Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.16006522_16006539dupCA2670099868PROM1c.1453_1454+16dup
c.*1136_*1137+16dup
c.1426_1427+16dup
c.1511_1512+16dup
c.1219_1220+16dup
c.1246_1247+16dup
c.1180_1181+16dup
gnomAD v4
4g.16006530A>TCA2670099898PROM1c.1454+8T>A (n.1454+8T>A)
c.*1137+8T>A (n.*1137+8T>A)
c.1427+8T>A (n.1427+8T>A)
c.1512+8T>A
c.1220+8T>A (n.1220+8T>A)
c.1247+8T>A (n.1247+8T>A)
c.1181+8T>A (n.1181+8T>A)
gnomAD v4
4g.16006530_16006534delinsACACTCA1440916636PROM1c.1454+4_1454+8delinsAGTGT (n.1454+4_1454+8delinsAGTGT)
c.*1137+4_*1137+8delinsAGTGT (n.*1137+4_*1137+8delinsAGTGT)
c.1427+4_1427+8delinsAGTGT (n.1427+4_1427+8delinsAGTGT)
c.1512+4_1512+8delinsAGTGT
c.1220+4_1220+8delinsAGTGT (n.1220+4_1220+8delinsAGTGT)
c.1247+4_1247+8delinsAGTGT (n.1247+4_1247+8delinsAGTGT)
c.1181+4_1181+8delinsAGTGT (n.1181+4_1181+8delinsAGTGT)
4g.16006531C>ACA2670099901PROM1c.1454+7G>T (n.1454+7G>T)
c.*1137+7G>T (n.*1137+7G>T)
c.1427+7G>T (n.1427+7G>T)
c.1512+7G>T
c.1220+7G>T (n.1220+7G>T)
c.1247+7G>T (n.1247+7G>T)
c.1181+7G>T (n.1181+7G>T)
gnomAD v4
4g.16006534_16006537delCA2866766PROM1c.1454+4_1454+7del (n.1454+4_1454+7del)
c.*1137+4_*1137+7del (n.*1137+4_*1137+7del)
c.1427+4_1427+7del (n.1427+4_1427+7del)
c.1512+4_1512+7del
c.1220+4_1220+7del (n.1220+4_1220+7del)
c.1247+4_1247+7del (n.1247+4_1247+7del)
c.1181+4_1181+7del (n.1181+4_1181+7del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006532A>TCA2670099903PROM1c.1454+6T>A (n.1454+6T>A)
c.*1137+6T>A (n.*1137+6T>A)
c.1427+6T>A (n.1427+6T>A)
c.1512+6T>A
c.1220+6T>A (n.1220+6T>A)
c.1247+6T>A (n.1247+6T>A)
c.1181+6T>A (n.1181+6T>A)
gnomAD v4
4g.16006533C>ACA2670099908PROM1c.1454+5G>T (n.1454+5G>T)
c.*1137+5G>T (n.*1137+5G>T)
c.1427+5G>T (n.1427+5G>T)
c.1512+5G>T
c.1220+5G>T (n.1220+5G>T)
c.1247+5G>T (n.1247+5G>T)
c.1181+5G>T (n.1181+5G>T)
gnomAD v4
4g.16006533C=CA1440916637PROM1c.1454+5G= (n.1454+5G=)
c.*1137+5G= (n.*1137+5G=)
c.1427+5G= (n.1427+5G=)
c.1512+5G=
c.1220+5G= (n.1220+5G=)
c.1247+5G= (n.1247+5G=)
c.1181+5G= (n.1181+5G=)
4g.16006533C>TCA789850283PROM1c.1454+5G>A (n.1454+5G>A)
c.*1137+5G>A (n.*1137+5G>A)
c.1427+5G>A (n.1427+5G>A)
c.1512+5G>A
c.1220+5G>A (n.1220+5G>A)
c.1247+5G>A (n.1247+5G>A)
c.1181+5G>A (n.1181+5G>A)
dbSNP gnomAD v3 gnomAD v4
4g.16006534T>ACA2670099913PROM1c.1454+4A>T (n.1454+4A>T)
c.*1137+4A>T (n.*1137+4A>T)
c.1427+4A>T (n.1427+4A>T)
c.1512+4A>T
c.1220+4A>T (n.1220+4A>T)
c.1247+4A>T (n.1247+4A>T)
c.1181+4A>T (n.1181+4A>T)
gnomAD v4
4g.16006534T>CCA2866767PROM1c.1454+4A>G (n.1454+4A>G)
c.*1137+4A>G (n.*1137+4A>G)
c.1427+4A>G (n.1427+4A>G)
c.1512+4A>G
c.1220+4A>G (n.1220+4A>G)
c.1247+4A>G (n.1247+4A>G)
c.1181+4A>G (n.1181+4A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006534T>GCA2670099914PROM1c.1454+4A>C (n.1454+4A>C)
c.*1137+4A>C (n.*1137+4A>C)
c.1427+4A>C (n.1427+4A>C)
c.1512+4A>C
c.1220+4A>C (n.1220+4A>C)
c.1247+4A>C (n.1247+4A>C)
c.1181+4A>C (n.1181+4A>C)
gnomAD v4
4g.16006534T=CA1440916638PROM1c.1454+4A= (n.1454+4A=)
c.*1137+4A= (n.*1137+4A=)
c.1427+4A= (n.1427+4A=)
c.1512+4A=
c.1220+4A= (n.1220+4A=)
c.1247+4A= (n.1247+4A=)
c.1181+4A= (n.1181+4A=)
4g.16006535C>ACA2670099917PROM1c.1454+3G>T (n.1454+3G>T)
c.*1137+3G>T (n.*1137+3G>T)
c.1427+3G>T (n.1427+3G>T)
c.1512+3G>T
c.1220+3G>T (n.1220+3G>T)
c.1247+3G>T (n.1247+3G>T)
c.1181+3G>T (n.1181+3G>T)
gnomAD v4
4g.16006535C>GCA2670099918PROM1c.1454+3G>C (n.1454+3G>C)
c.*1137+3G>C (n.*1137+3G>C)
c.1427+3G>C (n.1427+3G>C)
c.1512+3G>C
c.1220+3G>C (n.1220+3G>C)
c.1247+3G>C (n.1247+3G>C)
c.1181+3G>C (n.1181+3G>C)
gnomAD v4
4g.16006535C>TCA2670099919PROM1c.1454+3G>A (n.1454+3G>A)
c.*1137+3G>A (n.*1137+3G>A)
c.1427+3G>A (n.1427+3G>A)
c.1512+3G>A
c.1220+3G>A (n.1220+3G>A)
c.1247+3G>A (n.1247+3G>A)
c.1181+3G>A (n.1181+3G>A)
gnomAD v4
4g.16006536A>CCA356435008PROM1c.1454+2T>G (n.1454+2T>G)
c.*1137+2T>G (n.*1137+2T>G)
c.1427+2T>G (n.1427+2T>G)
c.1512+2T>G
c.1220+2T>G (n.1220+2T>G)
c.1247+2T>G (n.1247+2T>G)
c.1181+2T>G (n.1181+2T>G)
4g.16006536A>GCA356435010PROM1c.1454+2T>C (n.1454+2T>C)
c.*1137+2T>C (n.*1137+2T>C)
c.1427+2T>C (n.1427+2T>C)
c.1512+2T>C
c.1220+2T>C (n.1220+2T>C)
c.1247+2T>C (n.1247+2T>C)
c.1181+2T>C (n.1181+2T>C)
4g.16006536A>TCA356435012PROM1c.1454+2T>A (n.1454+2T>A)
c.*1137+2T>A (n.*1137+2T>A)
c.1427+2T>A (n.1427+2T>A)
c.1512+2T>A
c.1220+2T>A (n.1220+2T>A)
c.1247+2T>A (n.1247+2T>A)
c.1181+2T>A (n.1181+2T>A)
4g.16006537C>ACA356435015PROM1c.1454+1G>T (n.1454+1G>T)
c.*1137+1G>T (n.*1137+1G>T)
c.1427+1G>T (n.1427+1G>T)
c.1512+1G>T
c.1220+1G>T (n.1220+1G>T)
c.1247+1G>T (n.1247+1G>T)
c.1181+1G>T (n.1181+1G>T)
gnomAD v4
4g.16006537C>GCA356435016PROM1c.1454+1G>C (n.1454+1G>C)
c.*1137+1G>C (n.*1137+1G>C)
c.1427+1G>C (n.1427+1G>C)
c.1512+1G>C
c.1220+1G>C (n.1220+1G>C)
c.1247+1G>C (n.1247+1G>C)
c.1181+1G>C (n.1181+1G>C)
4g.16006537C>TCA356435018PROM1c.1454+1G>A (n.1454+1G>A)
c.*1137+1G>A (n.*1137+1G>A)
c.1427+1G>A (n.1427+1G>A)
c.1512+1G>A
c.1220+1G>A (n.1220+1G>A)
c.1247+1G>A (n.1247+1G>A)
c.1181+1G>A (n.1181+1G>A)
gnomAD v4
4g.16006538A=CA1440916639PROM1c.1454T= (p.Val485=)
c.*1137T= (n.*1137T=)
c.1427T= (p.Val476=)
c.1512T=
c.1220T= (p.Val407=)
c.1247T= (p.Val416=)
c.1181T= (p.Val394=)
4g.16006538A>CCA356435020PROM1c.1454T>G (p.Val485Gly)
c.*1137T>G (n.*1137T>G)
c.1427T>G (p.Val476Gly)
c.1512T>G
c.1220T>G (p.Val407Gly)
c.1247T>G (p.Val416Gly)
c.1181T>G (p.Val394Gly)
4g.16006538A>GCA356435022PROM1c.1454T>C (p.Val485Ala)
c.*1137T>C (n.*1137T>C)
c.1427T>C (p.Val476Ala)
c.1512T>C
c.1220T>C (p.Val407Ala)
c.1247T>C (p.Val416Ala)
c.1181T>C (p.Val394Ala)
dbSNP gnomAD v4
4g.16006538A>TCA356435024PROM1c.1454T>A (p.Val485Asp)
c.*1137T>A (n.*1137T>A)
c.1427T>A (p.Val476Asp)
c.1512T>A
c.1220T>A (p.Val407Asp)
c.1247T>A (p.Val416Asp)
c.1181T>A (p.Val394Asp)
4g.16006539C>ACA356435028PROM1c.1453G>T (p.Val485Phe)
c.*1136G>T (n.*1136G>T)
c.1426G>T (p.Val476Phe)
c.1511G>T
c.1219G>T (p.Val407Phe)
c.1246G>T (p.Val416Phe)
c.1180G>T (p.Val394Phe)
gnomAD v4
4g.16006539C=CA1440916640PROM1c.1453G= (p.Val485=)
c.*1136G= (n.*1136G=)
c.1426G= (p.Val476=)
c.1511G=
c.1219G= (p.Val407=)
c.1246G= (p.Val416=)
c.1180G= (p.Val394=)
4g.16006539C>GCA356435031PROM1c.1453G>C (p.Val485Leu)
c.*1136G>C (n.*1136G>C)
c.1426G>C (p.Val476Leu)
c.1511G>C
c.1219G>C (p.Val407Leu)
c.1246G>C (p.Val416Leu)
c.1180G>C (p.Val394Leu)
4g.16006539C>TCA356435026PROM1c.1453G>A (p.Val485Ile)
c.*1136G>A (n.*1136G>A)
c.1426G>A (p.Val476Ile)
c.1511G>A
c.1219G>A (p.Val407Ile)
c.1246G>A (p.Val416Ile)
c.1180G>A (p.Val394Ile)
dbSNP gnomAD v2 gnomAD v4
4g.16006540C>ACA356435033PROM1c.1452G>T (p.Met484Ile)
c.*1135G>T (n.*1135G>T)
c.1425G>T (p.Met475Ile)
c.1510G>T
c.1218G>T (p.Met406Ile)
c.1245G>T (p.Met415Ile)
c.1179G>T (p.Met393Ile)
gnomAD v4
4g.16006540C=CA1440916641PROM1c.1452G= (p.Met484=)
c.*1135G= (n.*1135G=)
c.1425G= (p.Met475=)
c.1510G=
c.1218G= (p.Met406=)
c.1245G= (p.Met415=)
c.1179G= (p.Met393=)
4g.16006540C>GCA356435035PROM1c.1452G>C (p.Met484Ile)
c.*1135G>C (n.*1135G>C)
c.1425G>C (p.Met475Ile)
c.1510G>C
c.1218G>C (p.Met406Ile)
c.1245G>C (p.Met415Ile)
c.1179G>C (p.Met393Ile)
4g.16006540C>TCA92594386PROM1c.1452G>A (p.Met484Ile)
c.*1135G>A (n.*1135G>A)
c.1425G>A (p.Met475Ile)
c.1510G>A
c.1218G>A (p.Met406Ile)
c.1245G>A (p.Met415Ile)
c.1179G>A (p.Met393Ile)
dbSNP gnomAD v4
4g.16006541A=CA1440916642PROM1c.1451T= (p.Met484=)
c.*1134T= (n.*1134T=)
c.1424T= (p.Met475=)
c.1509T=
c.1217T= (p.Met406=)
c.1244T= (p.Met415=)
c.1178T= (p.Met393=)
4g.16006541A>CCA356435037PROM1c.1451T>G (p.Met484Arg)
c.*1134T>G (n.*1134T>G)
c.1424T>G (p.Met475Arg)
c.1509T>G
c.1217T>G (p.Met406Arg)
c.1244T>G (p.Met415Arg)
c.1178T>G (p.Met393Arg)
4g.16006541A>GCA356435040PROM1c.1451T>C (p.Met484Thr)
c.*1134T>C (n.*1134T>C)
c.1424T>C (p.Met475Thr)
c.1509T>C
c.1217T>C (p.Met406Thr)
c.1244T>C (p.Met415Thr)
c.1178T>C (p.Met393Thr)
gnomAD v4
4g.16006541A>TCA356435042PROM1c.1451T>A (p.Met484Lys)
c.*1134T>A (n.*1134T>A)
c.1424T>A (p.Met475Lys)
c.1509T>A
c.1217T>A (p.Met406Lys)
c.1244T>A (p.Met415Lys)
c.1178T>A (p.Met393Lys)
dbSNP
4g.16006542T>ACA356435044PROM1c.1450A>T (p.Met484Leu)
c.*1133A>T (n.*1133A>T)
c.1423A>T (p.Met475Leu)
c.1508A>T
c.1216A>T (p.Met406Leu)
c.1243A>T (p.Met415Leu)
c.1177A>T (p.Met393Leu)
4g.16006542T>CCA2866768PROM1c.1450A>G (p.Met484Val)
c.*1133A>G (n.*1133A>G)
c.1423A>G (p.Met475Val)
c.1508A>G
c.1216A>G (p.Met406Val)
c.1243A>G (p.Met415Val)
c.1177A>G (p.Met393Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006542T>GCA356435046PROM1c.1450A>C (p.Met484Leu)
c.*1133A>C (n.*1133A>C)
c.1423A>C (p.Met475Leu)
c.1508A>C
c.1216A>C (p.Met406Leu)
c.1243A>C (p.Met415Leu)
c.1177A>C (p.Met393Leu)
4g.16006542T=CA1440916643PROM1c.1450A= (p.Met484=)
c.*1133A= (n.*1133A=)
c.1423A= (p.Met475=)
c.1508A=
c.1216A= (p.Met406=)
c.1243A= (p.Met415=)
c.1177A= (p.Met393=)
4g.16006543G>ACA438386773PROM1c.1449C>T (p.Leu483=)
c.*1132C>T (n.*1132C>T)
c.1422C>T (p.Leu474=)
c.1507C>T
c.1215C>T (p.Leu405=)
c.1242C>T (p.Leu414=)
c.1176C>T (p.Leu392=)
dbSNP gnomAD v2 gnomAD v4
4g.16006543G>CCA438386774PROM1c.1449C>G (p.Leu483=)
c.*1132C>G (n.*1132C>G)
c.1422C>G (p.Leu474=)
c.1507C>G
c.1215C>G (p.Leu405=)
