.189C=
c.967C= (p.Pro323=)
c.1048C= (p.Pro350=)
c.1030C= (p.Pro344=)
c.928C= (p.Pro310=)
n.1332-161G=
c.1108C= (p.Pro370=)
c.1210C= (p.Pro404=)
c.1150C= (p.Pro384=)
n.3607-161G=
n.4043-161G=
c.1033C= (p.Pro345=)
c.1051C= (p.Pro351=)
c.808C= (p.Pro270=)
c.841C= (p.Pro281=)
c.859C= (p.Pro287=)
2g.127428425C>GCA348404524PROCc.865C>G (p.Pro289Ala)
c.189C>G
c.967C>G (p.Pro323Ala)
c.1048C>G (p.Pro350Ala)
c.1030C>G (p.Pro344Ala)
c.928C>G (p.Pro310Ala)
n.1332-161G>C
c.1108C>G (p.Pro370Ala)
c.1210C>G (p.Pro404Ala)
c.1150C>G (p.Pro384Ala)
n.3607-161G>C
n.4043-161G>C
c.1033C>G (p.Pro345Ala)
c.1051C>G (p.Pro351Ala)
c.808C>G (p.Pro270Ala)
c.841C>G (p.Pro281Ala)
c.859C>G (p.Pro287Ala)
 dbSNP
2g.127428425C>TCA348404526PROCc.865C>T (p.Pro289Ser)
c.189C>T
c.967C>T (p.Pro323Ser)
c.1048C>T (p.Pro350Ser)
c.1030C>T (p.Pro344Ser)
c.928C>T (p.Pro310Ser)
n.1332-161G>A
c.1108C>T (p.Pro370Ser)
c.1210C>T (p.Pro404Ser)
c.1150C>T (p.Pro384Ser)
n.3607-161G>A
n.4043-161G>A
c.1033C>T (p.Pro345Ser)
c.1051C>T (p.Pro351Ser)
c.808C>T (p.Pro270Ser)
c.841C>T (p.Pro281Ser)
c.859C>T (p.Pro287Ser)
2g.127428426C>ACA348404528PROCc.866C>A (p.Pro289His)
c.190C>A
c.968C>A (p.Pro323His)
c.1049C>A (p.Pro350His)
c.1031C>A (p.Pro344His)
c.929C>A (p.Pro310His)
n.1332-162G>T
c.1109C>A (p.Pro370His)
c.1211C>A (p.Pro404His)
c.1151C>A (p.Pro384His)
n.3607-162G>T
n.4043-162G>T
c.1034C>A (p.Pro345His)
c.1052C>A (p.Pro351His)
c.809C>A (p.Pro270His)
c.842C>A (p.Pro281His)
c.860C>A (p.Pro287His)
2g.127428426C=CA1286884462PROCc.866C= (p.Pro289=)
c.190C=
c.968C= (p.Pro323=)
c.1049C= (p.Pro350=)
c.1031C= (p.Pro344=)
c.929C= (p.Pro310=)
n.1332-162G=
c.1109C= (p.Pro370=)
c.1211C= (p.Pro404=)
c.1151C= (p.Pro384=)
n.3607-162G=
n.4043-162G=
c.1034C= (p.Pro345=)
c.1052C= (p.Pro351=)
c.809C= (p.Pro270=)
c.842C= (p.Pro281=)
c.860C= (p.Pro287=)
2g.127428426C>GCA348404530PROCc.866C>G (p.Pro289Arg)
c.190C>G
c.968C>G (p.Pro323Arg)
c.1049C>G (p.Pro350Arg)
c.1031C>G (p.Pro344Arg)
c.929C>G (p.Pro310Arg)
n.1332-162G>C
c.1109C>G (p.Pro370Arg)
c.1211C>G (p.Pro404Arg)
c.1151C>G (p.Pro384Arg)
n.3607-162G>C
n.4043-162G>C
c.1034C>G (p.Pro345Arg)
c.1052C>G (p.Pro351Arg)
c.809C>G (p.Pro270Arg)
c.842C>G (p.Pro281Arg)
c.860C>G (p.Pro287Arg)
 gnomAD v4
2g.127428426C>TCA114408PROCc.866C>T (p.Pro289Leu)
c.190C>T
c.968C>T (p.Pro323Leu)
c.1049C>T (p.Pro350Leu)
c.1031C>T (p.Pro344Leu)
c.929C>T (p.Pro310Leu)
n.1332-162G>A
c.1109C>T (p.Pro370Leu)
c.1211C>T (p.Pro404Leu)
c.1151C>T (p.Pro384Leu)
n.3607-162G>A
n.4043-162G>A
c.1034C>T (p.Pro345Leu)
c.1052C>T (p.Pro351Leu)
c.809C>T (p.Pro270Leu)
c.842C>T (p.Pro281Leu)
c.860C>T (p.Pro287Leu)
 ClinVar dbSNP gnomAD v4
2g.127428427C>ACA428618893PROCc.867C>A (p.Pro289=)
c.191C>A
c.969C>A (p.Pro323=)
c.1050C>A (p.Pro350=)
c.1032C>A (p.Pro344=)
c.930C>A (p.Pro310=)
n.1332-163G>T
c.1110C>A (p.Pro370=)
c.1212C>A (p.Pro404=)
c.1152C>A (p.Pro384=)
n.3607-163G>T
n.4043-163G>T
c.1035C>A (p.Pro345=)
c.1053C>A (p.Pro351=)
c.810C>A (p.Pro270=)
c.843C>A (p.Pro281=)
c.861C>A (p.Pro287=)
2g.127428427C=CA1286884463PROCc.867C= (p.Pro289=)
c.191C=
c.969C= (p.Pro323=)
c.1050C= (p.Pro350=)
c.1032C= (p.Pro344=)
c.930C= (p.Pro310=)
n.1332-163G=
c.1110C= (p.Pro370=)
c.1212C= (p.Pro404=)
c.1152C= (p.Pro384=)
n.3607-163G=
n.4043-163G=
c.1035C= (p.Pro345=)
c.1053C= (p.Pro351=)
c.810C= (p.Pro270=)
c.843C= (p.Pro281=)
c.861C= (p.Pro287=)
2g.127428427C>GCA428618894PROCc.867C>G (p.Pro289=)
c.191C>G
c.969C>G (p.Pro323=)
c.1050C>G (p.Pro350=)
c.1032C>G (p.Pro344=)
c.930C>G (p.Pro310=)
n.1332-163G>C
c.1110C>G (p.Pro370=)
c.1212C>G (p.Pro404=)
c.1152C>G (p.Pro384=)
n.3607-163G>C
n.4043-163G>C
c.1035C>G (p.Pro345=)
c.1053C>G (p.Pro351=)
c.810C>G (p.Pro270=)
c.843C>G (p.Pro281=)
c.861C>G (p.Pro287=)
2g.127428427C>TCA55350662PROCc.867C>T (p.Pro289=)
c.191C>T
c.969C>T (p.Pro323=)
c.1050C>T (p.Pro350=)
c.1032C>T (p.Pro344=)
c.930C>T (p.Pro310=)
n.1332-163G>A
c.1110C>T (p.Pro370=)
c.1212C>T (p.Pro404=)
c.1152C>T (p.Pro384=)
n.3607-163G>A
n.4043-163G>A
c.1035C>T (p.Pro345=)
c.1053C>T (p.Pro351=)
c.810C>T (p.Pro270=)
c.843C>T (p.Pro281=)
c.861C>T (p.Pro287=)
 dbSNP
2g.127428428A=CA1286884464PROCc.868A= (p.Asn290=)
c.192A=
c.970A= (p.Asn324=)
c.1051A= (p.Asn351=)
c.1033A= (p.Asn345=)
c.931A= (p.Asn311=)
n.1332-164T=
c.1111A= (p.Asn371=)
c.1213A= (p.Asn405=)
c.1153A= (p.Asn385=)
n.3607-164T=
n.4043-164T=
c.1036A= (p.Asn346=)
c.1054A= (p.Asn352=)
c.811A= (p.Asn271=)
c.844A= (p.Asn282=)
c.862A= (p.Asn288=)
2g.127428428A>CCA348404536PROCc.868A>C (p.Asn290His)
c.192A>C
c.970A>C (p.Asn324His)
c.1051A>C (p.Asn351His)
c.1033A>C (p.Asn345His)
c.931A>C (p.Asn311His)
n.1332-164T>G
c.1111A>C (p.Asn371His)
c.1213A>C (p.Asn405His)
c.1153A>C (p.Asn385His)
n.3607-164T>G
n.4043-164T>G
c.1036A>C (p.Asn346His)
c.1054A>C (p.Asn352His)
c.811A>C (p.Asn271His)
c.844A>C (p.Asn282His)
c.862A>C (p.Asn288His)
2g.127428428A>GCA348404538PROCc.868A>G (p.Asn290Asp)
c.192A>G
c.970A>G (p.Asn324Asp)
c.1051A>G (p.Asn351Asp)
c.1033A>G (p.Asn345Asp)
c.931A>G (p.Asn311Asp)
n.1332-164T>C
c.1111A>G (p.Asn371Asp)
c.1213A>G (p.Asn405Asp)
c.1153A>G (p.Asn385Asp)
n.3607-164T>C
n.4043-164T>C
c.1036A>G (p.Asn346Asp)
c.1054A>G (p.Asn352Asp)
c.811A>G (p.Asn271Asp)
c.844A>G (p.Asn282Asp)
c.862A>G (p.Asn288Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.127428428A>TCA348404534PROCc.868A>T (p.Asn290Tyr)
c.192A>T
c.970A>T (p.Asn324Tyr)
c.1051A>T (p.Asn351Tyr)
c.1033A>T (p.Asn345Tyr)
c.931A>T (p.Asn311Tyr)
n.1332-164T>A
c.1111A>T (p.Asn371Tyr)
c.1213A>T (p.Asn405Tyr)
c.1153A>T (p.Asn385Tyr)
n.3607-164T>A
n.4043-164T>A
c.1036A>T (p.Asn346Tyr)
c.1054A>T (p.Asn352Tyr)
c.811A>T (p.Asn271Tyr)
c.844A>T (p.Asn282Tyr)
c.862A>T (p.Asn288Tyr)
2g.127428429A=CA1286884465PROCc.869A= (p.Asn290=)
c.193A=
c.971A= (p.Asn324=)
c.1052A= (p.Asn351=)
c.1034A= (p.Asn345=)
c.932A= (p.Asn311=)
n.1332-165T=
c.1112A= (p.Asn371=)
c.1214A= (p.Asn405=)
c.1154A= (p.Asn385=)
n.3607-165T=
n.4043-165T=
c.1037A= (p.Asn346=)
c.1055A= (p.Asn352=)
c.812A= (p.Asn271=)
c.845A= (p.Asn282=)
c.863A= (p.Asn288=)
2g.127428429A>CCA348404542PROCc.869A>C (p.Asn290Thr)
c.193A>C
c.971A>C (p.Asn324Thr)
c.1052A>C (p.Asn351Thr)
c.1034A>C (p.Asn345Thr)
c.932A>C (p.Asn311Thr)
n.1332-165T>G
c.1112A>C (p.Asn371Thr)
c.1214A>C (p.Asn405Thr)
c.1154A>C (p.Asn385Thr)
n.3607-165T>G
n.4043-165T>G
c.1037A>C (p.Asn346Thr)
c.1055A>C (p.Asn352Thr)
c.812A>C (p.Asn271Thr)
c.845A>C (p.Asn282Thr)
c.863A>C (p.Asn288Thr)
2g.127428429A>GCA348404540PROCc.869A>G (p.Asn290Ser)
c.193A>G
c.971A>G (p.Asn324Ser)
c.1052A>G (p.Asn351Ser)
c.1034A>G (p.Asn345Ser)
c.932A>G (p.Asn311Ser)
n.1332-165T>C
c.1112A>G (p.Asn371Ser)
c.1214A>G (p.Asn405Ser)
c.1154A>G (p.Asn385Ser)
n.3607-165T>C
n.4043-165T>C
c.1037A>G (p.Asn346Ser)
c.1055A>G (p.Asn352Ser)
c.812A>G (p.Asn271Ser)
c.845A>G (p.Asn282Ser)
c.863A>G (p.Asn288Ser)
 dbSNP
2g.127428429A>TCA348404544PROCc.869A>T (p.Asn290Ile)
c.193A>T
c.971A>T (p.Asn324Ile)
c.1052A>T (p.Asn351Ile)
c.1034A>T (p.Asn345Ile)
c.932A>T (p.Asn311Ile)
n.1332-165T>A
c.1112A>T (p.Asn371Ile)
c.1214A>T (p.Asn405Ile)
c.1154A>T (p.Asn385Ile)
n.3607-165T>A
n.4043-165T>A
c.1037A>T (p.Asn346Ile)
c.1055A>T (p.Asn352Ile)
c.812A>T (p.Asn271Ile)
c.845A>T (p.Asn282Ile)
c.863A>T (p.Asn288Ile)
2g.127428430C>ACA348404546PROCc.870C>A (p.Asn290Lys)
c.194C>A
c.972C>A (p.Asn324Lys)
c.1053C>A (p.Asn351Lys)
c.1035C>A (p.Asn345Lys)
c.933C>A (p.Asn311Lys)
n.1332-166G>T
c.1113C>A (p.Asn371Lys)
c.1215C>A (p.Asn405Lys)
c.1155C>A (p.Asn385Lys)
n.3607-166G>T
n.4043-166G>T
c.1038C>A (p.Asn346Lys)
c.1056C>A (p.Asn352Lys)
c.813C>A (p.Asn271Lys)
c.846C>A (p.Asn282Lys)
c.864C>A (p.Asn288Lys)
2g.127428430C>GCA348404547PROCc.870C>G (p.Asn290Lys)
c.194C>G
c.972C>G (p.Asn324Lys)
c.1053C>G (p.Asn351Lys)
c.1035C>G (p.Asn345Lys)
c.933C>G (p.Asn311Lys)
n.1332-166G>C
c.1113C>G (p.Asn371Lys)
c.1215C>G (p.Asn405Lys)
c.1155C>G (p.Asn385Lys)
n.3607-166G>C
n.4043-166G>C
c.1038C>G (p.Asn346Lys)
c.1056C>G (p.Asn352Lys)
c.813C>G (p.Asn271Lys)
c.846C>G (p.Asn282Lys)
c.864C>G (p.Asn288Lys)
 gnomAD v4
2g.127428430C>TCA428618895PROCc.870C>T (p.Asn290=)
c.194C>T
c.972C>T (p.Asn324=)
c.1053C>T (p.Asn351=)
c.1035C>T (p.Asn345=)
c.933C>T (p.Asn311=)
n.1332-166G>A
c.1113C>T (p.Asn371=)
c.1215C>T (p.Asn405=)
c.1155C>T (p.Asn385=)
n.3607-166G>A
n.4043-166G>A
c.1038C>T (p.Asn346=)
c.1056C>T (p.Asn352=)
c.813C>T (p.Asn271=)
c.846C>T (p.Asn282=)
c.864C>T (p.Asn288=)
2g.127428431T>ACA348404550PROCc.871T>A (p.Tyr291Asn)
c.195T>A
c.973T>A (p.Tyr325Asn)
c.1054T>A (p.Tyr352Asn)
c.1036T>A (p.Tyr346Asn)
c.934T>A (p.Tyr312Asn)
n.1332-167A>T
c.1114T>A (p.Tyr372Asn)
c.1216T>A (p.Tyr406Asn)
c.1156T>A (p.Tyr386Asn)
n.3607-167A>T
n.4043-167A>T
c.1039T>A (p.Tyr347Asn)
c.1057T>A (p.Tyr353Asn)
c.814T>A (p.Tyr272Asn)
c.847T>A (p.Tyr283Asn)
c.865T>A (p.Tyr289Asn)
2g.127428431T>CCA348404552PROCc.871T>C (p.Tyr291His)
c.195T>C
c.973T>C (p.Tyr325His)
c.1054T>C (p.Tyr352His)
c.1036T>C (p.Tyr346His)
c.934T>C (p.Tyr312His)
n.1332-167A>G
c.1114T>C (p.Tyr372His)
c.1216T>C (p.Tyr406His)
c.1156T>C (p.Tyr386His)
n.3607-167A>G
n.4043-167A>G
c.1039T>C (p.Tyr347His)
c.1057T>C (p.Tyr353His)
c.814T>C (p.Tyr272His)
c.847T>C (p.Tyr283His)
c.865T>C (p.Tyr289His)
2g.127428431T>GCA348404554PROCc.871T>G (p.Tyr291Asp)
c.195T>G
c.973T>G (p.Tyr325Asp)
c.1054T>G (p.Tyr352Asp)
c.1036T>G (p.Tyr346Asp)
c.934T>G (p.Tyr312Asp)
n.1332-167A>C
c.1114T>G (p.Tyr372Asp)
c.1216T>G (p.Tyr406Asp)
c.1156T>G (p.Tyr386Asp)
n.3607-167A>C
n.4043-167A>C
c.1039T>G (p.Tyr347Asp)
c.1057T>G (p.Tyr353Asp)
c.814T>G (p.Tyr272Asp)
c.847T>G (p.Tyr283Asp)
c.865T>G (p.Tyr289Asp)
2g.127428432A>CCA348404560PROCc.872A>C (p.Tyr291Ser)
c.196A>C
c.974A>C (p.Tyr325Ser)
c.1055A>C (p.Tyr352Ser)
c.1037A>C (p.Tyr346Ser)
c.935A>C (p.Tyr312Ser)
n.1332-168T>G
c.1115A>C (p.Tyr372Ser)
c.1217A>C (p.Tyr406Ser)
c.1157A>C (p.Tyr386Ser)
n.3607-168T>G
n.4043-168T>G
c.1040A>C (p.Tyr347Ser)
c.1058A>C (p.Tyr353Ser)
c.815A>C (p.Tyr272Ser)
c.848A>C (p.Tyr283Ser)
c.866A>C (p.Tyr289Ser)
2g.127428432A>GCA348404561PROCc.872A>G (p.Tyr291Cys)
c.196A>G
c.974A>G (p.Tyr325Cys)
c.1055A>G (p.Tyr352Cys)
c.1037A>G (p.Tyr346Cys)
c.935A>G (p.Tyr312Cys)
n.1332-168T>C
c.1115A>G (p.Tyr372Cys)
c.1217A>G (p.Tyr406Cys)
c.1157A>G (p.Tyr386Cys)
n.3607-168T>C
n.4043-168T>C
c.1040A>G (p.Tyr347Cys)
c.1058A>G (p.Tyr353Cys)
c.815A>G (p.Tyr272Cys)
c.848A>G (p.Tyr283Cys)
c.866A>G (p.Tyr289Cys)
2g.127428432A>TCA348404563PROCc.872A>T (p.Tyr291Phe)
c.196A>T
c.974A>T (p.Tyr325Phe)
c.1055A>T (p.Tyr352Phe)
c.1037A>T (p.Tyr346Phe)
c.935A>T (p.Tyr312Phe)
n.1332-168T>A
c.1115A>T (p.Tyr372Phe)
c.1217A>T (p.Tyr406Phe)
c.1157A>T (p.Tyr386Phe)
n.3607-168T>A
n.4043-168T>A
c.1040A>T (p.Tyr347Phe)
c.1058A>T (p.Tyr353Phe)
c.815A>T (p.Tyr272Phe)
c.848A>T (p.Tyr283Phe)
c.866A>T (p.Tyr289Phe)
2g.127428433C>ACA348404565PROCc.873C>A (p.Tyr291Ter)
c.197C>A
c.975C>A (p.Tyr325Ter)
c.1056C>A (p.Tyr352Ter)
c.1038C>A (p.Tyr346Ter)
c.936C>A (p.Tyr312Ter)
n.1332-169G>T
c.1116C>A (p.Tyr372Ter)
c.1218C>A (p.Tyr406Ter)
c.1158C>A (p.Tyr386Ter)
n.3607-169G>T
n.4043-169G>T
c.1041C>A (p.Tyr347Ter)
c.1059C>A (p.Tyr353Ter)
c.816C>A (p.Tyr272Ter)
c.849C>A (p.Tyr283Ter)
c.867C>A (p.Tyr289Ter)
2g.127428433C>GCA348404567PROCc.873C>G (p.Tyr291Ter)
c.197C>G
c.975C>G (p.Tyr325Ter)
c.1056C>G (p.Tyr352Ter)
c.1038C>G (p.Tyr346Ter)
c.936C>G (p.Tyr312Ter)
n.1332-169G>C
c.1116C>G (p.Tyr372Ter)
c.1218C>G (p.Tyr406Ter)
c.1158C>G (p.Tyr386Ter)
n.3607-169G>C
n.4043-169G>C
c.1041C>G (p.Tyr347Ter)
c.1059C>G (p.Tyr353Ter)
c.816C>G (p.Tyr272Ter)
c.849C>G (p.Tyr283Ter)
c.867C>G (p.Tyr289Ter)
2g.127428433C>TCA428618896PROCc.873C>T (p.Tyr291=)
c.197C>T
c.975C>T (p.Tyr325=)
c.1056C>T (p.Tyr352=)
c.1038C>T (p.Tyr346=)
c.936C>T (p.Tyr312=)
n.1332-169G>A
c.1116C>T (p.Tyr372=)
c.1218C>T (p.Tyr406=)
c.1158C>T (p.Tyr386=)
n.3607-169G>A
n.4043-169G>A
c.1041C>T (p.Tyr347=)
c.1059C>T (p.Tyr353=)
c.816C>T (p.Tyr272=)
c.849C>T (p.Tyr283=)
c.867C>T (p.Tyr289=)
 dbSNP
2g.127428434A=CA1286884466PROCc.874A= (p.Ser292=)
c.198A=
c.976A= (p.Ser326=)
c.1057A= (p.Ser353=)
c.1039A= (p.Ser347=)
c.937A= (p.Ser313=)
n.1332-170T=
c.1117A= (p.Ser373=)
c.1219A= (p.Ser407=)
c.1159A= (p.Ser387=)
n.3607-170T=
n.4043-170T=
c.1042A= (p.Ser348=)
c.1060A= (p.Ser354=)
c.817A= (p.Ser273=)
c.850A= (p.Ser284=)
c.868A= (p.Ser290=)
2g.127428434A>CCA348404569PROCc.874A>C (p.Ser292Arg)
c.198A>C
c.976A>C (p.Ser326Arg)
c.1057A>C (p.Ser353Arg)
c.1039A>C (p.Ser347Arg)
c.937A>C (p.Ser313Arg)
n.1332-170T>G
c.1117A>C (p.Ser373Arg)
