| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41869091_41869108del | CA2695228814 | RPS19 | c.246_263del (p.Asp82_Ser87del) c.233_250del (p.Ile78_Gln83del) c.11_28del (p.Ile4_Gln9del) c.1071_1088del (n.1071_1088del) | |
| 19 | g.41869096G>A | CA406030204 | RPS19 | c.251G>A (p.Trp84Ter) c.238G>A (p.Gly80Arg) c.16G>A (p.Gly6Arg) c.1076G>A (n.1076G>A) | |
| 19 | g.41869096G>C | CA406030206 | RPS19 | c.251G>C (p.Trp84Ser) c.238G>C (p.Gly80Arg) c.16G>C (p.Gly6Arg) c.1076G>C (n.1076G>C) | |
| 19 | g.41869096G>T | CA406030208 | RPS19 | c.251G>T (p.Trp84Leu) c.238G>T (p.Gly80Trp) c.16G>T (p.Gly6Trp) c.1076G>T (n.1076G>T) | |
| 19 | g.41869100dup | CA2695228816 | RPS19 | c.255dup (p.Thr86AspfsTer?) c.242dup (p.Arg82ThrfsTer?) c.20dup (p.Arg8ThrfsTer?) c.1080dup (n.1080dup) c.255dup (p.Thr86AspfsTer30) | |
| 19 | g.41869100del | CA2695228815 | RPS19 | c.255del (p.Thr86ArgfsTer?) c.242del (p.Gly81AspfsTer30) c.20del (p.Gly7AspfsTer30) c.1080del (n.1080del) | |
| 19 | g.41869097G>A | CA406030211 | RPS19 | c.252G>A (p.Trp84Ter) c.239G>A (p.Gly80Glu) c.17G>A (p.Gly6Glu) c.1077G>A (n.1077G>A) | |
| 19 | g.41869097G>C | CA406030213 | RPS19 | c.252G>C (p.Trp84Cys) c.239G>C (p.Gly80Ala) c.17G>C (p.Gly6Ala) c.1077G>C (n.1077G>C) | |
| 19 | g.41869097G>T | CA406030215 | RPS19 | c.252G>T (p.Trp84Cys) c.239G>T (p.Gly80Val) c.17G>T (p.Gly6Val) c.1077G>T (n.1077G>T) | |
| 19 | g.41869098G>A | CA9465353 | RPS19 | c.253G>A (p.Gly85Arg) c.240G>A (p.Gly80=) c.18G>A (p.Gly6=) c.1078G>A (n.1078G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41869098G>C | CA406030219 | RPS19 | c.253G>C (p.Gly85Arg) c.240G>C (p.Gly80=) c.18G>C (p.Gly6=) c.1078G>C (n.1078G>C) | |
| 19 | g.41869098G= | CA2336668872 | RPS19 | c.253G= (p.Gly85=) c.240G= (p.Gly80=) c.18G= (p.Gly6=) c.1078G= (n.1078G=) | |
| 19 | g.41869098G>T | CA406030220 | RPS19 | c.253G>T (p.Gly85Trp) c.240G>T (p.Gly80=) c.18G>T (p.Gly6=) c.1078G>T (n.1078G>T) | |
| 19 | g.41869099G>A | CA406030223 | RPS19 | c.254G>A (p.Gly85Glu) c.241G>A (p.Gly81Arg) c.19G>A (p.Gly7Arg) c.1079G>A (n.1079G>A) | |
| 19 | g.41869099G>C | CA406030226 | RPS19 | c.254G>C (p.Gly85Ala) c.241G>C (p.Gly81Arg) c.19G>C (p.Gly7Arg) c.1079G>C (n.1079G>C) | |
| 19 | g.41869099G>T | CA406030224 | RPS19 | c.254G>T (p.Gly85Val) c.241G>T (p.Gly81Ter) c.19G>T (p.Gly7Ter) c.1079G>T (n.1079G>T) | |