c.1242C>G (p.Leu414=)
c.1176C>G (p.Leu392=)
4g.16006543G=CA1440916644PROM1c.1449C= (p.Leu483=)
c.*1132C= (n.*1132C=)
c.1422C= (p.Leu474=)
c.1507C=
c.1215C= (p.Leu405=)
c.1242C= (p.Leu414=)
c.1176C= (p.Leu392=)
4g.16006543G>TCA92594389PROM1c.1449C>A (p.Leu483=)
c.*1132C>A (n.*1132C>A)
c.1422C>A (p.Leu474=)
c.1507C>A
c.1215C>A (p.Leu405=)
c.1242C>A (p.Leu414=)
c.1176C>A (p.Leu392=)
dbSNP gnomAD v4
4g.16006544A>CCA356435049PROM1c.1448T>G (p.Leu483Arg)
c.*1131T>G (n.*1131T>G)
c.1421T>G (p.Leu474Arg)
c.1506T>G
c.1214T>G (p.Leu405Arg)
c.1241T>G (p.Leu414Arg)
c.1175T>G (p.Leu392Arg)
4g.16006544A>GCA356435051PROM1c.1448T>C (p.Leu483Pro)
c.*1131T>C (n.*1131T>C)
c.1421T>C (p.Leu474Pro)
c.1506T>C
c.1214T>C (p.Leu405Pro)
c.1241T>C (p.Leu414Pro)
c.1175T>C (p.Leu392Pro)
4g.16006544A>TCA356435053PROM1c.1448T>A (p.Leu483His)
c.*1131T>A (n.*1131T>A)
c.1421T>A (p.Leu474His)
c.1506T>A
c.1214T>A (p.Leu405His)
c.1241T>A (p.Leu414His)
c.1175T>A (p.Leu392His)
4g.16006545G>ACA356435058PROM1c.1447C>T (p.Leu483Phe)
c.*1130C>T (n.*1130C>T)
c.1420C>T (p.Leu474Phe)
c.1505C>T
c.1213C>T (p.Leu405Phe)
c.1240C>T (p.Leu414Phe)
c.1174C>T (p.Leu392Phe)
dbSNP gnomAD v2 gnomAD v4
4g.16006545G>CCA356435060PROM1c.1447C>G (p.Leu483Val)
c.*1130C>G (n.*1130C>G)
c.1420C>G (p.Leu474Val)
c.1505C>G
c.1213C>G (p.Leu405Val)
c.1240C>G (p.Leu414Val)
c.1174C>G (p.Leu392Val)
gnomAD v4
4g.16006545G=CA1440916645PROM1c.1447C= (p.Leu483=)
c.*1130C= (n.*1130C=)
c.1420C= (p.Leu474=)
c.1505C=
c.1213C= (p.Leu405=)
c.1240C= (p.Leu414=)
c.1174C= (p.Leu392=)
4g.16006545G>TCA356435056PROM1c.1447C>A (p.Leu483Ile)
c.*1130C>A (n.*1130C>A)
c.1420C>A (p.Leu474Ile)
c.1505C>A
c.1213C>A (p.Leu405Ile)
c.1240C>A (p.Leu414Ile)
c.1174C>A (p.Leu392Ile)
4g.16006546G>ACA438386776PROM1c.1446C>T (p.Phe482=)
c.*1129C>T (n.*1129C>T)
c.1419C>T (p.Phe473=)
c.1504C>T
c.1212C>T (p.Phe404=)
c.1239C>T (p.Phe413=)
c.1173C>T (p.Phe391=)
COSMIC COSMIC
4g.16006546G>CCA356435062PROM1c.1446C>G (p.Phe482Leu)
c.*1129C>G (n.*1129C>G)
c.1419C>G (p.Phe473Leu)
c.1504C>G
c.1212C>G (p.Phe404Leu)
c.1239C>G (p.Phe413Leu)
c.1173C>G (p.Phe391Leu)
gnomAD v4
4g.16006546G>TCA356435064PROM1c.1446C>A (p.Phe482Leu)
c.*1129C>A (n.*1129C>A)
c.1419C>A (p.Phe473Leu)
c.1504C>A
c.1212C>A (p.Phe404Leu)
c.1239C>A (p.Phe413Leu)
c.1173C>A (p.Phe391Leu)
4g.16006547A=CA1440916647PROM1c.1445T= (p.Phe482=)
c.*1128T= (n.*1128T=)
c.1418T= (p.Phe473=)
c.1503T=
c.1211T= (p.Phe404=)
c.1238T= (p.Phe413=)
c.1172T= (p.Phe391=)
4g.16006547A>CCA92594396PROM1c.1445T>G (p.Phe482Cys)
c.*1128T>G (n.*1128T>G)
c.1418T>G (p.Phe473Cys)
c.1503T>G
c.1211T>G (p.Phe404Cys)
c.1238T>G (p.Phe413Cys)
c.1172T>G (p.Phe391Cys)
dbSNP gnomAD v3 gnomAD v4
4g.16006547A>GCA356435068PROM1c.1445T>C (p.Phe482Ser)
c.*1128T>C (n.*1128T>C)
c.1418T>C (p.Phe473Ser)
c.1503T>C
c.1211T>C (p.Phe404Ser)
c.1238T>C (p.Phe413Ser)
c.1172T>C (p.Phe391Ser)
gnomAD v4
4g.16006547A>TCA356435071PROM1c.1445T>A (p.Phe482Tyr)
c.*1128T>A (n.*1128T>A)
c.1418T>A (p.Phe473Tyr)
c.1503T>A
c.1211T>A (p.Phe404Tyr)
c.1238T>A (p.Phe413Tyr)
c.1172T>A (p.Phe391Tyr)
4g.16006548dupCA2586973706PROM1c.1445dup (p.Leu483ProfsTer?)
c.*1128dup (n.*1128dup)
c.1418dup (p.Leu474ProfsTer?)
c.1503dup
c.1211dup (p.Leu405ProfsTer?)
c.1238dup (p.Leu414ProfsTer?)
c.1172dup (p.Leu392ProfsTer?)
4g.16006547_16006565delinsAAGACGCCTCCGGTGTTGGCA1440916646PROM1c.1427_1445delinsCCAACACCGGAGGCGTCTT (p.Ser476=)
c.*1110_*1128delinsCCAACACCGGAGGCGTCTT (n.*1110_*1128delinsCCAACACCGGAGGCGTCTT)
c.1400_1418delinsCCAACACCGGAGGCGTCTT (p.Ser467=)
c.1485_1503delinsCCAACACCGGAGGCGTCTT
c.1193_1211delinsCCAACACCGGAGGCGTCTT (p.Ser398=)
c.1220_1238delinsCCAACACCGGAGGCGTCTT (p.Ser407=)
c.1154_1172delinsCCAACACCGGAGGCGTCTT (p.Ser385=)
4g.16006548A=CA1440916648PROM1c.1444T= (p.Phe482=)
c.*1127T= (n.*1127T=)
c.1417T= (p.Phe473=)
c.1502T=
c.1210T= (p.Phe404=)
c.1237T= (p.Phe413=)
c.1171T= (p.Phe391=)
4g.16006548A>CCA2866769PROM1c.1444T>G (p.Phe482Val)
c.*1127T>G (n.*1127T>G)
c.1417T>G (p.Phe473Val)
c.1502T>G
c.1210T>G (p.Phe404Val)
c.1237T>G (p.Phe413Val)
c.1171T>G (p.Phe391Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006548A>GCA356435073PROM1c.1444T>C (p.Phe482Leu)
c.*1127T>C (n.*1127T>C)
c.1417T>C (p.Phe473Leu)
c.1502T>C
c.1210T>C (p.Phe404Leu)
c.1237T>C (p.Phe413Leu)
c.1171T>C (p.Phe391Leu)
dbSNP gnomAD v2 gnomAD v4
4g.16006548A>TCA356435076PROM1c.1444T>A (p.Phe482Ile)
c.*1127T>A (n.*1127T>A)
c.1417T>A (p.Phe473Ile)
c.1502T>A
c.1210T>A (p.Phe404Ile)
c.1237T>A (p.Phe413Ile)
c.1171T>A (p.Phe391Ile)
gnomAD v4
4g.16006552_16006569delCA1440916649PROM1c.1427_1444del (p.Ser476_Val481del)
c.*1110_*1127del (n.*1110_*1127del)
c.1400_1417del (p.Ser467_Val472del)
c.1485_1502del
c.1193_1210del (p.Ser398_Val403del)
c.1220_1237del (p.Ser407_Val412del)
c.1154_1171del (p.Ser385_Val390del)
dbSNP
4g.16006549G>ACA438386778PROM1c.1443C>T (p.Val481=)
c.*1126C>T (n.*1126C>T)
c.1416C>T (p.Val472=)
c.1501C>T
c.1209C>T (p.Val403=)
c.1236C>T (p.Val412=)
c.1170C>T (p.Val390=)
4g.16006549G>CCA438386779PROM1c.1443C>G (p.Val481=)
c.*1126C>G (n.*1126C>G)
c.1416C>G (p.Val472=)
c.1501C>G
c.1209C>G (p.Val403=)
c.1236C>G (p.Val412=)
c.1170C>G (p.Val390=)
dbSNP
4g.16006549G>TCA438386780PROM1c.1443C>A (p.Val481=)
c.*1126C>A (n.*1126C>A)
c.1416C>A (p.Val472=)
c.1501C>A
c.1209C>A (p.Val403=)
c.1236C>A (p.Val412=)
c.1170C>A (p.Val390=)
4g.16006550A>CCA356435079PROM1c.1442T>G (p.Val481Gly)
c.*1125T>G (n.*1125T>G)
c.1415T>G (p.Val472Gly)
c.1500T>G
c.1208T>G (p.Val403Gly)
c.1235T>G (p.Val412Gly)
c.1169T>G (p.Val390Gly)
4g.16006550A>GCA356435081PROM1c.1442T>C (p.Val481Ala)
c.*1125T>C (n.*1125T>C)
c.1415T>C (p.Val472Ala)
c.1500T>C
c.1208T>C (p.Val403Ala)
c.1235T>C (p.Val412Ala)
c.1169T>C (p.Val390Ala)
4g.16006550A>TCA356435083PROM1c.1442T>A (p.Val481Asp)
c.*1125T>A (n.*1125T>A)
c.1415T>A (p.Val472Asp)
c.1500T>A
c.1208T>A (p.Val403Asp)
c.1235T>A (p.Val412Asp)
c.1169T>A (p.Val390Asp)
4g.16006551C>ACA356435085PROM1c.1441G>T (p.Val481Phe)
c.*1124G>T (n.*1124G>T)
c.1414G>T (p.Val472Phe)
c.1499G>T
c.1207G>T (p.Val403Phe)
c.1234G>T (p.Val412Phe)
c.1168G>T (p.Val390Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.16006551C=CA1440916650PROM1c.1441G= (p.Val481=)
c.*1124G= (n.*1124G=)
c.1414G= (p.Val472=)
c.1499G=
c.1207G= (p.Val403=)
c.1234G= (p.Val412=)
c.1168G= (p.Val390=)
4g.16006551C>GCA356435086PROM1c.1441G>C (p.Val481Leu)
c.*1124G>C (n.*1124G>C)
c.1414G>C (p.Val472Leu)
c.1499G>C
c.1207G>C (p.Val403Leu)
c.1234G>C (p.Val412Leu)
c.1168G>C (p.Val390Leu)
4g.16006551C>TCA92594415PROM1c.1441G>A (p.Val481Ile)
c.*1124G>A (n.*1124G>A)
c.1414G>A (p.Val472Ile)
c.1499G>A
c.1207G>A (p.Val403Ile)
c.1234G>A (p.Val412Ile)
c.1168G>A (p.Val390Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.16006552G>ACA2866770PROM1c.1440C>T (p.Gly480=)
c.*1123C>T (n.*1123C>T)
c.1413C>T (p.Gly471=)
c.1498C>T
c.1206C>T (p.Gly402=)
c.1233C>T (p.Gly411=)
c.1167C>T (p.Gly389=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006552G>CCA438386785PROM1c.1440C>G (p.Gly480=)
c.*1123C>G (n.*1123C>G)
c.1413C>G (p.Gly471=)
c.1498C>G
c.1206C>G (p.Gly402=)
c.1233C>G (p.Gly411=)
c.1167C>G (p.Gly389=)
dbSNP gnomAD v2 gnomAD v4
4g.16006552G=CA1440916651PROM1c.1440C= (p.Gly480=)
c.*1123C= (n.*1123C=)
c.1413C= (p.Gly471=)
c.1498C=
c.1206C= (p.Gly402=)
c.1233C= (p.Gly411=)
c.1167C= (p.Gly389=)
4g.16006552G>TCA438386786PROM1c.1440C>A (p.Gly480=)
c.*1123C>A (n.*1123C>A)
c.1413C>A (p.Gly471=)
c.1498C>A
c.1206C>A (p.Gly402=)
c.1233C>A (p.Gly411=)
c.1167C>A (p.Gly389=)
gnomAD v4
4g.16006553C>ACA356435089PROM1c.1439G>T (p.Gly480Val)
c.*1122G>T (n.*1122G>T)
c.1412G>T (p.Gly471Val)
c.1497G>T
c.1205G>T (p.Gly402Val)
c.1232G>T (p.Gly411Val)
c.1166G>T (p.Gly389Val)
gnomAD v4
4g.16006553C>GCA356435088PROM1c.1439G>C (p.Gly480Ala)
c.*1122G>C (n.*1122G>C)
c.1412G>C (p.Gly471Ala)
c.1497G>C
c.1205G>C (p.Gly402Ala)
c.1232G>C (p.Gly411Ala)
c.1166G>C (p.Gly389Ala)
4g.16006553C>TCA356435091PROM1c.1439G>A (p.Gly480Asp)
c.*1122G>A (n.*1122G>A)
c.1412G>A (p.Gly471Asp)
c.1497G>A
c.1205G>A (p.Gly402Asp)
c.1232G>A (p.Gly411Asp)
c.1166G>A (p.Gly389Asp)
4g.16006554C>ACA356435094PROM1c.1438G>T (p.Gly480Cys)
c.*1121G>T (n.*1121G>T)
c.1411G>T (p.Gly471Cys)
c.1496G>T
c.1204G>T (p.Gly402Cys)
c.1231G>T (p.Gly411Cys)
c.1165G>T (p.Gly389Cys)
gnomAD v4
4g.16006554C=CA1440916652PROM1c.1438G= (p.Gly480=)
c.*1121G= (n.*1121G=)
c.1411G= (p.Gly471=)
c.1496G=
c.1204G= (p.Gly402=)
c.1231G= (p.Gly411=)
c.1165G= (p.Gly389=)
4g.16006554C>GCA356435098PROM1c.1438G>C (p.Gly480Arg)
c.*1121G>C (n.*1121G>C)
c.1411G>C (p.Gly471Arg)
c.1496G>C
c.1204G>C (p.Gly402Arg)
c.1231G>C (p.Gly411Arg)
c.1165G>C (p.Gly389Arg)
4g.16006554C>TCA2866771PROM1c.1438G>A (p.Gly480Ser)
c.*1121G>A (n.*1121G>A)
c.1411G>A (p.Gly471Ser)
c.1496G>A
c.1204G>A (p.Gly402Ser)
c.1231G>A (p.Gly411Ser)
c.1165G>A (p.Gly389Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006555T>ACA438386788PROM1c.1437A>T (p.Gly479=)
c.*1120A>T (n.*1120A>T)
c.1410A>T (p.Gly470=)
c.1495A>T
c.1203A>T (p.Gly401=)
c.1230A>T (p.Gly410=)
c.1164A>T (p.Gly388=)
4g.16006555T>CCA438386789PROM1c.1437A>G (p.Gly479=)
c.*1120A>G (n.*1120A>G)
c.1410A>G (p.Gly470=)
c.1495A>G