c.1219A>C (p.Ser407Arg)
c.1159A>C (p.Ser387Arg)
n.3607-170T>G
n.4043-170T>G
c.1042A>C (p.Ser348Arg)
c.1060A>C (p.Ser354Arg)
c.817A>C (p.Ser273Arg)
c.850A>C (p.Ser284Arg)
c.868A>C (p.Ser290Arg)
2g.127428434A>GCA348404571PROCc.874A>G (p.Ser292Gly)
c.198A>G
c.976A>G (p.Ser326Gly)
c.1057A>G (p.Ser353Gly)
c.1039A>G (p.Ser347Gly)
c.937A>G (p.Ser313Gly)
n.1332-170T>C
c.1117A>G (p.Ser373Gly)
c.1219A>G (p.Ser407Gly)
c.1159A>G (p.Ser387Gly)
n.3607-170T>C
n.4043-170T>C
c.1042A>G (p.Ser348Gly)
c.1060A>G (p.Ser354Gly)
c.817A>G (p.Ser273Gly)
c.850A>G (p.Ser284Gly)
c.868A>G (p.Ser290Gly)
 ClinVar dbSNP gnomAD v4
2g.127428434A>TCA348404573PROCc.874A>T (p.Ser292Cys)
c.198A>T
c.976A>T (p.Ser326Cys)
c.1057A>T (p.Ser353Cys)
c.1039A>T (p.Ser347Cys)
c.937A>T (p.Ser313Cys)
n.1332-170T>A
c.1117A>T (p.Ser373Cys)
c.1219A>T (p.Ser407Cys)
c.1159A>T (p.Ser387Cys)
n.3607-170T>A
n.4043-170T>A
c.1042A>T (p.Ser348Cys)
c.1060A>T (p.Ser354Cys)
c.817A>T (p.Ser273Cys)
c.850A>T (p.Ser284Cys)
c.868A>T (p.Ser290Cys)
2g.127428435G>ACA1859476PROCc.875G>A (p.Ser292Asn)
c.199G>A
c.977G>A (p.Ser326Asn)
c.1058G>A (p.Ser353Asn)
c.1040G>A (p.Ser347Asn)
c.938G>A (p.Ser313Asn)
n.1332-171C>T
c.1118G>A (p.Ser373Asn)
c.1220G>A (p.Ser407Asn)
c.1160G>A (p.Ser387Asn)
n.3607-171C>T
n.4043-171C>T
c.1043G>A (p.Ser348Asn)
c.1061G>A (p.Ser354Asn)
c.818G>A (p.Ser273Asn)
c.851G>A (p.Ser284Asn)
c.869G>A (p.Ser290Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428435G>CCA348404576PROCc.875G>C (p.Ser292Thr)
c.199G>C
c.977G>C (p.Ser326Thr)
c.1058G>C (p.Ser353Thr)
c.1040G>C (p.Ser347Thr)
c.938G>C (p.Ser313Thr)
n.1332-171C>G
c.1118G>C (p.Ser373Thr)
c.1220G>C (p.Ser407Thr)
c.1160G>C (p.Ser387Thr)
n.3607-171C>G
n.4043-171C>G
c.1043G>C (p.Ser348Thr)
c.1061G>C (p.Ser354Thr)
c.818G>C (p.Ser273Thr)
c.851G>C (p.Ser284Thr)
c.869G>C (p.Ser290Thr)
 gnomAD v4
2g.127428435G=CA1286884467PROCc.875G= (p.Ser292=)
c.199G=
c.977G= (p.Ser326=)
c.1058G= (p.Ser353=)
c.1040G= (p.Ser347=)
c.938G= (p.Ser313=)
n.1332-171C=
c.1118G= (p.Ser373=)
c.1220G= (p.Ser407=)
c.1160G= (p.Ser387=)
n.3607-171C=
n.4043-171C=
c.1043G= (p.Ser348=)
c.1061G= (p.Ser354=)
c.818G= (p.Ser273=)
c.851G= (p.Ser284=)
c.869G= (p.Ser290=)
2g.127428435G>TCA348404577PROCc.875G>T (p.Ser292Ile)
c.199G>T
c.977G>T (p.Ser326Ile)
c.1058G>T (p.Ser353Ile)
c.1040G>T (p.Ser347Ile)
c.938G>T (p.Ser313Ile)
n.1332-171C>A
c.1118G>T (p.Ser373Ile)
c.1220G>T (p.Ser407Ile)
c.1160G>T (p.Ser387Ile)
n.3607-171C>A
n.4043-171C>A
c.1043G>T (p.Ser348Ile)
c.1061G>T (p.Ser354Ile)
c.818G>T (p.Ser273Ile)
c.851G>T (p.Ser284Ile)
c.869G>T (p.Ser290Ile)
2g.127428436C>ACA348404580PROCc.876C>A (p.Ser292Arg)
c.200C>A
c.978C>A (p.Ser326Arg)
c.1059C>A (p.Ser353Arg)
c.1041C>A (p.Ser347Arg)
c.939C>A (p.Ser313Arg)
n.1332-172G>T
c.1119C>A (p.Ser373Arg)
c.1221C>A (p.Ser407Arg)
c.1161C>A (p.Ser387Arg)
n.3607-172G>T
n.4043-172G>T
c.1044C>A (p.Ser348Arg)
c.1062C>A (p.Ser354Arg)
c.819C>A (p.Ser273Arg)
c.852C>A (p.Ser284Arg)
c.870C>A (p.Ser290Arg)
2g.127428436C=CA1286884468PROCc.876C= (p.Ser292=)
c.200C=
c.978C= (p.Ser326=)
c.1059C= (p.Ser353=)
c.1041C= (p.Ser347=)
c.939C= (p.Ser313=)
n.1332-172G=
c.1119C= (p.Ser373=)
c.1221C= (p.Ser407=)
c.1161C= (p.Ser387=)
n.3607-172G=
n.4043-172G=
c.1044C= (p.Ser348=)
c.1062C= (p.Ser354=)
c.819C= (p.Ser273=)
c.852C= (p.Ser284=)
c.870C= (p.Ser290=)
2g.127428436C>GCA348404582PROCc.876C>G (p.Ser292Arg)
c.200C>G
c.978C>G (p.Ser326Arg)
c.1059C>G (p.Ser353Arg)
c.1041C>G (p.Ser347Arg)
c.939C>G (p.Ser313Arg)
n.1332-172G>C
c.1119C>G (p.Ser373Arg)
c.1221C>G (p.Ser407Arg)
c.1161C>G (p.Ser387Arg)
n.3607-172G>C
n.4043-172G>C
c.1044C>G (p.Ser348Arg)
c.1062C>G (p.Ser354Arg)
c.819C>G (p.Ser273Arg)
c.852C>G (p.Ser284Arg)
c.870C>G (p.Ser290Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127428436C>TCA428618897PROCc.876C>T (p.Ser292=)
c.200C>T
c.978C>T (p.Ser326=)
c.1059C>T (p.Ser353=)
c.1041C>T (p.Ser347=)
c.939C>T (p.Ser313=)
n.1332-172G>A
c.1119C>T (p.Ser373=)
c.1221C>T (p.Ser407=)
c.1161C>T (p.Ser387=)
n.3607-172G>A
n.4043-172G>A
c.1044C>T (p.Ser348=)
c.1062C>T (p.Ser354=)
c.819C>T (p.Ser273=)
c.852C>T (p.Ser284=)
c.870C>T (p.Ser290=)
 dbSNP gnomAD v4
2g.127428437A=CA1286884469PROCc.877A= (p.Lys293=)
c.201A=
c.979A= (p.Lys327=)
c.1060A= (p.Lys354=)
c.1042A= (p.Lys348=)
c.940A= (p.Lys314=)
n.1332-173T=
c.1120A= (p.Lys374=)
c.1222A= (p.Lys408=)
c.1162A= (p.Lys388=)
n.3607-173T=
n.4043-173T=
c.1045A= (p.Lys349=)
c.1063A= (p.Lys355=)
c.820A= (p.Lys274=)
c.853A= (p.Lys285=)
c.871A= (p.Lys291=)
2g.127428437A>CCA348404584PROCc.877A>C (p.Lys293Gln)
c.201A>C
c.979A>C (p.Lys327Gln)
c.1060A>C (p.Lys354Gln)
c.1042A>C (p.Lys348Gln)
c.940A>C (p.Lys314Gln)
n.1332-173T>G
c.1120A>C (p.Lys374Gln)
c.1222A>C (p.Lys408Gln)
c.1162A>C (p.Lys388Gln)
n.3607-173T>G
n.4043-173T>G
c.1045A>C (p.Lys349Gln)
c.1063A>C (p.Lys355Gln)
c.820A>C (p.Lys274Gln)
c.853A>C (p.Lys285Gln)
c.871A>C (p.Lys291Gln)
 gnomAD v4
2g.127428437A>GCA348404585PROCc.877A>G (p.Lys293Glu)
c.201A>G
c.979A>G (p.Lys327Glu)
c.1060A>G (p.Lys354Glu)
c.1042A>G (p.Lys348Glu)
c.940A>G (p.Lys314Glu)
n.1332-173T>C
c.1120A>G (p.Lys374Glu)
c.1222A>G (p.Lys408Glu)
c.1162A>G (p.Lys388Glu)
n.3607-173T>C
n.4043-173T>C
c.1045A>G (p.Lys349Glu)
c.1063A>G (p.Lys355Glu)
c.820A>G (p.Lys274Glu)
c.853A>G (p.Lys285Glu)
c.871A>G (p.Lys291Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.127428437A>TCA348404587PROCc.877A>T (p.Lys293Ter)
c.201A>T
c.979A>T (p.Lys327Ter)
c.1060A>T (p.Lys354Ter)
c.1042A>T (p.Lys348Ter)
c.940A>T (p.Lys314Ter)
n.1332-173T>A
c.1120A>T (p.Lys374Ter)
c.1222A>T (p.Lys408Ter)
c.1162A>T (p.Lys388Ter)
n.3607-173T>A
n.4043-173T>A
c.1045A>T (p.Lys349Ter)
c.1063A>T (p.Lys355Ter)
c.820A>T (p.Lys274Ter)
c.853A>T (p.Lys285Ter)
c.871A>T (p.Lys291Ter)
2g.127428438A=CA1286884470PROCc.878A= (p.Lys293=)
c.202A=
c.980A= (p.Lys327=)
c.1061A= (p.Lys354=)
c.1043A= (p.Lys348=)
c.941A= (p.Lys314=)
n.1332-174T=
c.1121A= (p.Lys374=)
c.1223A= (p.Lys408=)
c.1163A= (p.Lys388=)
n.3607-174T=
n.4043-174T=
c.1046A= (p.Lys349=)
c.1064A= (p.Lys355=)
c.821A= (p.Lys274=)
c.854A= (p.Lys285=)
c.872A= (p.Lys291=)
2g.127428438A>CCA348404590PROCc.878A>C (p.Lys293Thr)
c.202A>C
c.980A>C (p.Lys327Thr)
c.1061A>C (p.Lys354Thr)
c.1043A>C (p.Lys348Thr)
c.941A>C (p.Lys314Thr)
n.1332-174T>G
c.1121A>C (p.Lys374Thr)
c.1223A>C (p.Lys408Thr)
c.1163A>C (p.Lys388Thr)
n.3607-174T>G
n.4043-174T>G
c.1046A>C (p.Lys349Thr)
c.1064A>C (p.Lys355Thr)
c.821A>C (p.Lys274Thr)
c.854A>C (p.Lys285Thr)
c.872A>C (p.Lys291Thr)
2g.127428438A>GCA1859477PROCc.878A>G (p.Lys293Arg)
c.202A>G
c.980A>G (p.Lys327Arg)
c.1061A>G (p.Lys354Arg)
c.1043A>G (p.Lys348Arg)
c.941A>G (p.Lys314Arg)
n.1332-174T>C
c.1121A>G (p.Lys374Arg)
c.1223A>G (p.Lys408Arg)
c.1163A>G (p.Lys388Arg)
n.3607-174T>C
n.4043-174T>C
c.1046A>G (p.Lys349Arg)
c.1064A>G (p.Lys355Arg)
c.821A>G (p.Lys274Arg)
c.854A>G (p.Lys285Arg)
c.872A>G (p.Lys291Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428438A>TCA348404593PROCc.878A>T (p.Lys293Met)
c.202A>T
c.980A>T (p.Lys327Met)
c.1061A>T (p.Lys354Met)
c.1043A>T (p.Lys348Met)
c.941A>T (p.Lys314Met)
n.1332-174T>A
c.1121A>T (p.Lys374Met)
c.1223A>T (p.Lys408Met)
c.1163A>T (p.Lys388Met)
n.3607-174T>A
n.4043-174T>A
c.1046A>T (p.Lys349Met)
c.1064A>T (p.Lys355Met)
c.821A>T (p.Lys274Met)
c.854A>T (p.Lys285Met)
c.872A>T (p.Lys291Met)
2g.127428439G>ACA428618898PROCc.879G>A (p.Lys293=)
c.203G>A
c.981G>A (p.Lys327=)
c.1062G>A (p.Lys354=)
c.1044G>A (p.Lys348=)
c.942G>A (p.Lys314=)
n.1332-175C>T
c.1122G>A (p.Lys374=)
c.1224G>A (p.Lys408=)
c.1164G>A (p.Lys388=)
n.3607-175C>T
n.4043-175C>T
c.1047G>A (p.Lys349=)
c.1065G>A (p.Lys355=)
c.822G>A (p.Lys274=)
c.855G>A (p.Lys285=)
c.873G>A (p.Lys291=)
2g.127428439G>CCA348404596PROCc.879G>C (p.Lys293Asn)
c.203G>C
c.981G>C (p.Lys327Asn)
c.1062G>C (p.Lys354Asn)
c.1044G>C (p.Lys348Asn)
c.942G>C (p.Lys314Asn)
n.1332-175C>G
c.1122G>C (p.Lys374Asn)
c.1224G>C (p.Lys408Asn)
c.1164G>C (p.Lys388Asn)
n.3607-175C>G
n.4043-175C>G
c.1047G>C (p.Lys349Asn)
c.1065G>C (p.Lys355Asn)
c.822G>C (p.Lys274Asn)
c.855G>C (p.Lys285Asn)
c.873G>C (p.Lys291Asn)
2g.127428439G>TCA348404597PROCc.879G>T (p.Lys293Asn)
c.203G>T
c.981G>T (p.Lys327Asn)
c.1062G>T (p.Lys354Asn)
c.1044G>T (p.Lys348Asn)
c.942G>T (p.Lys314Asn)
n.1332-175C>A
c.1122G>T (p.Lys374Asn)
c.1224G>T (p.Lys408Asn)
c.1164G>T (p.Lys388Asn)
n.3607-175C>A
n.4043-175C>A
c.1047G>T (p.Lys349Asn)
c.1065G>T (p.Lys355Asn)
c.822G>T (p.Lys274Asn)
c.855G>T (p.Lys285Asn)
c.873G>T (p.Lys291Asn)
2g.127428440A=CA1286884471PROCc.880A= (p.Ser294=)
c.204A=
c.982A= (p.Ser328=)
c.1063A= (p.Ser355=)
c.1045A= (p.Ser349=)
c.943A= (p.Ser315=)
n.1332-176T=
c.1123A= (p.Ser375=)
c.1225A= (p.Ser409=)
c.1165A= (p.Ser389=)
n.3607-176T=
n.4043-176T=
c.1048A= (p.Ser350=)
c.1066A= (p.Ser356=)
c.823A= (p.Ser275=)
c.856A= (p.Ser286=)
c.874A= (p.Ser292=)
2g.127428440A>CCA348404599PROCc.880A>C (p.Ser294Arg)
c.204A>C
c.982A>C (p.Ser328Arg)
c.1063A>C (p.Ser355Arg)
c.1045A>C (p.Ser349Arg)
c.943A>C (p.Ser315Arg)
n.1332-176T>G
c.1123A>C (p.Ser375Arg)
c.1225A>C (p.Ser409Arg)
c.1165A>C (p.Ser389Arg)
n.3607-176T>G
n.4043-176T>G
c.1048A>C (p.Ser350Arg)
c.1066A>C (p.Ser356Arg)
c.823A>C (p.Ser275Arg)
c.856A>C (p.Ser286Arg)
c.874A>C (p.Ser292Arg)
2g.127428440A>GCA348404601PROCc.880A>G (p.Ser294Gly)
c.204A>G
c.982A>G (p.Ser328Gly)
c.1063A>G (p.Ser355Gly)
c.1045A>G (p.Ser349Gly)
c.943A>G (p.Ser315Gly)
n.1332-176T>C
c.1123A>G (p.Ser375Gly)
c.1225A>G (p.Ser409Gly)
c.1165A>G (p.Ser389Gly)
n.3607-176T>C
n.4043-176T>C
c.1048A>G (p.Ser350Gly)
c.1066A>G (p.Ser356Gly)
c.823A>G (p.Ser275Gly)
c.856A>G (p.Ser286Gly)
c.874A>G (p.Ser292Gly)
2g.127428440A>TCA348404603PROCc.880A>T (p.Ser294Cys)
c.204A>T
c.982A>T (p.Ser328Cys)
c.1063A>T (p.Ser355Cys)
c.1045A>T (p.Ser349Cys)
c.943A>T (p.Ser315Cys)
n.1332-176T>A
c.1123A>T (p.Ser375Cys)
c.1225A>T (p.Ser409Cys)
c.1165A>T (p.Ser389Cys)
n.3607-176T>A
n.4043-176T>A
c.1048A>T (p.Ser350Cys)
c.1066A>T (p.Ser356Cys)
c.823A>T (p.Ser275Cys)
c.856A>T (p.Ser286Cys)
c.874A>T (p.Ser292Cys)
 gnomAD v4
2g.127428441G>ACA1859478PROCc.881G>A (p.Ser294Asn)
c.205G>A
c.983G>A (p.Ser328Asn)
c.1064G>A (p.Ser355Asn)
c.1046G>A (p.Ser349Asn)
c.944G>A (p.Ser315Asn)
n.1332-177C>T
c.1124G>A (p.Ser375Asn)
c.1226G>A (p.Ser409Asn)
c.1166G>A (p.Ser389Asn)
n.3607-177C>T
n.4043-177C>T
c.1049G>A (p.Ser350Asn)
c.1067G>A (p.Ser356Asn)
c.824G>A (p.Ser275Asn)
c.857G>A (p.Ser286Asn)
c.875G>A (p.Ser292Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428441G>CCA348404606PROCc.881G>C (p.Ser294Thr)
c.205G>C
c.983G>C (p.Ser328Thr)
c.1064G>C (p.Ser355Thr)
c.1046G>C (p.Ser349Thr)
c.944G>C (p.Ser315Thr)
n.1332-177C>G
c.1124G>C (p.Ser375Thr)
c.1226G>C (p.Ser409Thr)
c.1166G>C (p.Ser389Thr)
n.3607-177C>G
n.4043-177C>G
c.1049G>C (p.Ser350Thr)
c.1067G>C (p.Ser356Thr)
c.824G>C (p.Ser275Thr)
c.857G>C (p.Ser286Thr)
c.875G>C (p.Ser292Thr)
 dbSNP gnomAD v4
2g.127428441G=CA1286884473PROCc.881G= (p.Ser294=)
c.205G=
c.983G= (p.Ser328=)
c.1064G= (p.Ser355=)
c.1046G= (p.Ser349=)
c.944G= (p.Ser315=)
n.1332-177C=
c.1124G= (p.Ser375=)
c.1226G= (p.Ser409=)
c.1166G= (p.Ser389=)
n.3607-177C=
n.4043-177C=
c.1049G= (p.Ser350=)
c.1067G= (p.Ser356=)
c.824G= (p.Ser275=)
c.857G= (p.Ser286=)
c.875G= (p.Ser292=)
2g.127428441G>TCA348404604PROCc.881G>T (p.Ser294Ile)
c.205G>T
c.983G>T (p.Ser328Ile)
c.1064G>T (p.Ser355Ile)
c.1046G>T (p.Ser349Ile)
c.944G>T (p.Ser315Ile)
n.1332-177C>A
c.1124G>T (p.Ser375Ile)
c.1226G>T (p.Ser409Ile)
c.1166G>T (p.Ser389Ile)
n.3607-177C>A
n.4043-177C>A
c.1049G>T (p.Ser350Ile)
c.1067G>T (p.Ser356Ile)
c.824G>T (p.Ser275Ile)
c.857G>T (p.Ser286Ile)
c.875G>T (p.Ser292Ile)
2g.127428441_127428445dupCA1286884472PROCc.881_885dup (p.Thr296AlafsTer22)
c.205_209dup
c.983_987dup (p.Thr330AlafsTer22)
c.1064_1068dup (p.Thr357AlafsTer22)
c.1046_1050dup (p.Thr351AlafsTer22)
c.944_948dup (p.Thr317AlafsTer22)
n.1332-181_1332-177dup
c.1124_1128dup (p.Thr377AlafsTer22)
c.1226_1230dup (p.Thr411AlafsTer22)
c.1166_1170dup (p.Thr391AlafsTer22)
n.3607-181_3607-177dup
n.4043-181_4043-177dup
c.1049_1053dup (p.Thr352AlafsTer22)
c.1067_1071dup (p.Thr358AlafsTer22)
c.824_828dup (p.Thr277AlafsTer22)
c.857_861dup (p.Thr288AlafsTer22)
c.875_879dup (p.Thr294AlafsTer22)
 dbSNP
2g.127428442C>ACA348404608PROCc.882C>A (p.Ser294Arg)
c.206C>A
c.984C>A (p.Ser328Arg)
c.1065C>A (p.Ser355Arg)
c.1047C>A (p.Ser349Arg)
c.945C>A (p.Ser315Arg)
n.1332-178G>T
c.1125C>A (p.Ser375Arg)
c.1227C>A (p.Ser409Arg)
c.1167C>A (p.Ser389Arg)
n.3607-178G>T
n.4043-178G>T