| 19 | g.41869100G>A | CA406030229 | RPS19 | c.255G>A (p.Gly85=) c.242G>A (p.Gly81Glu) c.20G>A (p.Gly7Glu) c.1080G>A (n.1080G>A) | |
| 19 | g.41869100G>C | CA406030230 | RPS19 | c.255G>C (p.Gly85=) c.242G>C (p.Gly81Ala) c.20G>C (p.Gly7Ala) c.1080G>C (n.1080G>C) | |
| 19 | g.41869100G>T | CA406030233 | RPS19 | c.255G>T (p.Gly85=) c.242G>T (p.Gly81Val) c.20G>T (p.Gly7Val) c.1080G>T (n.1080G>T) | |
| 19 | g.41869101A= | CA2336668873 | RPS19 | c.256A= (p.Thr86=) c.243A= (p.Gly81=) c.21A= (p.Gly7=) c.1081A= (n.1081A=) | |
| 19 | g.41869101A>C | CA406030235 | RPS19 | c.256A>C (p.Thr86Pro) c.243A>C (p.Gly81=) c.21A>C (p.Gly7=) c.1081A>C (n.1081A>C) | |
| 19 | g.41869101A>G | CA308568163 | RPS19 | c.256A>G (p.Thr86Ala) c.243A>G (p.Gly81=) c.21A>G (p.Gly7=) c.1081A>G (n.1081A>G) | dbSNP |
| 19 | g.41869101A>T | CA9465354 | RPS19 | c.256A>T (p.Thr86Ser) c.243A>T (p.Gly81=) c.21A>T (p.Gly7=) c.1081A>T (n.1081A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.41869101dup | CA2695228817 | RPS19 | c.256dup (p.Thr86AsnfsTer?) c.243dup (p.Arg82ThrfsTer?) c.21dup (p.Arg8ThrfsTer?) c.1081dup (n.1081dup) c.256dup (p.Thr86AsnfsTer30) | |
| 19 | g.41869102C>A | CA406030244 | RPS19 | c.257C>A (p.Thr86Lys) c.244C>A (p.Arg82Ser) c.22C>A (p.Arg8Ser) c.1082C>A (n.1082C>A) | |
| 19 | g.41869102C= | CA2336668874 | RPS19 | c.257C= (p.Thr86=) c.244C= (p.Arg82=) c.22C= (p.Arg8=) c.1082C= (n.1082C=) | |
| 19 | g.41869102C>G | CA406030242 | RPS19 | c.257C>G (p.Thr86Arg) c.244C>G (p.Arg82Gly) c.22C>G (p.Arg8Gly) c.1082C>G (n.1082C>G) | |
| 19 | g.41869102C>T | CA406030241 | RPS19 | c.257C>T (p.Thr86Met) c.244C>T (p.Arg82Cys) c.22C>T (p.Arg8Cys) c.1082C>T (n.1082C>T) | dbSNP gnomAD v2 |
| 19 | g.41869103G>A | CA9465355 | RPS19 | c.258G>A (p.Thr86=) c.245G>A (p.Arg82His) c.23G>A (p.Arg8His) c.1083G>A (n.1083G>A) | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.41869103G>C | CA406030247 | RPS19 | c.258G>C (p.Thr86=) c.245G>C (p.Arg82Pro) c.23G>C (p.Arg8Pro) c.1083G>C (n.1083G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41869103G= | CA2336668875 | RPS19 | c.258G= (p.Thr86=) c.245G= (p.Arg82=) c.23G= (p.Arg8=) c.1083G= (n.1083G=) | |
| 19 | g.41869103G>T | CA406030249 | RPS19 | c.258G>T (p.Thr86=) c.245G>T (p.Arg82Leu) c.23G>T (p.Arg8Leu) c.1083G>T (n.1083G>T) | ClinVar |
| 19 | g.41869104T>A | CA406030250 | RPS19 | c.259T>A (p.Ser87Thr) c.246T>A (p.Arg82=) c.24T>A (p.Arg8=) c.1084T>A (n.1084T>A) | |