c.1203A>G (p.Gly401=)
c.1230A>G (p.Gly410=)
c.1164A>G (p.Gly388=)
gnomAD v4
4g.16006555T>GCA438386792PROM1c.1437A>C (p.Gly479=)
c.*1120A>C (n.*1120A>C)
c.1410A>C (p.Gly470=)
c.1495A>C
c.1203A>C (p.Gly401=)
c.1230A>C (p.Gly410=)
c.1164A>C (p.Gly388=)
gnomAD v4
4g.16006556C>ACA356435099PROM1c.1436G>T (p.Gly479Val)
c.*1119G>T (n.*1119G>T)
c.1409G>T (p.Gly470Val)
c.1494G>T
c.1202G>T (p.Gly401Val)
c.1229G>T (p.Gly410Val)
c.1163G>T (p.Gly388Val)
gnomAD v4
4g.16006556C>GCA356435101PROM1c.1436G>C (p.Gly479Ala)
c.*1119G>C (n.*1119G>C)
c.1409G>C (p.Gly470Ala)
c.1494G>C
c.1202G>C (p.Gly401Ala)
c.1229G>C (p.Gly410Ala)
c.1163G>C (p.Gly388Ala)
4g.16006556C>TCA356435103PROM1c.1436G>A (p.Gly479Glu)
c.*1119G>A (n.*1119G>A)
c.1409G>A (p.Gly470Glu)
c.1494G>A
c.1202G>A (p.Gly401Glu)
c.1229G>A (p.Gly410Glu)
c.1163G>A (p.Gly388Glu)
4g.16006557C>ACA356435105PROM1c.1435G>T (p.Gly479Ter)
c.*1118G>T (n.*1118G>T)
c.1408G>T (p.Gly470Ter)
c.1493G>T
c.1201G>T (p.Gly401Ter)
c.1228G>T (p.Gly410Ter)
c.1162G>T (p.Gly388Ter)
gnomAD v4
4g.16006557C=CA1440916653PROM1c.1435G= (p.Gly479=)
c.*1118G= (n.*1118G=)
c.1408G= (p.Gly470=)
c.1493G=
c.1201G= (p.Gly401=)
c.1228G= (p.Gly410=)
c.1162G= (p.Gly388=)
4g.16006557C>GCA356435107PROM1c.1435G>C (p.Gly479Arg)
c.*1118G>C (n.*1118G>C)
c.1408G>C (p.Gly470Arg)
c.1493G>C
c.1201G>C (p.Gly401Arg)
c.1228G>C (p.Gly410Arg)
c.1162G>C (p.Gly388Arg)
4g.16006557C>TCA2866772PROM1c.1435G>A (p.Gly479Arg)
c.*1118G>A (n.*1118G>A)
c.1408G>A (p.Gly470Arg)
c.1493G>A
c.1201G>A (p.Gly401Arg)
c.1228G>A (p.Gly410Arg)
c.1162G>A (p.Gly388Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006558G>ACA2866773PROM1c.1434C>T (p.Thr478=)
c.*1117C>T (n.*1117C>T)
c.1407C>T (p.Thr469=)
c.1492C>T
c.1200C>T (p.Thr400=)
c.1227C>T (p.Thr409=)
c.1161C>T (p.Thr387=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006558G>CCA438386794PROM1c.1434C>G (p.Thr478=)
c.*1117C>G (n.*1117C>G)
c.1407C>G (p.Thr469=)
c.1492C>G
c.1200C>G (p.Thr400=)
c.1227C>G (p.Thr409=)
c.1161C>G (p.Thr387=)
4g.16006558G=CA1440916654PROM1c.1434C= (p.Thr478=)
c.*1117C= (n.*1117C=)
c.1407C= (p.Thr469=)
c.1492C=
c.1200C= (p.Thr400=)
c.1227C= (p.Thr409=)
c.1161C= (p.Thr387=)
4g.16006558G>TCA438386795PROM1c.1434C>A (p.Thr478=)
c.*1117C>A (n.*1117C>A)
c.1407C>A (p.Thr469=)
c.1492C>A
c.1200C>A (p.Thr400=)
c.1227C>A (p.Thr409=)
c.1161C>A (p.Thr387=)
gnomAD v4
4g.16006559dupCA2670099964PROM1c.1434dup (p.Gly479ArgfsTer?)
c.*1117dup (n.*1117dup)
c.1407dup (p.Gly470ArgfsTer?)
c.1492dup
c.1200dup (p.Gly401ArgfsTer?)
c.1227dup (p.Gly410ArgfsTer?)
c.1161dup (p.Gly388ArgfsTer?)
gnomAD v4
4g.16006559G>ACA356435111PROM1c.1433C>T (p.Thr478Ile)
c.*1116C>T (n.*1116C>T)
c.1406C>T (p.Thr469Ile)
c.1491C>T
c.1199C>T (p.Thr400Ile)
c.1226C>T (p.Thr409Ile)
c.1160C>T (p.Thr387Ile)
gnomAD v4
4g.16006559G>CCA356435114PROM1c.1433C>G (p.Thr478Ser)
c.*1116C>G (n.*1116C>G)
c.1406C>G (p.Thr469Ser)
c.1491C>G
c.1199C>G (p.Thr400Ser)
c.1226C>G (p.Thr409Ser)
c.1160C>G (p.Thr387Ser)
4g.16006559G>TCA356435116PROM1c.1433C>A (p.Thr478Asn)
c.*1116C>A (n.*1116C>A)
c.1406C>A (p.Thr469Asn)
c.1491C>A
c.1199C>A (p.Thr400Asn)
c.1226C>A (p.Thr409Asn)
c.1160C>A (p.Thr387Asn)
gnomAD v4
4g.16006560T>ACA356435123PROM1c.1432A>T (p.Thr478Ser)
c.*1115A>T (n.*1115A>T)
c.1405A>T (p.Thr469Ser)
c.1490A>T
c.1198A>T (p.Thr400Ser)
c.1225A>T (p.Thr409Ser)
c.1159A>T (p.Thr387Ser)
4g.16006560T>CCA356435121PROM1c.1432A>G (p.Thr478Ala)
c.*1115A>G (n.*1115A>G)
c.1405A>G (p.Thr469Ala)
c.1490A>G
c.1198A>G (p.Thr400Ala)
c.1225A>G (p.Thr409Ala)
c.1159A>G (p.Thr387Ala)
4g.16006560T>GCA356435120PROM1c.1432A>C (p.Thr478Pro)
c.*1115A>C (n.*1115A>C)
c.1405A>C (p.Thr469Pro)
c.1490A>C
c.1198A>C (p.Thr400Pro)
c.1225A>C (p.Thr409Pro)
c.1159A>C (p.Thr387Pro)
gnomAD v4
4g.16006561G>ACA438386796PROM1c.1431C>T (p.Asn477=)
c.*1114C>T (n.*1114C>T)
c.1404C>T (p.Asn468=)
c.1489C>T
c.1197C>T (p.Asn399=)
c.1224C>T (p.Asn408=)
c.1158C>T (p.Asn386=)
gnomAD v4
4g.16006561G>CCA356435125PROM1c.1431C>G (p.Asn477Lys)
c.*1114C>G (n.*1114C>G)
c.1404C>G (p.Asn468Lys)
c.1489C>G
c.1197C>G (p.Asn399Lys)
c.1224C>G (p.Asn408Lys)
c.1158C>G (p.Asn386Lys)
4g.16006561G>TCA356435127PROM1c.1431C>A (p.Asn477Lys)
c.*1114C>A (n.*1114C>A)
c.1404C>A (p.Asn468Lys)
c.1489C>A
c.1197C>A (p.Asn399Lys)
c.1224C>A (p.Asn408Lys)
c.1158C>A (p.Asn386Lys)
gnomAD v4
4g.16006562T>ACA356435129PROM1c.1430A>T (p.Asn477Ile)
c.*1113A>T (n.*1113A>T)
c.1403A>T (p.Asn468Ile)
c.1488A>T
c.1196A>T (p.Asn399Ile)
c.1223A>T (p.Asn408Ile)
c.1157A>T (p.Asn386Ile)
4g.16006562T>CCA356435131PROM1c.1430A>G (p.Asn477Ser)
c.*1113A>G (n.*1113A>G)
c.1403A>G (p.Asn468Ser)
c.1488A>G
c.1196A>G (p.Asn399Ser)
c.1223A>G (p.Asn408Ser)
c.1157A>G (p.Asn386Ser)
dbSNP gnomAD v2 gnomAD v4
4g.16006562T>GCA356435133PROM1c.1430A>C (p.Asn477Thr)
c.*1113A>C (n.*1113A>C)
c.1403A>C (p.Asn468Thr)
c.1488A>C
c.1196A>C (p.Asn399Thr)
c.1223A>C (p.Asn408Thr)
c.1157A>C (p.Asn386Thr)
4g.16006562T=CA1440916655PROM1c.1430A= (p.Asn477=)
c.*1113A= (n.*1113A=)
c.1403A= (p.Asn468=)
c.1488A=
c.1196A= (p.Asn399=)
c.1223A= (p.Asn408=)
c.1157A= (p.Asn386=)
4g.16006563T>ACA356435135PROM1c.1429A>T (p.Asn477Tyr)
c.*1112A>T (n.*1112A>T)
c.1402A>T (p.Asn468Tyr)
c.1487A>T
c.1195A>T (p.Asn399Tyr)
c.1222A>T (p.Asn408Tyr)
c.1156A>T (p.Asn386Tyr)
4g.16006563T>CCA356435137PROM1c.1429A>G (p.Asn477Asp)
c.*1112A>G (n.*1112A>G)
c.1402A>G (p.Asn468Asp)
c.1487A>G
c.1195A>G (p.Asn399Asp)
c.1222A>G (p.Asn408Asp)
c.1156A>G (p.Asn386Asp)
4g.16006563T>GCA356435139PROM1c.1429A>C (p.Asn477His)
c.*1112A>C (n.*1112A>C)
c.1402A>C (p.Asn468His)
c.1487A>C
c.1195A>C (p.Asn399His)
c.1222A>C (p.Asn408His)
c.1156A>C (p.Asn386His)
4g.16006564G>ACA438386800PROM1c.1428C>T (p.Ser476=)
c.*1111C>T (n.*1111C>T)
c.1401C>T (p.Ser467=)
c.1486C>T
c.1194C>T (p.Ser398=)
c.1221C>T (p.Ser407=)
c.1155C>T (p.Ser385=)
4g.16006564G>CCA438386798PROM1c.1428C>G (p.Ser476=)
c.*1111C>G (n.*1111C>G)
c.1401C>G (p.Ser467=)
c.1486C>G
c.1194C>G (p.Ser398=)
c.1221C>G (p.Ser407=)
c.1155C>G (p.Ser385=)
4g.16006564G>TCA438386799PROM1c.1428C>A (p.Ser476=)
c.*1111C>A (n.*1111C>A)
c.1401C>A (p.Ser467=)
c.1486C>A
c.1194C>A (p.Ser398=)
c.1221C>A (p.Ser407=)
c.1155C>A (p.Ser385=)
4g.16006565G>ACA356435142PROM1c.1427C>T (p.Ser476Phe)
c.*1110C>T (n.*1110C>T)
c.1400C>T (p.Ser467Phe)
c.1485C>T
c.1193C>T (p.Ser398Phe)
c.1220C>T (p.Ser407Phe)
c.1154C>T (p.Ser385Phe)
dbSNP gnomAD v2
4g.16006565G>CCA356435143PROM1c.1427C>G (p.Ser476Cys)
c.*1110C>G (n.*1110C>G)
c.1400C>G (p.Ser467Cys)
c.1485C>G
c.1193C>G (p.Ser398Cys)
c.1220C>G (p.Ser407Cys)
c.1154C>G (p.Ser385Cys)
4g.16006565G=CA1440916656PROM1c.1427C= (p.Ser476=)
c.*1110C= (n.*1110C=)
c.1400C= (p.Ser467=)
c.1485C=
c.1193C= (p.Ser398=)
c.1220C= (p.Ser407=)
c.1154C= (p.Ser385=)
4g.16006565G>TCA356435145PROM1c.1427C>A (p.Ser476Tyr)
c.*1110C>A (n.*1110C>A)
c.1400C>A (p.Ser467Tyr)
c.1485C>A
c.1193C>A (p.Ser398Tyr)
c.1220C>A (p.Ser407Tyr)
c.1154C>A (p.Ser385Tyr)
gnomAD v4
4g.16006566A>CCA356435149PROM1c.1426T>G (p.Ser476Ala)
c.*1109T>G (n.*1109T>G)
c.1399T>G (p.Ser467Ala)
c.1484T>G
c.1192T>G (p.Ser398Ala)
c.1219T>G (p.Ser407Ala)
c.1153T>G (p.Ser385Ala)
4g.16006566A>GCA356435150PROM1c.1426T>C (p.Ser476Pro)
c.*1109T>C (n.*1109T>C)
c.1399T>C (p.Ser467Pro)
c.1484T>C
c.1192T>C (p.Ser398Pro)
c.1219T>C (p.Ser407Pro)
c.1153T>C (p.Ser385Pro)
4g.16006566A>TCA356435147PROM1c.1426T>A (p.Ser476Thr)
c.*1109T>A (n.*1109T>A)
c.1399T>A (p.Ser467Thr)
c.1484T>A
c.1192T>A (p.Ser398Thr)
c.1219T>A (p.Ser407Thr)
c.1153T>A (p.Ser385Thr)
4g.16006567G>ACA438386803PROM1c.1425C>T (p.Val475=)
c.*1108C>T (n.*1108C>T)
c.1398C>T (p.Val466=)
c.1483C>T
c.1191C>T (p.Val397=)
c.1218C>T (p.Val406=)
c.1152C>T (p.Val384=)
4g.16006567G>CCA438386804PROM1c.1425C>G (p.Val475=)
c.*1108C>G (n.*1108C>G)
c.1398C>G (p.Val466=)
c.1483C>G
c.1191C>G (p.Val397=)
c.1218C>G (p.Val406=)
c.1152C>G (p.Val384=)
4g.16006567G>TCA438386805PROM1c.1425C>A (p.Val475=)
c.*1108C>A (n.*1108C>A)
c.1398C>A (p.Val466=)
c.1483C>A
c.1191C>A (p.Val397=)
c.1218C>A (p.Val406=)
c.1152C>A (p.Val384=)
gnomAD v4
4g.16006567_16006569delinsGACCA1440916657PROM1c.1423_1425delinsGTC (p.Val475=)
c.*1106_*1108delinsGTC (n.*1106_*1108delinsGTC)
c.1396_1398delinsGTC (p.Val466=)
c.1481_1483delinsGTC
c.1189_1191delinsGTC (p.Val397=)
c.1216_1218delinsGTC (p.Val406=)
c.1150_1152delinsGTC (p.Val384=)
4g.16006568A>CCA356435153PROM1c.1424T>G (p.Val475Gly)
c.*1107T>G (n.*1107T>G)
c.1397T>G (p.Val466Gly)
c.1482T>G
c.1190T>G (p.Val397Gly)
c.1217T>G (p.Val406Gly)
c.1151T>G (p.Val384Gly)
4g.16006568A>GCA356435154PROM1c.1424T>C (p.Val475Ala)
c.*1107T>C (n.*1107T>C)
c.1397T>C (p.Val466Ala)
c.1482T>C
c.1190T>C (p.Val397Ala)
c.1217T>C (p.Val406Ala)
c.1151T>C (p.Val384Ala)
4g.16006568A>TCA356435156PROM1c.1424T>A (p.Val475Asp)
c.*1107T>A (n.*1107T>A)
c.1397T>A (p.Val466Asp)
c.1482T>A
c.1190T>A (p.Val397Asp)
c.1217T>A (p.Val406Asp)
c.1151T>A (p.Val384Asp)
ClinVar dbSNP
4g.16006571_16006572delCA789850355PROM1c.1423_1424del (p.Val475LeufsTer?)
c.*1106_*1107del (n.*1106_*1107del)
c.1396_1397del (p.Val466LeufsTer?)
c.1481_1482del
c.1189_1190del (p.Val397LeufsTer?)
c.1216_1217del (p.Val406LeufsTer?)
c.1150_1151del (p.Val384LeufsTer?)