c.1050C>A (p.Ser350Arg)
c.1068C>A (p.Ser356Arg)
c.825C>A (p.Ser275Arg)
c.858C>A (p.Ser286Arg)
c.876C>A (p.Ser292Arg)
2g.127428442C>GCA348404609PROCc.882C>G (p.Ser294Arg)
c.206C>G
c.984C>G (p.Ser328Arg)
c.1065C>G (p.Ser355Arg)
c.1047C>G (p.Ser349Arg)
c.945C>G (p.Ser315Arg)
n.1332-178G>C
c.1125C>G (p.Ser375Arg)
c.1227C>G (p.Ser409Arg)
c.1167C>G (p.Ser389Arg)
n.3607-178G>C
n.4043-178G>C
c.1050C>G (p.Ser350Arg)
c.1068C>G (p.Ser356Arg)
c.825C>G (p.Ser275Arg)
c.858C>G (p.Ser286Arg)
c.876C>G (p.Ser292Arg)
2g.127428442C>TCA428618899PROCc.882C>T (p.Ser294=)
c.206C>T
c.984C>T (p.Ser328=)
c.1065C>T (p.Ser355=)
c.1047C>T (p.Ser349=)
c.945C>T (p.Ser315=)
n.1332-178G>A
c.1125C>T (p.Ser375=)
c.1227C>T (p.Ser409=)
c.1167C>T (p.Ser389=)
n.3607-178G>A
n.4043-178G>A
c.1050C>T (p.Ser350=)
c.1068C>T (p.Ser356=)
c.825C>T (p.Ser275=)
c.858C>T (p.Ser286=)
c.876C>T (p.Ser292=)
2g.127428443A=CA1286884474PROCc.883A= (p.Thr295=)
c.207A=
c.985A= (p.Thr329=)
c.1066A= (p.Thr356=)
c.1048A= (p.Thr350=)
c.946A= (p.Thr316=)
n.1332-179T=
c.1126A= (p.Thr376=)
c.1228A= (p.Thr410=)
c.1168A= (p.Thr390=)
n.3607-179T=
n.4043-179T=
c.1051A= (p.Thr351=)
c.1069A= (p.Thr357=)
c.826A= (p.Thr276=)
c.859A= (p.Thr287=)
c.877A= (p.Thr293=)
2g.127428443A>CCA348404612PROCc.883A>C (p.Thr295Pro)
c.207A>C
c.985A>C (p.Thr329Pro)
c.1066A>C (p.Thr356Pro)
c.1048A>C (p.Thr350Pro)
c.946A>C (p.Thr316Pro)
n.1332-179T>G
c.1126A>C (p.Thr376Pro)
c.1228A>C (p.Thr410Pro)
c.1168A>C (p.Thr390Pro)
n.3607-179T>G
n.4043-179T>G
c.1051A>C (p.Thr351Pro)
c.1069A>C (p.Thr357Pro)
c.826A>C (p.Thr276Pro)
c.859A>C (p.Thr287Pro)
c.877A>C (p.Thr293Pro)
 dbSNP
2g.127428443A>GCA348404614PROCc.883A>G (p.Thr295Ala)
c.207A>G
c.985A>G (p.Thr329Ala)
c.1066A>G (p.Thr356Ala)
c.1048A>G (p.Thr350Ala)
c.946A>G (p.Thr316Ala)
n.1332-179T>C
c.1126A>G (p.Thr376Ala)
c.1228A>G (p.Thr410Ala)
c.1168A>G (p.Thr390Ala)
n.3607-179T>C
n.4043-179T>C
c.1051A>G (p.Thr351Ala)
c.1069A>G (p.Thr357Ala)
c.826A>G (p.Thr276Ala)
c.859A>G (p.Thr287Ala)
c.877A>G (p.Thr293Ala)
2g.127428443A>TCA348404615PROCc.883A>T (p.Thr295Ser)
c.207A>T
c.985A>T (p.Thr329Ser)
c.1066A>T (p.Thr356Ser)
c.1048A>T (p.Thr350Ser)
c.946A>T (p.Thr316Ser)
n.1332-179T>A
c.1126A>T (p.Thr376Ser)
c.1228A>T (p.Thr410Ser)
c.1168A>T (p.Thr390Ser)
n.3607-179T>A
n.4043-179T>A
c.1051A>T (p.Thr351Ser)
c.1069A>T (p.Thr357Ser)
c.826A>T (p.Thr276Ser)
c.859A>T (p.Thr287Ser)
c.877A>T (p.Thr293Ser)
2g.127428444C>ACA348404617PROCc.884C>A (p.Thr295Asn)
c.208C>A
c.986C>A (p.Thr329Asn)
c.1067C>A (p.Thr356Asn)
c.1049C>A (p.Thr350Asn)
c.947C>A (p.Thr316Asn)
n.1332-180G>T
c.1127C>A (p.Thr376Asn)
c.1229C>A (p.Thr410Asn)
c.1169C>A (p.Thr390Asn)
n.3607-180G>T
n.4043-180G>T
c.1052C>A (p.Thr351Asn)
c.1070C>A (p.Thr357Asn)
c.827C>A (p.Thr276Asn)
c.860C>A (p.Thr287Asn)
c.878C>A (p.Thr293Asn)
2g.127428444C=CA1286884475PROCc.884C= (p.Thr295=)
c.208C=
c.986C= (p.Thr329=)
c.1067C= (p.Thr356=)
c.1049C= (p.Thr350=)
c.947C= (p.Thr316=)
n.1332-180G=
c.1127C= (p.Thr376=)
c.1229C= (p.Thr410=)
c.1169C= (p.Thr390=)
n.3607-180G=
n.4043-180G=
c.1052C= (p.Thr351=)
c.1070C= (p.Thr357=)
c.827C= (p.Thr276=)
c.860C= (p.Thr287=)
c.878C= (p.Thr293=)
2g.127428444C>GCA348404619PROCc.884C>G (p.Thr295Ser)
c.208C>G
c.986C>G (p.Thr329Ser)
c.1067C>G (p.Thr356Ser)
c.1049C>G (p.Thr350Ser)
c.947C>G (p.Thr316Ser)
n.1332-180G>C
c.1127C>G (p.Thr376Ser)
c.1229C>G (p.Thr410Ser)
c.1169C>G (p.Thr390Ser)
n.3607-180G>C
n.4043-180G>C
c.1052C>G (p.Thr351Ser)
c.1070C>G (p.Thr357Ser)
c.827C>G (p.Thr276Ser)
c.860C>G (p.Thr287Ser)
c.878C>G (p.Thr293Ser)
2g.127428444C>TCA1859479PROCc.884C>T (p.Thr295Ile)
c.208C>T
c.986C>T (p.Thr329Ile)
c.1067C>T (p.Thr356Ile)
c.1049C>T (p.Thr350Ile)
c.947C>T (p.Thr316Ile)
n.1332-180G>A
c.1127C>T (p.Thr376Ile)
c.1229C>T (p.Thr410Ile)
c.1169C>T (p.Thr390Ile)
n.3607-180G>A
n.4043-180G>A
c.1052C>T (p.Thr351Ile)
c.1070C>T (p.Thr357Ile)
c.827C>T (p.Thr276Ile)
c.860C>T (p.Thr287Ile)
c.878C>T (p.Thr293Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428445C>ACA428618900PROCc.885C>A (p.Thr295=)
c.209C>A
c.987C>A (p.Thr329=)
c.1068C>A (p.Thr356=)
c.1050C>A (p.Thr350=)
c.948C>A (p.Thr316=)
n.1332-181G>T
c.1128C>A (p.Thr376=)
c.1230C>A (p.Thr410=)
c.1170C>A (p.Thr390=)
n.3607-181G>T
n.4043-181G>T
c.1053C>A (p.Thr351=)
c.1071C>A (p.Thr357=)
c.828C>A (p.Thr276=)
c.861C>A (p.Thr287=)
c.879C>A (p.Thr293=)
 dbSNP
2g.127428445C=CA1286884476PROCc.885C= (p.Thr295=)
c.209C=
c.987C= (p.Thr329=)
c.1068C= (p.Thr356=)
c.1050C= (p.Thr350=)
c.948C= (p.Thr316=)
n.1332-181G=
c.1128C= (p.Thr376=)
c.1230C= (p.Thr410=)
c.1170C= (p.Thr390=)
n.3607-181G=
n.4043-181G=
c.1053C= (p.Thr351=)
c.1071C= (p.Thr357=)
c.828C= (p.Thr276=)
c.861C= (p.Thr287=)
c.879C= (p.Thr293=)
2g.127428445C>GCA428618901PROCc.885C>G (p.Thr295=)
c.209C>G
c.987C>G (p.Thr329=)
c.1068C>G (p.Thr356=)
c.1050C>G (p.Thr350=)
c.948C>G (p.Thr316=)
n.1332-181G>C
c.1128C>G (p.Thr376=)
c.1230C>G (p.Thr410=)
c.1170C>G (p.Thr390=)
n.3607-181G>C
n.4043-181G>C
c.1053C>G (p.Thr351=)
c.1071C>G (p.Thr357=)
c.828C>G (p.Thr276=)
c.861C>G (p.Thr287=)
c.879C>G (p.Thr293=)
2g.127428445C>TCA428618902PROCc.885C>T (p.Thr295=)
c.209C>T
c.987C>T (p.Thr329=)
c.1068C>T (p.Thr356=)
c.1050C>T (p.Thr350=)
c.948C>T (p.Thr316=)
n.1332-181G>A
c.1128C>T (p.Thr376=)
c.1230C>T (p.Thr410=)
c.1170C>T (p.Thr390=)
n.3607-181G>A
n.4043-181G>A
c.1053C>T (p.Thr351=)
c.1071C>T (p.Thr357=)
c.828C>T (p.Thr276=)
c.861C>T (p.Thr287=)
c.879C>T (p.Thr293=)
2g.127428446A=CA1286884477PROCc.886A= (p.Thr296=)
c.210A=
c.988A= (p.Thr330=)
c.1069A= (p.Thr357=)
c.1051A= (p.Thr351=)
c.949A= (p.Thr317=)
n.1332-182T=
c.1129A= (p.Thr377=)
c.1231A= (p.Thr411=)
c.1171A= (p.Thr391=)
n.3607-182T=
n.4043-182T=
c.1054A= (p.Thr352=)
c.1072A= (p.Thr358=)
c.829A= (p.Thr277=)
c.862A= (p.Thr288=)
c.880A= (p.Thr294=)
2g.127428446A>CCA348404621PROCc.886A>C (p.Thr296Pro)
c.210A>C
c.988A>C (p.Thr330Pro)
c.1069A>C (p.Thr357Pro)
c.1051A>C (p.Thr351Pro)
c.949A>C (p.Thr317Pro)
n.1332-182T>G
c.1129A>C (p.Thr377Pro)
c.1231A>C (p.Thr411Pro)
c.1171A>C (p.Thr391Pro)
n.3607-182T>G
n.4043-182T>G
c.1054A>C (p.Thr352Pro)
c.1072A>C (p.Thr358Pro)
c.829A>C (p.Thr277Pro)
c.862A>C (p.Thr288Pro)
c.880A>C (p.Thr294Pro)
 dbSNP
2g.127428446A>GCA348404622PROCc.886A>G (p.Thr296Ala)
c.210A>G
c.988A>G (p.Thr330Ala)
c.1069A>G (p.Thr357Ala)
c.1051A>G (p.Thr351Ala)
c.949A>G (p.Thr317Ala)
n.1332-182T>C
c.1129A>G (p.Thr377Ala)
c.1231A>G (p.Thr411Ala)
c.1171A>G (p.Thr391Ala)
n.3607-182T>C
n.4043-182T>C
c.1054A>G (p.Thr352Ala)
c.1072A>G (p.Thr358Ala)
c.829A>G (p.Thr277Ala)
c.862A>G (p.Thr288Ala)
c.880A>G (p.Thr294Ala)
2g.127428446A>TCA348404623PROCc.886A>T (p.Thr296Ser)
c.210A>T
c.988A>T (p.Thr330Ser)
c.1069A>T (p.Thr357Ser)
c.1051A>T (p.Thr351Ser)
c.949A>T (p.Thr317Ser)
n.1332-182T>A
c.1129A>T (p.Thr377Ser)
c.1231A>T (p.Thr411Ser)
c.1171A>T (p.Thr391Ser)
n.3607-182T>A
n.4043-182T>A
c.1054A>T (p.Thr352Ser)
c.1072A>T (p.Thr358Ser)
c.829A>T (p.Thr277Ser)
c.862A>T (p.Thr288Ser)
c.880A>T (p.Thr294Ser)
2g.127428447C>ACA348404624PROCc.887C>A (p.Thr296Asn)
c.211C>A
c.989C>A (p.Thr330Asn)
c.1070C>A (p.Thr357Asn)
c.1052C>A (p.Thr351Asn)
c.950C>A (p.Thr317Asn)
n.1332-183G>T
c.1130C>A (p.Thr377Asn)
c.1232C>A (p.Thr411Asn)
c.1172C>A (p.Thr391Asn)
n.3607-183G>T
n.4043-183G>T
c.1055C>A (p.Thr352Asn)
c.1073C>A (p.Thr358Asn)
c.830C>A (p.Thr277Asn)
c.863C>A (p.Thr288Asn)
c.881C>A (p.Thr294Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.127428447C=CA1286884478PROCc.887C= (p.Thr296=)
c.211C=
c.989C= (p.Thr330=)
c.1070C= (p.Thr357=)
c.1052C= (p.Thr351=)
c.950C= (p.Thr317=)
n.1332-183G=
c.1130C= (p.Thr377=)
c.1232C= (p.Thr411=)
c.1172C= (p.Thr391=)
n.3607-183G=
n.4043-183G=
c.1055C= (p.Thr352=)
c.1073C= (p.Thr358=)
c.830C= (p.Thr277=)
c.863C= (p.Thr288=)
c.881C= (p.Thr294=)
2g.127428447C>GCA348404626PROCc.887C>G (p.Thr296Ser)
c.211C>G
c.989C>G (p.Thr330Ser)
c.1070C>G (p.Thr357Ser)
c.1052C>G (p.Thr351Ser)
c.950C>G (p.Thr317Ser)
n.1332-183G>C
c.1130C>G (p.Thr377Ser)
c.1232C>G (p.Thr411Ser)
c.1172C>G (p.Thr391Ser)
n.3607-183G>C
n.4043-183G>C
c.1055C>G (p.Thr352Ser)
c.1073C>G (p.Thr358Ser)
c.830C>G (p.Thr277Ser)
c.863C>G (p.Thr288Ser)
c.881C>G (p.Thr294Ser)
2g.127428447C>TCA348404631PROCc.887C>T (p.Thr296Ile)
c.211C>T
c.989C>T (p.Thr330Ile)
c.1070C>T (p.Thr357Ile)
c.1052C>T (p.Thr351Ile)
c.950C>T (p.Thr317Ile)
n.1332-183G>A
c.1130C>T (p.Thr377Ile)
c.1232C>T (p.Thr411Ile)
c.1172C>T (p.Thr391Ile)
n.3607-183G>A
n.4043-183G>A
c.1055C>T (p.Thr352Ile)
c.1073C>T (p.Thr358Ile)
c.830C>T (p.Thr277Ile)
c.863C>T (p.Thr288Ile)
c.881C>T (p.Thr294Ile)
2g.127428448C>ACA428618903PROCc.888C>A (p.Thr296=)
c.212C>A
c.990C>A (p.Thr330=)
c.1071C>A (p.Thr357=)
c.1053C>A (p.Thr351=)
c.951C>A (p.Thr317=)
n.1332-184G>T
c.1131C>A (p.Thr377=)
c.1233C>A (p.Thr411=)
c.1173C>A (p.Thr391=)
n.3607-184G>T
n.4043-184G>T
c.1056C>A (p.Thr352=)
c.1074C>A (p.Thr358=)
c.831C>A (p.Thr277=)
c.864C>A (p.Thr288=)
c.882C>A (p.Thr294=)
2g.127428448C=CA1286884479PROCc.888C= (p.Thr296=)
c.212C=
c.990C= (p.Thr330=)
c.1071C= (p.Thr357=)
c.1053C= (p.Thr351=)
c.951C= (p.Thr317=)
n.1332-184G=
c.1131C= (p.Thr377=)
c.1233C= (p.Thr411=)
c.1173C= (p.Thr391=)
n.3607-184G=
n.4043-184G=
c.1056C= (p.Thr352=)
c.1074C= (p.Thr358=)
c.831C= (p.Thr277=)
c.864C= (p.Thr288=)
c.882C= (p.Thr294=)
2g.127428448C>GCA428618904PROCc.888C>G (p.Thr296=)
c.212C>G
c.990C>G (p.Thr330=)
c.1071C>G (p.Thr357=)
c.1053C>G (p.Thr351=)
c.951C>G (p.Thr317=)
n.1332-184G>C
c.1131C>G (p.Thr377=)
c.1233C>G (p.Thr411=)
c.1173C>G (p.Thr391=)
n.3607-184G>C
n.4043-184G>C
c.1056C>G (p.Thr352=)
c.1074C>G (p.Thr358=)
c.831C>G (p.Thr277=)
c.864C>G (p.Thr288=)
c.882C>G (p.Thr294=)
 COSMIC COSMIC
2g.127428448C>TCA1859480PROCc.888C>T (p.Thr296=)
c.212C>T
c.990C>T (p.Thr330=)
c.1071C>T (p.Thr357=)
c.1053C>T (p.Thr351=)
c.951C>T (p.Thr317=)
n.1332-184G>A
c.1131C>T (p.Thr377=)
c.1233C>T (p.Thr411=)
c.1173C>T (p.Thr391=)
n.3607-184G>A
n.4043-184G>A
c.1056C>T (p.Thr352=)
c.1074C>T (p.Thr358=)
c.831C>T (p.Thr277=)
c.864C>T (p.Thr288=)
c.882C>T (p.Thr294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428449_127428451delCA2586969906PROCc.889_891del (p.Asp297del)
c.213_215del
c.991_993del (p.Asp331del)
c.1072_1074del (p.Asp358del)
c.1054_1056del (p.Asp352del)
c.952_954del (p.Asp318del)
n.1332-186_1332-184del
c.1132_1134del (p.Asp378del)
c.1234_1236del (p.Asp412del)
c.1174_1176del (p.Asp392del)
n.3607-186_3607-184del
n.4043-186_4043-184del
c.1057_1059del (p.Asp353del)
c.1075_1077del (p.Asp359del)
c.832_834del (p.Asp278del)
c.865_867del (p.Asp289del)
c.883_885del (p.Asp295del)
2g.127428449G>ACA1859482PROCc.889G>A (p.Asp297Asn)
c.213G>A
c.991G>A (p.Asp331Asn)
c.1072G>A (p.Asp358Asn)
c.1054G>A (p.Asp352Asn)
c.952G>A (p.Asp318Asn)
n.1332-185C>T
c.1132G>A (p.Asp378Asn)
c.1234G>A (p.Asp412Asn)
c.1174G>A (p.Asp392Asn)
n.3607-185C>T
n.4043-185C>T
c.1057G>A (p.Asp353Asn)
c.1075G>A (p.Asp359Asn)
c.832G>A (p.Asp278Asn)
c.865G>A (p.Asp289Asn)
c.883G>A (p.Asp295Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428449G>CCA1859481PROCc.889G>C (p.Asp297His)
c.213G>C
c.991G>C (p.Asp331His)
c.1072G>C (p.Asp358His)
c.1054G>C (p.Asp352His)
c.952G>C (p.Asp318His)
n.1332-185C>G
c.1132G>C (p.Asp378His)
c.1234G>C (p.Asp412His)
c.1174G>C (p.Asp392His)
n.3607-185C>G
n.4043-185C>G
c.1057G>C (p.Asp353His)
c.1075G>C (p.Asp359His)
c.832G>C (p.Asp278His)
c.865G>C (p.Asp289His)
c.883G>C (p.Asp295His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428449G=CA1286884480PROCc.889G= (p.Asp297=)
c.213G=
c.991G= (p.Asp331=)
c.1072G= (p.Asp358=)
c.1054G= (p.Asp352=)
c.952G= (p.Asp318=)
n.1332-185C=
c.1132G= (p.Asp378=)
c.1234G= (p.Asp412=)
c.1174G= (p.Asp392=)
n.3607-185C=
n.4043-185C=
c.1057G= (p.Asp353=)
c.1075G= (p.Asp359=)
c.832G= (p.Asp278=)
c.865G= (p.Asp289=)
c.883G= (p.Asp295=)
2g.127428449G>TCA348404637PROCc.889G>T (p.Asp297Tyr)
c.213G>T
c.991G>T (p.Asp331Tyr)
c.1072G>T (p.Asp358Tyr)
c.1054G>T (p.Asp352Tyr)
c.952G>T (p.Asp318Tyr)
n.1332-185C>A
c.1132G>T (p.Asp378Tyr)
c.1234G>T (p.Asp412Tyr)
c.1174G>T (p.Asp392Tyr)
n.3607-185C>A
n.4043-185C>A
c.1057G>T (p.Asp353Tyr)
c.1075G>T (p.Asp359Tyr)
c.832G>T (p.Asp278Tyr)
c.865G>T (p.Asp289Tyr)
c.883G>T (p.Asp295Tyr)
 gnomAD v4
2g.127428449_127428451delinsCATCA2586969907PROCc.889_891delinsCAT (p.Asp297His)
c.213_215delinsCAT
c.991_993delinsCAT (p.Asp331His)
c.1072_1074delinsCAT (p.Asp358His)
c.1054_1056delinsCAT (p.Asp352His)
c.952_954delinsCAT (p.Asp318His)
n.1332-187_1332-185delinsATG