| 19 | g.41869104T>C | CA406030252 | RPS19 | c.259T>C (p.Ser87Pro) c.246T>C (p.Arg82=) c.24T>C (p.Arg8=) c.1084T>C (n.1084T>C) | |
| 19 | g.41869104T>G | CA406030254 | RPS19 | c.259T>G (p.Ser87Ala) c.246T>G (p.Arg82=) c.24T>G (p.Arg8=) c.1084T>G (n.1084T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41869104T= | CA2336668876 | RPS19 | c.259T= (p.Ser87=) c.246T= (p.Arg82=) c.24T= (p.Arg8=) c.1084T= (n.1084T=) | |
| 19 | g.41869105C>A | CA406030256 | RPS19 | c.260C>A (p.Ser87Ter) c.247C>A (p.Gln83Lys) c.25C>A (p.Gln9Lys) c.1085C>A (n.1085C>A) | |
| 19 | g.41869105C>G | CA406030260 | RPS19 | c.260C>G (p.Ser87Ter) c.247C>G (p.Gln83Glu) c.25C>G (p.Gln9Glu) c.1085C>G (n.1085C>G) | |
| 19 | g.41869105C>T | CA406030258 | RPS19 | c.260C>T (p.Ser87Leu) c.247C>T (p.Gln83Ter) c.25C>T (p.Gln9Ter) c.1085C>T (n.1085C>T) | |
| 19 | g.41869106A>C | CA406030261 | RPS19 | c.261A>C (p.Ser87=) c.248A>C (p.Gln83Pro) c.26A>C (p.Gln9Pro) c.1086A>C (n.1086A>C) | |
| 19 | g.41869106A>G | CA406030263 | RPS19 | c.261A>G (p.Ser87=) c.248A>G (p.Gln83Arg) c.26A>G (p.Gln9Arg) c.1086A>G (n.1086A>G) | gnomAD v4 |
| 19 | g.41869106A>T | CA406030264 | RPS19 | c.261A>T (p.Ser87=) c.248A>T (p.Gln83Leu) c.26A>T (p.Gln9Leu) c.1086A>T (n.1086A>T) | |
| 19 | g.41869106dup | CA2695228819 | RPS19 | c.261dup (p.Glu88ArgfsTer?) c.248dup (p.Arg84GlufsTer?) c.26dup (p.Arg10GlufsTer?) c.1086dup (n.1086dup) c.261dup (p.Glu88ArgfsTer28) | |
| 19 | g.41869109_41869110del | CA2695228818 | RPS19 | c.264_265del (p.Lys89ThrfsTer?) c.251_252del (p.Arg84LysfsTer?) c.29_30del (p.Arg10LysfsTer?) c.1089_1090del (n.1089_1090del) c.264_265del (p.Lys89ThrfsTer26) | |
| 19 | g.41869107G>A | CA406030265 | RPS19 | c.262G>A (p.Glu88Lys) c.249G>A (p.Gln83=) c.27G>A (p.Gln9=) c.1087G>A (n.1087G>A) | dbSNP |
| 19 | g.41869107G>C | CA406030266 | RPS19 | c.262G>C (p.Glu88Gln) c.249G>C (p.Gln83His) c.27G>C (p.Gln9His) c.1087G>C (n.1087G>C) | |
| 19 | g.41869107G= | CA2336668877 | RPS19 | c.262G= (p.Glu88=) c.249G= (p.Gln83=) c.27G= (p.Gln9=) c.1087G= (n.1087G=) | |
| 19 | g.41869107G>T | CA406030268 | RPS19 | c.262G>T (p.Glu88Ter) c.249G>T (p.Gln83His) c.27G>T (p.Gln9His) c.1087G>T (n.1087G>T) | |
| 19 | g.41869108A= | CA2336668878 | RPS19 | c.263A= (p.Glu88=) c.250A= (p.Arg84=) c.28A= (p.Arg10=) c.1088A= (n.1088A=) | |
| 19 | g.41869108A>C | CA406030270 | RPS19 | c.263A>C (p.Glu88Ala) c.250A>C (p.Arg84=) c.28A>C (p.Arg10=) c.1088A>C (n.1088A>C) |