ClinVar dbSNP gnomAD v4
4g.16006569C>ACA356435158PROM1c.1423G>T (p.Val475Phe)
c.*1106G>T (n.*1106G>T)
c.1396G>T (p.Val466Phe)
c.1481G>T
c.1189G>T (p.Val397Phe)
c.1216G>T (p.Val406Phe)
c.1150G>T (p.Val384Phe)
gnomAD v4 COSMIC COSMIC
4g.16006569C>GCA356435160PROM1c.1423G>C (p.Val475Leu)
c.*1106G>C (n.*1106G>C)
c.1396G>C (p.Val466Leu)
c.1481G>C
c.1189G>C (p.Val397Leu)
c.1216G>C (p.Val406Leu)
c.1150G>C (p.Val384Leu)
gnomAD v4
4g.16006569C>TCA356435161PROM1c.1423G>A (p.Val475Ile)
c.*1106G>A (n.*1106G>A)
c.1396G>A (p.Val466Ile)
c.1481G>A
c.1189G>A (p.Val397Ile)
c.1216G>A (p.Val406Ile)
c.1150G>A (p.Val384Ile)
4g.16006570A=CA1440916658PROM1c.1422T= (p.Cys474=)
c.*1105T= (n.*1105T=)
c.1395T= (p.Cys465=)
c.1480T=
c.1188T= (p.Cys396=)
c.1215T= (p.Cys405=)
c.1149T= (p.Cys383=)
4g.16006570A>CCA92594446PROM1c.1422T>G (p.Cys474Trp)
c.*1105T>G (n.*1105T>G)
c.1395T>G (p.Cys465Trp)
c.1480T>G
c.1188T>G (p.Cys396Trp)
c.1215T>G (p.Cys405Trp)
c.1149T>G (p.Cys383Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.16006570A>GCA438386808PROM1c.1422T>C (p.Cys474=)
c.*1105T>C (n.*1105T>C)
c.1395T>C (p.Cys465=)
c.1480T>C
c.1188T>C (p.Cys396=)
c.1215T>C (p.Cys405=)
c.1149T>C (p.Cys383=)
ClinVar
4g.16006570A>TCA356435163PROM1c.1422T>A (p.Cys474Ter)
c.*1105T>A (n.*1105T>A)
c.1395T>A (p.Cys465Ter)
c.1480T>A
c.1188T>A (p.Cys396Ter)
c.1215T>A (p.Cys405Ter)
c.1149T>A (p.Cys383Ter)
4g.16006571C>ACA356435168PROM1c.1421G>T (p.Cys474Phe)
c.*1104G>T (n.*1104G>T)
c.1394G>T (p.Cys465Phe)
c.1479G>T
c.1187G>T (p.Cys396Phe)
c.1214G>T (p.Cys405Phe)
c.1148G>T (p.Cys383Phe)
gnomAD v4
4g.16006571C=CA1440916659PROM1c.1421G= (p.Cys474=)
c.*1104G= (n.*1104G=)
c.1394G= (p.Cys465=)
c.1479G=
c.1187G= (p.Cys396=)
c.1214G= (p.Cys405=)
c.1148G= (p.Cys383=)
4g.16006571C>GCA356435170PROM1c.1421G>C (p.Cys474Ser)
c.*1104G>C (n.*1104G>C)
c.1394G>C (p.Cys465Ser)
c.1479G>C
c.1187G>C (p.Cys396Ser)
c.1214G>C (p.Cys405Ser)
c.1148G>C (p.Cys383Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.16006571C>TCA356435172PROM1c.1421G>A (p.Cys474Tyr)
c.*1104G>A (n.*1104G>A)
c.1394G>A (p.Cys465Tyr)
c.1479G>A
c.1187G>A (p.Cys396Tyr)
c.1214G>A (p.Cys405Tyr)
c.1148G>A (p.Cys383Tyr)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.16006572A=CA1440916660PROM1c.1420T= (p.Cys474=)
c.*1103T= (n.*1103T=)
c.1393T= (p.Cys465=)
c.1478T=
c.1186T= (p.Cys396=)
c.1213T= (p.Cys405=)
c.1147T= (p.Cys383=)
4g.16006572A>CCA356435174PROM1c.1420T>G (p.Cys474Gly)
c.*1103T>G (n.*1103T>G)
c.1393T>G (p.Cys465Gly)
c.1478T>G
c.1186T>G (p.Cys396Gly)
c.1213T>G (p.Cys405Gly)
c.1147T>G (p.Cys383Gly)
4g.16006572A>GCA356435176PROM1c.1420T>C (p.Cys474Arg)
c.*1103T>C (n.*1103T>C)
c.1393T>C (p.Cys465Arg)
c.1478T>C
c.1186T>C (p.Cys396Arg)
c.1213T>C (p.Cys405Arg)
c.1147T>C (p.Cys383Arg)
dbSNP gnomAD v2
4g.16006572A>TCA356435178PROM1c.1420T>A (p.Cys474Ser)
c.*1103T>A (n.*1103T>A)
c.1393T>A (p.Cys465Ser)
c.1478T>A
c.1186T>A (p.Cys396Ser)
c.1213T>A (p.Cys405Ser)
c.1147T>A (p.Cys383Ser)
4g.16006573G>ACA438386810PROM1c.1419C>T (p.Gly473=)
c.*1102C>T (n.*1102C>T)
c.1392C>T (p.Gly464=)
c.1477C>T
c.1185C>T (p.Gly395=)
c.1212C>T (p.Gly404=)
c.1146C>T (p.Gly382=)
4g.16006573G>CCA438386812PROM1c.1419C>G (p.Gly473=)
c.*1102C>G (n.*1102C>G)
c.1392C>G (p.Gly464=)
c.1477C>G
c.1185C>G (p.Gly395=)
c.1212C>G (p.Gly404=)
c.1146C>G (p.Gly382=)
4g.16006573G>TCA438386813PROM1c.1419C>A (p.Gly473=)
c.*1102C>A (n.*1102C>A)
c.1392C>A (p.Gly464=)
c.1477C>A
c.1185C>A (p.Gly395=)
c.1212C>A (p.Gly404=)
c.1146C>A (p.Gly382=)
4g.16006574C>ACA356435180PROM1c.1418G>T (p.Gly473Val)
c.*1101G>T (n.*1101G>T)
c.1391G>T (p.Gly464Val)
c.1476G>T
c.1184G>T (p.Gly395Val)
c.1211G>T (p.Gly404Val)
c.1145G>T (p.Gly382Val)
dbSNP gnomAD v4
4g.16006574C=CA1440916661PROM1c.1418G= (p.Gly473=)
c.*1101G= (n.*1101G=)
c.1391G= (p.Gly464=)
c.1476G=
c.1184G= (p.Gly395=)
c.1211G= (p.Gly404=)
c.1145G= (p.Gly382=)
4g.16006574C>GCA356435183PROM1c.1418G>C (p.Gly473Ala)
c.*1101G>C (n.*1101G>C)
c.1391G>C (p.Gly464Ala)
c.1476G>C
c.1184G>C (p.Gly395Ala)
c.1211G>C (p.Gly404Ala)
c.1145G>C (p.Gly382Ala)
4g.16006574C>TCA356435181PROM1c.1418G>A (p.Gly473Asp)
c.*1101G>A (n.*1101G>A)
c.1391G>A (p.Gly464Asp)
c.1476G>A
c.1184G>A (p.Gly395Asp)
c.1211G>A (p.Gly404Asp)
c.1145G>A (p.Gly382Asp)
4g.16006575C>ACA356435185PROM1c.1417G>T (p.Gly473Cys)
c.*1100G>T (n.*1100G>T)
c.1390G>T (p.Gly464Cys)
c.1475G>T
c.1183G>T (p.Gly395Cys)
c.1210G>T (p.Gly404Cys)
c.1144G>T (p.Gly382Cys)
4g.16006575C=CA1440916662PROM1c.1417G= (p.Gly473=)
c.*1100G= (n.*1100G=)
c.1390G= (p.Gly464=)
c.1475G=
c.1183G= (p.Gly395=)
c.1210G= (p.Gly404=)
c.1144G= (p.Gly382=)
4g.16006575C>GCA356435187PROM1c.1417G>C (p.Gly473Arg)
c.*1100G>C (n.*1100G>C)
c.1390G>C (p.Gly464Arg)
c.1475G>C
c.1183G>C (p.Gly395Arg)
c.1210G>C (p.Gly404Arg)
c.1144G>C (p.Gly382Arg)
4g.16006575C>TCA2866774PROM1c.1417G>A (p.Gly473Ser)
c.*1100G>A (n.*1100G>A)
c.1390G>A (p.Gly464Ser)
c.1475G>A
c.1183G>A (p.Gly395Ser)
c.1210G>A (p.Gly404Ser)
c.1144G>A (p.Gly382Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006576T>ACA438386816PROM1c.1416A>T (p.Arg472=)
c.*1099A>T (n.*1099A>T)
c.1389A>T (p.Arg463=)
c.1474A>T
c.1182A>T (p.Arg394=)
c.1209A>T (p.Arg403=)
c.1143A>T (p.Arg381=)
4g.16006576T>CCA438386817PROM1c.1416A>G (p.Arg472=)
c.*1099A>G (n.*1099A>G)
c.1389A>G (p.Arg463=)
c.1474A>G
c.1182A>G (p.Arg394=)
c.1209A>G (p.Arg403=)
c.1143A>G (p.Arg381=)
4g.16006576T>GCA438386818PROM1c.1416A>C (p.Arg472=)
c.*1099A>C (n.*1099A>C)
c.1389A>C (p.Arg463=)
c.1474A>C
c.1182A>C (p.Arg394=)
c.1209A>C (p.Arg403=)
c.1143A>C (p.Arg381=)
4g.16006577C>ACA356435190PROM1c.1415G>T (p.Arg472Leu)
c.*1098G>T (n.*1098G>T)
c.1388G>T (p.Arg463Leu)
c.1473G>T
c.1181G>T (p.Arg394Leu)
c.1208G>T (p.Arg403Leu)
c.1142G>T (p.Arg381Leu)
4g.16006577C=CA1440916663PROM1c.1415G= (p.Arg472=)
c.*1098G= (n.*1098G=)
c.1388G= (p.Arg463=)
c.1473G=
c.1181G= (p.Arg394=)
c.1208G= (p.Arg403=)
c.1142G= (p.Arg381=)
4g.16006577C>GCA356435193PROM1c.1415G>C (p.Arg472Pro)
c.*1098G>C (n.*1098G>C)
c.1388G>C (p.Arg463Pro)
c.1473G>C
c.1181G>C (p.Arg394Pro)
c.1208G>C (p.Arg403Pro)
c.1142G>C (p.Arg381Pro)
4g.16006577C>TCA2866775PROM1c.1415G>A (p.Arg472Gln)
c.*1098G>A (n.*1098G>A)
c.1388G>A (p.Arg463Gln)
c.1473G>A
c.1181G>A (p.Arg394Gln)
c.1208G>A (p.Arg403Gln)
c.1142G>A (p.Arg381Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.16006578G>ACA2866776PROM1c.1414C>T (p.Arg472Ter)
c.*1097C>T (n.*1097C>T)
c.1387C>T (p.Arg463Ter)
c.1472C>T
c.1180C>T (p.Arg394Ter)
c.1207C>T (p.Arg403Ter)
c.1141C>T (p.Arg381Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006578G>CCA356435196PROM1c.1414C>G (p.Arg472Gly)
c.*1097C>G (n.*1097C>G)
c.1387C>G (p.Arg463Gly)
c.1472C>G
c.1180C>G (p.Arg394Gly)
c.1207C>G (p.Arg403Gly)
c.1141C>G (p.Arg381Gly)
4g.16006578G=CA1440916664PROM1c.1414C= (p.Arg472=)
c.*1097C= (n.*1097C=)
c.1387C= (p.Arg463=)
c.1472C=
c.1180C= (p.Arg394=)
c.1207C= (p.Arg403=)
c.1141C= (p.Arg381=)
4g.16006578G>TCA438386821PROM1c.1414C>A (p.Arg472=)
c.*1097C>A (n.*1097C>A)
c.1387C>A (p.Arg463=)
c.1472C>A
c.1180C>A (p.Arg394=)
c.1207C>A (p.Arg403=)
c.1141C>A (p.Arg381=)
4g.16006579_16006580insAGGCA2580070890PROM1c.1414_1415insTCC (p.Thr471_Arg472insLeu)
c.*1097_*1098insTCC (n.*1097_*1098insTCC)
c.1387_1388insTCC (p.Thr462_Arg463insLeu)
c.1472_1473insTCC
c.1180_1181insTCC (p.Thr393_Arg394insLeu)
c.1207_1208insTCC (p.Thr402_Arg403insLeu)
c.1141_1142insTCC (p.Thr380_Arg381insLeu)
ClinVar
4g.16006580delCA2586973707PROM1c.1414del (p.Arg472GlufsTer18)
c.*1097del (n.*1097del)
c.1387del (p.Arg463GlufsTer18)
c.1472del
c.1180del (p.Arg394GlufsTer18)
c.1207del (p.Arg403GlufsTer18)
c.1141del (p.Arg381GlufsTer18)
4g.16006579G>ACA438386822PROM1c.1413C>T (p.Thr471=)
c.*1096C>T (n.*1096C>T)
c.1386C>T (p.Thr462=)
c.1471C>T
c.1179C>T (p.Thr393=)
c.1206C>T (p.Thr402=)
c.1140C>T (p.Thr380=)
4g.16006579G>CCA2866777PROM1c.1413C>G (p.Thr471=)
c.*1096C>G (n.*1096C>G)
c.1386C>G (p.Thr462=)
c.1471C>G
c.1179C>G (p.Thr393=)
c.1206C>G (p.Thr402=)
c.1140C>G (p.Thr380=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006579G=CA1440916665PROM1c.1413C= (p.Thr471=)
c.*1096C= (n.*1096C=)
c.1386C= (p.Thr462=)
c.1471C=
c.1179C= (p.Thr393=)
c.1206C= (p.Thr402=)
c.1140C= (p.Thr380=)
4g.16006579G>TCA438386824PROM1c.1413C>A (p.Thr471=)
c.*1096C>A (n.*1096C>A)
c.1386C>A (p.Thr462=)
c.1471C>A
c.1179C>A (p.Thr393=)
c.1206C>A (p.Thr402=)
c.1140C>A (p.Thr380=)
4g.16006580G>ACA356435203PROM1c.1412C>T (p.Thr471Ile)
c.*1095C>T (n.*1095C>T)
c.1385C>T (p.Thr462Ile)
c.1470C>T
c.1178C>T (p.Thr393Ile)
c.1205C>T (p.Thr402Ile)
c.1139C>T (p.Thr380Ile)
4g.16006580G>CCA356435206PROM1c.1412C>G (p.Thr471Ser)
c.*1095C>G (n.*1095C>G)
c.1385C>G (p.Thr462Ser)
c.1470C>G
c.1178C>G (p.Thr393Ser)
c.1205C>G (p.Thr402Ser)
c.1139C>G (p.Thr380Ser)