c.1132_1134delinsCAT (p.Asp378His)
c.1234_1236delinsCAT (p.Asp412His)
c.1174_1176delinsCAT (p.Asp392His)
n.3607-187_3607-185delinsATG
n.4043-187_4043-185delinsATG
c.1057_1059delinsCAT (p.Asp353His)
c.1075_1077delinsCAT (p.Asp359His)
c.832_834delinsCAT (p.Asp278His)
c.865_867delinsCAT (p.Asp289His)
c.883_885delinsCAT (p.Asp295His)
2g.127428450A>CCA348404640PROCc.890A>C (p.Asp297Ala)
c.214A>C
c.992A>C (p.Asp331Ala)
c.1073A>C (p.Asp358Ala)
c.1055A>C (p.Asp352Ala)
c.953A>C (p.Asp318Ala)
n.1332-186T>G
c.1133A>C (p.Asp378Ala)
c.1235A>C (p.Asp412Ala)
c.1175A>C (p.Asp392Ala)
n.3607-186T>G
n.4043-186T>G
c.1058A>C (p.Asp353Ala)
c.1076A>C (p.Asp359Ala)
c.833A>C (p.Asp278Ala)
c.866A>C (p.Asp289Ala)
c.884A>C (p.Asp295Ala)
2g.127428450A>GCA348404643PROCc.890A>G (p.Asp297Gly)
c.214A>G
c.992A>G (p.Asp331Gly)
c.1073A>G (p.Asp358Gly)
c.1055A>G (p.Asp352Gly)
c.953A>G (p.Asp318Gly)
n.1332-186T>C
c.1133A>G (p.Asp378Gly)
c.1235A>G (p.Asp412Gly)
c.1175A>G (p.Asp392Gly)
n.3607-186T>C
n.4043-186T>C
c.1058A>G (p.Asp353Gly)
c.1076A>G (p.Asp359Gly)
c.833A>G (p.Asp278Gly)
c.866A>G (p.Asp289Gly)
c.884A>G (p.Asp295Gly)
2g.127428450A>TCA348404646PROCc.890A>T (p.Asp297Val)
c.214A>T
c.992A>T (p.Asp331Val)
c.1073A>T (p.Asp358Val)
c.1055A>T (p.Asp352Val)
c.953A>T (p.Asp318Val)
n.1332-186T>A
c.1133A>T (p.Asp378Val)
c.1235A>T (p.Asp412Val)
c.1175A>T (p.Asp392Val)
n.3607-186T>A
n.4043-186T>A
c.1058A>T (p.Asp353Val)
c.1076A>T (p.Asp359Val)
c.833A>T (p.Asp278Val)
c.866A>T (p.Asp289Val)
c.884A>T (p.Asp295Val)
2g.127428451C>ACA348404650PROCc.891C>A (p.Asp297Glu)
c.215C>A
c.993C>A (p.Asp331Glu)
c.1074C>A (p.Asp358Glu)
c.1056C>A (p.Asp352Glu)
c.954C>A (p.Asp318Glu)
n.1332-187G>T
c.1134C>A (p.Asp378Glu)
c.1236C>A (p.Asp412Glu)
c.1176C>A (p.Asp392Glu)
n.3607-187G>T
n.4043-187G>T
c.1059C>A (p.Asp353Glu)
c.1077C>A (p.Asp359Glu)
c.834C>A (p.Asp278Glu)
c.867C>A (p.Asp289Glu)
c.885C>A (p.Asp295Glu)
2g.127428451C=CA1286884481PROCc.891C= (p.Asp297=)
c.215C=
c.993C= (p.Asp331=)
c.1074C= (p.Asp358=)
c.1056C= (p.Asp352=)
c.954C= (p.Asp318=)
n.1332-187G=
c.1134C= (p.Asp378=)
c.1236C= (p.Asp412=)
c.1176C= (p.Asp392=)
n.3607-187G=
n.4043-187G=
c.1059C= (p.Asp353=)
c.1077C= (p.Asp359=)
c.834C= (p.Asp278=)
c.867C= (p.Asp289=)
c.885C= (p.Asp295=)
2g.127428451C>GCA348404653PROCc.891C>G (p.Asp297Glu)
c.215C>G
c.993C>G (p.Asp331Glu)
c.1074C>G (p.Asp358Glu)
c.1056C>G (p.Asp352Glu)
c.954C>G (p.Asp318Glu)
n.1332-187G>C
c.1134C>G (p.Asp378Glu)
c.1236C>G (p.Asp412Glu)
c.1176C>G (p.Asp392Glu)
n.3607-187G>C
n.4043-187G>C
c.1059C>G (p.Asp353Glu)
c.1077C>G (p.Asp359Glu)
c.834C>G (p.Asp278Glu)
c.867C>G (p.Asp289Glu)
c.885C>G (p.Asp295Glu)
2g.127428451C>TCA1859483PROCc.891C>T (p.Asp297=)
c.215C>T
c.993C>T (p.Asp331=)
c.1074C>T (p.Asp358=)
c.1056C>T (p.Asp352=)
c.954C>T (p.Asp318=)
n.1332-187G>A
c.1134C>T (p.Asp378=)
c.1236C>T (p.Asp412=)
c.1176C>T (p.Asp392=)
n.3607-187G>A
n.4043-187G>A
c.1059C>T (p.Asp353=)
c.1077C>T (p.Asp359=)
c.834C>T (p.Asp278=)
c.867C>T (p.Asp289=)
c.885C>T (p.Asp295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428452A>CCA348404657PROCc.892A>C (p.Asn298His)
c.216A>C
c.994A>C (p.Asn332His)
c.1075A>C (p.Asn359His)
c.1057A>C (p.Asn353His)
c.955A>C (p.Asn319His)
n.1332-188T>G
c.1135A>C (p.Asn379His)
c.1237A>C (p.Asn413His)
c.1177A>C (p.Asn393His)
n.3607-188T>G
n.4043-188T>G
c.1060A>C (p.Asn354His)
c.1078A>C (p.Asn360His)
c.835A>C (p.Asn279His)
c.868A>C (p.Asn290His)
c.886A>C (p.Asn296His)
2g.127428452A>GCA348404660PROCc.892A>G (p.Asn298Asp)
c.216A>G
c.994A>G (p.Asn332Asp)
c.1075A>G (p.Asn359Asp)
c.1057A>G (p.Asn353Asp)
c.955A>G (p.Asn319Asp)
n.1332-188T>C
c.1135A>G (p.Asn379Asp)
c.1237A>G (p.Asn413Asp)
c.1177A>G (p.Asn393Asp)
n.3607-188T>C
n.4043-188T>C
c.1060A>G (p.Asn354Asp)
c.1078A>G (p.Asn360Asp)
c.835A>G (p.Asn279Asp)
c.868A>G (p.Asn290Asp)
c.886A>G (p.Asn296Asp)
 gnomAD v4
2g.127428452A>TCA348404669PROCc.892A>T (p.Asn298Tyr)
c.216A>T
c.994A>T (p.Asn332Tyr)
c.1075A>T (p.Asn359Tyr)
c.1057A>T (p.Asn353Tyr)
c.955A>T (p.Asn319Tyr)
n.1332-188T>A
c.1135A>T (p.Asn379Tyr)
c.1237A>T (p.Asn413Tyr)
c.1177A>T (p.Asn393Tyr)
n.3607-188T>A
n.4043-188T>A
c.1060A>T (p.Asn354Tyr)
c.1078A>T (p.Asn360Tyr)
c.835A>T (p.Asn279Tyr)
c.868A>T (p.Asn290Tyr)
c.886A>T (p.Asn296Tyr)
2g.127428453delCA2586969908PROCc.893del (p.Asn298MetfsTer18)
c.217del
c.995del (p.Asn332MetfsTer18)
c.1076del (p.Asn359MetfsTer18)
c.1058del (p.Asn353MetfsTer18)
c.956del (p.Asn319MetfsTer18)
n.1332-188del
c.1136del (p.Asn379MetfsTer18)
c.1238del (p.Asn413MetfsTer18)
c.1178del (p.Asn393MetfsTer18)
n.3607-188del
n.4043-188del
c.1061del (p.Asn354MetfsTer18)
c.1079del (p.Asn360MetfsTer18)
c.836del (p.Asn279MetfsTer18)
c.869del (p.Asn290MetfsTer18)
c.887del (p.Asn296MetfsTer18)
2g.127428453A>CCA348404677PROCc.893A>C (p.Asn298Thr)
c.217A>C
c.995A>C (p.Asn332Thr)
c.1076A>C (p.Asn359Thr)
c.1058A>C (p.Asn353Thr)
c.956A>C (p.Asn319Thr)
n.1332-189T>G
c.1136A>C (p.Asn379Thr)
c.1238A>C (p.Asn413Thr)
c.1178A>C (p.Asn393Thr)
n.3607-189T>G
n.4043-189T>G
c.1061A>C (p.Asn354Thr)
c.1079A>C (p.Asn360Thr)
c.836A>C (p.Asn279Thr)
c.869A>C (p.Asn290Thr)
c.887A>C (p.Asn296Thr)
2g.127428453A>GCA348404675PROCc.893A>G (p.Asn298Ser)
c.217A>G
c.995A>G (p.Asn332Ser)
c.1076A>G (p.Asn359Ser)
c.1058A>G (p.Asn353Ser)
c.956A>G (p.Asn319Ser)
n.1332-189T>C
c.1136A>G (p.Asn379Ser)
c.1238A>G (p.Asn413Ser)
c.1178A>G (p.Asn393Ser)
n.3607-189T>C
n.4043-189T>C
c.1061A>G (p.Asn354Ser)
c.1079A>G (p.Asn360Ser)
c.836A>G (p.Asn279Ser)
c.869A>G (p.Asn290Ser)
c.887A>G (p.Asn296Ser)
2g.127428453A>TCA348404674PROCc.893A>T (p.Asn298Ile)
c.217A>T
c.995A>T (p.Asn332Ile)
c.1076A>T (p.Asn359Ile)
c.1058A>T (p.Asn353Ile)
c.956A>T (p.Asn319Ile)
n.1332-189T>A
c.1136A>T (p.Asn379Ile)
c.1238A>T (p.Asn413Ile)
c.1178A>T (p.Asn393Ile)
n.3607-189T>A
n.4043-189T>A
c.1061A>T (p.Asn354Ile)
c.1079A>T (p.Asn360Ile)
c.836A>T (p.Asn279Ile)
c.869A>T (p.Asn290Ile)
c.887A>T (p.Asn296Ile)
2g.127428454T>ACA348404681PROCc.894T>A (p.Asn298Lys)
c.218T>A
c.996T>A (p.Asn332Lys)
c.1077T>A (p.Asn359Lys)
c.1059T>A (p.Asn353Lys)
c.957T>A (p.Asn319Lys)
n.1332-190A>T
c.1137T>A (p.Asn379Lys)
c.1239T>A (p.Asn413Lys)
c.1179T>A (p.Asn393Lys)
n.3607-190A>T
n.4043-190A>T
c.1062T>A (p.Asn354Lys)
c.1080T>A (p.Asn360Lys)
c.837T>A (p.Asn279Lys)
c.870T>A (p.Asn290Lys)
c.888T>A (p.Asn296Lys)
2g.127428454T>CCA428618905PROCc.894T>C (p.Asn298=)
c.218T>C
c.996T>C (p.Asn332=)
c.1077T>C (p.Asn359=)
c.1059T>C (p.Asn353=)
c.957T>C (p.Asn319=)
n.1332-190A>G
c.1137T>C (p.Asn379=)
c.1239T>C (p.Asn413=)
c.1179T>C (p.Asn393=)
n.3607-190A>G
n.4043-190A>G
c.1062T>C (p.Asn354=)
c.1080T>C (p.Asn360=)
c.837T>C (p.Asn279=)
c.870T>C (p.Asn290=)
c.888T>C (p.Asn296=)
2g.127428454T>GCA348404683PROCc.894T>G (p.Asn298Lys)
c.218T>G
c.996T>G (p.Asn332Lys)
c.1077T>G (p.Asn359Lys)
c.1059T>G (p.Asn353Lys)
c.957T>G (p.Asn319Lys)
n.1332-190A>C
c.1137T>G (p.Asn379Lys)
c.1239T>G (p.Asn413Lys)
c.1179T>G (p.Asn393Lys)
n.3607-190A>C
n.4043-190A>C
c.1062T>G (p.Asn354Lys)
c.1080T>G (p.Asn360Lys)
c.837T>G (p.Asn279Lys)
c.870T>G (p.Asn290Lys)
c.888T>G (p.Asn296Lys)
2g.127428455G>ACA348404686PROCc.895G>A (p.Asp299Asn)
c.219G>A
c.997G>A (p.Asp333Asn)
c.1078G>A (p.Asp360Asn)
c.1060G>A (p.Asp354Asn)
c.958G>A (p.Asp320Asn)
n.1332-191C>T
c.1138G>A (p.Asp380Asn)
c.1240G>A (p.Asp414Asn)
c.1180G>A (p.Asp394Asn)
n.3607-191C>T
n.4043-191C>T
c.1063G>A (p.Asp355Asn)
c.1081G>A (p.Asp361Asn)
c.838G>A (p.Asp280Asn)
c.871G>A (p.Asp291Asn)
c.889G>A (p.Asp297Asn)
 COSMIC
2g.127428455G>CCA348404689PROCc.895G>C (p.Asp299His)
c.219G>C
c.997G>C (p.Asp333His)
c.1078G>C (p.Asp360His)
c.1060G>C (p.Asp354His)
c.958G>C (p.Asp320His)
n.1332-191C>G
c.1138G>C (p.Asp380His)
c.1240G>C (p.Asp414His)
c.1180G>C (p.Asp394His)
n.3607-191C>G
n.4043-191C>G
c.1063G>C (p.Asp355His)
c.1081G>C (p.Asp361His)
c.838G>C (p.Asp280His)
c.871G>C (p.Asp291His)
c.889G>C (p.Asp297His)
2g.127428455G>TCA348404692PROCc.895G>T (p.Asp299Tyr)
c.219G>T
c.997G>T (p.Asp333Tyr)
c.1078G>T (p.Asp360Tyr)
c.1060G>T (p.Asp354Tyr)
c.958G>T (p.Asp320Tyr)
n.1332-191C>A
c.1138G>T (p.Asp380Tyr)
c.1240G>T (p.Asp414Tyr)
c.1180G>T (p.Asp394Tyr)
n.3607-191C>A
n.4043-191C>A
c.1063G>T (p.Asp355Tyr)
c.1081G>T (p.Asp361Tyr)
c.838G>T (p.Asp280Tyr)
c.871G>T (p.Asp291Tyr)
c.889G>T (p.Asp297Tyr)
2g.127428456A>CCA348404695PROCc.896A>C (p.Asp299Ala)
c.220A>C
c.998A>C (p.Asp333Ala)
c.1079A>C (p.Asp360Ala)
c.1061A>C (p.Asp354Ala)
c.959A>C (p.Asp320Ala)
n.1332-192T>G
c.1139A>C (p.Asp380Ala)
c.1241A>C (p.Asp414Ala)
c.1181A>C (p.Asp394Ala)
n.3607-192T>G
n.4043-192T>G
c.1064A>C (p.Asp355Ala)
c.1082A>C (p.Asp361Ala)
c.839A>C (p.Asp280Ala)
c.872A>C (p.Asp291Ala)
c.890A>C (p.Asp297Ala)
2g.127428456A>GCA348404698PROCc.896A>G (p.Asp299Gly)
c.220A>G
c.998A>G (p.Asp333Gly)
c.1079A>G (p.Asp360Gly)
c.1061A>G (p.Asp354Gly)
c.959A>G (p.Asp320Gly)
n.1332-192T>C
c.1139A>G (p.Asp380Gly)
c.1241A>G (p.Asp414Gly)
c.1181A>G (p.Asp394Gly)
n.3607-192T>C
n.4043-192T>C
c.1064A>G (p.Asp355Gly)
c.1082A>G (p.Asp361Gly)
c.839A>G (p.Asp280Gly)
c.872A>G (p.Asp291Gly)
c.890A>G (p.Asp297Gly)
2g.127428456A>TCA348404700PROCc.896A>T (p.Asp299Val)
c.220A>T
c.998A>T (p.Asp333Val)
c.1079A>T (p.Asp360Val)
c.1061A>T (p.Asp354Val)
c.959A>T (p.Asp320Val)
n.1332-192T>A
c.1139A>T (p.Asp380Val)
c.1241A>T (p.Asp414Val)
c.1181A>T (p.Asp394Val)
n.3607-192T>A
n.4043-192T>A
c.1064A>T (p.Asp355Val)
c.1082A>T (p.Asp361Val)
c.839A>T (p.Asp280Val)
c.872A>T (p.Asp291Val)
c.890A>T (p.Asp297Val)
 gnomAD v4
2g.127428457_127428458delCA2586969909PROCc.897_898del (p.Ile300ArgfsTer?)
c.221_222del
c.999_1000del (p.Ile334ArgfsTer?)
c.1080_1081del (p.Ile361ArgfsTer?)
c.1062_1063del (p.Ile355ArgfsTer?)
c.960_961del (p.Ile321ArgfsTer?)
n.1332-193_1332-192del
c.1140_1141del (p.Ile381ArgfsTer?)
c.1242_1243del (p.Ile415ArgfsTer?)
c.1182_1183del (p.Ile395ArgfsTer?)
n.3607-193_3607-192del
n.4043-193_4043-192del
c.1065_1066del (p.Ile356ArgfsTer?)
c.1083_1084del (p.Ile362ArgfsTer?)
c.840_841del (p.Ile281ArgfsTer?)
c.873_874del (p.Ile292ArgfsTer?)
c.891_892del (p.Ile298ArgfsTer?)
2g.127428457C>ACA348404703PROCc.897C>A (p.Asp299Glu)
c.221C>A
c.999C>A (p.Asp333Glu)
c.1080C>A (p.Asp360Glu)
c.1062C>A (p.Asp354Glu)
c.960C>A (p.Asp320Glu)
n.1332-193G>T
c.1140C>A (p.Asp380Glu)
c.1242C>A (p.Asp414Glu)
c.1182C>A (p.Asp394Glu)
n.3607-193G>T
n.4043-193G>T
c.1065C>A (p.Asp355Glu)
c.1083C>A (p.Asp361Glu)
c.840C>A (p.Asp280Glu)
c.873C>A (p.Asp291Glu)
c.891C>A (p.Asp297Glu)
2g.127428457C>GCA348404706PROCc.897C>G (p.Asp299Glu)
c.221C>G
c.999C>G (p.Asp333Glu)
c.1080C>G (p.Asp360Glu)
c.1062C>G (p.Asp354Glu)
c.960C>G (p.Asp320Glu)
n.1332-193G>C
c.1140C>G (p.Asp380Glu)
c.1242C>G (p.Asp414Glu)
c.1182C>G (p.Asp394Glu)
n.3607-193G>C
n.4043-193G>C
c.1065C>G (p.Asp355Glu)
c.1083C>G (p.Asp361Glu)
c.840C>G (p.Asp280Glu)
c.873C>G (p.Asp291Glu)
c.891C>G (p.Asp297Glu)
2g.127428457C>TCA428618906PROCc.897C>T (p.Asp299=)
c.221C>T
c.999C>T (p.Asp333=)
c.1080C>T (p.Asp360=)
c.1062C>T (p.Asp354=)
c.960C>T (p.Asp320=)
n.1332-193G>A
c.1140C>T (p.Asp380=)
c.1242C>T (p.Asp414=)
c.1182C>T (p.Asp394=)
n.3607-193G>A
n.4043-193G>A
c.1065C>T (p.Asp355=)
c.1083C>T (p.Asp361=)
c.840C>T (p.Asp280=)
c.873C>T (p.Asp291=)
c.891C>T (p.Asp297=)
 gnomAD v4
2g.127428458A>CCA348404708PROCc.898A>C (p.Ile300Leu)
c.222A>C
c.1000A>C (p.Ile334Leu)
c.1081A>C (p.Ile361Leu)
c.1063A>C (p.Ile355Leu)
c.961A>C (p.Ile321Leu)
n.1332-194T>G
c.1141A>C (p.Ile381Leu)
c.1243A>C (p.Ile415Leu)
c.1183A>C (p.Ile395Leu)
n.3607-194T>G
n.4043-194T>G
c.1066A>C (p.Ile356Leu)
c.1084A>C (p.Ile362Leu)
c.841A>C (p.Ile281Leu)
c.874A>C (p.Ile292Leu)
c.892A>C (p.Ile298Leu)
2g.127428458A>GCA348404709PROCc.898A>G (p.Ile300Val)
c.222A>G
c.1000A>G (p.Ile334Val)
c.1081A>G (p.Ile361Val)
c.1063A>G (p.Ile355Val)
c.961A>G (p.Ile321Val)
n.1332-194T>C
c.1141A>G (p.Ile381Val)
c.1243A>G (p.Ile415Val)
c.1183A>G (p.Ile395Val)
n.3607-194T>C
n.4043-194T>C
c.1066A>G (p.Ile356Val)
c.1084A>G (p.Ile362Val)
c.841A>G (p.Ile281Val)
c.874A>G (p.Ile292Val)
c.892A>G (p.Ile298Val)
2g.127428458A>TCA348404712PROCc.898A>T (p.Ile300Phe)
c.222A>T
c.1000A>T (p.Ile334Phe)
c.1081A>T (p.Ile361Phe)
c.1063A>T (p.Ile355Phe)
c.961A>T (p.Ile321Phe)
n.1332-194T>A
c.1141A>T (p.Ile381Phe)
c.1243A>T (p.Ile415Phe)
c.1183A>T (p.Ile395Phe)
n.3607-194T>A
n.4043-194T>A
c.1066A>T (p.Ile356Phe)
c.1084A>T (p.Ile362Phe)
c.841A>T (p.Ile281Phe)
c.874A>T (p.Ile292Phe)
c.892A>T (p.Ile298Phe)
2g.127428459T>ACA348404717PROCc.899T>A (p.Ile300Asn)
c.223T>A
c.1001T>A (p.Ile334Asn)
