Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45505155C>ACA512687218COL18A1,SLC19A1c.3430C>A (p.Arg1144=)
c.2890C>A (p.Arg964=)
c.931C>A (p.Arg311=)
c.4135C>A (p.Arg1379=)
c.498-6543G>T
c.1294-6543G>T (n.1294-6543G>T)
c.3421C>A (p.Arg1141=)
c.4126C>A (p.Arg1376=)
c.2881C>A (p.Arg961=)
c.1585-2186G>T (n.1585-2186G>T)
21g.45505155C=CA2392191201COL18A1,SLC19A1c.3430C= (p.Arg1144=)
c.2890C= (p.Arg964=)
c.931C= (p.Arg311=)
c.4135C= (p.Arg1379=)
c.498-6543G=
c.1294-6543G= (n.1294-6543G=)
c.3421C= (p.Arg1141=)
c.4126C= (p.Arg1376=)
c.2881C= (p.Arg961=)
c.1585-2186G= (n.1585-2186G=)
21g.45505155C>GCA410499419COL18A1,SLC19A1c.3430C>G (p.Arg1144Gly)
c.2890C>G (p.Arg964Gly)
c.931C>G (p.Arg311Gly)
c.4135C>G (p.Arg1379Gly)
c.498-6543G>C
c.1294-6543G>C (n.1294-6543G>C)
c.3421C>G (p.Arg1141Gly)
c.4126C>G (p.Arg1376Gly)
c.2881C>G (p.Arg961Gly)
c.1585-2186G>C (n.1585-2186G>C)
 gnomAD v4
21g.45505155C>TCA10067540COL18A1,SLC19A1c.3430C>T (p.Arg1144Trp)
c.2890C>T (p.Arg964Trp)
c.931C>T (p.Arg311Trp)
c.4135C>T (p.Arg1379Trp)
c.498-6543G>A
c.1294-6543G>A (n.1294-6543G>A)
c.3421C>T (p.Arg1141Trp)
c.4126C>T (p.Arg1376Trp)
c.2881C>T (p.Arg961Trp)
c.1585-2186G>A (n.1585-2186G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505156G>ACA10067541COL18A1,SLC19A1c.3431G>A (p.Arg1144Gln)
c.2891G>A (p.Arg964Gln)
c.932G>A (p.Arg311Gln)
c.4136G>A (p.Arg1379Gln)
c.498-6544C>T
c.1294-6544C>T (n.1294-6544C>T)
c.3422G>A (p.Arg1141Gln)
c.4127G>A (p.Arg1376Gln)
c.2882G>A (p.Arg961Gln)
c.1585-2187C>T (n.1585-2187C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505156G>CCA321921423COL18A1,SLC19A1c.3431G>C (p.Arg1144Pro)
c.2891G>C (p.Arg964Pro)
c.932G>C (p.Arg311Pro)
c.4136G>C (p.Arg1379Pro)
c.498-6544C>G
c.1294-6544C>G (n.1294-6544C>G)
c.3422G>C (p.Arg1141Pro)
c.4127G>C (p.Arg1376Pro)
c.2882G>C (p.Arg961Pro)
c.1585-2187C>G (n.1585-2187C>G)
 dbSNP
21g.45505156G=CA2392191202COL18A1,SLC19A1c.3431G= (p.Arg1144=)
c.2891G= (p.Arg964=)
c.932G= (p.Arg311=)
c.4136G= (p.Arg1379=)
c.498-6544C=
c.1294-6544C= (n.1294-6544C=)
c.3422G= (p.Arg1141=)
c.4127G= (p.Arg1376=)
c.2882G= (p.Arg961=)
c.1585-2187C= (n.1585-2187C=)
21g.45505156G>TCA410499420COL18A1,SLC19A1c.3431G>T (p.Arg1144Leu)
c.2891G>T (p.Arg964Leu)
c.932G>T (p.Arg311Leu)
c.4136G>T (p.Arg1379Leu)
c.498-6544C>A
c.1294-6544C>A (n.1294-6544C>A)
c.3422G>T (p.Arg1141Leu)
c.4127G>T (p.Arg1376Leu)
c.2882G>T (p.Arg961Leu)
c.1585-2187C>A (n.1585-2187C>A)
 gnomAD v4
21g.45505159dupCA2654919194COL18A1,SLC19A1c.3434dup (p.Gln1146ProfsTer?)
c.2894dup (p.Gln966ProfsTer?)
c.935dup (p.Gln313ProfsTer?)
c.4139dup (p.Gln1381ProfsTer?)
c.498-6544dup
c.1294-6544dup (n.1294-6544dup)
c.3425dup (p.Gln1143ProfsTer?)
c.4130dup (p.Gln1378ProfsTer?)
c.2885dup (p.Gln963ProfsTer?)
c.1585-2187dup (n.1585-2187dup)
 gnomAD v4
21g.45505157G>ACA512687219COL18A1,SLC19A1c.3432G>A (p.Arg1144=)
c.2892G>A (p.Arg964=)
c.933G>A (p.Arg311=)
c.4137G>A (p.Arg1379=)
c.498-6545C>T
c.1294-6545C>T (n.1294-6545C>T)
c.3423G>A (p.Arg1141=)
c.4128G>A (p.Arg1376=)
c.2883G>A (p.Arg961=)
c.1585-2188C>T (n.1585-2188C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45505157G>CCA512687220COL18A1,SLC19A1c.3432G>C (p.Arg1144=)
c.2892G>C (p.Arg964=)
c.933G>C (p.Arg311=)
c.4137G>C (p.Arg1379=)
c.498-6545C>G
c.1294-6545C>G (n.1294-6545C>G)
c.3423G>C (p.Arg1141=)
c.4128G>C (p.Arg1376=)
c.2883G>C (p.Arg961=)
c.1585-2188C>G (n.1585-2188C>G)
21g.45505157G=CA2392191203COL18A1,SLC19A1c.3432G= (p.Arg1144=)
c.2892G= (p.Arg964=)
c.933G= (p.Arg311=)
c.4137G= (p.Arg1379=)
c.498-6545C=
c.1294-6545C= (n.1294-6545C=)
c.3423G= (p.Arg1141=)
c.4128G= (p.Arg1376=)
c.2883G= (p.Arg961=)
c.1585-2188C= (n.1585-2188C=)
21g.45505157G>TCA512687221COL18A1,SLC19A1c.3432G>T (p.Arg1144=)
c.2892G>T (p.Arg964=)
c.933G>T (p.Arg311=)
c.4137G>T (p.Arg1379=)
c.498-6545C>A
c.1294-6545C>A (n.1294-6545C>A)
c.3423G>T (p.Arg1141=)
c.4128G>T (p.Arg1376=)
c.2883G>T (p.Arg961=)
c.1585-2188C>A (n.1585-2188C>A)
 gnomAD v4
21g.45505158G>ACA10067542COL18A1,SLC19A1c.3433G>A (p.Gly1145Ser)
c.2893G>A (p.Gly965Ser)
c.934G>A (p.Gly312Ser)
c.4138G>A (p.Gly1380Ser)
c.498-6546C>T
c.1294-6546C>T (n.1294-6546C>T)
c.3424G>A (p.Gly1142Ser)
c.4129G>A (p.Gly1377Ser)
c.2884G>A (p.Gly962Ser)
c.1585-2189C>T (n.1585-2189C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505158G>CCA410499421COL18A1,SLC19A1c.3433G>C (p.Gly1145Arg)
c.2893G>C (p.Gly965Arg)
c.934G>C (p.Gly312Arg)
c.4138G>C (p.Gly1380Arg)
c.498-6546C>G
c.1294-6546C>G (n.1294-6546C>G)
c.3424G>C (p.Gly1142Arg)
c.4129G>C (p.Gly1377Arg)
c.2884G>C (p.Gly962Arg)
c.1585-2189C>G (n.1585-2189C>G)
21g.45505158G=CA2392191204COL18A1,SLC19A1c.3433G= (p.Gly1145=)
c.2893G= (p.Gly965=)
c.934G= (p.Gly312=)
c.4138G= (p.Gly1380=)
c.498-6546C=
c.1294-6546C= (n.1294-6546C=)
c.3424G= (p.Gly1142=)
c.4129G= (p.Gly1377=)
c.2884G= (p.Gly962=)
c.1585-2189C= (n.1585-2189C=)
21g.45505158G>TCA410499422COL18A1,SLC19A1c.3433G>T (p.Gly1145Cys)
c.2893G>T (p.Gly965Cys)
c.934G>T (p.Gly312Cys)
c.4138G>T (p.Gly1380Cys)
c.498-6546C>A
c.1294-6546C>A (n.1294-6546C>A)
c.3424G>T (p.Gly1142Cys)
c.4129G>T (p.Gly1377Cys)
c.2884G>T (p.Gly962Cys)
c.1585-2189C>A (n.1585-2189C>A)
21g.45505159G>ACA410499423COL18A1,SLC19A1c.3434G>A (p.Gly1145Asp)
c.2894G>A (p.Gly965Asp)
c.935G>A (p.Gly312Asp)
c.4139G>A (p.Gly1380Asp)
c.498-6547C>T
c.1294-6547C>T (n.1294-6547C>T)
c.3425G>A (p.Gly1142Asp)
c.4130G>A (p.Gly1377Asp)
c.2885G>A (p.Gly962Asp)
c.1585-2190C>T (n.1585-2190C>T)
 dbSNP
21g.45505159G>CCA410499425COL18A1,SLC19A1c.3434G>C (p.Gly1145Ala)
c.2894G>C (p.Gly965Ala)
c.935G>C (p.Gly312Ala)
c.4139G>C (p.Gly1380Ala)
c.498-6547C>G
c.1294-6547C>G (n.1294-6547C>G)
c.3425G>C (p.Gly1142Ala)
c.4130G>C (p.Gly1377Ala)
c.2885G>C (p.Gly962Ala)
c.1585-2190C>G (n.1585-2190C>G)
21g.45505159G=CA2392191205COL18A1,SLC19A1c.3434G= (p.Gly1145=)
c.2894G= (p.Gly965=)
c.935G= (p.Gly312=)
c.4139G= (p.Gly1380=)
c.498-6547C=
c.1294-6547C= (n.1294-6547C=)
c.3425G= (p.Gly1142=)
c.4130G= (p.Gly1377=)
c.2885G= (p.Gly962=)
c.1585-2190C= (n.1585-2190C=)
21g.45505159G>TCA410499424COL18A1,SLC19A1c.3434G>T (p.Gly1145Val)
c.2894G>T (p.Gly965Val)
c.935G>T (p.Gly312Val)
c.4139G>T (p.Gly1380Val)
c.498-6547C>A
c.1294-6547C>A (n.1294-6547C>A)
c.3425G>T (p.Gly1142Val)
c.4130G>T (p.Gly1377Val)
c.2885G>T (p.Gly962Val)
c.1585-2190C>A (n.1585-2190C>A)
21g.45505160C>ACA10067543COL18A1,SLC19A1c.3435C>A (p.Gly1145=)
c.2895C>A (p.Gly965=)
c.936C>A (p.Gly312=)
c.4140C>A (p.Gly1380=)
c.498-6548G>T
c.1294-6548G>T (n.1294-6548G>T)
c.3426C>A (p.Gly1142=)
c.4131C>A (p.Gly1377=)
c.2886C>A (p.Gly962=)
c.1585-2191G>T (n.1585-2191G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45505160C=CA2392191206COL18A1,SLC19A1c.3435C= (p.Gly1145=)
c.2895C= (p.Gly965=)
c.936C= (p.Gly312=)
c.4140C= (p.Gly1380=)
c.498-6548G=
c.1294-6548G= (n.1294-6548G=)
c.3426C= (p.Gly1142=)
c.4131C= (p.Gly1377=)
c.2886C= (p.Gly962=)
c.1585-2191G= (n.1585-2191G=)
21g.45505160C>GCA512687222COL18A1,SLC19A1c.3435C>G (p.Gly1145=)
c.2895C>G (p.Gly965=)
c.936C>G (p.Gly312=)
c.4140C>G (p.Gly1380=)
c.498-6548G>C
c.1294-6548G>C (n.1294-6548G>C)
c.3426C>G (p.Gly1142=)
c.4131C>G (p.Gly1377=)
c.2886C>G (p.Gly962=)
c.1585-2191G>C (n.1585-2191G>C)
 gnomAD v4
21g.45505160C>TCA512687223COL18A1,SLC19A1c.3435C>T (p.Gly1145=)
c.2895C>T (p.Gly965=)
c.936C>T (p.Gly312=)
c.4140C>T (p.Gly1380=)
c.498-6548G>A
c.1294-6548G>A (n.1294-6548G>A)
c.3426C>T (p.Gly1142=)
c.4131C>T (p.Gly1377=)
c.2886C>T (p.Gly962=)
c.1585-2191G>A (n.1585-2191G>A)
 gnomAD v4
21g.45505161C>ACA410499426COL18A1,SLC19A1c.3436C>A (p.Gln1146Lys)
c.2896C>A (p.Gln966Lys)
c.937C>A (p.Gln313Lys)
c.4141C>A (p.Gln1381Lys)
c.498-6549G>T
c.1294-6549G>T (n.1294-6549G>T)
c.3427C>A (p.Gln1143Lys)
c.4132C>A (p.Gln1378Lys)
c.2887C>A (p.Gln963Lys)
c.1585-2192G>T (n.1585-2192G>T)
 gnomAD v4
21g.45505161C=CA2392191207COL18A1,SLC19A1c.3436C= (p.Gln1146=)
c.2896C= (p.Gln966=)
c.937C= (p.Gln313=)
c.4141C= (p.Gln1381=)
c.498-6549G=
c.1294-6549G= (n.1294-6549G=)
c.3427C= (p.Gln1143=)
c.4132C= (p.Gln1378=)
c.2887C= (p.Gln963=)
c.1585-2192G= (n.1585-2192G=)
21g.45505161C>GCA410499427COL18A1,SLC19A1c.3436C>G (p.Gln1146Glu)
c.2896C>G (p.Gln966Glu)
c.937C>G (p.Gln313Glu)
c.4141C>G (p.Gln1381Glu)
c.498-6549G>C
c.1294-6549G>C (n.1294-6549G>C)
c.3427C>G (p.Gln1143Glu)
c.4132C>G (p.Gln1378Glu)
c.2887C>G (p.Gln963Glu)
c.1585-2192G>C (n.1585-2192G>C)
21g.45505161C>TCA321921427COL18A1,SLC19A1c.3436C>T (p.Gln1146Ter)
c.2896C>T (p.Gln966Ter)
c.937C>T (p.Gln313Ter)
c.4141C>T (p.Gln1381Ter)
c.498-6549G>A
c.1294-6549G>A (n.1294-6549G>A)
c.3427C>T (p.Gln1143Ter)
c.4132C>T (p.Gln1378Ter)
c.2887C>T (p.Gln963Ter)
c.1585-2192G>A (n.1585-2192G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45505162A>CCA410499428COL18A1,SLC19A1c.3437A>C (p.Gln1146Pro)
c.2897A>C (p.Gln966Pro)
c.938A>C (p.Gln313Pro)
c.4142A>C (p.Gln1381Pro)
c.498-6550T>G
c.1294-6550T>G (n.1294-6550T>G)
c.3428A>C (p.Gln1143Pro)
c.4133A>C (p.Gln1378Pro)
c.2888A>C (p.Gln963Pro)
c.1585-2193T>G (n.1585-2193T>G)
21g.45505162A>GCA410499429COL18A1,SLC19A1c.3437A>G (p.Gln1146Arg)
c.2897A>G (p.Gln966Arg)
c.938A>G (p.Gln313Arg)
c.4142A>G (p.Gln1381Arg)
c.498-6550T>C
c.1294-6550T>C (n.1294-6550T>C)
c.3428A>G (p.Gln1143Arg)
c.4133A>G (p.Gln1378Arg)
c.2888A>G (p.Gln963Arg)
c.1585-2193T>C (n.1585-2193T>C)
21g.45505162A>TCA410499430COL18A1,SLC19A1c.3437A>T (p.Gln1146Leu)
c.2897A>T (p.Gln966Leu)
c.938A>T (p.Gln313Leu)
c.4142A>T (p.Gln1381Leu)
c.498-6550T>A
c.1294-6550T>A (n.1294-6550T>A)
c.3428A>T (p.Gln1143Leu)
c.4133A>T (p.Gln1378Leu)
c.2888A>T (p.Gln963Leu)
c.1585-2193T>A (n.1585-2193T>A)
21g.45505163G>ACA512687224COL18A1,SLC19A1c.3438G>A (p.Gln1146=)
c.2898G>A (p.Gln966=)
c.939G>A (p.Gln313=)
c.4143G>A (p.Gln1381=)
c.498-6551C>T
c.1294-6551C>T (n.1294-6551C>T)
c.3429G>A (p.Gln1143=)
c.4134G>A (p.Gln1378=)
c.2889G>A (p.Gln963=)
c.1585-2194C>T (n.1585-2194C>T)
 gnomAD v4
21g.45505163G>CCA410499431COL18A1,SLC19A1c.3438G>C (p.Gln1146His)
c.2898G>C (p.Gln966His)
c.939G>C (p.Gln313His)
c.4143G>C (p.Gln1381His)
c.498-6551C>G
c.1294-6551C>G (n.1294-6551C>G)
c.3429G>C (p.Gln1143His)
c.4134G>C (p.Gln1378His)
c.2889G>C (p.Gln963His)
c.1585-2194C>G (n.1585-2194C>G)
21g.45505163G>TCA410499432COL18A1,SLC19A1c.3438G>T (p.Gln1146His)
c.2898G>T (p.Gln966His)
c.939G>T (p.Gln313His)
c.4143G>T (p.Gln1381His)
c.498-6551C>A
c.1294-6551C>A (n.1294-6551C>A)
c.3429G>T (p.Gln1143His)
c.4134G>T (p.Gln1378His)
c.2889G>T (p.Gln963His)
c.1585-2194C>A (n.1585-2194C>A)
 gnomAD v4
21g.45505163_45505223delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCA2392191208COL18A1,SLC19A1c.3438_3498delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1146=)
c.2898_2958delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln966=)
c.939_999delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln313=)
c.4143_4203delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1381=)
c.498-6611_498-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC
c.1294-6611_1294-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC (n.1294-6611_1294-6551delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC)
c.3429_3489delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1143=)
c.4134_4194delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln1378=)
c.2889_2949delinsGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCT (p.Gln963=)
c.1585-2254_1585-2194delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC (n.1585-2254_1585-2194delinsAGGGCCCTGGCGCCCCTCGTAGCCGATGCCGGGGGGTCCCTGAGGTCCAGGTGGGCCGGGC)
21g.45505164C>ACA410499433COL18A1,SLC19A1c.3439C>A (p.Pro1147Thr)
c.2899C>A (p.Pro967Thr)
c.940C>A (p.Pro314Thr)
c.4144C>A (p.Pro1382Thr)
c.498-6552G>T
c.1294-6552G>T (n.1294-6552G>T)
c.3430C>A (p.Pro1144Thr)
c.4135C>A (p.Pro1379Thr)
c.2890C>A (p.Pro964Thr)
c.1585-2195G>T (n.1585-2195G>T)
21g.45505164C=CA2392191209COL18A1,SLC19A1c.3439C= (p.Pro1147=)
c.2899C= (p.Pro967=)
c.940C= (p.Pro314=)
c.4144C= (p.Pro1382=)
c.498-6552G=
c.1294-6552G= (n.1294-6552G=)
c.3430C= (p.Pro1144=)
c.4135C= (p.Pro1379=)
c.2890C= (p.Pro964=)
c.1585-2195G= (n.1585-2195G=)
21g.45505164C>GCA410499434COL18A1,SLC19A1c.3439C>G (p.Pro1147Ala)
c.2899C>G (p.Pro967Ala)
c.940C>G (p.Pro314Ala)
c.4144C>G (p.Pro1382Ala)
c.498-6552G>C
c.1294-6552G>C (n.1294-6552G>C)
c.3430C>G (p.Pro1144Ala)
c.4135C>G (p.Pro1379Ala)
c.2890C>G (p.Pro964Ala)
c.1585-2195G>C (n.1585-2195G>C)
21g.45505164C>TCA10067545COL18A1,SLC19A1c.3439C>T (p.Pro1147Ser)
c.2899C>T (p.Pro967Ser)
c.940C>T (p.Pro314Ser)
c.4144C>T (p.Pro1382Ser)
c.498-6552G>A
c.1294-6552G>A (n.1294-6552G>A)
c.3430C>T (p.Pro1144Ser)
c.4135C>T (p.Pro1379Ser)
c.2890C>T (p.Pro964Ser)
c.1585-2195G>A (n.1585-2195G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505172_45505231delCA10067544COL18A1,SLC19A1c.3447_3506del (p.Pro1150_Pro1169del)
c.2907_2966del (p.Pro970_Pro989del)
c.948_1007del (p.Pro317_Pro336del)
c.4152_4211del (p.Pro1385_Pro1404del)
c.498-6611_498-6552del
c.1294-6611_1294-6552del (n.1294-6611_1294-6552del)
c.3438_3497del (p.Pro1147_Pro1166del)
c.4143_4202del (p.Pro1382_Pro1401del)
c.2898_2957del (p.Pro967_Pro986del)
c.1585-2254_1585-2195del (n.1585-2254_1585-2195del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505165C>ACA410499435COL18A1,SLC19A1c.3440C>A (p.Pro1147His)
c.2900C>A (p.Pro967His)
c.941C>A (p.Pro314His)
c.4145C>A (p.Pro1382His)
c.498-6553G>T
c.1294-6553G>T (n.1294-6553G>T)
c.3431C>A (p.Pro1144His)
c.4136C>A (p.Pro1379His)
c.2891C>A (p.Pro964His)
c.1585-2196G>T (n.1585-2196G>T)
 gnomAD v4
21g.45505165C>GCA410499436COL18A1,SLC19A1c.3440C>G (p.Pro1147Arg)
c.2900C>G (p.Pro967Arg)
c.941C>G (p.Pro314Arg)
c.4145C>G (p.Pro1382Arg)
c.498-6553G>C
c.1294-6553G>C (n.1294-6553G>C)
c.3431C>G (p.Pro1144Arg)
c.4136C>G (p.Pro1379Arg)
c.2891C>G (p.Pro964Arg)
c.1585-2196G>C (n.1585-2196G>C)
21g.45505165C>TCA410499437COL18A1,SLC19A1c.3440C>T (p.Pro1147Leu)
c.2900C>T (p.Pro967Leu)
c.941C>T (p.Pro314Leu)
c.4145C>T (p.Pro1382Leu)
c.498-6553G>A
c.1294-6553G>A (n.1294-6553G>A)
c.3431C>T (p.Pro1144Leu)
c.4136C>T (p.Pro1379Leu)
c.2891C>T (p.Pro964Leu)
c.1585-2196G>A (n.1585-2196G>A)
21g.45505166C>ACA512687225COL18A1,SLC19A1c.3441C>A (p.Pro1147=)
c.2901C>A (p.Pro967=)
c.942C>A (p.Pro314=)
c.4146C>A (p.Pro1382=)
c.498-6554G>T
c.1294-6554G>T (n.1294-6554G>T)
c.3432C>A (p.Pro1144=)
c.4137C>A (p.Pro1379=)
c.2892C>A (p.Pro964=)
c.1585-2197G>T (n.1585-2197G>T)
 gnomAD v4
21g.45505166C=CA2392191210COL18A1,SLC19A1c.3441C= (p.Pro1147=)
c.2901C= (p.Pro967=)
c.942C= (p.Pro314=)
c.4146C= (p.Pro1382=)
c.498-6554G=
c.1294-6554G= (n.1294-6554G=)
c.3432C= (p.Pro1144=)
c.4137C= (p.Pro1379=)
c.2892C= (p.Pro964=)
c.1585-2197G= (n.1585-2197G=)
21g.45505166C>GCA10067546COL18A1,SLC19A1c.3441C>G (p.Pro1147=)
c.2901C>G (p.Pro967=)
c.942C>G (p.Pro314=)
c.4146C>G (p.Pro1382=)
c.498-6554G>C
c.1294-6554G>C (n.1294-6554G>C)
c.3432C>G (p.Pro1144=)
c.4137C>G (p.Pro1379=)
c.2892C>G (p.Pro964=)
c.1585-2197G>C (n.1585-2197G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45505166C>TCA512687226COL18A1,SLC19A1c.3441C>T (p.Pro1147=)
c.2901C>T (p.Pro967=)
c.942C>T (p.Pro314=)
c.4146C>T (p.Pro1382=)
c.498-6554G>A
c.1294-6554G>A (n.1294-6554G>A)
c.3432C>T (p.Pro1144=)
c.4137C>T (p.Pro1379=)
c.2892C>T (p.Pro964=)
c.1585-2197G>A (n.1585-2197G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45505167G>ACA10067547COL18A1,SLC19A1c.3442G>A (p.Gly1148Ser)
c.2902G>A (p.Gly968Ser)
c.943G>A (p.Gly315Ser)
c.4147G>A (p.Gly1383Ser)
c.498-6555C>T
c.1294-6555C>T (n.1294-6555C>T)
c.3433G>A (p.Gly1145Ser)
c.4138G>A (p.Gly1380Ser)
c.2893G>A (p.Gly965Ser)
c.1585-2198C>T (n.1585-2198C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.45505167G>CCA410499438COL18A1,SLC19A1c.3442G>C (p.Gly1148Arg)
c.2902G>C (p.Gly968Arg)
c.943G>C (p.Gly315Arg)
c.4147G>C (p.Gly1383Arg)
c.498-6555C>G
c.1294-6555C>G (n.1294-6555C>G)
c.3433G>C (p.Gly1145Arg)
c.4138G>C (p.Gly1380Arg)
c.2893G>C (p.Gly965Arg)
c.1585-2198C>G (n.1585-2198C>G)

Number of alleles fetched