4g.16006580G>TCA356435208PROM1c.1412C>A (p.Thr471Asn)
c.*1095C>A (n.*1095C>A)
c.1385C>A (p.Thr462Asn)
c.1470C>A
c.1178C>A (p.Thr393Asn)
c.1205C>A (p.Thr402Asn)
c.1139C>A (p.Thr380Asn)
4g.16006581T>ACA356435216PROM1c.1411A>T (p.Thr471Ser)
c.*1094A>T (n.*1094A>T)
c.1384A>T (p.Thr462Ser)
c.1469A>T
c.1177A>T (p.Thr393Ser)
c.1204A>T (p.Thr402Ser)
c.1138A>T (p.Thr380Ser)
4g.16006581T>CCA356435212PROM1c.1411A>G (p.Thr471Ala)
c.*1094A>G (n.*1094A>G)
c.1384A>G (p.Thr462Ala)
c.1469A>G
c.1177A>G (p.Thr393Ala)
c.1204A>G (p.Thr402Ala)
c.1138A>G (p.Thr380Ala)
4g.16006581T>GCA356435210PROM1c.1411A>C (p.Thr471Pro)
c.*1094A>C (n.*1094A>C)
c.1384A>C (p.Thr462Pro)
c.1469A>C
c.1177A>C (p.Thr393Pro)
c.1204A>C (p.Thr402Pro)
c.1138A>C (p.Thr380Pro)
4g.16006582G>ACA438386825PROM1c.1410C>T (p.Thr470=)
c.*1093C>T (n.*1093C>T)
c.1383C>T (p.Thr461=)
c.1468C>T
c.1176C>T (p.Thr392=)
c.1203C>T (p.Thr401=)
c.1137C>T (p.Thr379=)
gnomAD v4
4g.16006582G>CCA438386826PROM1c.1410C>G (p.Thr470=)
c.*1093C>G (n.*1093C>G)
c.1383C>G (p.Thr461=)
c.1468C>G
c.1176C>G (p.Thr392=)
c.1203C>G (p.Thr401=)
c.1137C>G (p.Thr379=)
4g.16006582G=CA1440916666PROM1c.1410C= (p.Thr470=)
c.*1093C= (n.*1093C=)
c.1383C= (p.Thr461=)
c.1468C=
c.1176C= (p.Thr392=)
c.1203C= (p.Thr401=)
c.1137C= (p.Thr379=)
4g.16006582G>TCA2866778PROM1c.1410C>A (p.Thr470=)
c.*1093C>A (n.*1093C>A)
c.1383C>A (p.Thr461=)
c.1468C>A
c.1176C>A (p.Thr392=)
c.1203C>A (p.Thr401=)
c.1137C>A (p.Thr379=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006583G>ACA356435217PROM1c.1409C>T (p.Thr470Ile)
c.*1092C>T (n.*1092C>T)
c.1382C>T (p.Thr461Ile)
c.1467C>T
c.1175C>T (p.Thr392Ile)
c.1202C>T (p.Thr401Ile)
c.1136C>T (p.Thr379Ile)
4g.16006583G>CCA356435218PROM1c.1409C>G (p.Thr470Ser)
c.*1092C>G (n.*1092C>G)
c.1382C>G (p.Thr461Ser)
c.1467C>G
c.1175C>G (p.Thr392Ser)
c.1202C>G (p.Thr401Ser)
c.1136C>G (p.Thr379Ser)
4g.16006583G>TCA356435219PROM1c.1409C>A (p.Thr470Asn)
c.*1092C>A (n.*1092C>A)
c.1382C>A (p.Thr461Asn)
c.1467C>A
c.1175C>A (p.Thr392Asn)
c.1202C>A (p.Thr401Asn)
c.1136C>A (p.Thr379Asn)
4g.16006584T>ACA356435220PROM1c.1408A>T (p.Thr470Ser)
c.*1091A>T (n.*1091A>T)
c.1381A>T (p.Thr461Ser)
c.1466A>T
c.1174A>T (p.Thr392Ser)
c.1201A>T (p.Thr401Ser)
c.1135A>T (p.Thr379Ser)
COSMIC COSMIC
4g.16006584T>CCA2866779PROM1c.1408A>G (p.Thr470Ala)
c.*1091A>G (n.*1091A>G)
c.1381A>G (p.Thr461Ala)
c.1466A>G
c.1174A>G (p.Thr392Ala)
c.1201A>G (p.Thr401Ala)
c.1135A>G (p.Thr379Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006584T>GCA356435221PROM1c.1408A>C (p.Thr470Pro)
c.*1091A>C (n.*1091A>C)
c.1381A>C (p.Thr461Pro)
c.1466A>C
c.1174A>C (p.Thr392Pro)
c.1201A>C (p.Thr401Pro)
c.1135A>C (p.Thr379Pro)
4g.16006584T=CA1440916667PROM1c.1408A= (p.Thr470=)
c.*1091A= (n.*1091A=)
c.1381A= (p.Thr461=)
c.1466A=
c.1174A= (p.Thr392=)
c.1201A= (p.Thr401=)
c.1135A= (p.Thr379=)
4g.16006585C>ACA438386831PROM1c.1407G>T (p.Pro469=)
c.*1090G>T (n.*1090G>T)
c.1380G>T (p.Pro460=)
c.1465G>T
c.1173G>T (p.Pro391=)
c.1200G>T (p.Pro400=)
c.1134G>T (p.Pro378=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.16006585C=CA1440916668PROM1c.1407G= (p.Pro469=)
c.*1090G= (n.*1090G=)
c.1380G= (p.Pro460=)
c.1465G=
c.1173G= (p.Pro391=)
c.1200G= (p.Pro400=)
c.1134G= (p.Pro378=)
4g.16006585C>GCA438386832PROM1c.1407G>C (p.Pro469=)
c.*1090G>C (n.*1090G>C)
c.1380G>C (p.Pro460=)
c.1465G>C
c.1173G>C (p.Pro391=)
c.1200G>C (p.Pro400=)
c.1134G>C (p.Pro378=)
gnomAD v4
4g.16006585C>TCA2866780PROM1c.1407G>A (p.Pro469=)
c.*1090G>A (n.*1090G>A)
c.1380G>A (p.Pro460=)
c.1465G>A
c.1173G>A (p.Pro391=)
c.1200G>A (p.Pro400=)
c.1134G>A (p.Pro378=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006585_16006586insACA2670099976PROM1c.1406_1407insT (p.Thr470AspfsTer?)
c.*1089_*1090insT (n.*1089_*1090insT)
c.1379_1380insT (p.Thr461AspfsTer?)
c.1464_1465insT
c.1172_1173insT (p.Thr392AspfsTer?)
c.1199_1200insT (p.Thr401AspfsTer?)
c.1133_1134insT (p.Thr379AspfsTer?)
gnomAD v4
4g.16006586G>ACA356435223PROM1c.1406C>T (p.Pro469Leu)
c.*1089C>T (n.*1089C>T)
c.1379C>T (p.Pro460Leu)
c.1464C>T
c.1172C>T (p.Pro391Leu)
c.1199C>T (p.Pro400Leu)
c.1133C>T (p.Pro378Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.16006586G>CCA356435228PROM1c.1406C>G (p.Pro469Arg)
c.*1089C>G (n.*1089C>G)
c.1379C>G (p.Pro460Arg)
c.1464C>G
c.1172C>G (p.Pro391Arg)
c.1199C>G (p.Pro400Arg)
c.1133C>G (p.Pro378Arg)
gnomAD v4
4g.16006586G=CA1440916669PROM1c.1406C= (p.Pro469=)
c.*1089C= (n.*1089C=)
c.1379C= (p.Pro460=)
c.1464C=
c.1172C= (p.Pro391=)
c.1199C= (p.Pro400=)
c.1133C= (p.Pro378=)
4g.16006586G>TCA356435229PROM1c.1406C>A (p.Pro469Gln)
c.*1089C>A (n.*1089C>A)
c.1379C>A (p.Pro460Gln)
c.1464C>A
c.1172C>A (p.Pro391Gln)
c.1199C>A (p.Pro400Gln)
c.1133C>A (p.Pro378Gln)
4g.16006587G>ACA356435231PROM1c.1405C>T (p.Pro469Ser)
c.*1088C>T (n.*1088C>T)
c.1378C>T (p.Pro460Ser)
c.1463C>T
c.1171C>T (p.Pro391Ser)
c.1198C>T (p.Pro400Ser)
c.1132C>T (p.Pro378Ser)
4g.16006587G>CCA356435233PROM1c.1405C>G (p.Pro469Ala)
c.*1088C>G (n.*1088C>G)
c.1378C>G (p.Pro460Ala)
c.1463C>G
c.1171C>G (p.Pro391Ala)
c.1198C>G (p.Pro400Ala)
c.1132C>G (p.Pro378Ala)
4g.16006587G=CA1440916670PROM1c.1405C= (p.Pro469=)
c.*1088C= (n.*1088C=)
c.1378C= (p.Pro460=)
c.1463C=
c.1171C= (p.Pro391=)
c.1198C= (p.Pro400=)
c.1132C= (p.Pro378=)
4g.16006587G>TCA2866781PROM1c.1405C>A (p.Pro469Thr)
c.*1088C>A (n.*1088C>A)
c.1378C>A (p.Pro460Thr)
c.1463C>A
c.1171C>A (p.Pro391Thr)
c.1198C>A (p.Pro400Thr)
c.1132C>A (p.Pro378Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006588G>ACA438386834PROM1c.1404C>T (p.Thr468=)
c.*1087C>T (n.*1087C>T)
c.1377C>T (p.Thr459=)
c.1462C>T
c.1170C>T (p.Thr390=)
c.1197C>T (p.Thr399=)
c.1131C>T (p.Thr377=)
4g.16006588G>CCA438386836PROM1c.1404C>G (p.Thr468=)
c.*1087C>G (n.*1087C>G)
c.1377C>G (p.Thr459=)
c.1462C>G
c.1170C>G (p.Thr390=)
c.1197C>G (p.Thr399=)
c.1131C>G (p.Thr377=)
4g.16006588G>TCA438386838PROM1c.1404C>A (p.Thr468=)
c.*1087C>A (n.*1087C>A)
c.1377C>A (p.Thr459=)
c.1462C>A
c.1170C>A (p.Thr390=)
c.1197C>A (p.Thr399=)
c.1131C>A (p.Thr377=)
4g.16006589G>ACA356435246PROM1c.1403C>T (p.Thr468Ile)
c.*1086C>T (n.*1086C>T)
c.1376C>T (p.Thr459Ile)
c.1461C>T
c.1169C>T (p.Thr390Ile)
c.1196C>T (p.Thr399Ile)
c.1130C>T (p.Thr377Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.16006589G>CCA356435245PROM1c.1403C>G (p.Thr468Ser)
c.*1086C>G (n.*1086C>G)
c.1376C>G (p.Thr459Ser)
c.1461C>G
c.1169C>G (p.Thr390Ser)
c.1196C>G (p.Thr399Ser)
c.1130C>G (p.Thr377Ser)
4g.16006589G=CA1440916671PROM1c.1403C= (p.Thr468=)
c.*1086C= (n.*1086C=)
c.1376C= (p.Thr459=)
c.1461C=
c.1169C= (p.Thr390=)
c.1196C= (p.Thr399=)
c.1130C= (p.Thr377=)
4g.16006589G>TCA92594498PROM1c.1403C>A (p.Thr468Asn)
c.*1086C>A (n.*1086C>A)
c.1376C>A (p.Thr459Asn)
c.1461C>A
c.1169C>A (p.Thr390Asn)
c.1196C>A (p.Thr399Asn)
c.1130C>A (p.Thr377Asn)
dbSNP gnomAD v3 gnomAD v4
4g.16006590T>ACA356435248PROM1c.1402A>T (p.Thr468Ser)
c.*1085A>T (n.*1085A>T)
c.1375A>T (p.Thr459Ser)
c.1460A>T
c.1168A>T (p.Thr390Ser)
c.1195A>T (p.Thr399Ser)
c.1129A>T (p.Thr377Ser)
4g.16006590T>CCA356435250PROM1c.1402A>G (p.Thr468Ala)
c.*1085A>G (n.*1085A>G)
c.1375A>G (p.Thr459Ala)
c.1460A>G
c.1168A>G (p.Thr390Ala)
c.1195A>G (p.Thr399Ala)
c.1129A>G (p.Thr377Ala)
4g.16006590T>GCA356435252PROM1c.1402A>C (p.Thr468Pro)
c.*1085A>C (n.*1085A>C)
c.1375A>C (p.Thr459Pro)
c.1460A>C
c.1168A>C (p.Thr390Pro)
c.1195A>C (p.Thr399Pro)
c.1129A>C (p.Thr377Pro)
dbSNP
4g.16006590T=CA1440916672PROM1c.1402A= (p.Thr468=)
c.*1085A= (n.*1085A=)
c.1375A= (p.Thr459=)
c.1460A=
c.1168A= (p.Thr390=)
c.1195A= (p.Thr399=)
c.1129A= (p.Thr377=)
4g.16006591G>ACA438386843PROM1c.1401C>T (p.Ala467=)
c.*1084C>T (n.*1084C>T)
c.1374C>T (p.Ala458=)
c.1459C>T
c.1167C>T (p.Ala389=)
c.1194C>T (p.Ala398=)
c.1128C>T (p.Ala376=)
dbSNP gnomAD v4
4g.16006591G>CCA438386842PROM1c.1401C>G (p.Ala467=)
c.*1084C>G (n.*1084C>G)
c.1374C>G (p.Ala458=)
c.1459C>G
c.1167C>G (p.Ala389=)
c.1194C>G (p.Ala398=)
c.1128C>G (p.Ala376=)
4g.16006591G=CA1440916673PROM1c.1401C= (p.Ala467=)
c.*1084C= (n.*1084C=)
c.1374C= (p.Ala458=)
c.1459C=
c.1167C= (p.Ala389=)
c.1194C= (p.Ala398=)
c.1128C= (p.Ala376=)
4g.16006591G>TCA438386841PROM1c.1401C>A (p.Ala467=)
c.*1084C>A (n.*1084C>A)
c.1374C>A (p.Ala458=)
c.1459C>A
c.1167C>A (p.Ala389=)
c.1194C>A (p.Ala398=)
c.1128C>A (p.Ala376=)
4g.16006592G>ACA356435254PROM1c.1400C>T (p.Ala467Val)
c.*1083C>T (n.*1083C>T)
c.1373C>T (p.Ala458Val)
c.1458C>T
c.1166C>T (p.Ala389Val)
c.1193C>T (p.Ala398Val)
c.1127C>T (p.Ala376Val)
gnomAD v4
4g.16006592G>CCA356435256PROM1c.1400C>G (p.Ala467Gly)
c.*1083C>G (n.*1083C>G)
c.1373C>G (p.Ala458Gly)
c.1458C>G
c.1166C>G (p.Ala389Gly)
c.1193C>G (p.Ala398Gly)
c.1127C>G (p.Ala376Gly)
4g.16006592G>TCA356435257PROM1c.1400C>A (p.Ala467Asp)
c.*1083C>A (n.*1083C>A)
c.1373C>A (p.Ala458Asp)
c.1458C>A
c.1166C>A (p.Ala389Asp)
c.1193C>A (p.Ala398Asp)
c.1127C>A (p.Ala376Asp)
4g.16006593C>ACA356435259PROM1c.1399G>T (p.Ala467Ser)
c.*1082G>T (n.*1082G>T)
c.1372G>T (p.Ala458Ser)
c.1457G>T
c.1165G>T (p.Ala389Ser)
c.1192G>T (p.Ala398Ser)
c.1126G>T (p.Ala376Ser)
4g.16006593C>GCA356435260PROM1c.1399G>C (p.Ala467Pro)
c.*1082G>C (n.*1082G>C)
c.1372G>C (p.Ala458Pro)
c.1457G>C
c.1165G>C (p.Ala389Pro)
c.1192G>C (p.Ala398Pro)
c.1126G>C (p.Ala376Pro)
4g.16006593C>TCA356435262PROM1c.1399G>A (p.Ala467Thr)
c.*1082G>A (n.*1082G>A)
c.1372G>A (p.Ala458Thr)
c.1457G>A
c.1165G>A (p.Ala389Thr)
c.1192G>A (p.Ala398Thr)
c.1126G>A (p.Ala376Thr)
gnomAD v4 COSMIC COSMIC
4g.16006594A>CCA356435264PROM1c.1398T>G (p.His466Gln)
c.*1081T>G (n.*1081T>G)
c.1371T>G (p.His457Gln)
c.1456T>G
c.1164T>G (p.His388Gln)
c.1191T>G (p.His397Gln)
c.1125T>G (p.His375Gln)
4g.16006594A>GCA438386847PROM1c.1398T>C (p.His466=)
c.*1081T>C (n.*1081T>C)
c.1371T>C (p.His457=)
c.1456T>C
c.1164T>C (p.His388=)
c.1191T>C (p.His397=)
c.1125T>C (p.His375=)
4g.16006594A>TCA356435266PROM1c.1398T>A (p.His466Gln)
c.*1081T>A (n.*1081T>A)
c.1371T>A (p.His457Gln)
c.1456T>A
c.1164T>A (p.His388Gln)
c.1191T>A (p.His397Gln)
c.1125T>A (p.His375Gln)
4g.16006595T>ACA356435269PROM1c.1397A>T (p.His466Leu)
c.*1080A>T (n.*1080A>T)
c.1370A>T (p.His457Leu)
c.1455A>T
c.1163A>T (p.His388Leu)
c.1190A>T (p.His397Leu)
c.1124A>T (p.His375Leu)
4g.16006595T>CCA356435271PROM1c.1397A>G (p.His466Arg)
c.*1080A>G (n.*1080A>G)
c.1370A>G (p.His457Arg)
c.1455A>G
c.1163A>G (p.His388Arg)
c.1190A>G (p.His397Arg)
c.1124A>G (p.His375Arg)
gnomAD v4
4g.16006595T>GCA356435272PROM1c.1397A>C (p.His466Pro)
c.*1080A>C (n.*1080A>C)
c.1370A>C (p.His457Pro)
c.1455A>C
c.1163A>C (p.His388Pro)
c.1190A>C (p.His397Pro)
c.1124A>C (p.His375Pro)
4g.16006596G>ACA356435276PROM1c.1396C>T (p.His466Tyr)
c.*1079C>T (n.*1079C>T)
c.1369C>T (p.His457Tyr)
c.1454C>T
c.1162C>T (p.His388Tyr)
c.1189C>T (p.His397Tyr)
c.1123C>T (p.His375Tyr)
dbSNP
4g.16006596G>CCA356435278PROM1c.1396C>G (p.His466Asp)
c.*1079C>G (n.*1079C>G)
c.1369C>G (p.His457Asp)
c.1454C>G
c.1162C>G (p.His388Asp)
c.1189C>G (p.His397Asp)
c.1123C>G (p.His375Asp)
4g.16006596G=CA1440916674PROM1c.1396C= (p.His466=)
c.*1079C= (n.*1079C=)
c.1369C= (p.His457=)
c.1454C=
c.1162C= (p.His388=)
c.1189C= (p.His397=)
c.1123C= (p.His375=)
4g.16006596G>TCA356435274PROM1c.1396C>A (p.His466Asn)
c.*1079C>A (n.*1079C>A)
c.1369C>A (p.His457Asn)
c.1454C>A
c.1162C>A (p.His388Asn)
c.1189C>A (p.His397Asn)
c.1123C>A (p.His375Asn)
4g.16006597C>ACA356435280PROM1c.1395G>T (p.Arg465Ser)
c.*1078G>T (n.*1078G>T)
c.1368G>T (p.Arg456Ser)
c.1453G>T
c.1161G>T (p.Arg387Ser)
c.1188G>T (p.Arg396Ser)
c.1122G>T (p.Arg374Ser)
4g.16006597C=CA1440916675PROM1c.1395G= (p.Arg465=)
c.*1078G= (n.*1078G=)
c.1368G= (p.Arg456=)
c.1453G=
c.1161G= (p.Arg387=)
c.1188G= (p.Arg396=)
c.1122G= (p.Arg374=)
4g.16006597C>GCA356435282PROM1c.1395G>C (p.Arg465Ser)
c.*1078G>C (n.*1078G>C)
c.1368G>C (p.Arg456Ser)
c.1453G>C
c.1161G>C (p.Arg387Ser)
c.1188G>C (p.Arg396Ser)
c.1122G>C (p.Arg374Ser)
4g.16006597C>TCA2866782PROM1c.1395G>A (p.Arg465=)
c.*1078G>A (n.*1078G>A)
c.1368G>A (p.Arg456=)
c.1453G>A
c.1161G>A (p.Arg387=)
c.1188G>A (p.Arg396=)
c.1122G>A (p.Arg374=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006598C>ACA356435285PROM1c.1394G>T (p.Arg465Met)
c.*1077G>T (n.*1077G>T)
c.1367G>T (p.Arg456Met)
c.1452G>T
c.1160G>T (p.Arg387Met)
c.1187G>T (p.Arg396Met)
c.1121G>T (p.Arg374Met)
4g.16006598C=CA1440916676PROM1c.1394G= (p.Arg465=)
c.*1077G= (n.*1077G=)
c.1367G= (p.Arg456=)
c.1452G=
c.1160G= (p.Arg387=)
c.1187G= (p.Arg396=)
c.1121G= (p.Arg374=)
4g.16006598C>GCA356435291PROM1c.1394G>C (p.Arg465Thr)
c.*1077G>C (n.*1077G>C)
c.1367G>C (p.Arg456Thr)
c.1452G>C
c.1160G>C (p.Arg387Thr)
c.1187G>C (p.Arg396Thr)
c.1121G>C (p.Arg374Thr)
4g.16006598C>TCA356435294PROM1c.1394G>A (p.Arg465Lys)
c.*1077G>A (n.*1077G>A)
c.1367G>A (p.Arg456Lys)
c.1452G>A
c.1160G>A (p.Arg387Lys)
c.1187G>A (p.Arg396Lys)
c.1121G>A (p.Arg374Lys)
dbSNP gnomAD v3 gnomAD v4
4g.16006599T>ACA356435296PROM1c.1393A>T (p.Arg465Trp)
c.*1076A>T (n.*1076A>T)
c.1366A>T (p.Arg456Trp)
c.1451A>T
c.1159A>T (p.Arg387Trp)
c.1186A>T (p.Arg396Trp)
c.1120A>T (p.Arg374Trp)
4g.16006599T>CCA356435302PROM1c.1393A>G (p.Arg465Gly)
c.*1076A>G (n.*1076A>G)
c.1366A>G (p.Arg456Gly)
c.1451A>G
c.1159A>G (p.Arg387Gly)
c.1186A>G (p.Arg396Gly)
c.1120A>G (p.Arg374Gly)
dbSNP gnomAD v2 gnomAD v4
4g.16006599T>GCA438386852PROM1c.1393A>C (p.Arg465=)
c.*1076A>C (n.*1076A>C)
c.1366A>C (p.Arg456=)
c.1451A>C
c.1159A>C (p.Arg387=)
c.1186A>C (p.Arg396=)
c.1120A>C (p.Arg374=)
4g.16006599T=CA1440916677PROM1c.1393A= (p.Arg465=)
c.*1076A= (n.*1076A=)
c.1366A= (p.Arg456=)
c.1451A=
c.1159A= (p.Arg387=)
c.1186A= (p.Arg396=)
c.1120A= (p.Arg374=)
4g.16006600G>ACA438386853PROM1c.1392C>T (p.Asp464=)
c.*1075C>T (n.*1075C>T)
c.1365C>T (p.Asp455=)
c.1450C>T
c.1158C>T (p.Asp386=)
c.1185C>T (p.Asp395=)
c.1119C>T (p.Asp373=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.16006600G>CCA356435303PROM1c.1392C>G (p.Asp464Glu)
c.*1075C>G (n.*1075C>G)
c.1365C>G (p.Asp455Glu)
c.1450C>G
c.1158C>G (p.Asp386Glu)
c.1185C>G (p.Asp395Glu)
c.1119C>G (p.Asp373Glu)
4g.16006600G=CA1440916678PROM1c.1392C= (p.Asp464=)
c.*1075C= (n.*1075C=)
c.1365C= (p.Asp455=)
c.1450C=
c.1158C= (p.Asp386=)
c.1185C= (p.Asp395=)
c.1119C= (p.Asp373=)
4g.16006600G>TCA356435305PROM1c.1392C>A (p.Asp464Glu)
c.*1075C>A (n.*1075C>A)
c.1365C>A (p.Asp455Glu)
c.1450C>A
c.1158C>A (p.Asp386Glu)
c.1185C>A (p.Asp395Glu)
c.1119C>A (p.Asp373Glu)
gnomAD v4
4g.16006601T>ACA356435311PROM1c.1391A>T (p.Asp464Val)
c.*1074A>T (n.*1074A>T)
c.1364A>T (p.Asp455Val)
c.1449A>T
c.1157A>T (p.Asp386Val)
c.1184A>T (p.Asp395Val)
c.1118A>T (p.Asp373Val)
4g.16006601T>CCA356435313PROM1c.1391A>G (p.Asp464Gly)
c.*1074A>G (n.*1074A>G)
c.1364A>G (p.Asp455Gly)
c.1449A>G
c.1157A>G (p.Asp386Gly)
c.1184A>G (p.Asp395Gly)
c.1118A>G (p.Asp373Gly)
4g.16006601T>GCA356435317PROM1c.1391A>C (p.Asp464Ala)
c.*1074A>C (n.*1074A>C)
c.1364A>C (p.Asp455Ala)
c.1449A>C
c.1157A>C (p.Asp386Ala)
c.1184A>C (p.Asp395Ala)
c.1118A>C (p.Asp373Ala)
4g.16006602C>ACA356435323PROM1c.1390G>T (p.Asp464Tyr)
c.*1073G>T (n.*1073G>T)
c.1363G>T (p.Asp455Tyr)
c.1448G>T
c.1156G>T (p.Asp386Tyr)
c.1183G>T (p.Asp395Tyr)
c.1117G>T (p.Asp373Tyr)
4g.16006602C>GCA356435320PROM1c.1390G>C (p.Asp464His)
c.*1073G>C (n.*1073G>C)
c.1363G>C (p.Asp455His)
c.1448G>C
c.1156G>C (p.Asp386His)
c.1183G>C (p.Asp395His)
c.1117G>C (p.Asp373His)
4g.16006602C>TCA356435322PROM1c.1390G>A (p.Asp464Asn)
c.*1073G>A (n.*1073G>A)
c.1363G>A (p.Asp455Asn)
c.1448G>A
c.1156G>A (p.Asp386Asn)
c.1183G>A (p.Asp395Asn)
c.1117G>A (p.Asp373Asn)
4g.16006603A=CA1440916679PROM1c.1389T= (p.Tyr463=)
c.*1072T= (n.*1072T=)
c.1362T= (p.Tyr454=)
c.1447T=
c.1155T= (p.Tyr385=)
c.1182T= (p.Tyr394=)
c.1116T= (p.Tyr372=)
4g.16006603A>CCA356435324PROM1c.1389T>G (p.Tyr463Ter)
c.*1072T>G (n.*1072T>G)
c.1362T>G (p.Tyr454Ter)
c.1447T>G
c.1155T>G (p.Tyr385Ter)
c.1182T>G (p.Tyr394Ter)
c.1116T>G (p.Tyr372Ter)
4g.16006603A>GCA438386854PROM1c.1389T>C (p.Tyr463=)
c.*1072T>C (n.*1072T>C)
c.1362T>C (p.Tyr454=)
c.1447T>C
c.1155T>C (p.Tyr385=)
c.1182T>C (p.Tyr394=)
c.1116T>C (p.Tyr372=)
gnomAD v4
4g.16006603A>TCA2866783PROM1c.1389T>A (p.Tyr463Ter)
c.*1072T>A (n.*1072T>A)
c.1362T>A (p.Tyr454Ter)
c.1447T>A
c.1155T>A (p.Tyr385Ter)
c.1182T>A (p.Tyr394Ter)
c.1116T>A (p.Tyr372Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006604T>ACA356435325PROM1c.1388A>T (p.Tyr463Phe)
c.*1071A>T (n.*1071A>T)
c.1361A>T (p.Tyr454Phe)
c.1446A>T
c.1154A>T (p.Tyr385Phe)
c.1181A>T (p.Tyr394Phe)
c.1115A>T (p.Tyr372Phe)
4g.16006604T>CCA2866784PROM1c.1388A>G (p.Tyr463Cys)
c.*1071A>G (n.*1071A>G)
c.1361A>G (p.Tyr454Cys)
c.1446A>G
c.1154A>G (p.Tyr385Cys)
c.1181A>G (p.Tyr394Cys)
c.1115A>G (p.Tyr372Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006604T>GCA356435326PROM1c.1388A>C (p.Tyr463Ser)
c.*1071A>C (n.*1071A>C)
c.1361A>C (p.Tyr454Ser)
c.1446A>C
c.1154A>C (p.Tyr385Ser)
c.1181A>C (p.Tyr394Ser)
c.1115A>C (p.Tyr372Ser)
4g.16006604T=CA1440916680PROM1c.1388A= (p.Tyr463=)
c.*1071A= (n.*1071A=)
c.1361A= (p.Tyr454=)
c.1446A=
c.1154A= (p.Tyr385=)
c.1181A= (p.Tyr394=)
c.1115A= (p.Tyr372=)
4g.16006605A=CA1440916681PROM1c.1387T= (p.Tyr463=)
c.*1070T= (n.*1070T=)
c.1360T= (p.Tyr454=)
c.1445T=
c.1153T= (p.Tyr385=)
c.1180T= (p.Tyr394=)
c.1114T= (p.Tyr372=)
4g.16006605A>CCA356435327PROM1c.1387T>G (p.Tyr463Asp)
c.*1070T>G (n.*1070T>G)
c.1360T>G (p.Tyr454Asp)
c.1445T>G
c.1153T>G (p.Tyr385Asp)
c.1180T>G (p.Tyr394Asp)
c.1114T>G (p.Tyr372Asp)
4g.16006605A>GCA356435328PROM1c.1387T>C (p.Tyr463His)
c.*1070T>C (n.*1070T>C)
c.1360T>C (p.Tyr454His)
c.1445T>C
c.1153T>C (p.Tyr385His)
c.1180T>C (p.Tyr394His)
c.1114T>C (p.Tyr372His)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.16006605A>TCA356435329PROM1c.1387T>A (p.Tyr463Asn)
c.*1070T>A (n.*1070T>A)
c.1360T>A (p.Tyr454Asn)
c.1445T>A
c.1153T>A (p.Tyr385Asn)
c.1180T>A (p.Tyr394Asn)
c.1114T>A (p.Tyr372Asn)
4g.16006606_16006620delCA2670099977PROM1c.1373_1387del (p.Cys458_Gly462del)
c.*1056_*1070del (n.*1056_*1070del)
c.1346_1360del (p.Cys449_Gly453del)
c.1431_1445del
c.1139_1153del (p.Cys380_Gly384del)
c.1166_1180del (p.Cys389_Gly393del)
c.1100_1114del (p.Cys367_Gly371del)
gnomAD v4
4g.16006606G>ACA2866785PROM1c.1386C>T (p.Gly462=)
c.*1069C>T (n.*1069C>T)
c.1359C>T (p.Gly453=)
c.1444C>T
c.1152C>T (p.Gly384=)
c.1179C>T (p.Gly393=)
c.1113C>T (p.Gly371=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006606G>CCA438386856PROM1c.1386C>G (p.Gly462=)
c.*1069C>G (n.*1069C>G)
c.1359C>G (p.Gly453=)
c.1444C>G
c.1152C>G (p.Gly384=)
c.1179C>G (p.Gly393=)
c.1113C>G (p.Gly371=)
4g.16006606G=CA1440916682PROM1c.1386C= (p.Gly462=)
c.*1069C= (n.*1069C=)
c.1359C= (p.Gly453=)
c.1444C=
c.1152C= (p.Gly384=)
c.1179C= (p.Gly393=)
c.1113C= (p.Gly371=)
4g.16006606G>TCA438386857PROM1c.1386C>A (p.Gly462=)
c.*1069C>A (n.*1069C>A)
c.1359C>A (p.Gly453=)
c.1444C>A
c.1152C>A (p.Gly384=)
c.1179C>A (p.Gly393=)
c.1113C>A (p.Gly371=)
4g.16006607C>ACA356435332PROM1c.1385G>T (p.Gly462Val)
c.*1068G>T (n.*1068G>T)
c.1358G>T (p.Gly453Val)
c.1443G>T
c.1151G>T (p.Gly384Val)
c.1178G>T (p.Gly393Val)
c.1112G>T (p.Gly371Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.16006607C=CA1440916683PROM1c.1385G= (p.Gly462=)
c.*1068G= (n.*1068G=)
c.1358G= (p.Gly453=)
c.1443G=
c.1151G= (p.Gly384=)
c.1178G= (p.Gly393=)
c.1112G= (p.Gly371=)
4g.16006607C>GCA356435333PROM1c.1385G>C (p.Gly462Ala)
c.*1068G>C (n.*1068G>C)
c.1358G>C (p.Gly453Ala)
c.1443G>C
c.1151G>C (p.Gly384Ala)
c.1178G>C (p.Gly393Ala)
c.1112G>C (p.Gly371Ala)
4g.16006607C>TCA356435334PROM1c.1385G>A (p.Gly462Asp)
c.*1068G>A (n.*1068G>A)
c.1358G>A (p.Gly453Asp)
c.1443G>A
c.1151G>A (p.Gly384Asp)
c.1178G>A (p.Gly393Asp)
c.1112G>A (p.Gly371Asp)
gnomAD v4
4g.16006608C>ACA356435337PROM1c.1384G>T (p.Gly462Cys)
c.*1067G>T (n.*1067G>T)
c.1357G>T (p.Gly453Cys)
c.1442G>T
c.1150G>T (p.Gly384Cys)
c.1177G>T (p.Gly393Cys)
c.1111G>T (p.Gly371Cys)
dbSNP gnomAD v3 gnomAD v4
4g.16006608C=CA1440916684PROM1c.1384G= (p.Gly462=)
c.*1067G= (n.*1067G=)
c.1357G= (p.Gly453=)
c.1442G=
c.1150G= (p.Gly384=)
c.1177G= (p.Gly393=)
c.1111G= (p.Gly371=)
4g.16006608C>GCA356435335PROM1c.1384G>C (p.Gly462Arg)
c.*1067G>C (n.*1067G>C)
c.1357G>C (p.Gly453Arg)
c.1442G>C
c.1150G>C (p.Gly384Arg)
c.1177G>C (p.Gly393Arg)
c.1111G>C (p.Gly371Arg)
4g.16006608C>TCA2866786PROM1c.1384G>A (p.Gly462Ser)
c.*1067G>A (n.*1067G>A)
c.1357G>A (p.Gly453Ser)
c.1442G>A
c.1150G>A (p.Gly384Ser)
c.1177G>A (p.Gly393Ser)
c.1111G>A (p.Gly371Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006609G>ACA2866787PROM1c.1383C>T (p.Cys461=)
c.*1066C>T (n.*1066C>T)
c.1356C>T (p.Cys452=)
c.1441C>T
c.1149C>T (p.Cys383=)
c.1176C>T (p.Cys392=)
c.1110C>T (p.Cys370=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006609G>CCA356435342PROM1c.1383C>G (p.Cys461Trp)
c.*1066C>G (n.*1066C>G)
c.1356C>G (p.Cys452Trp)
c.1441C>G
c.1149C>G (p.Cys383Trp)
c.1176C>G (p.Cys392Trp)
c.1110C>G (p.Cys370Trp)
4g.16006609G=CA1440916685PROM1c.1383C= (p.Cys461=)
c.*1066C= (n.*1066C=)
c.1356C= (p.Cys452=)
c.1441C=
c.1149C= (p.Cys383=)
c.1176C= (p.Cys392=)
c.1110C= (p.Cys370=)
4g.16006609G>TCA356435340PROM1c.1383C>A (p.Cys461Ter)
c.*1066C>A (n.*1066C>A)
c.1356C>A (p.Cys452Ter)
c.1441C>A
c.1149C>A (p.Cys383Ter)
c.1176C>A (p.Cys392Ter)
c.1110C>A (p.Cys370Ter)
4g.16006610C>ACA356435344PROM1c.1382G>T (p.Cys461Phe)
c.*1065G>T (n.*1065G>T)
c.1355G>T (p.Cys452Phe)
c.1440G>T
c.1148G>T (p.Cys383Phe)
c.1175G>T (p.Cys392Phe)
c.1109G>T (p.Cys370Phe)
4g.16006610C>GCA356435346PROM1c.1382G>C (p.Cys461Ser)
c.*1065G>C (n.*1065G>C)
c.1355G>C (p.Cys452Ser)
c.1440G>C
c.1148G>C (p.Cys383Ser)
c.1175G>C (p.Cys392Ser)
c.1109G>C (p.Cys370Ser)
4g.16006610C>TCA356435348PROM1c.1382G>A (p.Cys461Tyr)
c.*1065G>A (n.*1065G>A)
c.1355G>A (p.Cys452Tyr)
c.1440G>A
c.1148G>A (p.Cys383Tyr)
c.1175G>A (p.Cys392Tyr)
c.1109G>A (p.Cys370Tyr)
4g.16006611A>CCA356435349PROM1c.1381T>G (p.Cys461Gly)
c.*1064T>G (n.*1064T>G)
c.1354T>G (p.Cys452Gly)
c.1439T>G
c.1147T>G (p.Cys383Gly)
c.1174T>G (p.Cys392Gly)
c.1108T>G (p.Cys370Gly)
4g.16006611A>GCA356435351PROM1c.1381T>C (p.Cys461Arg)
c.*1064T>C (n.*1064T>C)
c.1354T>C (p.Cys452Arg)
c.1439T>C
c.1147T>C (p.Cys383Arg)
c.1174T>C (p.Cys392Arg)
c.1108T>C (p.Cys370Arg)
gnomAD v4
4g.16006611A>TCA356435353PROM1c.1381T>A (p.Cys461Ser)
c.*1064T>A (n.*1064T>A)
c.1354T>A (p.Cys452Ser)
c.1439T>A
c.1147T>A (p.Cys383Ser)
c.1174T>A (p.Cys392Ser)
c.1108T>A (p.Cys370Ser)
4g.16006612C>ACA438386865PROM1c.1380G>T (p.Val460=)
c.*1063G>T (n.*1063G>T)
c.1353G>T (p.Val451=)
c.1438G>T
c.1146G>T (p.Val382=)
c.1173G>T (p.Val391=)
c.1107G>T (p.Val369=)
4g.16006612C=CA1440916686PROM1c.1380G= (p.Val460=)
c.*1063G= (n.*1063G=)
c.1353G= (p.Val451=)
c.1438G=
c.1146G= (p.Val382=)
c.1173G= (p.Val391=)
c.1107G= (p.Val369=)
4g.16006612C>GCA92594539PROM1c.1380G>C (p.Val460=)
c.*1063G>C (n.*1063G>C)
c.1353G>C (p.Val451=)
c.1438G>C
c.1146G>C (p.Val382=)
c.1173G>C (p.Val391=)
c.1107G>C (p.Val369=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.16006612C>TCA438386864PROM1c.1380G>A (p.Val460=)
c.*1063G>A (n.*1063G>A)
c.1353G>A (p.Val451=)
c.1438G>A
c.1146G>A (p.Val382=)
c.1173G>A (p.Val391=)
c.1107G>A (p.Val369=)
dbSNP gnomAD v3 gnomAD v4
4g.16006613A>CCA356435354PROM1c.1379T>G (p.Val460Gly)
c.*1062T>G (n.*1062T>G)
c.1352T>G (p.Val451Gly)
c.1437T>G
c.1145T>G (p.Val382Gly)
c.1172T>G (p.Val391Gly)
c.1106T>G (p.Val369Gly)
4g.16006613A>GCA356435355PROM1c.1379T>C (p.Val460Ala)
c.*1062T>C (n.*1062T>C)
c.1352T>C (p.Val451Ala)
c.1437T>C
c.1145T>C (p.Val382Ala)
c.1172T>C (p.Val391Ala)
c.1106T>C (p.Val369Ala)
gnomAD v4
4g.16006613A>TCA356435356PROM1c.1379T>A (p.Val460Glu)
c.*1062T>A (n.*1062T>A)
c.1352T>A (p.Val451Glu)
c.1437T>A
c.1145T>A (p.Val382Glu)
c.1172T>A (p.Val391Glu)
c.1106T>A (p.Val369Glu)
4g.16006614C>ACA356435357PROM1c.1378G>T (p.Val460Leu)
c.*1061G>T (n.*1061G>T)
c.1351G>T (p.Val451Leu)
c.1436G>T
c.1144G>T (p.Val382Leu)
c.1171G>T (p.Val391Leu)
c.1105G>T (p.Val369Leu)
4g.16006614C=CA1440916687PROM1c.1378G= (p.Val460=)
c.*1061G= (n.*1061G=)
c.1351G= (p.Val451=)
c.1436G=
c.1144G= (p.Val382=)
c.1171G= (p.Val391=)
c.1105G= (p.Val369=)
4g.16006614C>GCA356435359PROM1c.1378G>C (p.Val460Leu)
c.*1061G>C (n.*1061G>C)
c.1351G>C (p.Val451Leu)
c.1436G>C
c.1144G>C (p.Val382Leu)
c.1171G>C (p.Val391Leu)
c.1105G>C (p.Val369Leu)
4g.16006614C>TCA2866788PROM1c.1378G>A (p.Val460Met)
c.*1061G>A (n.*1061G>A)
c.1351G>A (p.Val451Met)
c.1436G>A
c.1144G>A (p.Val382Met)
c.1171G>A (p.Val391Met)
c.1105G>A (p.Val369Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006615G>ACA2866789PROM1c.1377C>T (p.Gly459=)
c.*1060C>T (n.*1060C>T)
c.1350C>T (p.Gly450=)
c.1435C>T
c.1143C>T (p.Gly381=)
c.1170C>T (p.Gly390=)
c.1104C>T (p.Gly368=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006615G>CCA438386870PROM1c.1377C>G (p.Gly459=)
c.*1060C>G (n.*1060C>G)
c.1350C>G (p.Gly450=)
c.1435C>G
c.1143C>G (p.Gly381=)
c.1170C>G (p.Gly390=)
c.1104C>G (p.Gly368=)
4g.16006615G=CA1440916688PROM1c.1377C= (p.Gly459=)
c.*1060C= (n.*1060C=)
c.1350C= (p.Gly450=)
c.1435C=
c.1143C= (p.Gly381=)
c.1170C= (p.Gly390=)
c.1104C= (p.Gly368=)
4g.16006615G>TCA438386871PROM1c.1377C>A (p.Gly459=)
c.*1060C>A (n.*1060C>A)
c.1350C>A (p.Gly450=)
c.1435C>A
c.1143C>A (p.Gly381=)
c.1170C>A (p.Gly390=)
c.1104C>A (p.Gly368=)
dbSNP
4g.16006616C>ACA356435362PROM1c.1376G>T (p.Gly459Val)
c.*1059G>T (n.*1059G>T)
c.1349G>T (p.Gly450Val)
c.1434G>T
c.1142G>T (p.Gly381Val)
c.1169G>T (p.Gly390Val)
c.1103G>T (p.Gly368Val)
dbSNP gnomAD v2 gnomAD v4
4g.16006616C=CA1440916689PROM1c.1376G= (p.Gly459=)
c.*1059G= (n.*1059G=)
c.1349G= (p.Gly450=)
c.1434G=
c.1142G= (p.Gly381=)
c.1169G= (p.Gly390=)
c.1103G= (p.Gly368=)
4g.16006616C>GCA356435365PROM1c.1376G>C (p.Gly459Ala)
c.*1059G>C (n.*1059G>C)
c.1349G>C (p.Gly450Ala)
c.1434G>C
c.1142G>C (p.Gly381Ala)
c.1169G>C (p.Gly390Ala)
c.1103G>C (p.Gly368Ala)
dbSNP gnomAD v2 gnomAD v4
4g.16006616C>TCA356435363PROM1c.1376G>A (p.Gly459Asp)
c.*1059G>A (n.*1059G>A)
c.1349G>A (p.Gly450Asp)
c.1434G>A
c.1142G>A (p.Gly381Asp)
c.1169G>A (p.Gly390Asp)
c.1103G>A (p.Gly368Asp)
4g.16006617C>ACA356435367PROM1c.1375G>T (p.Gly459Cys)
c.*1058G>T (n.*1058G>T)
c.1348G>T (p.Gly450Cys)
c.1433G>T
c.1141G>T (p.Gly381Cys)
c.1168G>T (p.Gly390Cys)
c.1102G>T (p.Gly368Cys)
4g.16006617C>GCA356435369PROM1c.1375G>C (p.Gly459Arg)
c.*1058G>C (n.*1058G>C)
c.1348G>C (p.Gly450Arg)
c.1433G>C
c.1141G>C (p.Gly381Arg)
c.1168G>C (p.Gly390Arg)
c.1102G>C (p.Gly368Arg)
4g.16006617C>TCA356435370PROM1c.1375G>A (p.Gly459Ser)
c.*1058G>A (n.*1058G>A)
c.1348G>A (p.Gly450Ser)
c.1433G>A
c.1141G>A (p.Gly381Ser)
c.1168G>A (p.Gly390Ser)
c.1102G>A (p.Gly368Ser)
4g.16006618A>CCA356435372PROM1c.1374T>G (p.Cys458Trp)
c.*1057T>G (n.*1057T>G)
c.1347T>G (p.Cys449Trp)
c.1432T>G
c.1140T>G (p.Cys380Trp)
c.1167T>G (p.Cys389Trp)
c.1101T>G (p.Cys367Trp)
4g.16006618A>GCA438386872PROM1c.1374T>C (p.Cys458=)
c.*1057T>C (n.*1057T>C)
c.1347T>C (p.Cys449=)
c.1432T>C
c.1140T>C (p.Cys380=)
c.1167T>C (p.Cys389=)
c.1101T>C (p.Cys367=)
4g.16006618A>TCA356435373PROM1c.1374T>A (p.Cys458Ter)
c.*1057T>A (n.*1057T>A)
c.1347T>A (p.Cys449Ter)
c.1432T>A
c.1140T>A (p.Cys380Ter)
c.1167T>A (p.Cys389Ter)
c.1101T>A (p.Cys367Ter)
4g.16006619C>ACA356435376PROM1c.1373G>T (p.Cys458Phe)
c.*1056G>T (n.*1056G>T)
c.1346G>T (p.Cys449Phe)
c.1431G>T
c.1139G>T (p.Cys380Phe)
c.1166G>T (p.Cys389Phe)
c.1100G>T (p.Cys367Phe)
4g.16006619C=CA1440916690PROM1c.1373G= (p.Cys458=)
c.*1056G= (n.*1056G=)
c.1346G= (p.Cys449=)
c.1431G=
c.1139G= (p.Cys380=)
c.1166G= (p.Cys389=)
c.1100G= (p.Cys367=)
4g.16006619C>GCA356435378PROM1c.1373G>C (p.Cys458Ser)
c.*1056G>C (n.*1056G>C)
c.1346G>C (p.Cys449Ser)
c.1431G>C
c.1139G>C (p.Cys380Ser)
c.1166G>C (p.Cys389Ser)
c.1100G>C (p.Cys367Ser)
4g.16006619C>TCA2866790PROM1c.1373G>A (p.Cys458Tyr)
c.*1056G>A (n.*1056G>A)
c.1346G>A (p.Cys449Tyr)
c.1431G>A
c.1139G>A (p.Cys380Tyr)
c.1166G>A (p.Cys389Tyr)
c.1100G>A (p.Cys367Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.16006620A>CCA356435381PROM1c.1372T>G (p.Cys458Gly)
c.*1055T>G (n.*1055T>G)
c.1345T>G (p.Cys449Gly)
c.1430T>G
c.1138T>G (p.Cys380Gly)
c.1165T>G (p.Cys389Gly)
c.1099T>G (p.Cys367Gly)
4g.16006620A>GCA356435383PROM1c.1372T>C (p.Cys458Arg)
c.*1055T>C (n.*1055T>C)
c.1345T>C (p.Cys449Arg)
c.1430T>C
c.1138T>C (p.Cys380Arg)
c.1165T>C (p.Cys389Arg)
c.1099T>C (p.Cys367Arg)
4g.16006620A>TCA356435384PROM1c.1372T>A (p.Cys458Ser)
c.*1055T>A (n.*1055T>A)
c.1345T>A (p.Cys449Ser)
c.1430T>A
c.1138T>A (p.Cys380Ser)
c.1165T>A (p.Cys389Ser)
c.1099T>A (p.Cys367Ser)
4g.16006621C>ACA438386876PROM1c.1371G>T (p.Leu457=)
c.*1054G>T (n.*1054G>T)
c.1344G>T (p.Leu448=)
c.1429G>T
c.1137G>T (p.Leu379=)
c.1164G>T (p.Leu388=)
c.1098G>T (p.Leu366=)
gnomAD v4
4g.16006621C>GCA438386877PROM1c.1371G>C (p.Leu457=)
c.*1054G>C (n.*1054G>C)
c.1344G>C (p.Leu448=)
c.1429G>C
c.1137G>C (p.Leu379=)
c.1164G>C (p.Leu388=)
c.1098G>C (p.Leu366=)
4g.16006621C>TCA438386878PROM1c.1371G>A (p.Leu457=)
c.*1054G>A (n.*1054G>A)
c.1344G>A (p.Leu448=)
c.1429G>A
c.1137G>A (p.Leu379=)
c.1164G>A (p.Leu388=)
c.1098G>A (p.Leu366=)
gnomAD v4
4g.16006622A=CA1440916691PROM1c.1370T= (p.Leu457=)
c.*1053T= (n.*1053T=)
c.1343T= (p.Leu448=)
c.1428T=
c.1136T= (p.Leu379=)
c.1163T= (p.Leu388=)
c.1097T= (p.Leu366=)
4g.16006622A>CCA356435386PROM1c.1370T>G (p.Leu457Arg)
c.*1053T>G (n.*1053T>G)
c.1343T>G (p.Leu448Arg)
c.1428T>G
c.1136T>G (p.Leu379Arg)
c.1163T>G (p.Leu388Arg)
c.1097T>G (p.Leu366Arg)
4g.16006622A>GCA2866791PROM1c.1370T>C (p.Leu457Pro)
c.*1053T>C (n.*1053T>C)
c.1343T>C (p.Leu448Pro)
c.1428T>C
c.1136T>C (p.Leu379Pro)
c.1163T>C (p.Leu388Pro)
c.1097T>C (p.Leu366Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.16006622A>TCA356435385PROM1c.1370T>A (p.Leu457Gln)
c.*1053T>A (n.*1053T>A)
c.1343T>A (p.Leu448Gln)
c.1428T>A
c.1136T>A (p.Leu379Gln)
c.1163T>A (p.Leu388Gln)
c.1097T>A (p.Leu366Gln)
4g.16006623G>ACA438386883PROM1c.1369C>T (p.Leu457=)
c.*1052C>T (n.*1052C>T)
c.1342C>T (p.Leu448=)
c.1427C>T
c.1135C>T (p.Leu379=)
c.1162C>T (p.Leu388=)
c.1096C>T (p.Leu366=)
4g.16006623G>CCA356435391PROM1c.1369C>G (p.Leu457Val)
c.*1052C>G (n.*1052C>G)
c.1342C>G (p.Leu448Val)
c.1427C>G
c.1135C>G (p.Leu379Val)
c.1162C>G (p.Leu388Val)
c.1096C>G (p.Leu366Val)
4g.16006623G>TCA356435388PROM1c.1369C>A (p.Leu457Met)
c.*1052C>A (n.*1052C>A)
c.1342C>A (p.Leu448Met)
c.1427C>A
c.1135C>A (p.Leu379Met)
c.1162C>A (p.Leu388Met)
c.1096C>A (p.Leu366Met)
4g.16006624T>ACA356435393PROM1c.1368A>T (p.Leu456Phe)
c.*1051A>T (n.*1051A>T)
c.1341A>T (p.Leu447Phe)
c.1426A>T
c.1134A>T (p.Leu378Phe)
c.1161A>T (p.Leu387Phe)
c.1095A>T (p.Leu365Phe)
4g.16006624T>CCA438386884PROM1c.1368A>G (p.Leu456=)
c.*1051A>G (n.*1051A>G)
c.1341A>G (p.Leu447=)
c.1426A>G
c.1134A>G (p.Leu378=)
c.1161A>G (p.Leu387=)
c.1095A>G (p.Leu365=)
dbSNP gnomAD v2 gnomAD v4
4g.16006624T>GCA356435396PROM1c.1368A>C (p.Leu456Phe)
c.*1051A>C (n.*1051A>C)
c.1341A>C (p.Leu447Phe)
c.1426A>C
c.1134A>C (p.Leu378Phe)
c.1161A>C (p.Leu387Phe)
c.1095A>C (p.Leu365Phe)
gnomAD v4
4g.16006624T=CA1440916692PROM1c.1368A= (p.Leu456=)
c.*1051A= (n.*1051A=)
c.1341A= (p.Leu447=)
c.1426A=
c.1134A= (p.Leu378=)
c.1161A= (p.Leu387=)
c.1095A= (p.Leu365=)
4g.16006625A>CCA356435398PROM1c.1367T>G (p.Leu456Ter)
c.*1050T>G (n.*1050T>G)
c.1340T>G (p.Leu447Ter)
c.1425T>G
c.1133T>G (p.Leu378Ter)
c.1160T>G (p.Leu387Ter)
c.1094T>G (p.Leu365Ter)
4g.16006625A>GCA356435399PROM1c.1367T>C (p.Leu456Ser)
c.*1050T>C (n.*1050T>C)
c.1340T>C (p.Leu447Ser)
c.1425T>C
c.1133T>C (p.Leu378Ser)
c.1160T>C (p.Leu387Ser)
c.1094T>C (p.Leu365Ser)
4g.16006625A>TCA356435400PROM1c.1367T>A (p.Leu456Ter)
c.*1050T>A (n.*1050T>A)
c.1340T>A (p.Leu447Ter)
c.1425T>A
c.1133T>A (p.Leu378Ter)
c.1160T>A (p.Leu387Ter)
c.1094T>A (p.Leu365Ter)
4g.16006626A>CCA356435402PROM1c.1366T>G (p.Leu456Val)
c.*1049T>G (n.*1049T>G)
c.1339T>G (p.Leu447Val)
c.1424T>G
c.1132T>G (p.Leu378Val)
c.1159T>G (p.Leu387Val)
c.1093T>G (p.Leu365Val)
4g.16006626A>GCA438386885PROM1c.1366T>C (p.Leu456=)
c.*1049T>C (n.*1049T>C)
c.1339T>C (p.Leu447=)
c.1424T>C
c.1132T>C (p.Leu378=)
c.1159T>C (p.Leu387=)
c.1093T>C (p.Leu365=)
4g.16006626A>TCA356435401PROM1c.1366T>A (p.Leu456Ile)
c.*1049T>A (n.*1049T>A)
c.1339T>A (p.Leu447Ile)
c.1424T>A
c.1132T>A (p.Leu378Ile)
c.1159T>A (p.Leu387Ile)
c.1093T>A (p.Leu365Ile)
4g.16006628_16006636delCA2760553877PROM1c.1358_1366del (p.Tyr453_Gly455del)
c.*1041_*1049del (n.*1041_*1049del)
c.1331_1339del (p.Tyr444_Gly446del)
c.1416_1424del
c.1124_1132del (p.Tyr375_Gly377del)
c.1151_1159del (p.Tyr384_Gly386del)
c.1085_1093del (p.Tyr362_Gly364del)
4g.16006627G>ACA438386886PROM1c.1365C>T (p.Gly455=)
c.*1048C>T (n.*1048C>T)
c.1338C>T (p.Gly446=)
c.1423C>T
c.1131C>T (p.Gly377=)
c.1158C>T (p.Gly386=)
c.1092C>T (p.Gly364=)
gnomAD v4
4g.16006627G>CCA438386887PROM1c.1365C>G (p.Gly455=)
c.*1048C>G (n.*1048C>G)
c.1338C>G (p.Gly446=)
c.1423C>G
c.1131C>G (p.Gly377=)
c.1158C>G (p.Gly386=)
c.1092C>G (p.Gly364=)
4g.16006627G>TCA438386888PROM1c.1365C>A (p.Gly455=)
c.*1048C>A (n.*1048C>A)
c.1338C>A (p.Gly446=)
c.1423C>A
c.1131C>A (p.Gly377=)
c.1158C>A (p.Gly386=)
c.1092C>A (p.Gly364=)
4g.16006628C>ACA356435405PROM1c.1364G>T (p.Gly455Val)
c.*1047G>T (n.*1047G>T)
c.1337G>T (p.Gly446Val)
c.1422G>T
c.1130G>T (p.Gly377Val)
c.1157G>T (p.Gly386Val)
c.1091G>T (p.Gly364Val)
gnomAD v4
4g.16006628C=CA1440916693PROM1c.1364G= (p.Gly455=)
c.*1047G= (n.*1047G=)
c.1337G= (p.Gly446=)
c.1422G=
c.1130G= (p.Gly377=)
c.1157G= (p.Gly386=)
c.1091G= (p.Gly364=)
4g.16006628C>GCA356435406PROM1c.1364G>C (p.Gly455Ala)
c.*1047G>C (n.*1047G>C)
c.1337G>C (p.Gly446Ala)
c.1422G>C
c.1130G>C (p.Gly377Ala)
c.1157G>C (p.Gly386Ala)
c.1091G>C (p.Gly364Ala)
4g.16006628C>TCA356435407PROM1c.1364G>A (p.Gly455Asp)
c.*1047G>A (n.*1047G>A)
c.1337G>A (p.Gly446Asp)
c.1422G>A
c.1130G>A (p.Gly377Asp)
c.1157G>A (p.Gly386Asp)
c.1091G>A (p.Gly364Asp)
dbSNP
4g.16006629C>ACA92594578PROM1c.1363G>T (p.Gly455Cys)
c.*1046G>T (n.*1046G>T)
c.1336G>T (p.Gly446Cys)
c.1421G>T
c.1129G>T (p.Gly377Cys)
c.1156G>T (p.Gly386Cys)
c.1090G>T (p.Gly364Cys)
dbSNP gnomAD v4
4g.16006629C=CA1440916694PROM1c.1363G= (p.Gly455=)
c.*1046G= (n.*1046G=)
c.1336G= (p.Gly446=)
c.1421G=
c.1129G= (p.Gly377=)
c.1156G= (p.Gly386=)
c.1090G= (p.Gly364=)
4g.16006629C>GCA356435408PROM1c.1363G>C (p.Gly455Arg)
c.*1046G>C (n.*1046G>C)
c.1336G>C (p.Gly446Arg)
c.1421G>C
c.1129G>C (p.Gly377Arg)
c.1156G>C (p.Gly386Arg)
c.1090G>C (p.Gly364Arg)
ClinVar
4g.16006629C>TCA356435413PROM1c.1363G>A (p.Gly455Ser)
c.*1046G>A (n.*1046G>A)
c.1336G>A (p.Gly446Ser)
c.1421G>A
c.1129G>A (p.Gly377Ser)
c.1156G>A (p.Gly386Ser)
c.1090G>A (p.Gly364Ser)
4g.16006630C>ACA438386892PROM1c.1362G>T (p.Leu454=)
c.*1045G>T (n.*1045G>T)
c.1335G>T (p.Leu445=)
c.1420G>T
c.1128G>T (p.Leu376=)
c.1155G>T (p.Leu385=)
c.1089G>T (p.Leu363=)
4g.16006630C>GCA438386893PROM1c.1362G>C (p.Leu454=)
c.*1045G>C (n.*1045G>C)
c.1335G>C (p.Leu445=)
c.1420G>C
c.1128G>C (p.Leu376=)
c.1155G>C (p.Leu385=)
c.1089G>C (p.Leu363=)
4g.16006630C>TCA438386894PROM1c.1362G>A (p.Leu454=)
c.*1045G>A (n.*1045G>A)
c.1335G>A (p.Leu445=)
c.1420G>A
c.1128G>A (p.Leu376=)
c.1155G>A (p.Leu385=)
c.1089G>A (p.Leu363=)

Number of alleles fetched