c.1082T>A (p.Ile361Asn)
c.1064T>A (p.Ile355Asn)
c.962T>A (p.Ile321Asn)
n.1332-195A>T
c.1142T>A (p.Ile381Asn)
c.1244T>A (p.Ile415Asn)
c.1184T>A (p.Ile395Asn)
n.3607-195A>T
n.4043-195A>T
c.1067T>A (p.Ile356Asn)
c.1085T>A (p.Ile362Asn)
c.842T>A (p.Ile281Asn)
c.875T>A (p.Ile292Asn)
c.893T>A (p.Ile298Asn)
2g.127428459T>CCA348404718PROCc.899T>C (p.Ile300Thr)
c.223T>C
c.1001T>C (p.Ile334Thr)
c.1082T>C (p.Ile361Thr)
c.1064T>C (p.Ile355Thr)
c.962T>C (p.Ile321Thr)
n.1332-195A>G
c.1142T>C (p.Ile381Thr)
c.1244T>C (p.Ile415Thr)
c.1184T>C (p.Ile395Thr)
n.3607-195A>G
n.4043-195A>G
c.1067T>C (p.Ile356Thr)
c.1085T>C (p.Ile362Thr)
c.842T>C (p.Ile281Thr)
c.875T>C (p.Ile292Thr)
c.893T>C (p.Ile298Thr)
2g.127428459T>GCA348404721PROCc.899T>G (p.Ile300Ser)
c.223T>G
c.1001T>G (p.Ile334Ser)
c.1082T>G (p.Ile361Ser)
c.1064T>G (p.Ile355Ser)
c.962T>G (p.Ile321Ser)
n.1332-195A>C
c.1142T>G (p.Ile381Ser)
c.1244T>G (p.Ile415Ser)
c.1184T>G (p.Ile395Ser)
n.3607-195A>C
n.4043-195A>C
c.1067T>G (p.Ile356Ser)
c.1085T>G (p.Ile362Ser)
c.842T>G (p.Ile281Ser)
c.875T>G (p.Ile292Ser)
c.893T>G (p.Ile298Ser)
2g.127428460C>ACA428618907PROCc.900C>A (p.Ile300=)
c.224C>A
c.1002C>A (p.Ile334=)
c.1083C>A (p.Ile361=)
c.1065C>A (p.Ile355=)
c.963C>A (p.Ile321=)
n.1332-196G>T
c.1143C>A (p.Ile381=)
c.1245C>A (p.Ile415=)
c.1185C>A (p.Ile395=)
n.3607-196G>T
n.4043-196G>T
c.1068C>A (p.Ile356=)
c.1086C>A (p.Ile362=)
c.843C>A (p.Ile281=)
c.876C>A (p.Ile292=)
c.894C>A (p.Ile298=)
2g.127428460C=CA1286884482PROCc.900C= (p.Ile300=)
c.224C=
c.1002C= (p.Ile334=)
c.1083C= (p.Ile361=)
c.1065C= (p.Ile355=)
c.963C= (p.Ile321=)
n.1332-196G=
c.1143C= (p.Ile381=)
c.1245C= (p.Ile415=)
c.1185C= (p.Ile395=)
n.3607-196G=
n.4043-196G=
c.1068C= (p.Ile356=)
c.1086C= (p.Ile362=)
c.843C= (p.Ile281=)
c.876C= (p.Ile292=)
c.894C= (p.Ile298=)
2g.127428460C>GCA348404725PROCc.900C>G (p.Ile300Met)
c.224C>G
c.1002C>G (p.Ile334Met)
c.1083C>G (p.Ile361Met)
c.1065C>G (p.Ile355Met)
c.963C>G (p.Ile321Met)
n.1332-196G>C
c.1143C>G (p.Ile381Met)
c.1245C>G (p.Ile415Met)
c.1185C>G (p.Ile395Met)
n.3607-196G>C
n.4043-196G>C
c.1068C>G (p.Ile356Met)
c.1086C>G (p.Ile362Met)
c.843C>G (p.Ile281Met)
c.876C>G (p.Ile292Met)
c.894C>G (p.Ile298Met)
 gnomAD v4 COSMIC
2g.127428460C>TCA1859484PROCc.900C>T (p.Ile300=)
c.224C>T
c.1002C>T (p.Ile334=)
c.1083C>T (p.Ile361=)
c.1065C>T (p.Ile355=)
c.963C>T (p.Ile321=)
n.1332-196G>A
c.1143C>T (p.Ile381=)
c.1245C>T (p.Ile415=)
c.1185C>T (p.Ile395=)
n.3607-196G>A
n.4043-196G>A
c.1068C>T (p.Ile356=)
c.1086C>T (p.Ile362=)
c.843C>T (p.Ile281=)
c.876C>T (p.Ile292=)
c.894C>T (p.Ile298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428461G>ACA348404731PROCc.901G>A (p.Ala301Thr)
c.225G>A
c.1003G>A (p.Ala335Thr)
c.1084G>A (p.Ala362Thr)
c.1066G>A (p.Ala356Thr)
c.964G>A (p.Ala322Thr)
n.1332-197C>T
c.1144G>A (p.Ala382Thr)
c.1246G>A (p.Ala416Thr)
c.1186G>A (p.Ala396Thr)
n.3607-197C>T
n.4043-197C>T
c.1069G>A (p.Ala357Thr)
c.1087G>A (p.Ala363Thr)
c.844G>A (p.Ala282Thr)
c.877G>A (p.Ala293Thr)
c.895G>A (p.Ala299Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428461G>CCA348404733PROCc.901G>C (p.Ala301Pro)
c.225G>C
c.1003G>C (p.Ala335Pro)
c.1084G>C (p.Ala362Pro)
c.1066G>C (p.Ala356Pro)
c.964G>C (p.Ala322Pro)
n.1332-197C>G
c.1144G>C (p.Ala382Pro)
c.1246G>C (p.Ala416Pro)
c.1186G>C (p.Ala396Pro)
n.3607-197C>G
n.4043-197C>G
c.1069G>C (p.Ala357Pro)
c.1087G>C (p.Ala363Pro)
c.844G>C (p.Ala282Pro)
c.877G>C (p.Ala293Pro)
c.895G>C (p.Ala299Pro)
2g.127428461G=CA1286884483PROCc.901G= (p.Ala301=)
c.225G=
c.1003G= (p.Ala335=)
c.1084G= (p.Ala362=)
c.1066G= (p.Ala356=)
c.964G= (p.Ala322=)
n.1332-197C=
c.1144G= (p.Ala382=)
c.1246G= (p.Ala416=)
c.1186G= (p.Ala396=)
n.3607-197C=
n.4043-197C=
c.1069G= (p.Ala357=)
c.1087G= (p.Ala363=)
c.844G= (p.Ala282=)
c.877G= (p.Ala293=)
c.895G= (p.Ala299=)
2g.127428461G>TCA348404737PROCc.901G>T (p.Ala301Ser)
c.225G>T
c.1003G>T (p.Ala335Ser)
c.1084G>T (p.Ala362Ser)
c.1066G>T (p.Ala356Ser)
c.964G>T (p.Ala322Ser)
n.1332-197C>A
c.1144G>T (p.Ala382Ser)
c.1246G>T (p.Ala416Ser)
c.1186G>T (p.Ala396Ser)
n.3607-197C>A
n.4043-197C>A
c.1069G>T (p.Ala357Ser)
c.1087G>T (p.Ala363Ser)
c.844G>T (p.Ala282Ser)
c.877G>T (p.Ala293Ser)
c.895G>T (p.Ala299Ser)
 dbSNP gnomAD v4
2g.127428462C>ACA348404740PROCc.902C>A (p.Ala301Glu)
c.226C>A
c.1004C>A (p.Ala335Glu)
c.1085C>A (p.Ala362Glu)
c.1067C>A (p.Ala356Glu)
c.965C>A (p.Ala322Glu)
n.1332-198G>T
c.1145C>A (p.Ala382Glu)
c.1247C>A (p.Ala416Glu)
c.1187C>A (p.Ala396Glu)
n.3607-198G>T
n.4043-198G>T
c.1070C>A (p.Ala357Glu)
c.1088C>A (p.Ala363Glu)
c.845C>A (p.Ala282Glu)
c.878C>A (p.Ala293Glu)
c.896C>A (p.Ala299Glu)
2g.127428462C=CA1286884484PROCc.902C= (p.Ala301=)
c.226C=
c.1004C= (p.Ala335=)
c.1085C= (p.Ala362=)
c.1067C= (p.Ala356=)
c.965C= (p.Ala322=)
n.1332-198G=
c.1145C= (p.Ala382=)
c.1247C= (p.Ala416=)
c.1187C= (p.Ala396=)
n.3607-198G=
n.4043-198G=
c.1070C= (p.Ala357=)
c.1088C= (p.Ala363=)
c.845C= (p.Ala282=)
c.878C= (p.Ala293=)
c.896C= (p.Ala299=)
2g.127428462C>GCA348404742PROCc.902C>G (p.Ala301Gly)
c.226C>G
c.1004C>G (p.Ala335Gly)
c.1085C>G (p.Ala362Gly)
c.1067C>G (p.Ala356Gly)
c.965C>G (p.Ala322Gly)
n.1332-198G>C
c.1145C>G (p.Ala382Gly)
c.1247C>G (p.Ala416Gly)
c.1187C>G (p.Ala396Gly)
n.3607-198G>C
n.4043-198G>C
c.1070C>G (p.Ala357Gly)
c.1088C>G (p.Ala363Gly)
c.845C>G (p.Ala282Gly)
c.878C>G (p.Ala293Gly)
c.896C>G (p.Ala299Gly)
2g.127428462C>TCA114391PROCc.902C>T (p.Ala301Val)
c.226C>T
c.1004C>T (p.Ala335Val)
c.1085C>T (p.Ala362Val)
c.1067C>T (p.Ala356Val)
c.965C>T (p.Ala322Val)
n.1332-198G>A
c.1145C>T (p.Ala382Val)
c.1247C>T (p.Ala416Val)
c.1187C>T (p.Ala396Val)
n.3607-198G>A
n.4043-198G>A
c.1070C>T (p.Ala357Val)
c.1088C>T (p.Ala363Val)
c.845C>T (p.Ala282Val)
c.878C>T (p.Ala293Val)
c.896C>T (p.Ala299Val)
 ClinVar dbSNP gnomAD v4
2g.127428463A=CA1286884485PROCc.903A= (p.Ala301=)
c.227A=
c.1005A= (p.Ala335=)
c.1086A= (p.Ala362=)
c.1068A= (p.Ala356=)
c.966A= (p.Ala322=)
n.1332-199T=
c.1146A= (p.Ala382=)
c.1248A= (p.Ala416=)
c.1188A= (p.Ala396=)
n.3607-199T=
n.4043-199T=
c.1071A= (p.Ala357=)
c.1089A= (p.Ala363=)
c.846A= (p.Ala282=)
c.879A= (p.Ala293=)
c.897A= (p.Ala299=)
2g.127428463A>CCA1859485PROCc.903A>C (p.Ala301=)
c.227A>C
c.1005A>C (p.Ala335=)
c.1086A>C (p.Ala362=)
c.1068A>C (p.Ala356=)
c.966A>C (p.Ala322=)
n.1332-199T>G
c.1146A>C (p.Ala382=)
c.1248A>C (p.Ala416=)
c.1188A>C (p.Ala396=)
n.3607-199T>G
n.4043-199T>G
c.1071A>C (p.Ala357=)
c.1089A>C (p.Ala363=)
c.846A>C (p.Ala282=)
c.879A>C (p.Ala293=)
c.897A>C (p.Ala299=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428463A>GCA428618908PROCc.903A>G (p.Ala301=)
c.227A>G
c.1005A>G (p.Ala335=)
c.1086A>G (p.Ala362=)
c.1068A>G (p.Ala356=)
c.966A>G (p.Ala322=)
n.1332-199T>C
c.1146A>G (p.Ala382=)
c.1248A>G (p.Ala416=)
c.1188A>G (p.Ala396=)
n.3607-199T>C
n.4043-199T>C
c.1071A>G (p.Ala357=)
c.1089A>G (p.Ala363=)
c.846A>G (p.Ala282=)
c.879A>G (p.Ala293=)
c.897A>G (p.Ala299=)
2g.127428463A>TCA428618909PROCc.903A>T (p.Ala301=)
c.227A>T
c.1005A>T (p.Ala335=)
c.1086A>T (p.Ala362=)
c.1068A>T (p.Ala356=)
c.966A>T (p.Ala322=)
n.1332-199T>A
c.1146A>T (p.Ala382=)
c.1248A>T (p.Ala416=)
c.1188A>T (p.Ala396=)
n.3607-199T>A
n.4043-199T>A
c.1071A>T (p.Ala357=)
c.1089A>T (p.Ala363=)
c.846A>T (p.Ala282=)
c.879A>T (p.Ala293=)
c.897A>T (p.Ala299=)
2g.127428464C>ACA348404747PROCc.904C>A (p.Leu302Met)
c.228C>A
c.1006C>A (p.Leu336Met)
c.1087C>A (p.Leu363Met)
c.1069C>A (p.Leu357Met)
c.967C>A (p.Leu323Met)
n.1332-200G>T
c.1147C>A (p.Leu383Met)
c.1249C>A (p.Leu417Met)
c.1189C>A (p.Leu397Met)
n.3607-200G>T
n.4043-200G>T
c.1072C>A (p.Leu358Met)
c.1090C>A (p.Leu364Met)
c.847C>A (p.Leu283Met)
c.880C>A (p.Leu294Met)
c.898C>A (p.Leu300Met)
2g.127428464C>GCA348404751PROCc.904C>G (p.Leu302Val)
c.228C>G
c.1006C>G (p.Leu336Val)
c.1087C>G (p.Leu363Val)
c.1069C>G (p.Leu357Val)
c.967C>G (p.Leu323Val)
n.1332-200G>C
c.1147C>G (p.Leu383Val)
c.1249C>G (p.Leu417Val)
c.1189C>G (p.Leu397Val)
n.3607-200G>C
n.4043-200G>C
c.1072C>G (p.Leu358Val)
c.1090C>G (p.Leu364Val)
c.847C>G (p.Leu283Val)
c.880C>G (p.Leu294Val)
c.898C>G (p.Leu300Val)
2g.127428464C>TCA428618910PROCc.904C>T (p.Leu302=)
c.228C>T
c.1006C>T (p.Leu336=)
c.1087C>T (p.Leu363=)
c.1069C>T (p.Leu357=)
c.967C>T (p.Leu323=)
n.1332-200G>A
c.1147C>T (p.Leu383=)
c.1249C>T (p.Leu417=)
c.1189C>T (p.Leu397=)
n.3607-200G>A
n.4043-200G>A
c.1072C>T (p.Leu358=)
c.1090C>T (p.Leu364=)
c.847C>T (p.Leu283=)
c.880C>T (p.Leu294=)
c.898C>T (p.Leu300=)
2g.127428465T>ACA348404753PROCc.905T>A (p.Leu302Gln)
c.229T>A
c.1007T>A (p.Leu336Gln)
c.1088T>A (p.Leu363Gln)
c.1070T>A (p.Leu357Gln)
c.968T>A (p.Leu323Gln)
n.1332-201A>T
c.1148T>A (p.Leu383Gln)
c.1250T>A (p.Leu417Gln)
c.1190T>A (p.Leu397Gln)
n.3607-201A>T
n.4043-201A>T
c.1073T>A (p.Leu358Gln)
c.1091T>A (p.Leu364Gln)
c.848T>A (p.Leu283Gln)
c.881T>A (p.Leu294Gln)
c.899T>A (p.Leu300Gln)
2g.127428465T>CCA348404757PROCc.905T>C (p.Leu302Pro)
c.229T>C
c.1007T>C (p.Leu336Pro)
c.1088T>C (p.Leu363Pro)
c.1070T>C (p.Leu357Pro)
c.968T>C (p.Leu323Pro)
n.1332-201A>G
c.1148T>C (p.Leu383Pro)
c.1250T>C (p.Leu417Pro)
c.1190T>C (p.Leu397Pro)
n.3607-201A>G
n.4043-201A>G
c.1073T>C (p.Leu358Pro)
c.1091T>C (p.Leu364Pro)
c.848T>C (p.Leu283Pro)
c.881T>C (p.Leu294Pro)
c.899T>C (p.Leu300Pro)
2g.127428465T>GCA348404759PROCc.905T>G (p.Leu302Arg)
c.229T>G
c.1007T>G (p.Leu336Arg)
c.1088T>G (p.Leu363Arg)
c.1070T>G (p.Leu357Arg)
c.968T>G (p.Leu323Arg)
n.1332-201A>C
c.1148T>G (p.Leu383Arg)
c.1250T>G (p.Leu417Arg)
c.1190T>G (p.Leu397Arg)
n.3607-201A>C
n.4043-201A>C
c.1073T>G (p.Leu358Arg)
c.1091T>G (p.Leu364Arg)
c.848T>G (p.Leu283Arg)
c.881T>G (p.Leu294Arg)
c.899T>G (p.Leu300Arg)
2g.127428466G>ACA428618911PROCc.906G>A (p.Leu302=)
c.230G>A
c.1008G>A (p.Leu336=)
c.1089G>A (p.Leu363=)
c.1071G>A (p.Leu357=)
c.969G>A (p.Leu323=)
n.1332-202C>T
c.1149G>A (p.Leu383=)
c.1251G>A (p.Leu417=)
c.1191G>A (p.Leu397=)
n.3607-202C>T
n.4043-202C>T
c.1074G>A (p.Leu358=)
c.1092G>A (p.Leu364=)
c.849G>A (p.Leu283=)
c.882G>A (p.Leu294=)
c.900G>A (p.Leu300=)
2g.127428466G>CCA428618912PROCc.906G>C (p.Leu302=)
c.230G>C
c.1008G>C (p.Leu336=)
c.1089G>C (p.Leu363=)
c.1071G>C (p.Leu357=)
c.969G>C (p.Leu323=)
n.1332-202C>G
c.1149G>C (p.Leu383=)
c.1251G>C (p.Leu417=)
c.1191G>C (p.Leu397=)
n.3607-202C>G
n.4043-202C>G
c.1074G>C (p.Leu358=)
c.1092G>C (p.Leu364=)
c.849G>C (p.Leu283=)
c.882G>C (p.Leu294=)
c.900G>C (p.Leu300=)
2g.127428466G>TCA428618913PROCc.906G>T (p.Leu302=)
c.230G>T
c.1008G>T (p.Leu336=)
c.1089G>T (p.Leu363=)
c.1071G>T (p.Leu357=)
c.969G>T (p.Leu323=)
n.1332-202C>A
c.1149G>T (p.Leu383=)
c.1251G>T (p.Leu417=)
c.1191G>T (p.Leu397=)
n.3607-202C>A
n.4043-202C>A
c.1074G>T (p.Leu358=)
c.1092G>T (p.Leu364=)
c.849G>T (p.Leu283=)
c.882G>T (p.Leu294=)
c.900G>T (p.Leu300=)
2g.127428467C>ACA348404763PROCc.907C>A (p.Leu303Met)
c.231C>A
c.1009C>A (p.Leu337Met)
c.1090C>A (p.Leu364Met)
c.1072C>A (p.Leu358Met)
c.970C>A (p.Leu324Met)
n.1332-203G>T
c.1150C>A (p.Leu384Met)
c.1252C>A (p.Leu418Met)
c.1192C>A (p.Leu398Met)
n.3607-203G>T
n.4043-203G>T
c.1075C>A (p.Leu359Met)
c.1093C>A (p.Leu365Met)
c.850C>A (p.Leu284Met)
c.883C>A (p.Leu295Met)
c.901C>A (p.Leu301Met)
2g.127428467C>GCA348404766PROCc.907C>G (p.Leu303Val)
c.231C>G
c.1009C>G (p.Leu337Val)
c.1090C>G (p.Leu364Val)
c.1072C>G (p.Leu358Val)
c.970C>G (p.Leu324Val)
n.1332-203G>C
c.1150C>G (p.Leu384Val)
c.1252C>G (p.Leu418Val)
c.1192C>G (p.Leu398Val)
n.3607-203G>C
n.4043-203G>C
c.1075C>G (p.Leu359Val)
c.1093C>G (p.Leu365Val)
c.850C>G (p.Leu284Val)
c.883C>G (p.Leu295Val)
c.901C>G (p.Leu301Val)
2g.127428467C>TCA428618914PROCc.907C>T (p.Leu303=)
c.231C>T
c.1009C>T (p.Leu337=)
c.1090C>T (p.Leu364=)
c.1072C>T (p.Leu358=)
c.970C>T (p.Leu324=)
n.1332-203G>A
c.1150C>T (p.Leu384=)
c.1252C>T (p.Leu418=)
c.1192C>T (p.Leu398=)
n.3607-203G>A
n.4043-203G>A
c.1075C>T (p.Leu359=)
c.1093C>T (p.Leu365=)
c.850C>T (p.Leu284=)
c.883C>T (p.Leu295=)
c.901C>T (p.Leu301=)
2g.127428467_127428468delCA2580063829PROCc.907_908del (p.Leu303AlafsTer?)
c.231_232del
c.1009_1010del (p.Leu337AlafsTer?)
c.1090_1091del (p.Leu364AlafsTer?)
c.1072_1073del (p.Leu358AlafsTer?)
c.970_971del (p.Leu324AlafsTer?)
n.1332-204_1332-203del
c.1150_1151del (p.Leu384AlafsTer?)
c.1252_1253del (p.Leu418AlafsTer?)
c.1192_1193del (p.Leu398AlafsTer?)
n.3607-204_3607-203del
n.4043-204_4043-203del
c.1075_1076del (p.Leu359AlafsTer?)
c.1093_1094del (p.Leu365AlafsTer?)
c.850_851del (p.Leu284AlafsTer?)
c.883_884del (p.Leu295AlafsTer?)
c.901_902del (p.Leu301AlafsTer?)
 ClinVar gnomAD v4
2g.127428468T>ACA348404768PROCc.908T>A (p.Leu303Gln)
c.232T>A
c.1010T>A (p.Leu337Gln)
c.1091T>A (p.Leu364Gln)
c.1073T>A (p.Leu358Gln)
c.971T>A (p.Leu324Gln)
n.1332-204A>T
c.1151T>A (p.Leu384Gln)
c.1253T>A (p.Leu418Gln)
c.1193T>A (p.Leu398Gln)
n.3607-204A>T
n.4043-204A>T
c.1076T>A (p.Leu359Gln)
c.1094T>A (p.Leu365Gln)
c.851T>A (p.Leu284Gln)
c.884T>A (p.Leu295Gln)
c.902T>A (p.Leu301Gln)
2g.127428468T>CCA348404771PROCc.908T>C (p.Leu303Pro)
c.232T>C
c.1010T>C (p.Leu337Pro)
c.1091T>C (p.Leu364Pro)
c.1073T>C (p.Leu358Pro)
c.971T>C (p.Leu324Pro)
n.1332-204A>G
c.1151T>C (p.Leu384Pro)
c.1253T>C (p.Leu418Pro)
c.1193T>C (p.Leu398Pro)
n.3607-204A>G
n.4043-204A>G
c.1076T>C (p.Leu359Pro)
c.1094T>C (p.Leu365Pro)
c.851T>C (p.Leu284Pro)
c.884T>C (p.Leu295Pro)
c.902T>C (p.Leu301Pro)
 gnomAD v4
2g.127428468T>GCA348404774PROCc.908T>G (p.Leu303Arg)
c.232T>G
c.1010T>G (p.Leu337Arg)
c.1091T>G (p.Leu364Arg)
c.1073T>G (p.Leu358Arg)
c.971T>G (p.Leu324Arg)
n.1332-204A>C
c.1151T>G (p.Leu384Arg)
c.1253T>G (p.Leu418Arg)
c.1193T>G (p.Leu398Arg)
n.3607-204A>C
n.4043-204A>C
c.1076T>G (p.Leu359Arg)
c.1094T>G (p.Leu365Arg)
c.851T>G (p.Leu284Arg)
c.884T>G (p.Leu295Arg)
c.902T>G (p.Leu301Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.127428468T=CA1286884486PROCc.908T= (p.Leu303=)
c.232T=
c.1010T= (p.Leu337=)
c.1091T= (p.Leu364=)
c.1073T= (p.Leu358=)
c.971T= (p.Leu324=)
n.1332-204A=
c.1151T= (p.Leu384=)
c.1253T= (p.Leu418=)
c.1193T= (p.Leu398=)
n.3607-204A=
n.4043-204A=
c.1076T= (p.Leu359=)
c.1094T= (p.Leu365=)
c.851T= (p.Leu284=)
c.884T= (p.Leu295=)
c.902T= (p.Leu301=)
2g.127428469G>ACA428618915PROCc.909G>A (p.Leu303=)
c.233G>A
c.1011G>A (p.Leu337=)
c.1092G>A (p.Leu364=)
c.1074G>A (p.Leu358=)
c.972G>A (p.Leu324=)
n.1332-205C>T
c.1152G>A (p.Leu384=)
c.1254G>A (p.Leu418=)
c.1194G>A (p.Leu398=)
n.3607-205C>T
n.4043-205C>T
c.1077G>A (p.Leu359=)
c.1095G>A (p.Leu365=)
c.852G>A (p.Leu284=)
c.885G>A (p.Leu295=)
c.903G>A (p.Leu301=)
2g.127428469G>CCA428618916PROCc.909G>C (p.Leu303=)
c.233G>C
c.1011G>C (p.Leu337=)
c.1092G>C (p.Leu364=)
c.1074G>C (p.Leu358=)
c.972G>C (p.Leu324=)
n.1332-205C>G
c.1152G>C (p.Leu384=)
c.1254G>C (p.Leu418=)
c.1194G>C (p.Leu398=)
n.3607-205C>G
n.4043-205C>G
c.1077G>C (p.Leu359=)
c.1095G>C (p.Leu365=)
c.852G>C (p.Leu284=)
c.885G>C (p.Leu295=)
c.903G>C (p.Leu301=)
2g.127428469G>TCA428618917PROCc.909G>T (p.Leu303=)
c.233G>T
c.1011G>T (p.Leu337=)
c.1092G>T (p.Leu364=)
c.1074G>T (p.Leu358=)
c.972G>T (p.Leu324=)
n.1332-205C>A
c.1152G>T (p.Leu384=)
c.1254G>T (p.Leu418=)
c.1194G>T (p.Leu398=)
n.3607-205C>A
n.4043-205C>A
c.1077G>T (p.Leu359=)
c.1095G>T (p.Leu365=)
c.852G>T (p.Leu284=)
c.885G>T (p.Leu295=)
c.903G>T (p.Leu301=)
 gnomAD v4
2g.127428469_127428470delinsGCCA1286884487PROCc.909_910delinsGC (p.Leu303=)
c.233_234delinsGC
c.1011_1012delinsGC (p.Leu337=)
c.1092_1093delinsGC (p.Leu364=)
c.1074_1075delinsGC (p.Leu358=)
c.972_973delinsGC (p.Leu324=)
n.1332-206_1332-205delinsGC
c.1152_1153delinsGC (p.Leu384=)
c.1254_1255delinsGC (p.Leu418=)
c.1194_1195delinsGC (p.Leu398=)
n.3607-206_3607-205delinsGC
n.4043-206_4043-205delinsGC
c.1077_1078delinsGC (p.Leu359=)
c.1095_1096delinsGC (p.Leu365=)
c.852_853delinsGC (p.Leu284=)
c.885_886delinsGC (p.Leu295=)
c.903_904delinsGC (p.Leu301=)
2g.127428470delCA535640693PROCc.910del (p.His304ThrfsTer12)
c.234del
c.1012del (p.His338ThrfsTer12)
c.1093del (p.His365ThrfsTer12)
c.1075del (p.His359ThrfsTer12)
c.973del (p.His325ThrfsTer12)
n.1332-206del
c.1153del (p.His385ThrfsTer12)
c.1255del (p.His419ThrfsTer12)
c.1195del (p.His399ThrfsTer12)
n.3607-206del
n.4043-206del
c.1078del (p.His360ThrfsTer12)
c.1096del (p.His366ThrfsTer12)
c.853del (p.His285ThrfsTer12)
c.886del (p.His296ThrfsTer12)
c.904del (p.His302ThrfsTer12)
 dbSNP gnomAD v2 gnomAD v4
2g.127428470C>ACA348404777PROCc.910C>A (p.His304Asn)
c.234C>A
c.1012C>A (p.His338Asn)
c.1093C>A (p.His365Asn)
c.1075C>A (p.His359Asn)
c.973C>A (p.His325Asn)
n.1332-206G>T
c.1153C>A (p.His385Asn)
c.1255C>A (p.His419Asn)
c.1195C>A (p.His399Asn)
n.3607-206G>T
n.4043-206G>T
c.1078C>A (p.His360Asn)
c.1096C>A (p.His366Asn)
c.853C>A (p.His285Asn)
c.886C>A (p.His296Asn)
c.904C>A (p.His302Asn)
2g.127428470C=CA1286884488PROCc.910C= (p.His304=)
c.234C=
c.1012C= (p.His338=)
c.1093C= (p.His365=)
c.1075C= (p.His359=)
c.973C= (p.His325=)
n.1332-206G=
c.1153C= (p.His385=)
c.1255C= (p.His419=)
c.1195C= (p.His399=)
n.3607-206G=
n.4043-206G=
c.1078C= (p.His360=)
c.1096C= (p.His366=)
c.853C= (p.His285=)
c.886C= (p.His296=)
c.904C= (p.His302=)
2g.127428470C>GCA348404783PROCc.910C>G (p.His304Asp)
c.234C>G
c.1012C>G (p.His338Asp)
c.1093C>G (p.His365Asp)
c.1075C>G (p.His359Asp)
c.973C>G (p.His325Asp)
n.1332-206G>C
c.1153C>G (p.His385Asp)
c.1255C>G (p.His419Asp)
c.1195C>G (p.His399Asp)
n.3607-206G>C
n.4043-206G>C
c.1078C>G (p.His360Asp)
c.1096C>G (p.His366Asp)
c.853C>G (p.His285Asp)
c.886C>G (p.His296Asp)
c.904C>G (p.His302Asp)
2g.127428470C>TCA1859486PROCc.910C>T (p.His304Tyr)
c.234C>T
c.1012C>T (p.His338Tyr)
c.1093C>T (p.His365Tyr)
c.1075C>T (p.His359Tyr)
c.973C>T (p.His325Tyr)
n.1332-206G>A
c.1153C>T (p.His385Tyr)
c.1255C>T (p.His419Tyr)
c.1195C>T (p.His399Tyr)
n.3607-206G>A
n.4043-206G>A
c.1078C>T (p.His360Tyr)
c.1096C>T (p.His366Tyr)
c.853C>T (p.His285Tyr)
c.886C>T (p.His296Tyr)
c.904C>T (p.His302Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428471A=CA1286884489PROCc.911A= (p.His304=)
c.235A=
c.1013A= (p.His338=)
c.1094A= (p.His365=)
c.1076A= (p.His359=)
c.974A= (p.His325=)
n.1332-207T=
c.1154A= (p.His385=)
c.1256A= (p.His419=)
c.1196A= (p.His399=)
n.3607-207T=
n.4043-207T=
c.1079A= (p.His360=)
c.1097A= (p.His366=)
c.854A= (p.His285=)
c.887A= (p.His296=)
c.905A= (p.His302=)
2g.127428471A>CCA348404789PROCc.911A>C (p.His304Pro)
c.235A>C
c.1013A>C (p.His338Pro)
c.1094A>C (p.His365Pro)
c.1076A>C (p.His359Pro)
c.974A>C (p.His325Pro)
n.1332-207T>G
c.1154A>C (p.His385Pro)
c.1256A>C (p.His419Pro)
c.1196A>C (p.His399Pro)
n.3607-207T>G
n.4043-207T>G
c.1079A>C (p.His360Pro)
c.1097A>C (p.His366Pro)
c.854A>C (p.His285Pro)
c.887A>C (p.His296Pro)
c.905A>C (p.His302Pro)
 dbSNP
2g.127428471A>GCA348404792PROCc.911A>G (p.His304Arg)
c.235A>G
c.1013A>G (p.His338Arg)
c.1094A>G (p.His365Arg)
c.1076A>G (p.His359Arg)
c.974A>G (p.His325Arg)
n.1332-207T>C
c.1154A>G (p.His385Arg)
c.1256A>G (p.His419Arg)
c.1196A>G (p.His399Arg)
n.3607-207T>C
n.4043-207T>C
c.1079A>G (p.His360Arg)
c.1097A>G (p.His366Arg)
c.854A>G (p.His285Arg)
c.887A>G (p.His296Arg)
c.905A>G (p.His302Arg)
2g.127428471A>TCA348404794PROCc.911A>T (p.His304Leu)
c.235A>T
c.1013A>T (p.His338Leu)
c.1094A>T (p.His365Leu)
c.1076A>T (p.His359Leu)
c.974A>T (p.His325Leu)
n.1332-207T>A
c.1154A>T (p.His385Leu)
c.1256A>T (p.His419Leu)
c.1196A>T (p.His399Leu)
n.3607-207T>A
n.4043-207T>A
c.1079A>T (p.His360Leu)
c.1097A>T (p.His366Leu)
c.854A>T (p.His285Leu)
c.887A>T (p.His296Leu)
c.905A>T (p.His302Leu)
2g.127428472C>ACA348404797PROCc.912C>A (p.His304Gln)
c.236C>A
c.1014C>A (p.His338Gln)
c.1095C>A (p.His365Gln)
c.1077C>A (p.His359Gln)
c.975C>A (p.His325Gln)
n.1332-208G>T
c.1155C>A (p.His385Gln)
c.1257C>A (p.His419Gln)
c.1197C>A (p.His399Gln)
n.3607-208G>T
n.4043-208G>T
c.1080C>A (p.His360Gln)
c.1098C>A (p.His366Gln)
c.855C>A (p.His285Gln)
c.888C>A (p.His296Gln)
c.906C>A (p.His302Gln)
2g.127428472C>GCA348404800PROCc.912C>G (p.His304Gln)
c.236C>G
c.1014C>G (p.His338Gln)
c.1095C>G (p.His365Gln)
c.1077C>G (p.His359Gln)
c.975C>G (p.His325Gln)
n.1332-208G>C
c.1155C>G (p.His385Gln)
c.1257C>G (p.His419Gln)
c.1197C>G (p.His399Gln)
n.3607-208G>C
n.4043-208G>C
c.1080C>G (p.His360Gln)
c.1098C>G (p.His366Gln)
c.855C>G (p.His285Gln)
c.888C>G (p.His296Gln)
c.906C>G (p.His302Gln)
2g.127428472C>TCA428618918PROCc.912C>T (p.His304=)
c.236C>T
c.1014C>T (p.His338=)
c.1095C>T (p.His365=)
c.1077C>T (p.His359=)
c.975C>T (p.His325=)
n.1332-208G>A
c.1155C>T (p.His385=)
c.1257C>T (p.His419=)
c.1197C>T (p.His399=)
n.3607-208G>A
n.4043-208G>A
c.1080C>T (p.His360=)
c.1098C>T (p.His366=)
c.855C>T (p.His285=)
c.888C>T (p.His296=)
c.906C>T (p.His302=)
2g.127428473C>ACA348404803PROCc.913C>A (p.Leu305Met)
c.237C>A
c.1015C>A (p.Leu339Met)
c.1096C>A (p.Leu366Met)
c.1078C>A (p.Leu360Met)
c.976C>A (p.Leu326Met)
n.1332-209G>T
c.1156C>A (p.Leu386Met)
c.1258C>A (p.Leu420Met)
c.1198C>A (p.Leu400Met)
n.3607-209G>T
n.4043-209G>T
c.1081C>A (p.Leu361Met)
c.1099C>A (p.Leu367Met)
c.856C>A (p.Leu286Met)
c.889C>A (p.Leu297Met)
c.907C>A (p.Leu303Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428473C=CA1286884491PROCc.913C= (p.Leu305=)
c.237C=
c.1015C= (p.Leu339=)
c.1096C= (p.Leu366=)
c.1078C= (p.Leu360=)
c.976C= (p.Leu326=)
n.1332-209G=
c.1156C= (p.Leu386=)
c.1258C= (p.Leu420=)
c.1198C= (p.Leu400=)
n.3607-209G=
n.4043-209G=
c.1081C= (p.Leu361=)
c.1099C= (p.Leu367=)
c.856C= (p.Leu286=)
c.889C= (p.Leu297=)
c.907C= (p.Leu303=)
2g.127428473C>GCA348404806PROCc.913C>G (p.Leu305Val)
c.237C>G
c.1015C>G (p.Leu339Val)
c.1096C>G (p.Leu366Val)
c.1078C>G (p.Leu360Val)
c.976C>G (p.Leu326Val)
n.1332-209G>C
c.1156C>G (p.Leu386Val)
c.1258C>G (p.Leu420Val)
c.1198C>G (p.Leu400Val)
n.3607-209G>C
n.4043-209G>C
c.1081C>G (p.Leu361Val)
c.1099C>G (p.Leu367Val)
c.856C>G (p.Leu286Val)
c.889C>G (p.Leu297Val)
c.907C>G (p.Leu303Val)
2g.127428473C>TCA428618919PROCc.913C>T (p.Leu305=)
c.237C>T
c.1015C>T (p.Leu339=)
c.1096C>T (p.Leu366=)
c.1078C>T (p.Leu360=)
c.976C>T (p.Leu326=)
n.1332-209G>A
c.1156C>T (p.Leu386=)
c.1258C>T (p.Leu420=)
c.1198C>T (p.Leu400=)
n.3607-209G>A
n.4043-209G>A
c.1081C>T (p.Leu361=)
c.1099C>T (p.Leu367=)
c.856C>T (p.Leu286=)
c.889C>T (p.Leu297=)
c.907C>T (p.Leu303=)
 gnomAD v4
2g.127428473_127428474delinsCTCA1286884490PROCc.913_914delinsCT (p.Leu305=)
c.237_238delinsCT
c.1015_1016delinsCT (p.Leu339=)
c.1096_1097delinsCT (p.Leu366=)
c.1078_1079delinsCT (p.Leu360=)
c.976_977delinsCT (p.Leu326=)
n.1332-210_1332-209delinsAG
c.1156_1157delinsCT (p.Leu386=)
c.1258_1259delinsCT (p.Leu420=)
c.1198_1199delinsCT (p.Leu400=)
n.3607-210_3607-209delinsAG
n.4043-210_4043-209delinsAG
c.1081_1082delinsCT (p.Leu361=)
c.1099_1100delinsCT (p.Leu367=)
c.856_857delinsCT (p.Leu286=)
c.889_890delinsCT (p.Leu297=)
c.907_908delinsCT (p.Leu303=)
2g.127428474_127428477dupCA2586969910PROCc.914_917dup (p.Gln307GlyfsTer?)
c.238_241dup
c.1016_1019dup (p.Gln341GlyfsTer?)
c.1097_1100dup (p.Gln368GlyfsTer?)
c.1079_1082dup (p.Gln362GlyfsTer?)
c.977_980dup (p.Gln328GlyfsTer?)
n.1332-212_1332-209dup
c.1157_1160dup (p.Gln388GlyfsTer?)
c.1259_1262dup (p.Gln422GlyfsTer?)
c.1199_1202dup (p.Gln402GlyfsTer?)
n.3607-212_3607-209dup
n.4043-212_4043-209dup
c.1082_1085dup (p.Gln363GlyfsTer?)
c.1100_1103dup (p.Gln369GlyfsTer?)
c.857_860dup (p.Gln288GlyfsTer?)
c.890_893dup (p.Gln299GlyfsTer?)
c.908_911dup (p.Gln305GlyfsTer?)
2g.127428474delCA55350734PROCc.914del (p.Leu305ArgfsTer11)
c.238del
c.1016del (p.Leu339ArgfsTer11)
c.1097del (p.Leu366ArgfsTer11)
c.1079del (p.Leu360ArgfsTer11)
c.977del (p.Leu326ArgfsTer11)
n.1332-210del
c.1157del (p.Leu386ArgfsTer11)
c.1259del (p.Leu420ArgfsTer11)
c.1199del (p.Leu400ArgfsTer11)
n.3607-210del
n.4043-210del
c.1082del (p.Leu361ArgfsTer11)
c.1100del (p.Leu367ArgfsTer11)
c.857del (p.Leu286ArgfsTer11)
c.890del (p.Leu297ArgfsTer11)
c.908del (p.Leu303ArgfsTer11)
 dbSNP
2g.127428474T>ACA348404816PROCc.914T>A (p.Leu305Gln)
c.238T>A
c.1016T>A (p.Leu339Gln)
c.1097T>A (p.Leu366Gln)
c.1079T>A (p.Leu360Gln)
c.977T>A (p.Leu326Gln)
n.1332-210A>T
c.1157T>A (p.Leu386Gln)
c.1259T>A (p.Leu420Gln)
c.1199T>A (p.Leu400Gln)
n.3607-210A>T
n.4043-210A>T
c.1082T>A (p.Leu361Gln)
c.1100T>A (p.Leu367Gln)
c.857T>A (p.Leu286Gln)
c.890T>A (p.Leu297Gln)
c.908T>A (p.Leu303Gln)
2g.127428474T>CCA348404810PROCc.914T>C (p.Leu305Pro)
c.238T>C
c.1016T>C (p.Leu339Pro)
c.1097T>C (p.Leu366Pro)
c.1079T>C (p.Leu360Pro)
c.977T>C (p.Leu326Pro)
n.1332-210A>G
c.1157T>C (p.Leu386Pro)
c.1259T>C (p.Leu420Pro)
c.1199T>C (p.Leu400Pro)
n.3607-210A>G
n.4043-210A>G
c.1082T>C (p.Leu361Pro)
c.1100T>C (p.Leu367Pro)
c.857T>C (p.Leu286Pro)
c.890T>C (p.Leu297Pro)
c.908T>C (p.Leu303Pro)
2g.127428474T>GCA348404813PROCc.914T>G (p.Leu305Arg)
c.238T>G
c.1016T>G (p.Leu339Arg)
c.1097T>G (p.Leu366Arg)
c.1079T>G (p.Leu360Arg)
c.977T>G (p.Leu326Arg)
n.1332-210A>C
c.1157T>G (p.Leu386Arg)
c.1259T>G (p.Leu420Arg)
c.1199T>G (p.Leu400Arg)
n.3607-210A>C
n.4043-210A>C
c.1082T>G (p.Leu361Arg)
c.1100T>G (p.Leu367Arg)
c.857T>G (p.Leu286Arg)
c.890T>G (p.Leu297Arg)
c.908T>G (p.Leu303Arg)
 dbSNP
2g.127428474T=CA1286884492PROCc.914T= (p.Leu305=)
c.238T=
c.1016T= (p.Leu339=)
c.1097T= (p.Leu366=)
c.1079T= (p.Leu360=)
c.977T= (p.Leu326=)
n.1332-210A=
c.1157T= (p.Leu386=)
c.1259T= (p.Leu420=)
c.1199T= (p.Leu400=)
n.3607-210A=
n.4043-210A=
c.1082T= (p.Leu361=)
c.1100T= (p.Leu367=)
c.857T= (p.Leu286=)
c.890T= (p.Leu297=)
c.908T= (p.Leu303=)
2g.127428474_127428476dupCA2586969911PROCc.914_916dup (p.Leu305_Ala306insVal)
c.238_240dup
c.1016_1018dup (p.Leu339_Ala340insVal)
c.1097_1099dup (p.Leu366_Ala367insVal)
c.1079_1081dup (p.Leu360_Ala361insVal)
c.977_979dup (p.Leu326_Ala327insVal)
n.1332-212_1332-210dup
c.1157_1159dup (p.Leu386_Ala387insVal)
c.1259_1261dup (p.Leu420_Ala421insVal)
c.1199_1201dup (p.Leu400_Ala401insVal)
n.3607-212_3607-210dup
n.4043-212_4043-210dup
c.1082_1084dup (p.Leu361_Ala362insVal)
c.1100_1102dup (p.Leu367_Ala368insVal)
c.857_859dup (p.Leu286_Ala287insVal)
c.890_892dup (p.Leu297_Ala298insVal)
c.908_910dup (p.Leu303_Ala304insVal)
2g.127428475G>ACA428618920PROCc.915G>A (p.Leu305=)
c.239G>A
c.1017G>A (p.Leu339=)
c.1098G>A (p.Leu366=)
c.1080G>A (p.Leu360=)
c.978G>A (p.Leu326=)
n.1332-211C>T
c.1158G>A (p.Leu386=)
c.1260G>A (p.Leu420=)
c.1200G>A (p.Leu400=)
n.3607-211C>T
n.4043-211C>T
c.1083G>A (p.Leu361=)
c.1101G>A (p.Leu367=)
c.858G>A (p.Leu286=)
c.891G>A (p.Leu297=)
c.909G>A (p.Leu303=)
 gnomAD v4
2g.127428475G>CCA428618921PROCc.915G>C (p.Leu305=)
c.239G>C
c.1017G>C (p.Leu339=)
c.1098G>C (p.Leu366=)
c.1080G>C (p.Leu360=)
c.978G>C (p.Leu326=)
n.1332-211C>G
c.1158G>C (p.Leu386=)
c.1260G>C (p.Leu420=)
c.1200G>C (p.Leu400=)
n.3607-211C>G
n.4043-211C>G
c.1083G>C (p.Leu361=)
c.1101G>C (p.Leu367=)
c.858G>C (p.Leu286=)
c.891G>C (p.Leu297=)
c.909G>C (p.Leu303=)
2g.127428475G>TCA428618922PROCc.915G>T (p.Leu305=)
c.239G>T
c.1017G>T (p.Leu339=)
c.1098G>T (p.Leu366=)
c.1080G>T (p.Leu360=)
c.978G>T (p.Leu326=)
n.1332-211C>A
c.1158G>T (p.Leu386=)
c.1260G>T (p.Leu420=)
c.1200G>T (p.Leu400=)
n.3607-211C>A
n.4043-211C>A
c.1083G>T (p.Leu361=)
c.1101G>T (p.Leu367=)
c.858G>T (p.Leu286=)
c.891G>T (p.Leu297=)
c.909G>T (p.Leu303=)
2g.127428476G>ACA348404819PROCc.916G>A (p.Ala306Thr)
c.240G>A
c.1018G>A (p.Ala340Thr)
c.1099G>A (p.Ala367Thr)
c.1081G>A (p.Ala361Thr)
c.979G>A (p.Ala327Thr)
n.1332-212C>T
c.1159G>A (p.Ala387Thr)
c.1261G>A (p.Ala421Thr)
c.1201G>A (p.Ala401Thr)
n.3607-212C>T
n.4043-212C>T
c.1084G>A (p.Ala362Thr)
c.1102G>A (p.Ala368Thr)
c.859G>A (p.Ala287Thr)
c.892G>A (p.Ala298Thr)
c.910G>A (p.Ala304Thr)
2g.127428476G>CCA348404822PROCc.916G>C (p.Ala306Pro)
c.240G>C
c.1018G>C (p.Ala340Pro)
c.1099G>C (p.Ala367Pro)
c.1081G>C (p.Ala361Pro)
c.979G>C (p.Ala327Pro)
n.1332-212C>G
c.1159G>C (p.Ala387Pro)
c.1261G>C (p.Ala421Pro)
c.1201G>C (p.Ala401Pro)
n.3607-212C>G
n.4043-212C>G
c.1084G>C (p.Ala362Pro)
c.1102G>C (p.Ala368Pro)
c.859G>C (p.Ala287Pro)
c.892G>C (p.Ala298Pro)
c.910G>C (p.Ala304Pro)
2g.127428476G=CA1286884493PROCc.916G= (p.Ala306=)
c.240G=
c.1018G= (p.Ala340=)
c.1099G= (p.Ala367=)
c.1081G= (p.Ala361=)
c.979G= (p.Ala327=)
n.1332-212C=
c.1159G= (p.Ala387=)
c.1261G= (p.Ala421=)
c.1201G= (p.Ala401=)
n.3607-212C=
n.4043-212C=
c.1084G= (p.Ala362=)
c.1102G= (p.Ala368=)
c.859G= (p.Ala287=)
c.892G= (p.Ala298=)
c.910G= (p.Ala304=)
2g.127428476G>TCA348404824PROCc.916G>T (p.Ala306Ser)
c.240G>T
c.1018G>T (p.Ala340Ser)
c.1099G>T (p.Ala367Ser)
c.1081G>T (p.Ala361Ser)
c.979G>T (p.Ala327Ser)
n.1332-212C>A
c.1159G>T (p.Ala387Ser)
c.1261G>T (p.Ala421Ser)
c.1201G>T (p.Ala401Ser)
n.3607-212C>A
n.4043-212C>A
c.1084G>T (p.Ala362Ser)
c.1102G>T (p.Ala368Ser)
c.859G>T (p.Ala287Ser)
c.892G>T (p.Ala298Ser)
c.910G>T (p.Ala304Ser)
 ClinVar dbSNP
2g.127428477C>ACA348404827PROCc.917C>A (p.Ala306Asp)
c.241C>A
c.1019C>A (p.Ala340Asp)
c.1100C>A (p.Ala367Asp)
c.1082C>A (p.Ala361Asp)
c.980C>A (p.Ala327Asp)
n.1332-213G>T
c.1160C>A (p.Ala387Asp)
c.1262C>A (p.Ala421Asp)
c.1202C>A (p.Ala401Asp)
n.3607-213G>T
n.4043-213G>T
c.1085C>A (p.Ala362Asp)
c.1103C>A (p.Ala368Asp)
c.860C>A (p.Ala287Asp)
c.893C>A (p.Ala298Asp)
c.911C>A (p.Ala304Asp)
2g.127428477C>GCA348404829PROCc.917C>G (p.Ala306Gly)
c.241C>G
c.1019C>G (p.Ala340Gly)
c.1100C>G (p.Ala367Gly)
c.1082C>G (p.Ala361Gly)
c.980C>G (p.Ala327Gly)
n.1332-213G>C
c.1160C>G (p.Ala387Gly)
c.1262C>G (p.Ala421Gly)
c.1202C>G (p.Ala401Gly)
n.3607-213G>C
n.4043-213G>C
c.1085C>G (p.Ala362Gly)
c.1103C>G (p.Ala368Gly)
c.860C>G (p.Ala287Gly)
c.893C>G (p.Ala298Gly)
c.911C>G (p.Ala304Gly)
2g.127428477C>TCA348404832PROCc.917C>T (p.Ala306Val)
c.241C>T
c.1019C>T (p.Ala340Val)
c.1100C>T (p.Ala367Val)
c.1082C>T (p.Ala361Val)
c.980C>T (p.Ala327Val)
n.1332-213G>A
c.1160C>T (p.Ala387Val)
c.1262C>T (p.Ala421Val)
c.1202C>T (p.Ala401Val)
n.3607-213G>A
n.4043-213G>A
c.1085C>T (p.Ala362Val)
c.1103C>T (p.Ala368Val)
c.860C>T (p.Ala287Val)
c.893C>T (p.Ala298Val)
c.911C>T (p.Ala304Val)
2g.127428478C>ACA428618923PROCc.918C>A (p.Ala306=)
c.242C>A
c.1020C>A (p.Ala340=)
c.1101C>A (p.Ala367=)
c.1083C>A (p.Ala361=)
c.981C>A (p.Ala327=)
n.1332-214G>T
c.1161C>A (p.Ala387=)
c.1263C>A (p.Ala421=)
c.1203C>A (p.Ala401=)
n.3607-214G>T
n.4043-214G>T
c.1086C>A (p.Ala362=)
c.1104C>A (p.Ala368=)
c.861C>A (p.Ala287=)
c.894C>A (p.Ala298=)
c.912C>A (p.Ala304=)
2g.127428478C>GCA428618924PROCc.918C>G (p.Ala306=)
c.242C>G
c.1020C>G (p.Ala340=)
c.1101C>G (p.Ala367=)
c.1083C>G (p.Ala361=)
c.981C>G (p.Ala327=)
n.1332-214G>C
c.1161C>G (p.Ala387=)
c.1263C>G (p.Ala421=)
c.1203C>G (p.Ala401=)
n.3607-214G>C
n.4043-214G>C
c.1086C>G (p.Ala362=)
c.1104C>G (p.Ala368=)
c.861C>G (p.Ala287=)
c.894C>G (p.Ala298=)
c.912C>G (p.Ala304=)
2g.127428478C>TCA428618925PROCc.918C>T (p.Ala306=)
c.242C>T
c.1020C>T (p.Ala340=)
c.1101C>T (p.Ala367=)
c.1083C>T (p.Ala361=)
c.981C>T (p.Ala327=)
n.1332-214G>A
c.1161C>T (p.Ala387=)
c.1263C>T (p.Ala421=)
c.1203C>T (p.Ala401=)
n.3607-214G>A
n.4043-214G>A
c.1086C>T (p.Ala362=)
c.1104C>T (p.Ala368=)
c.861C>T (p.Ala287=)
c.894C>T (p.Ala298=)
c.912C>T (p.Ala304=)
 dbSNP
2g.127428479C>ACA348404835PROCc.919C>A (p.Gln307Lys)
c.243C>A
c.1021C>A (p.Gln341Lys)
c.1102C>A (p.Gln368Lys)
c.1084C>A (p.Gln362Lys)
c.982C>A (p.Gln328Lys)
n.1332-215G>T
c.1162C>A (p.Gln388Lys)
c.1264C>A (p.Gln422Lys)
c.1204C>A (p.Gln402Lys)
n.3607-215G>T
n.4043-215G>T
c.1087C>A (p.Gln363Lys)
c.1105C>A (p.Gln369Lys)
c.862C>A (p.Gln288Lys)
c.895C>A (p.Gln299Lys)
c.913C>A (p.Gln305Lys)
2g.127428479C>GCA348404838PROCc.919C>G (p.Gln307Glu)
c.243C>G
c.1021C>G (p.Gln341Glu)
c.1102C>G (p.Gln368Glu)
c.1084C>G (p.Gln362Glu)
c.982C>G (p.Gln328Glu)
n.1332-215G>C
c.1162C>G (p.Gln388Glu)
c.1264C>G (p.Gln422Glu)
c.1204C>G (p.Gln402Glu)
n.3607-215G>C
n.4043-215G>C
c.1087C>G (p.Gln363Glu)
c.1105C>G (p.Gln369Glu)
c.862C>G (p.Gln288Glu)
c.895C>G (p.Gln299Glu)
c.913C>G (p.Gln305Glu)
2g.127428479C>TCA348404841PROCc.919C>T (p.Gln307Ter)
c.243C>T
c.1021C>T (p.Gln341Ter)
c.1102C>T (p.Gln368Ter)
c.1084C>T (p.Gln362Ter)
c.982C>T (p.Gln328Ter)
n.1332-215G>A
c.1162C>T (p.Gln388Ter)
c.1264C>T (p.Gln422Ter)
c.1204C>T (p.Gln402Ter)
n.3607-215G>A
n.4043-215G>A
c.1087C>T (p.Gln363Ter)
c.1105C>T (p.Gln369Ter)
c.862C>T (p.Gln288Ter)
c.895C>T (p.Gln299Ter)
c.913C>T (p.Gln305Ter)
2g.127428480delCA2660997777PROCc.920del (p.Gln307ArgfsTer9)
c.244del
c.1022del (p.Gln341ArgfsTer9)
c.1103del (p.Gln368ArgfsTer9)
c.1085del (p.Gln362ArgfsTer9)
c.983del (p.Gln328ArgfsTer9)
n.1332-216del
c.1163del (p.Gln388ArgfsTer9)
c.1265del (p.Gln422ArgfsTer9)
c.1205del (p.Gln402ArgfsTer9)
n.3607-216del
n.4043-216del
c.1088del (p.Gln363ArgfsTer9)
c.1106del (p.Gln369ArgfsTer9)
c.863del (p.Gln288ArgfsTer9)
c.896del (p.Gln299ArgfsTer9)
c.914del (p.Gln305ArgfsTer9)
 gnomAD v4
2g.127428480A>CCA348404845PROCc.920A>C (p.Gln307Pro)
c.244A>C
c.1022A>C (p.Gln341Pro)
c.1103A>C (p.Gln368Pro)
c.1085A>C (p.Gln362Pro)
c.983A>C (p.Gln328Pro)
n.1332-216T>G
c.1163A>C (p.Gln388Pro)
c.1265A>C (p.Gln422Pro)
c.1205A>C (p.Gln402Pro)
n.3607-216T>G
n.4043-216T>G
c.1088A>C (p.Gln363Pro)
c.1106A>C (p.Gln369Pro)
c.863A>C (p.Gln288Pro)
c.896A>C (p.Gln299Pro)
c.914A>C (p.Gln305Pro)
2g.127428480A>GCA348404847PROCc.920A>G (p.Gln307Arg)
c.244A>G
c.1022A>G (p.Gln341Arg)
c.1103A>G (p.Gln368Arg)
c.1085A>G (p.Gln362Arg)
c.983A>G (p.Gln328Arg)
n.1332-216T>C
c.1163A>G (p.Gln388Arg)
c.1265A>G (p.Gln422Arg)
c.1205A>G (p.Gln402Arg)
n.3607-216T>C
n.4043-216T>C
c.1088A>G (p.Gln363Arg)
c.1106A>G (p.Gln369Arg)
c.863A>G (p.Gln288Arg)
c.896A>G (p.Gln299Arg)
c.914A>G (p.Gln305Arg)
 gnomAD v4
2g.127428480A>TCA348404851PROCc.920A>T (p.Gln307Leu)
c.244A>T
c.1022A>T (p.Gln341Leu)
c.1103A>T (p.Gln368Leu)
c.1085A>T (p.Gln362Leu)
c.983A>T (p.Gln328Leu)
n.1332-216T>A
c.1163A>T (p.Gln388Leu)
c.1265A>T (p.Gln422Leu)
c.1205A>T (p.Gln402Leu)
n.3607-216T>A
n.4043-216T>A
c.1088A>T (p.Gln363Leu)
c.1106A>T (p.Gln369Leu)
c.863A>T (p.Gln288Leu)
c.896A>T (p.Gln299Leu)
c.914A>T (p.Gln305Leu)
2g.127428481G>ACA428618926PROCc.921G>A (p.Gln307=)
c.245G>A
c.1023G>A (p.Gln341=)
c.1104G>A (p.Gln368=)
c.1086G>A (p.Gln362=)
c.984G>A (p.Gln328=)
n.1332-217C>T
c.1164G>A (p.Gln388=)
c.1266G>A (p.Gln422=)
c.1206G>A (p.Gln402=)
n.3607-217C>T
n.4043-217C>T
c.1089G>A (p.Gln363=)
c.1107G>A (p.Gln369=)
c.864G>A (p.Gln288=)
c.897G>A (p.Gln299=)
c.915G>A (p.Gln305=)
2g.127428481G>CCA348404855PROCc.921G>C (p.Gln307His)
c.245G>C
c.1023G>C (p.Gln341His)
c.1104G>C (p.Gln368His)
c.1086G>C (p.Gln362His)
c.984G>C (p.Gln328His)
n.1332-217C>G
c.1164G>C (p.Gln388His)
c.1266G>C (p.Gln422His)
c.1206G>C (p.Gln402His)
n.3607-217C>G
n.4043-217C>G
c.1089G>C (p.Gln363His)
c.1107G>C (p.Gln369His)
c.864G>C (p.Gln288His)
c.897G>C (p.Gln299His)
c.915G>C (p.Gln305His)
2g.127428481G>TCA348404857PROCc.921G>T (p.Gln307His)
c.245G>T
c.1023G>T (p.Gln341His)
c.1104G>T (p.Gln368His)
c.1086G>T (p.Gln362His)
c.984G>T (p.Gln328His)
n.1332-217C>A
c.1164G>T (p.Gln388His)
c.1266G>T (p.Gln422His)
c.1206G>T (p.Gln402His)
n.3607-217C>A
n.4043-217C>A
c.1089G>T (p.Gln363His)
c.1107G>T (p.Gln369His)
c.864G>T (p.Gln288His)
c.897G>T (p.Gln299His)
c.915G>T (p.Gln305His)
2g.127428482C>ACA348404861PROCc.922C>A (p.Pro308Thr)
c.246C>A
c.1024C>A (p.Pro342Thr)
c.1105C>A (p.Pro369Thr)
c.1087C>A (p.Pro363Thr)
c.985C>A (p.Pro329Thr)
n.1332-218G>T
c.1165C>A (p.Pro389Thr)
c.1267C>A (p.Pro423Thr)
c.1207C>A (p.Pro403Thr)
n.3607-218G>T
n.4043-218G>T
c.1090C>A (p.Pro364Thr)
c.1108C>A (p.Pro370Thr)
c.865C>A (p.Pro289Thr)
c.898C>A (p.Pro300Thr)
c.916C>A (p.Pro306Thr)
 gnomAD v4
2g.127428482C=CA1286884494PROCc.922C= (p.Pro308=)
c.246C=
c.1024C= (p.Pro342=)
c.1105C= (p.Pro369=)
c.1087C= (p.Pro363=)
c.985C= (p.Pro329=)
n.1332-218G=
c.1165C= (p.Pro389=)
c.1267C= (p.Pro423=)
c.1207C= (p.Pro403=)
n.3607-218G=
n.4043-218G=
c.1090C= (p.Pro364=)
c.1108C= (p.Pro370=)
c.865C= (p.Pro289=)
c.898C= (p.Pro300=)
c.916C= (p.Pro306=)
2g.127428482C>GCA348404866PROCc.922C>G (p.Pro308Ala)
c.246C>G
c.1024C>G (p.Pro342Ala)
c.1105C>G (p.Pro369Ala)
c.1087C>G (p.Pro363Ala)
c.985C>G (p.Pro329Ala)
n.1332-218G>C
c.1165C>G (p.Pro389Ala)
c.1267C>G (p.Pro423Ala)
c.1207C>G (p.Pro403Ala)
n.3607-218G>C
n.4043-218G>C
c.1090C>G (p.Pro364Ala)
c.1108C>G (p.Pro370Ala)
c.865C>G (p.Pro289Ala)
c.898C>G (p.Pro300Ala)
c.916C>G (p.Pro306Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.127428482C>TCA348404863PROCc.922C>T (p.Pro308Ser)
c.246C>T
c.1024C>T (p.Pro342Ser)
c.1105C>T (p.Pro369Ser)
c.1087C>T (p.Pro363Ser)
c.985C>T (p.Pro329Ser)
n.1332-218G>A
c.1165C>T (p.Pro389Ser)
c.1267C>T (p.Pro423Ser)
c.1207C>T (p.Pro403Ser)
n.3607-218G>A
n.4043-218G>A
c.1090C>T (p.Pro364Ser)
c.1108C>T (p.Pro370Ser)
c.865C>T (p.Pro289Ser)
c.898C>T (p.Pro300Ser)
c.916C>T (p.Pro306Ser)
2g.127428483C>ACA348404869PROCc.923C>A (p.Pro308His)
c.247C>A
c.1025C>A (p.Pro342His)
c.1106C>A (p.Pro369His)
c.1088C>A (p.Pro363His)
c.986C>A (p.Pro329His)
n.1332-219G>T
c.1166C>A (p.Pro389His)
c.1268C>A (p.Pro423His)
c.1208C>A (p.Pro403His)
n.3607-219G>T
n.4043-219G>T
c.1091C>A (p.Pro364His)
c.1109C>A (p.Pro370His)
c.866C>A (p.Pro289His)
c.899C>A (p.Pro300His)
c.917C>A (p.Pro306His)
2g.127428483C>GCA348404875PROCc.923C>G (p.Pro308Arg)
c.247C>G
c.1025C>G (p.Pro342Arg)
c.1106C>G (p.Pro369Arg)
c.1088C>G (p.Pro363Arg)
c.986C>G (p.Pro329Arg)
n.1332-219G>C
c.1166C>G (p.Pro389Arg)
c.1268C>G (p.Pro423Arg)
c.1208C>G (p.Pro403Arg)
n.3607-219G>C
n.4043-219G>C
c.1091C>G (p.Pro364Arg)
c.1109C>G (p.Pro370Arg)
c.866C>G (p.Pro289Arg)
c.899C>G (p.Pro300Arg)
c.917C>G (p.Pro306Arg)
2g.127428483C>TCA348404871PROCc.923C>T (p.Pro308Leu)
c.247C>T
c.1025C>T (p.Pro342Leu)
c.1106C>T (p.Pro369Leu)
c.1088C>T (p.Pro363Leu)
c.986C>T (p.Pro329Leu)
n.1332-219G>A
c.1166C>T (p.Pro389Leu)
c.1268C>T (p.Pro423Leu)
c.1208C>T (p.Pro403Leu)
n.3607-219G>A
n.4043-219G>A
c.1091C>T (p.Pro364Leu)
c.1109C>T (p.Pro370Leu)
c.866C>T (p.Pro289Leu)
c.899C>T (p.Pro300Leu)
c.917C>T (p.Pro306Leu)
2g.127428484C>ACA428871465PROCc.924C>A (p.Pro308=)
c.248C>A
c.1026C>A (p.Pro342=)
c.1107C>A (p.Pro369=)
c.1089C>A (p.Pro363=)
c.987C>A (p.Pro329=)
n.1332-220G>T
c.1167C>A (p.Pro389=)
c.1269C>A (p.Pro423=)
c.1209C>A (p.Pro403=)
n.3607-220G>T
n.4043-220G>T
c.1092C>A (p.Pro364=)
c.1110C>A (p.Pro370=)
c.867C>A (p.Pro289=)
c.900C>A (p.Pro300=)
c.918C>A (p.Pro306=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428484C=CA1286884495PROCc.924C= (p.Pro308=)
c.248C=
c.1026C= (p.Pro342=)
c.1107C= (p.Pro369=)
c.1089C= (p.Pro363=)
c.987C= (p.Pro329=)
n.1332-220G=
c.1167C= (p.Pro389=)
c.1269C= (p.Pro423=)
c.1209C= (p.Pro403=)
n.3607-220G=
n.4043-220G=
c.1092C= (p.Pro364=)
c.1110C= (p.Pro370=)
c.867C= (p.Pro289=)
c.900C= (p.Pro300=)
c.918C= (p.Pro306=)
2g.127428484C>GCA428871467PROCc.924C>G (p.Pro308=)
c.248C>G
c.1026C>G (p.Pro342=)
c.1107C>G (p.Pro369=)
c.1089C>G (p.Pro363=)
c.987C>G (p.Pro329=)
n.1332-220G>C
c.1167C>G (p.Pro389=)
c.1269C>G (p.Pro423=)
c.1209C>G (p.Pro403=)
n.3607-220G>C
n.4043-220G>C
c.1092C>G (p.Pro364=)
c.1110C>G (p.Pro370=)
c.867C>G (p.Pro289=)
c.900C>G (p.Pro300=)
c.918C>G (p.Pro306=)
2g.127428484C>TCA1859487PROCc.924C>T (p.Pro308=)
c.248C>T
c.1026C>T (p.Pro342=)
c.1107C>T (p.Pro369=)
c.1089C>T (p.Pro363=)
c.987C>T (p.Pro329=)
n.1332-220G>A
c.1167C>T (p.Pro389=)
c.1269C>T (p.Pro423=)
c.1209C>T (p.Pro403=)
n.3607-220G>A
n.4043-220G>A
c.1092C>T (p.Pro364=)
c.1110C>T (p.Pro370=)
c.867C>T (p.Pro289=)
c.900C>T (p.Pro300=)
c.918C>T (p.Pro306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428485G>ACA114396PROCc.925G>A (p.Ala309Thr)
c.249G>A
c.1027G>A (p.Ala343Thr)
c.1108G>A (p.Ala370Thr)
c.1090G>A (p.Ala364Thr)
c.988G>A (p.Ala330Thr)
n.1332-221C>T
c.1168G>A (p.Ala390Thr)
c.1270G>A (p.Ala424Thr)
c.1210G>A (p.Ala404Thr)
n.3607-221C>T
n.4043-221C>T
c.1093G>A (p.Ala365Thr)
c.1111G>A (p.Ala371Thr)
c.868G>A (p.Ala290Thr)
c.901G>A (p.Ala301Thr)
c.919G>A (p.Ala307Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428485G>CCA348404879PROCc.925G>C (p.Ala309Pro)
c.249G>C
c.1027G>C (p.Ala343Pro)
c.1108G>C (p.Ala370Pro)
c.1090G>C (p.Ala364Pro)
c.988G>C (p.Ala330Pro)
n.1332-221C>G
c.1168G>C (p.Ala390Pro)
c.1270G>C (p.Ala424Pro)
c.1210G>C (p.Ala404Pro)
n.3607-221C>G
n.4043-221C>G
c.1093G>C (p.Ala365Pro)
c.1111G>C (p.Ala371Pro)
c.868G>C (p.Ala290Pro)
c.901G>C (p.Ala301Pro)
c.919G>C (p.Ala307Pro)
 gnomAD v4
2g.127428485G=CA1286884496PROCc.925G= (p.Ala309=)
c.249G=
c.1027G= (p.Ala343=)
c.1108G= (p.Ala370=)
c.1090G= (p.Ala364=)
c.988G= (p.Ala330=)
n.1332-221C=
c.1168G= (p.Ala390=)
c.1270G= (p.Ala424=)
c.1210G= (p.Ala404=)
n.3607-221C=
n.4043-221C=
c.1093G= (p.Ala365=)
c.1111G= (p.Ala371=)
c.868G= (p.Ala290=)
c.901G= (p.Ala301=)
c.919G= (p.Ala307=)
2g.127428485G>TCA348404882PROCc.925G>T (p.Ala309Ser)
c.249G>T
c.1027G>T (p.Ala343Ser)
c.1108G>T (p.Ala370Ser)
c.1090G>T (p.Ala364Ser)
c.988G>T (p.Ala330Ser)
n.1332-221C>A
c.1168G>T (p.Ala390Ser)
c.1270G>T (p.Ala424Ser)
c.1210G>T (p.Ala404Ser)
n.3607-221C>A
n.4043-221C>A
c.1093G>T (p.Ala365Ser)
c.1111G>T (p.Ala371Ser)
c.868G>T (p.Ala290Ser)
c.901G>T (p.Ala301Ser)
c.919G>T (p.Ala307Ser)
2g.127428486C>ACA348404888PROCc.926C>A (p.Ala309Asp)
c.250C>A
c.1028C>A (p.Ala343Asp)
c.1109C>A (p.Ala370Asp)
c.1091C>A (p.Ala364Asp)
c.989C>A (p.Ala330Asp)
n.1332-222G>T
c.1169C>A (p.Ala390Asp)
c.1271C>A (p.Ala424Asp)
c.1211C>A (p.Ala404Asp)
n.3607-222G>T
n.4043-222G>T
c.1094C>A (p.Ala365Asp)
c.1112C>A (p.Ala371Asp)
c.869C>A (p.Ala290Asp)
c.902C>A (p.Ala301Asp)
c.920C>A (p.Ala307Asp)
2g.127428486C>GCA348404890PROCc.926C>G (p.Ala309Gly)
c.250C>G
c.1028C>G (p.Ala343Gly)
c.1109C>G (p.Ala370Gly)
c.1091C>G (p.Ala364Gly)
c.989C>G (p.Ala330Gly)
n.1332-222G>C
c.1169C>G (p.Ala390Gly)
c.1271C>G (p.Ala424Gly)
c.1211C>G (p.Ala404Gly)
n.3607-222G>C
n.4043-222G>C
c.1094C>G (p.Ala365Gly)
c.1112C>G (p.Ala371Gly)
c.869C>G (p.Ala290Gly)
c.902C>G (p.Ala301Gly)
c.920C>G (p.Ala307Gly)
2g.127428486C>TCA348404891PROCc.926C>T (p.Ala309Val)
c.250C>T
c.1028C>T (p.Ala343Val)
c.1109C>T (p.Ala370Val)
c.1091C>T (p.Ala364Val)
c.989C>T (p.Ala330Val)
n.1332-222G>A
c.1169C>T (p.Ala390Val)
c.1271C>T (p.Ala424Val)
c.1211C>T (p.Ala404Val)
n.3607-222G>A
n.4043-222G>A
c.1094C>T (p.Ala365Val)
c.1112C>T (p.Ala371Val)
c.869C>T (p.Ala290Val)
c.902C>T (p.Ala301Val)
c.920C>T (p.Ala307Val)
2g.127428487C>ACA428871483PROCc.927C>A (p.Ala309=)
c.251C>A
c.1029C>A (p.Ala343=)
c.1110C>A (p.Ala370=)
c.1092C>A (p.Ala364=)
c.990C>A (p.Ala330=)
n.1332-223G>T
c.1170C>A (p.Ala390=)
c.1272C>A (p.Ala424=)
c.1212C>A (p.Ala404=)
n.3607-223G>T
n.4043-223G>T
c.1095C>A (p.Ala365=)
c.1113C>A (p.Ala371=)
c.870C>A (p.Ala290=)
c.903C>A (p.Ala301=)
c.921C>A (p.Ala307=)
 gnomAD v4
2g.127428487C=CA1286884497PROCc.927C= (p.Ala309=)
c.251C=
c.1029C= (p.Ala343=)
c.1110C= (p.Ala370=)
c.1092C= (p.Ala364=)
c.990C= (p.Ala330=)
n.1332-223G=
c.1170C= (p.Ala390=)
c.1272C= (p.Ala424=)
c.1212C= (p.Ala404=)
n.3607-223G=
n.4043-223G=
c.1095C= (p.Ala365=)
c.1113C= (p.Ala371=)
c.870C= (p.Ala290=)
c.903C= (p.Ala301=)
c.921C= (p.Ala307=)
2g.127428487C>GCA428871485PROCc.927C>G (p.Ala309=)
c.251C>G
c.1029C>G (p.Ala343=)
c.1110C>G (p.Ala370=)
c.1092C>G (p.Ala364=)
c.990C>G (p.Ala330=)
n.1332-223G>C
c.1170C>G (p.Ala390=)
c.1272C>G (p.Ala424=)
c.1212C>G (p.Ala404=)
n.3607-223G>C
n.4043-223G>C
c.1095C>G (p.Ala365=)
c.1113C>G (p.Ala371=)
c.870C>G (p.Ala290=)
c.903C>G (p.Ala301=)
c.921C>G (p.Ala307=)
2g.127428487C>TCA1859488PROCc.927C>T (p.Ala309=)
c.251C>T
c.1029C>T (p.Ala343=)
c.1110C>T (p.Ala370=)
c.1092C>T (p.Ala364=)
c.990C>T (p.Ala330=)
n.1332-223G>A
c.1170C>T (p.Ala390=)
c.1272C>T (p.Ala424=)
c.1212C>T (p.Ala404=)
n.3607-223G>A
n.4043-223G>A
c.1095C>T (p.Ala365=)
c.1113C>T (p.Ala371=)
c.870C>T (p.Ala290=)
c.903C>T (p.Ala301=)
c.921C>T (p.Ala307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428488A>CCA348404892PROCc.928A>C (p.Thr310Pro)
c.252A>C
c.1030A>C (p.Thr344Pro)
c.1111A>C (p.Thr371Pro)
c.1093A>C (p.Thr365Pro)
c.991A>C (p.Thr331Pro)
n.1332-224T>G
c.1171A>C (p.Thr391Pro)
c.1273A>C (p.Thr425Pro)
c.1213A>C (p.Thr405Pro)
n.3607-224T>G
n.4043-224T>G
c.1096A>C (p.Thr366Pro)
c.1114A>C (p.Thr372Pro)
c.871A>C (p.Thr291Pro)
c.904A>C (p.Thr302Pro)
c.922A>C (p.Thr308Pro)
2g.127428488A>GCA348404895PROCc.928A>G (p.Thr310Ala)
c.252A>G
c.1030A>G (p.Thr344Ala)
c.1111A>G (p.Thr371Ala)
c.1093A>G (p.Thr365Ala)
c.991A>G (p.Thr331Ala)
n.1332-224T>C
c.1171A>G (p.Thr391Ala)
c.1273A>G (p.Thr425Ala)
c.1213A>G (p.Thr405Ala)
n.3607-224T>C
n.4043-224T>C
c.1096A>G (p.Thr366Ala)
c.1114A>G (p.Thr372Ala)
c.871A>G (p.Thr291Ala)
c.904A>G (p.Thr302Ala)
c.922A>G (p.Thr308Ala)
2g.127428488A>TCA348404906PROCc.928A>T (p.Thr310Ser)
c.252A>T
c.1030A>T (p.Thr344Ser)
c.1111A>T (p.Thr371Ser)
c.1093A>T (p.Thr365Ser)
c.991A>T (p.Thr331Ser)
n.1332-224T>A
c.1171A>T (p.Thr391Ser)
c.1273A>T (p.Thr425Ser)
c.1213A>T (p.Thr405Ser)
n.3607-224T>A
n.4043-224T>A
c.1096A>T (p.Thr366Ser)
c.1114A>T (p.Thr372Ser)
c.871A>T (p.Thr291Ser)
c.904A>T (p.Thr302Ser)
c.922A>T (p.Thr308Ser)
2g.127428489C>ACA348404916PROCc.929C>A (p.Thr310Asn)
c.253C>A
c.1031C>A (p.Thr344Asn)
c.1112C>A (p.Thr371Asn)
c.1094C>A (p.Thr365Asn)
c.992C>A (p.Thr331Asn)
n.1332-225G>T
c.1172C>A (p.Thr391Asn)
c.1274C>A (p.Thr425Asn)
c.1214C>A (p.Thr405Asn)
n.3607-225G>T
n.4043-225G>T
c.1097C>A (p.Thr366Asn)
c.1115C>A (p.Thr372Asn)
c.872C>A (p.Thr291Asn)
c.905C>A (p.Thr302Asn)
c.923C>A (p.Thr308Asn)
 COSMIC COSMIC
2g.127428489C>GCA348404913PROCc.929C>G (p.Thr310Ser)
c.253C>G
c.1031C>G (p.Thr344Ser)
c.1112C>G (p.Thr371Ser)
c.1094C>G (p.Thr365Ser)
c.992C>G (p.Thr331Ser)
n.1332-225G>C
c.1172C>G (p.Thr391Ser)
c.1274C>G (p.Thr425Ser)
c.1214C>G (p.Thr405Ser)
n.3607-225G>C
n.4043-225G>C
c.1097C>G (p.Thr366Ser)
c.1115C>G (p.Thr372Ser)
c.872C>G (p.Thr291Ser)
c.905C>G (p.Thr302Ser)
c.923C>G (p.Thr308Ser)
2g.127428489C>TCA348404910PROCc.929C>T (p.Thr310Ile)
c.253C>T
c.1031C>T (p.Thr344Ile)
c.1112C>T (p.Thr371Ile)
c.1094C>T (p.Thr365Ile)
c.992C>T (p.Thr331Ile)
n.1332-225G>A
c.1172C>T (p.Thr391Ile)
c.1274C>T (p.Thr425Ile)
c.1214C>T (p.Thr405Ile)
n.3607-225G>A
n.4043-225G>A
c.1097C>T (p.Thr366Ile)
c.1115C>T (p.Thr372Ile)
c.872C>T (p.Thr291Ile)
c.905C>T (p.Thr302Ile)
c.923C>T (p.Thr308Ile)
 gnomAD v4
2g.127428490C>ACA428871499PROCc.930C>A (p.Thr310=)
c.254C>A
c.1032C>A (p.Thr344=)
c.1113C>A (p.Thr371=)
c.1095C>A (p.Thr365=)
c.993C>A (p.Thr331=)
n.1332-226G>T
c.1173C>A (p.Thr391=)
c.1275C>A (p.Thr425=)
c.1215C>A (p.Thr405=)
n.3607-226G>T
n.4043-226G>T
c.1098C>A (p.Thr366=)
c.1116C>A (p.Thr372=)
c.873C>A (p.Thr291=)
c.906C>A (p.Thr302=)
c.924C>A (p.Thr308=)
2g.127428490C=CA1286884498PROCc.930C= (p.Thr310=)
c.254C=
c.1032C= (p.Thr344=)
c.1113C= (p.Thr371=)
c.1095C= (p.Thr365=)
c.993C= (p.Thr331=)
n.1332-226G=
c.1173C= (p.Thr391=)
c.1275C= (p.Thr425=)
c.1215C= (p.Thr405=)
n.3607-226G=
n.4043-226G=
c.1098C= (p.Thr366=)
c.1116C= (p.Thr372=)
c.873C= (p.Thr291=)
c.906C= (p.Thr302=)
c.924C= (p.Thr308=)
2g.127428490C>GCA428871503PROCc.930C>G (p.Thr310=)
c.254C>G
c.1032C>G (p.Thr344=)
c.1113C>G (p.Thr371=)
c.1095C>G (p.Thr365=)
c.993C>G (p.Thr331=)
n.1332-226G>C
c.1173C>G (p.Thr391=)
c.1275C>G (p.Thr425=)
c.1215C>G (p.Thr405=)
n.3607-226G>C
n.4043-226G>C
c.1098C>G (p.Thr366=)
c.1116C>G (p.Thr372=)
c.873C>G (p.Thr291=)
c.906C>G (p.Thr302=)
c.924C>G (p.Thr308=)
2g.127428490C>TCA428871501PROCc.930C>T (p.Thr310=)
c.254C>T
c.1032C>T (p.Thr344=)
c.1113C>T (p.Thr371=)
c.1095C>T (p.Thr365=)
c.993C>T (p.Thr331=)
n.1332-226G>A
c.1173C>T (p.Thr391=)
c.1275C>T (p.Thr425=)
c.1215C>T (p.Thr405=)
n.3607-226G>A
n.4043-226G>A
c.1098C>T (p.Thr366=)
c.1116C>T (p.Thr372=)
c.873C>T (p.Thr291=)
c.906C>T (p.Thr302=)
c.924C>T (p.Thr308=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428491C>ACA348404920PROCc.931C>A (p.Leu311Ile)
c.255C>A
c.1033C>A (p.Leu345Ile)
c.1114C>A (p.Leu372Ile)
c.1096C>A (p.Leu366Ile)
c.994C>A (p.Leu332Ile)
n.1332-227G>T
c.1174C>A (p.Leu392Ile)
c.1276C>A (p.Leu426Ile)
c.1216C>A (p.Leu406Ile)
n.3607-227G>T
n.4043-227G>T
c.1099C>A (p.Leu367Ile)
c.1117C>A (p.Leu373Ile)
c.874C>A (p.Leu292Ile)
c.907C>A (p.Leu303Ile)
c.925C>A (p.Leu309Ile)
2g.127428491C=CA1286884499PROCc.931C= (p.Leu311=)
c.255C=
c.1033C= (p.Leu345=)
c.1114C= (p.Leu372=)
c.1096C= (p.Leu366=)
c.994C= (p.Leu332=)
n.1332-227G=
c.1174C= (p.Leu392=)
c.1276C= (p.Leu426=)
c.1216C= (p.Leu406=)
n.3607-227G=
n.4043-227G=
c.1099C= (p.Leu367=)
c.1117C= (p.Leu373=)
c.874C= (p.Leu292=)
c.907C= (p.Leu303=)
c.925C= (p.Leu309=)
2g.127428491C>GCA348404925PROCc.931C>G (p.Leu311Val)
c.255C>G
c.1033C>G (p.Leu345Val)
c.1114C>G (p.Leu372Val)
c.1096C>G (p.Leu366Val)
c.994C>G (p.Leu332Val)
n.1332-227G>C
c.1174C>G (p.Leu392Val)
c.1276C>G (p.Leu426Val)
c.1216C>G (p.Leu406Val)
n.3607-227G>C
n.4043-227G>C
c.1099C>G (p.Leu367Val)
c.1117C>G (p.Leu373Val)
c.874C>G (p.Leu292Val)
c.907C>G (p.Leu303Val)
c.925C>G (p.Leu309Val)
2g.127428491C>TCA348404928PROCc.931C>T (p.Leu311Phe)
c.255C>T
c.1033C>T (p.Leu345Phe)
c.1114C>T (p.Leu372Phe)
c.1096C>T (p.Leu366Phe)
c.994C>T (p.Leu332Phe)
n.1332-227G>A
c.1174C>T (p.Leu392Phe)
c.1276C>T (p.Leu426Phe)
c.1216C>T (p.Leu406Phe)
n.3607-227G>A
n.4043-227G>A
c.1099C>T (p.Leu367Phe)
c.1117C>T (p.Leu373Phe)
c.874C>T (p.Leu292Phe)
c.907C>T (p.Leu303Phe)
c.925C>T (p.Leu309Phe)
 dbSNP
2g.127428492T>ACA348404932PROCc.932T>A (p.Leu311His)
c.256T>A
c.1034T>A (p.Leu345His)
c.1115T>A (p.Leu372His)
c.1097T>A (p.Leu366His)
c.995T>A (p.Leu332His)
n.1332-228A>T
c.1175T>A (p.Leu392His)
c.1277T>A (p.Leu426His)
c.1217T>A (p.Leu406His)
n.3607-228A>T
n.4043-228A>T
c.1100T>A (p.Leu367His)
c.1118T>A (p.Leu373His)
c.875T>A (p.Leu292His)
c.908T>A (p.Leu303His)
c.926T>A (p.Leu309His)
2g.127428492T>CCA348404934PROCc.932T>C (p.Leu311Pro)
c.256T>C
c.1034T>C (p.Leu345Pro)
c.1115T>C (p.Leu372Pro)
c.1097T>C (p.Leu366Pro)
c.995T>C (p.Leu332Pro)
n.1332-228A>G
c.1175T>C (p.Leu392Pro)
c.1277T>C (p.Leu426Pro)
c.1217T>C (p.Leu406Pro)
n.3607-228A>G
n.4043-228A>G
c.1100T>C (p.Leu367Pro)
c.1118T>C (p.Leu373Pro)
c.875T>C (p.Leu292Pro)
c.908T>C (p.Leu303Pro)
c.926T>C (p.Leu309Pro)
2g.127428492T>GCA348404936PROCc.932T>G (p.Leu311Arg)
c.256T>G
c.1034T>G (p.Leu345Arg)
c.1115T>G (p.Leu372Arg)
c.1097T>G (p.Leu366Arg)
c.995T>G (p.Leu332Arg)
n.1332-228A>C
c.1175T>G (p.Leu392Arg)
c.1277T>G (p.Leu426Arg)
c.1217T>G (p.Leu406Arg)
n.3607-228A>C
n.4043-228A>C
c.1100T>G (p.Leu367Arg)
c.1118T>G (p.Leu373Arg)
c.875T>G (p.Leu292Arg)
c.908T>G (p.Leu303Arg)
c.926T>G (p.Leu309Arg)
2g.127428493C>ACA428871518PROCc.933C>A (p.Leu311=)
c.257C>A
c.1035C>A (p.Leu345=)
c.1116C>A (p.Leu372=)
c.1098C>A (p.Leu366=)
c.996C>A (p.Leu332=)
n.1332-229G>T
c.1176C>A (p.Leu392=)
c.1278C>A (p.Leu426=)
c.1218C>A (p.Leu406=)
n.3607-229G>T
n.4043-229G>T
c.1101C>A (p.Leu367=)
c.1119C>A (p.Leu373=)
c.876C>A (p.Leu292=)
c.909C>A (p.Leu303=)
c.927C>A (p.Leu309=)
2g.127428493C>GCA428871516PROCc.933C>G (p.Leu311=)
c.257C>G
c.1035C>G (p.Leu345=)
c.1116C>G (p.Leu372=)
c.1098C>G (p.Leu366=)
c.996C>G (p.Leu332=)
n.1332-229G>C
c.1176C>G (p.Leu392=)
c.1278C>G (p.Leu426=)
c.1218C>G (p.Leu406=)
n.3607-229G>C
n.4043-229G>C
c.1101C>G (p.Leu367=)
c.1119C>G (p.Leu373=)
c.876C>G (p.Leu292=)
c.909C>G (p.Leu303=)
c.927C>G (p.Leu309=)
2g.127428493C>TCA428871514PROCc.933C>T (p.Leu311=)
c.257C>T
c.1035C>T (p.Leu345=)
c.1116C>T (p.Leu372=)
c.1098C>T (p.Leu366=)
c.996C>T (p.Leu332=)
n.1332-229G>A
c.1176C>T (p.Leu392=)
c.1278C>T (p.Leu426=)
c.1218C>T (p.Leu406=)
n.3607-229G>A
n.4043-229G>A
c.1101C>T (p.Leu367=)
c.1119C>T (p.Leu373=)
c.876C>T (p.Leu292=)
c.909C>T (p.Leu303=)
c.927C>T (p.Leu309=)
2g.127428494T>ACA348404943PROCc.934T>A (p.Ser312Thr)
c.258T>A
c.1036T>A (p.Ser346Thr)
c.1117T>A (p.Ser373Thr)
c.1099T>A (p.Ser367Thr)
c.997T>A (p.Ser333Thr)
n.1332-230A>T
c.1177T>A (p.Ser393Thr)
c.1279T>A (p.Ser427Thr)
c.1219T>A (p.Ser407Thr)
n.3607-230A>T
n.4043-230A>T
c.1102T>A (p.Ser368Thr)
c.1120T>A (p.Ser374Thr)
c.877T>A (p.Ser293Thr)
c.910T>A (p.Ser304Thr)
c.928T>A (p.Ser310Thr)
2g.127428494T>CCA348404947PROCc.934T>C (p.Ser312Pro)
c.258T>C
c.1036T>C (p.Ser346Pro)
c.1117T>C (p.Ser373Pro)
c.1099T>C (p.Ser367Pro)
c.997T>C (p.Ser333Pro)
n.1332-230A>G
c.1177T>C (p.Ser393Pro)
c.1279T>C (p.Ser427Pro)
c.1219T>C (p.Ser407Pro)
n.3607-230A>G
n.4043-230A>G
c.1102T>C (p.Ser368Pro)
c.1120T>C (p.Ser374Pro)
c.877T>C (p.Ser293Pro)
c.910T>C (p.Ser304Pro)
c.928T>C (p.Ser310Pro)
2g.127428494T>GCA348404948PROCc.934T>G (p.Ser312Ala)
c.258T>G
c.1036T>G (p.Ser346Ala)
c.1117T>G (p.Ser373Ala)
c.1099T>G (p.Ser367Ala)
c.997T>G (p.Ser333Ala)
n.1332-230A>C
c.1177T>G (p.Ser393Ala)
c.1279T>G (p.Ser427Ala)
c.1219T>G (p.Ser407Ala)
n.3607-230A>C
n.4043-230A>C
c.1102T>G (p.Ser368Ala)
c.1120T>G (p.Ser374Ala)
c.877T>G (p.Ser293Ala)
c.910T>G (p.Ser304Ala)
c.928T>G (p.Ser310Ala)
2g.127428495C>ACA348404950PROCc.935C>A (p.Ser312Ter)
c.259C>A
c.1037C>A (p.Ser346Ter)
c.1118C>A (p.Ser373Ter)
c.1100C>A (p.Ser367Ter)
c.998C>A (p.Ser333Ter)
n.1332-231G>T
c.1178C>A (p.Ser393Ter)
c.1280C>A (p.Ser427Ter)
c.1220C>A (p.Ser407Ter)
n.3607-231G>T
n.4043-231G>T
c.1103C>A (p.Ser368Ter)
c.1121C>A (p.Ser374Ter)
c.878C>A (p.Ser293Ter)
c.911C>A (p.Ser304Ter)
c.929C>A (p.Ser310Ter)
 gnomAD v4
2g.127428495C=CA1286884500PROCc.935C= (p.Ser312=)
c.259C=
c.1037C= (p.Ser346=)
c.1118C= (p.Ser373=)
c.1100C= (p.Ser367=)
c.998C= (p.Ser333=)
n.1332-231G=
c.1178C= (p.Ser393=)
c.1280C= (p.Ser427=)
c.1220C= (p.Ser407=)
n.3607-231G=
n.4043-231G=
c.1103C= (p.Ser368=)
c.1121C= (p.Ser374=)
c.878C= (p.Ser293=)
c.911C= (p.Ser304=)
c.929C= (p.Ser310=)
2g.127428495C>GCA348404952PROCc.935C>G (p.Ser312Trp)
c.259C>G
c.1037C>G (p.Ser346Trp)
c.1118C>G (p.Ser373Trp)
c.1100C>G (p.Ser367Trp)
c.998C>G (p.Ser333Trp)
n.1332-231G>C
c.1178C>G (p.Ser393Trp)
c.1280C>G (p.Ser427Trp)
c.1220C>G (p.Ser407Trp)
n.3607-231G>C
n.4043-231G>C
c.1103C>G (p.Ser368Trp)
c.1121C>G (p.Ser374Trp)
c.878C>G (p.Ser293Trp)
c.911C>G (p.Ser304Trp)
c.929C>G (p.Ser310Trp)
2g.127428495C>TCA114431PROCc.935C>T (p.Ser312Leu)
c.259C>T
c.1037C>T (p.Ser346Leu)
c.1118C>T (p.Ser373Leu)
c.1100C>T (p.Ser367Leu)
c.998C>T (p.Ser333Leu)
n.1332-231G>A
c.1178C>T (p.Ser393Leu)
c.1280C>T (p.Ser427Leu)
c.1220C>T (p.Ser407Leu)
n.3607-231G>A
n.4043-231G>A
c.1103C>T (p.Ser368Leu)
c.1121C>T (p.Ser374Leu)
c.878C>T (p.Ser293Leu)
c.911C>T (p.Ser304Leu)
c.929C>T (p.Ser310Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched