OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.5691449_5691473delinsAAAGGGTAGGTGGGCGCTGCCGGCC | CA2320057933 | RPL36 | c.224_228+20delinsAAAGGGTAGGTGGGCGCTGCCGGCC c.224_248delinsAAAGGGTAGGTGGGCGCTGCCGGCC (p.Lys75=) | |
| 19 | g.5691450_5691473del | CA2320057934 | RPL36 | c.225_228+20del c.225_248del (p.Arg76_Pro83del) | dbSNP |
| 19 | g.5691452_5691530delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA | CA2320057937 | RPL36 | c.227_229-2delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA c.227_*20delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA (n.[c.227_*20delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA;Arg76=]) | |
| 19 | g.5691456_5691533del | CA9113817 | RPL36 | c.228+3_230del c.231_*23del (n.[c.231_*23del;Gly79ThrfsTer28]) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691459_5691477dup | CA920046092 | RPL36 | c.228+6_228+24dup (n.228+6_228+24dup) c.234_252dup (p.Gly85TrpfsTer?) | dbSNP gnomAD v4 |
| 19 | g.5691460G>A | CA403523911 | RPL36 | c.228+7G>A (n.228+7G>A) c.235G>A (p.Gly79Arg) | dbSNP |
| 19 | g.5691460G>C | CA403523912 | RPL36 | c.228+7G>C (n.228+7G>C) c.235G>C (p.Gly79Arg) | |
| 19 | g.5691460G= | CA2320057944 | RPL36 | c.228+7G= (n.228+7G=) c.235G= (p.Gly79=) | |
| 19 | g.5691460G>T | CA403523913 | RPL36 | c.228+7G>T (n.228+7G>T) c.235G>T (p.Gly79Trp) | |
| 19 | g.5691461G>A | CA403523914 | RPL36 | c.228+8G>A (n.228+8G>A) c.236G>A (p.Gly79Glu) | |
| 19 | g.5691461G>C | CA403523915 | RPL36 | c.228+8G>C (n.228+8G>C) c.236G>C (p.Gly79Ala) | |
| 19 | g.5691461G>T | CA403523916 | RPL36 | c.228+8G>T (n.228+8G>T) c.236G>T (p.Gly79Val) | |
| 19 | g.5691461_5691462insAC | CA2587404967 | RPL36 | c.228+8_228+9insAC (n.228+8_228+9insAC) c.236_237insAC (p.Cys81AlafsTer?) | gnomAD v4 |
| 19 | g.5691462G>A | CA2587404968 | RPL36 | c.228+9G>A (n.228+9G>A) c.237G>A (p.Gly79=) | gnomAD v4 |
| 19 | g.5691462G>T | CA2587404969 | RPL36 | c.228+9G>T (n.228+9G>T) c.237G>T (p.Gly79=) | gnomAD v4 |
| 19 | g.5691463C>A | CA403523917 | RPL36 | c.228+10C>A (n.228+10C>A) c.238C>A (p.Arg80Ser) | |
| 19 | g.5691463C= | CA2320057945 | RPL36 | c.228+10C= (n.228+10C=) c.238C= (p.Arg80=) | |
| 19 | g.5691463C>G | CA403523918 | RPL36 | c.228+10C>G (n.228+10C>G) c.238C>G (p.Arg80Gly) | |
| 19 | g.5691463C>T | CA9113819 | RPL36 | c.228+10C>T (n.228+10C>T) c.238C>T (p.Arg80Cys) | dbSNP ExAC gnomAD v4 |
| 19 | g.5691464G>A | CA9113820 | RPL36 | c.228+11G>A (n.228+11G>A) c.239G>A (p.Arg80His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691464G>C | CA403523919 | RPL36 | c.228+11G>C (n.228+11G>C) c.239G>C (p.Arg80Pro) | |
| 19 | g.5691464G= | CA2320057946 | RPL36 | c.228+11G= (n.228+11G=) c.239G= (p.Arg80=) | |
| 19 | g.5691464G>T | CA403523920 | RPL36 | c.228+11G>T (n.228+11G>T) c.239G>T (p.Arg80Leu) | |
| 19 | g.5691465C>T | CA2587404970 | RPL36 | c.228+12C>T (n.228+12C>T) c.240C>T (p.Arg80=) | gnomAD v4 |
| 19 | g.5691465_5691466insACA | CA2587404971 | RPL36 | c.228+12_228+13insACA (n.228+12_228+13insACA) c.240_241insACA (p.Arg80_Cys81insThr) | gnomAD v4 |
| 19 | g.5691466T>A | CA403523923 | RPL36 | c.228+13T>A (n.228+13T>A) c.241T>A (p.Cys81Ser) | |
| 19 | g.5691466T>C | CA403523922 | RPL36 | c.228+13T>C (n.228+13T>C) c.241T>C (p.Cys81Arg) | gnomAD v4 |
| 19 | g.5691466T>G | CA403523921 | RPL36 | c.228+13T>G (n.228+13T>G) c.241T>G (p.Cys81Gly) | gnomAD v4 |
| 19 | g.5691467G>A | CA403523924 | RPL36 | c.228+14G>A (n.228+14G>A) c.242G>A (p.Cys81Tyr) | |
| 19 | g.5691467G>C | CA403523925 | RPL36 | c.228+14G>C (n.228+14G>C) c.242G>C (p.Cys81Ser) | |
| 19 | g.5691467G= | CA2320057947 | RPL36 | c.228+14G= (n.228+14G=) c.242G= (p.Cys81=) | |
| 19 | g.5691467G>T | CA9113821 | RPL36 | c.228+14G>T (n.228+14G>T) c.242G>T (p.Cys81Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691471_5691474dup | CA2587404972 | RPL36 | c.228+18_228+21dup (n.228+18_228+21dup) c.246_249dup (p.Arg84AlafsTer?) | gnomAD v4 |
| 19 | g.5691468C>A | CA403523926 | RPL36 | c.228+15C>A (n.228+15C>A) c.243C>A (p.Cys81Ter) | |
| 19 | g.5691468C= | CA2320057948 | RPL36 | c.228+15C= (n.228+15C=) c.243C= (p.Cys81=) | |
| 19 | g.5691468C>G | CA403523927 | RPL36 | c.228+15C>G (n.228+15C>G) c.243C>G (p.Cys81Trp) | gnomAD v4 |
| 19 | g.5691468C>T | CA2320057949 | RPL36 | c.228+15C>T (n.228+15C>T) c.243C>T (p.Cys81=) | dbSNP |
| 19 | g.5691469C>G | CA403523928 | RPL36 | c.228+16C>G (n.228+16C>G) c.244C>G (p.Arg82Gly) | gnomAD v4 |
| 19 | g.5691469C>T | CA403523929 | RPL36 | c.228+16C>T (n.228+16C>T) c.244C>T (p.Arg82Trp) | gnomAD v4 |
| 19 | g.5691470G>A | CA403523930 | RPL36 | c.228+17G>A (n.228+17G>A) c.245G>A (p.Arg82Gln) | |
| 19 | g.5691470G>C | CA403523931 | RPL36 | c.228+17G>C (n.228+17G>C) c.245G>C (p.Arg82Pro) | |
| 19 | g.5691470G= | CA2320057950 | RPL36 | c.228+17G= (n.228+17G=) c.245G= (p.Arg82=) | |
| 19 | g.5691470G>T | CA9113822 | RPL36 | c.228+17G>T (n.228+17G>T) c.245G>T (p.Arg82Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691472C>A | CA403523932 | RPL36 | c.228+19C>A (n.228+19C>A) c.247C>A (p.Pro83Thr) | |
| 19 | g.5691472C= | CA2320057951 | RPL36 | c.228+19C= (n.228+19C=) c.247C= (p.Pro83=) | |
| 19 | g.5691472C>G | CA403523933 | RPL36 | c.228+19C>G (n.228+19C>G) c.247C>G (p.Pro83Ala) | |
| 19 | g.5691472C>T | CA9113823 | RPL36 | c.228+19C>T (n.228+19C>T) c.247C>T (p.Pro83Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691473C>A | CA403523935 | RPL36 | c.228+20C>A (n.228+20C>A) c.248C>A (p.Pro83Gln) | |
| 19 | g.5691473C= | CA2320057952 | RPL36 | c.228+20C= (n.228+20C=) c.248C= (p.Pro83=) | |
| 19 | g.5691473C>G | CA403523934 | RPL36 | c.228+20C>G (n.228+20C>G) c.248C>G (p.Pro83Arg) | gnomAD v4 |
| 19 | g.5691473C>T | CA9113824 | RPL36 | c.228+20C>T (n.228+20C>T) c.248C>T (p.Pro83Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691474G>A | CA2735371346 | RPL36 | c.228+21G>A (n.228+21G>A) c.249G>A (p.Pro83=) | dbSNP |
| 19 | g.5691474G>C | CA631718727 | RPL36 | c.228+21G>C (n.228+21G>C) c.249G>C (p.Pro83=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691474G= | CA2320057953 | RPL36 | c.228+21G= (n.228+21G=) c.249G= (p.Pro83=) | |
| 19 | g.5691475A= | CA2320057954 | RPL36 | c.228+22A= (n.228+22A=) c.250A= (p.Arg84=) | |
| 19 | g.5691475A>C | CA2320057955 | RPL36 | c.228+22A>C (n.228+22A>C) c.250A>C (p.Arg84=) | dbSNP gnomAD v4 |
| 19 | g.5691475A>G | CA403523936 | RPL36 | c.228+22A>G (n.228+22A>G) c.250A>G (p.Arg84Gly) | gnomAD v4 |
| 19 | g.5691475A>T | CA403523937 | RPL36 | c.228+22A>T (n.228+22A>T) c.250A>T (p.Arg84Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691475_5691480delinsAGGGGC | CA2320057956 | RPL36 | c.228+22_228+27delinsAGGGGC (n.228+22_228+27delinsAGGGGC) c.250_255delinsAGGGGC (p.Arg84=) | |
| 19 | g.5691479_5691501dup | CA992978136 | RPL36 | c.228+26_229-31dup (n.228+26_229-31dup) c.254_276dup (p.Pro93AlafsTer32) | gnomAD v3 gnomAD v4 |
| 19 | g.5691476G>A | CA9113825 | RPL36 | c.228+23G>A (n.228+23G>A) c.251G>A (p.Arg84Lys) | dbSNP ExAC gnomAD v2 |
| 19 | g.5691476G>C | CA403523938 | RPL36 | c.228+23G>C (n.228+23G>C) c.251G>C (p.Arg84Thr) | |
| 19 | g.5691476G= | CA2320057958 | RPL36 | c.228+23G= (n.228+23G=) c.251G= (p.Arg84=) | |
| 19 | g.5691476G>T | CA403523939 | RPL36 | c.228+23G>T (n.228+23G>T) c.251G>T (p.Arg84Met) | dbSNP |
| 19 | g.5691480_5691484dup | CA2587404973 | RPL36 | c.228+27_228+31dup (n.228+27_228+31dup) c.255_259dup (p.Val87AlafsTer32) | gnomAD v4 |
| 19 | g.5691477_5691484dup | CA505179862 | RPL36 | c.228+24_228+31dup (n.228+24_228+31dup) c.252_259dup (p.Val87GlyfsTer33) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691480_5691484del | CA2320057957 | RPL36 | c.228+27_228+31del (n.228+27_228+31del) c.255_259del (p.Val87MetfsTer?) | dbSNP gnomAD v4 |
| 19 | g.5691477G>A | CA2587404974 | RPL36 | c.228+24G>A (n.228+24G>A) c.252G>A (p.Arg84=) | gnomAD v4 |
| 19 | g.5691477G>C | CA403523940 | RPL36 | c.228+24G>C (n.228+24G>C) c.252G>C (p.Arg84Ser) | |
| 19 | g.5691477G>T | CA403523941 | RPL36 | c.228+24G>T (n.228+24G>T) c.252G>T (p.Arg84Ser) | |
| 19 | g.5691478G>A | CA403523942 | RPL36 | c.228+25G>A (n.228+25G>A) c.253G>A (p.Gly85Ser) | |
| 19 | g.5691478G>C | CA403523943 | RPL36 | c.228+25G>C (n.228+25G>C) c.253G>C (p.Gly85Arg) | |
| 19 | g.5691478G>T | CA403523944 | RPL36 | c.228+25G>T (n.228+25G>T) c.253G>T (p.Gly85Cys) | |
| 19 | g.5691479G>A | CA403523945 | RPL36 | c.228+26G>A (n.228+26G>A) c.254G>A (p.Gly85Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691479G>C | CA403523947 | RPL36 | c.228+26G>C (n.228+26G>C) c.254G>C (p.Gly85Ala) | gnomAD v4 |
| 19 | g.5691479G= | CA2320057959 | RPL36 | c.228+26G= (n.228+26G=) c.254G= (p.Gly85=) | |
| 19 | g.5691479G>T | CA403523946 | RPL36 | c.228+26G>T (n.228+26G>T) c.254G>T (p.Gly85Val) | |
| 19 | g.5691480C= | CA2320057960 | RPL36 | c.228+27C= (n.228+27C=) c.255C= (p.Gly85=) | |
| 19 | g.5691480C>G | CA631718728 | RPL36 | c.228+27C>G (n.228+27C>G) c.255C>G (p.Gly85=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691480C>T | CA9113826 | RPL36 | c.228+27C>T (n.228+27C>T) c.255C>T (p.Gly85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691481G>A | CA403523948 | RPL36 | c.228+28G>A (n.228+28G>A) c.256G>A (p.Gly86Arg) | dbSNP gnomAD v4 |
| 19 | g.5691481G>C | CA403523949 | RPL36 | c.228+28G>C (n.228+28G>C) c.256G>C (p.Gly86Arg) | |
| 19 | g.5691481G= | CA2320057961 | RPL36 | c.228+28G= (n.228+28G=) c.256G= (p.Gly86=) | |
| 19 | g.5691481G>T | CA403523950 | RPL36 | c.228+28G>T (n.228+28G>T) c.256G>T (p.Gly86Trp) | |
| 19 | g.5691484_5691485insGGGGGGG | CA1139770190 | RPL36 | c.228+31_228+32insGGGGGGG (n.228+31_228+32insGGGGGGG) c.259_260insGGGGGGG (p.Val87GlyfsTer?) | gnomAD v4 |
| 19 | g.5691482G>A | CA403523951 | RPL36 | c.228+29G>A (n.228+29G>A) c.257G>A (p.Gly86Glu) | dbSNP |
| 19 | g.5691482G>C | CA403523953 | RPL36 | c.228+29G>C (n.228+29G>C) c.257G>C (p.Gly86Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691482G= | CA2320057962 | RPL36 | c.228+29G= (n.228+29G=) c.257G= (p.Gly86=) | |
| 19 | g.5691482G>T | CA403523952 | RPL36 | c.228+29G>T (n.228+29G>T) c.257G>T (p.Gly86Val) | |
| 19 | g.5691483G>C | CA2582282332 | RPL36 | c.228+30G>C (n.228+30G>C) c.258G>C (p.Gly86=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691484G>A | CA403523954 | RPL36 | c.228+31G>A (n.228+31G>A) c.259G>A (p.Val87Met) | gnomAD v4 |
| 19 | g.5691484G>C | CA403523955 | RPL36 | c.228+31G>C (n.228+31G>C) c.259G>C (p.Val87Leu) | gnomAD v4 |
| 19 | g.5691484G= | CA2320057963 | RPL36 | c.228+31G= (n.228+31G=) c.259G= (p.Val87=) | |
| 19 | g.5691484G>T | CA9113827 | RPL36 | c.228+31G>T (n.228+31G>T) c.259G>T (p.Val87Leu) | dbSNP ExAC gnomAD v2 |
| 19 | g.5691484_5691489delinsGTGGGA | CA2320057964 | RPL36 | c.228+31_228+36delinsGTGGGA (n.228+31_228+36delinsGTGGGA) c.259_264delinsGTGGGA (p.Val87=) | |
| 19 | g.5691485T>A | CA403523956 | RPL36 | c.228+32T>A (n.228+32T>A) c.260T>A (p.Val87Glu) | |
| 19 | g.5691485T>C | CA403523957 | RPL36 | c.228+32T>C (n.228+32T>C) c.260T>C (p.Val87Ala) | |
| 19 | g.5691485T>G | CA9113828 | RPL36 | c.228+32T>G (n.228+32T>G) c.260T>G (p.Val87Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691485T= | CA2320057965 | RPL36 | c.228+32T= (n.228+32T=) c.260T= (p.Val87=) | |
| 19 | g.5691490_5691494dup | CA631718730 | RPL36 | c.228+37_229-38dup (n.228+37_229-38dup) c.265_269dup (p.Glu90AspfsTer29) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691490_5691494del | CA631718729 | RPL36 | c.228+37_229-38del (n.228+37_229-38del) c.265_269del (p.Trp89ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691487_5691509dup | CA992978142 | RPL36 | c.228+34_229-23dup (n.228+34_229-23dup) c.262_284dup (p.Ter95TrpextTer30) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691486G>A | CA2587404975 | RPL36 | c.228+33G>A (n.228+33G>A) c.261G>A (p.Val87=) | gnomAD v4 |
| 19 | g.5691488del | CA2813410198 | RPL36 | c.228+35del (n.228+35del) c.263del (p.Gly88AspfsTer29) | |
| 19 | g.5691489_5691506dup | CA2320057966 | RPL36 | c.228+36_229-26dup (n.228+36_229-26dup) c.264_281dup (p.Gly94_Ter95insTrpGluSerGlyProGly) | dbSNP |
| 19 | g.5691486_5691507dup | CA992978146 | RPL36 | c.228+33_229-25dup (n.228+33_229-25dup) c.261_282dup (p.Ter95GlyextTer?) | gnomAD v3 gnomAD v4 |
| 19 | g.5691487G>A | CA403523958 | RPL36 | c.228+34G>A (n.228+34G>A) c.262G>A (p.Gly88Arg) | |
| 19 | g.5691487G>C | CA403523959 | RPL36 | c.228+34G>C (n.228+34G>C) c.262G>C (p.Gly88Arg) | gnomAD v4 |
| 19 | g.5691487G= | CA2320057967 | RPL36 | c.228+34G= (n.228+34G=) c.262G= (p.Gly88=) | |
| 19 | g.5691487G>T | CA9113829 | RPL36 | c.228+34G>T (n.228+34G>T) c.262G>T (p.Gly88Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691488G>A | CA403523960 | RPL36 | c.228+35G>A (n.228+35G>A) c.263G>A (p.Gly88Glu) | |
| 19 | g.5691488G>C | CA403523961 | RPL36 | c.228+35G>C (n.228+35G>C) c.263G>C (p.Gly88Ala) | |
| 19 | g.5691488G>T | CA403523962 | RPL36 | c.228+35G>T (n.228+35G>T) c.263G>T (p.Gly88Val) | gnomAD v4 |
| 19 | g.5691489A= | CA2320057968 | RPL36 | c.228+36A= (n.228+36A=) c.264A= (p.Gly88=) | |
| 19 | g.5691489A>G | CA631718731 | RPL36 | c.228+36A>G (n.228+36A>G) c.264A>G (p.Gly88=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691489A>T | CA992978149 | RPL36 | c.228+36A>T (n.228+36A>T) c.264A>T (p.Gly88=) | gnomAD v3 gnomAD v4 |
| 19 | g.5691489_5691490insCTATTCGGTGACGGTCTTCAGACCACCGAACTTCCCGACGAAGAGCTTTGCAGACTCTCCTGCGG | CA2813410199 | RPL36 | c.228+36_228+37insCTATTCGGTGACGGTCTTCAGACCACCGAACTTCCCGACGAAGAGCTTTGCAGACTCTCCTGCGG (n.228+36_228+37insCTATTCGGTGACGGTCTTCAGACCACCGAACTTCCCGACGAAGAGCTTTGCAGACTCTCCTGCGG) c.264_265insCTATTCGGTGACGGTCTTCAGACCACCGAACTTCCCGACGAAGAGCTTTGCAGACTCTCCTGCGG (p.Trp89LeufsTer50) | |
| 19 | g.5691490T>A | CA403523965 | RPL36 | c.228+37T>A (n.228+37T>A) c.265T>A (p.Trp89Arg) | |
| 19 | g.5691490T>C | CA403523963 | RPL36 | c.228+37T>C (n.228+37T>C) c.265T>C (p.Trp89Arg) | |
| 19 | g.5691490T>G | CA403523964 | RPL36 | c.228+37T>G (n.228+37T>G) c.265T>G (p.Trp89Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691490T= | CA2320057969 | RPL36 | c.228+37T= (n.228+37T=) c.265T= (p.Trp89=) | |
| 19 | g.5691490dup | CA631718732 | RPL36 | c.228+37dup (n.228+37dup) c.265dup (p.Trp89LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691490_5691491delinsTG | CA2320057970 | RPL36 | c.228+37_228+38delinsTG (n.228+37_228+38delinsTG) c.265_266delinsTG (p.Trp89=) | |
| 19 | g.5691490_5691491insTG | CA2587404976 | RPL36 | c.228+37_228+38insTG (n.228+37_228+38insTG) c.265_266insTG (p.Trp89LeufsTer29) | gnomAD v4 |
| 19 | g.5691491G>A | CA403523966 | RPL36 | c.228+38G>A (n.228+38G>A) c.266G>A (p.Trp89Ter) | |
| 19 | g.5691491G>C | CA403523967 | RPL36 | c.228+38G>C (n.228+38G>C) c.266G>C (p.Trp89Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691491G= | CA2320057971 | RPL36 | c.228+38G= (n.228+38G=) c.266G= (p.Trp89=) | |
| 19 | g.5691491G>T | CA403523968 | RPL36 | c.228+38G>T (n.228+38G>T) c.266G>T (p.Trp89Leu) | |
| 19 | g.5691493del | CA2320057972 | RPL36 | c.229-39del (n.229-39del) c.268del (p.Glu90SerfsTer27) | dbSNP |
| 19 | g.5691492G>A | CA403523969 | RPL36 | c.229-40G>A (n.229-40G>A) c.267G>A (p.Trp89Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691492G>C | CA403523970 | RPL36 | c.229-40G>C (n.229-40G>C) c.267G>C (p.Trp89Cys) | |
| 19 | g.5691492G= | CA2320057973 | RPL36 | c.229-40G= (n.229-40G=) c.267G= (p.Trp89=) | |
| 19 | g.5691492G>T | CA403523971 | RPL36 | c.229-40G>T (n.229-40G>T) c.267G>T (p.Trp89Cys) | |
| 19 | g.5691493G>A | CA403523974 | RPL36 | c.229-39G>A (n.229-39G>A) c.268G>A (p.Glu90Lys) | |
| 19 | g.5691493G>C | CA403523973 | RPL36 | c.229-39G>C (n.229-39G>C) c.268G>C (p.Glu90Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691493G= | CA2320057974 | RPL36 | c.229-39G= (n.229-39G=) c.268G= (p.Glu90=) | |
| 19 | g.5691493G>T | CA403523972 | RPL36 | c.229-39G>T (n.229-39G>T) c.268G>T (p.Glu90Ter) | COSMIC |
| 19 | g.5691494A= | CA2320057975 | RPL36 | c.229-38A= (n.229-38A=) c.269A= (p.Glu90=) | |
| 19 | g.5691494A>C | CA403523975 | RPL36 | c.229-38A>C (n.229-38A>C) c.269A>C (p.Glu90Ala) | |
| 19 | g.5691494A>G | CA403523976 | RPL36 | c.229-38A>G (n.229-38A>G) c.269A>G (p.Glu90Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691494A>T | CA403523977 | RPL36 | c.229-38A>T (n.229-38A>T) c.269A>T (p.Glu90Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691495del | CA2587404978 | RPL36 | c.229-37del (n.229-37del) c.270del (p.Glu90AspfsTer27) | gnomAD v4 |
| 19 | g.5691495G>A | CA9113830 | RPL36 | c.229-37G>A (n.229-37G>A) c.270G>A (p.Glu90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691495G>C | CA403523978 | RPL36 | c.229-37G>C (n.229-37G>C) c.270G>C (p.Glu90Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691495G= | CA2320057976 | RPL36 | c.229-37G= (n.229-37G=) c.270G= (p.Glu90=) | |
| 19 | g.5691495G>T | CA403523979 | RPL36 | c.229-37G>T (n.229-37G>T) c.270G>T (p.Glu90Asp) | gnomAD v4 |
| 19 | g.5691498_5691523dup | CA2587404977 | RPL36 | c.229-34_229-9dup (n.229-34_229-9dup) c.273_*13dup (n.273_*13dup) | gnomAD v4 |
| 19 | g.5691496T>A | CA403523980 | RPL36 | c.229-36T>A (n.229-36T>A) c.271T>A (p.Ser91Thr) | |
| 19 | g.5691496T>C | CA9113831 | RPL36 | c.229-36T>C (n.229-36T>C) c.271T>C (p.Ser91Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691496T>G | CA403523981 | RPL36 | c.229-36T>G (n.229-36T>G) c.271T>G (p.Ser91Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691496T= | CA2320057977 | RPL36 | c.229-36T= (n.229-36T=) c.271T= (p.Ser91=) | |
| 19 | g.5691497C>A | CA403523982 | RPL36 | c.229-35C>A (n.229-35C>A) c.272C>A (p.Ser91Ter) | |
| 19 | g.5691497C= | CA2320057978 | RPL36 | c.229-35C= (n.229-35C=) c.272C= (p.Ser91=) | |
| 19 | g.5691497C>G | CA403523983 | RPL36 | c.229-35C>G (n.229-35C>G) c.272C>G (p.Ser91Ter) | dbSNP |
| 19 | g.5691497C>T | CA403523984 | RPL36 | c.229-35C>T (n.229-35C>T) c.272C>T (p.Ser91Leu) | dbSNP |
| 19 | g.5691498A= | CA2320057979 | RPL36 | c.229-34A= (n.229-34A=) c.273A= (p.Ser91=) | |
| 19 | g.5691498A>G | CA992978157 | RPL36 | c.229-34A>G (n.229-34A>G) c.273A>G (p.Ser91=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691499G>A | CA403523985 | RPL36 | c.229-33G>A (n.229-33G>A) c.274G>A (p.Gly92Arg) | gnomAD v4 |
| 19 | g.5691499G>C | CA403523986 | RPL36 | c.229-33G>C (n.229-33G>C) c.274G>C (p.Gly92Arg) | |
| 19 | g.5691499G= | CA2320057980 | RPL36 | c.229-33G= (n.229-33G=) c.274G= (p.Gly92=) | |
| 19 | g.5691499G>T | CA403523987 | RPL36 | c.229-33G>T (n.229-33G>T) c.274G>T (p.Gly92Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691500G>A | CA9113833 | RPL36 | c.229-32G>A (n.229-32G>A) c.275G>A (p.Gly92Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691500G>C | CA403523988 | RPL36 | c.229-32G>C (n.229-32G>C) c.275G>C (p.Gly92Ala) | |
| 19 | g.5691500G= | CA2320057981 | RPL36 | c.229-32G= (n.229-32G=) c.275G= (p.Gly92=) | |
| 19 | g.5691500G>T | CA9113832 | RPL36 | c.229-32G>T (n.229-32G>T) c.275G>T (p.Gly92Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691501G>A | CA9113834 | RPL36 | c.229-31G>A (n.229-31G>A) c.276G>A (p.Gly92=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691501G>C | CA9113835 | RPL36 | c.229-31G>C (n.229-31G>C) c.276G>C (p.Gly92=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691501G= | CA2320057982 | RPL36 | c.229-31G= (n.229-31G=) c.276G= (p.Gly92=) | |
| 19 | g.5691502C>A | CA403523991 | RPL36 | c.229-30C>A (n.229-30C>A) c.277C>A (p.Pro93Thr) | |
| 19 | g.5691502C>G | CA403523989 | RPL36 | c.229-30C>G (n.229-30C>G) c.277C>G (p.Pro93Ala) | |
| 19 | g.5691502C>T | CA403523990 | RPL36 | c.229-30C>T (n.229-30C>T) c.277C>T (p.Pro93Ser) | |
| 19 | g.5691503C>A | CA403523992 | RPL36 | c.229-29C>A (n.229-29C>A) c.278C>A (p.Pro93Gln) | |
| 19 | g.5691503C= | CA2320057983 | RPL36 | c.229-29C= (n.229-29C=) c.278C= (p.Pro93=) | |
| 19 | g.5691503C>G | CA403523994 | RPL36 | c.229-29C>G (n.229-29C>G) c.278C>G (p.Pro93Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691503C>T | CA403523993 | RPL36 | c.229-29C>T (n.229-29C>T) c.278C>T (p.Pro93Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691503_5691504delinsCG | CA2320057984 | RPL36 | c.229-29_229-28delinsCG (n.229-29_229-28delinsCG) c.278_279delinsCG (p.Pro93=) | |
| 19 | g.5691504G>A | CA9113836 | RPL36 | c.229-28G>A (n.229-28G>A) c.279G>A (p.Pro93=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691504G>C | CA9113837 | RPL36 | c.229-28G>C (n.229-28G>C) c.279G>C (p.Pro93=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691504G= | CA2320057985 | RPL36 | c.229-28G= (n.229-28G=) c.279G= (p.Pro93=) | |
| 19 | g.5691506del | CA883867088 | RPL36 | c.229-26del (n.229-26del) c.281del (p.Gly94AlafsTer23) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691505G>A | CA403523995 | RPL36 | c.229-27G>A (n.229-27G>A) c.280G>A (p.Gly94Ser) | |
| 19 | g.5691505G>C | CA403523996 | RPL36 | c.229-27G>C (n.229-27G>C) c.280G>C (p.Gly94Arg) | |
| 19 | g.5691505G= | CA2320057986 | RPL36 | c.229-27G= (n.229-27G=) c.280G= (p.Gly94=) | |
| 19 | g.5691505G>T | CA403523997 | RPL36 | c.229-27G>T (n.229-27G>T) c.280G>T (p.Gly94Cys) | dbSNP |
| 19 | g.5691506G>A | CA403523998 | RPL36 | c.229-26G>A (n.229-26G>A) c.281G>A (p.Gly94Asp) | |
| 19 | g.5691506G>C | CA403523999 | RPL36 | c.229-26G>C (n.229-26G>C) c.281G>C (p.Gly94Ala) | |
| 19 | g.5691506G>T | CA403524000 | RPL36 | c.229-26G>T (n.229-26G>T) c.281G>T (p.Gly94Val) | |
| 19 | g.5691507C>A | CA883867100 | RPL36 | c.229-25C>A (n.229-25C>A) c.282C>A (p.Gly94=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691507C= | CA2320057987 | RPL36 | c.229-25C= (n.229-25C=) c.282C= (p.Gly94=) | |
| 19 | g.5691507C>T | CA9113838 | RPL36 | c.229-25C>T (n.229-25C>T) c.282C>T (p.Gly94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691508T>A | CA403524001 | RPL36 | c.229-24T>A (n.229-24T>A) c.283T>A (p.Ter95Arg) | gnomAD v4 |
| 19 | g.5691508T>C | CA403524002 | RPL36 | c.229-24T>C (n.229-24T>C) c.283T>C (p.Ter95Arg) | |
| 19 | g.5691508T>G | CA403524003 | RPL36 | c.229-24T>G (n.229-24T>G) c.283T>G (p.Ter95Gly) | |
| 19 | g.5691509G>A | CA631718733 | RPL36 | c.229-23G>A (n.229-23G>A) c.284G>A (p.Ter95=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691509G>C | CA403524005 | RPL36 | c.229-23G>C (n.229-23G>C) c.284G>C (p.Ter95Ser) | |
| 19 | g.5691509G= | CA2320057988 | RPL36 | c.229-23G= (n.229-23G=) c.284G= (p.Ter95=) | |
| 19 | g.5691509G>T | CA403524004 | RPL36 | c.229-23G>T (n.229-23G>T) c.284G>T (p.Ter95Leu) | |
| 19 | g.5691510A>C | CA403524006 | RPL36 | c.229-22A>C (n.229-22A>C) c.285A>C (p.Ter95Cys) | |
| 19 | g.5691510A>G | CA403524007 | RPL36 | c.229-22A>G (n.229-22A>G) c.285A>G (p.Ter95Trp) | |
| 19 | g.5691510A>T | CA403524008 | RPL36 | c.229-22A>T (n.229-22A>T) c.285A>T (p.Ter95Cys) | |
| 19 | g.5691510_5691513delinsACGG | CA2320057989 | RPL36 | c.229-22_229-19delinsACGG (n.229-22_229-19delinsACGG) c.285_*3delinsACGG (n.[c.285_*3delinsACGG;Ter95=]) | |
| 19 | g.5691511C>A | CA9113839 | RPL36 | c.229-21C>A (n.229-21C>A) c.*1C>A (n.*1C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691511C= | CA2320057990 | RPL36 | c.229-21C= (n.229-21C=) c.*1C= (n.*1C=) | |
| 19 | g.5691511C>T | CA631718735 | RPL36 | c.229-21C>T (n.229-21C>T) c.*1C>T (n.*1C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691515_5691517del | CA631718734 | RPL36 | c.229-17_229-15del (n.229-17_229-15del) c.*5_*7del (n.*5_*7del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691512G>A | CA2320057991 | RPL36 | c.229-20G>A (n.229-20G>A) c.*2G>A (n.*2G>A) | dbSNP gnomAD v4 |
| 19 | g.5691512G>C | CA9113840 | RPL36 | c.229-20G>C (n.229-20G>C) c.*2G>C (n.*2G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691512G= | CA2320057992 | RPL36 | c.229-20G= (n.229-20G=) c.*2G= (n.*2G=) | |
| 19 | g.5691513G>A | CA304607176 | RPL36 | c.229-19G>A (n.229-19G>A) c.*3G>A (n.*3G>A) | dbSNP gnomAD v4 |
| 19 | g.5691513G= | CA2320057993 | RPL36 | c.229-19G= (n.229-19G=) c.*3G= (n.*3G=) | |
| 19 | g.5691514C>A | CA631718736 | RPL36 | c.229-18C>A (n.229-18C>A) c.*4C>A (n.*4C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691514C= | CA2320057994 | RPL36 | c.229-18C= (n.229-18C=) c.*4C= (n.*4C=) | |
| 19 | g.5691514C>G | CA2576584455 | RPL36 | c.229-18C>G (n.229-18C>G) c.*4C>G (n.*4C>G) | gnomAD v4 |
| 19 | g.5691514C>T | CA9113841 | RPL36 | c.229-18C>T (n.229-18C>T) c.*4C>T (n.*4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691515G>A | CA2320057996 | RPL36 | c.229-17G>A (n.229-17G>A) c.*5G>A (n.*5G>A) | dbSNP gnomAD v4 |
| 19 | g.5691515G>C | CA9113842 | RPL36 | c.229-17G>C (n.229-17G>C) c.*5G>C (n.*5G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691515G= | CA2320057995 | RPL36 | c.229-17G= (n.229-17G=) c.*5G= (n.*5G=) | |
| 19 | g.5691516G>A | CA2587404979 | RPL36 | c.229-16G>A (n.229-16G>A) c.*6G>A (n.*6G>A) | gnomAD v4 |
| 19 | g.5691516G>C | CA2587404980 | RPL36 | c.229-16G>C (n.229-16G>C) c.*6G>C (n.*6G>C) | gnomAD v4 |
| 19 | g.5691516G>T | CA2576584456 | RPL36 | c.229-16G>T (n.229-16G>T) c.*6G>T (n.*6G>T) | |
| 19 | g.5691517C>A | CA2587404981 | RPL36 | c.229-15C>A (n.229-15C>A) c.*7C>A (n.*7C>A) | gnomAD v4 |
| 19 | g.5691517C= | CA2320057997 | RPL36 | c.229-15C= (n.229-15C=) c.*7C= (n.*7C=) | |
| 19 | g.5691517C>T | CA9113843 | RPL36 | c.229-15C>T (n.229-15C>T) c.*7C>T (n.*7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691518C= | CA2320057998 | RPL36 | c.229-14C= (n.229-14C=) c.*8C= (n.*8C=) | |
| 19 | g.5691518C>T | CA9113844 | RPL36 | c.229-14C>T (n.229-14C>T) c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691520C>A | CA992978176 | RPL36 | c.229-12C>A (n.229-12C>A) c.*10C>A (n.*10C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691520C= | CA2320057999 | RPL36 | c.229-12C= (n.229-12C=) c.*10C= (n.*10C=) | |
| 19 | g.5691520C>G | CA304607177 | RPL36 | c.229-12C>G (n.229-12C>G) c.*10C>G (n.*10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691520C>T | CA9113845 | RPL36 | c.229-12C>T (n.229-12C>T) c.*10C>T (n.*10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691521G>A | CA631718738 | RPL36 | c.229-11G>A (n.229-11G>A) c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691521G>C | CA631718737 | RPL36 | c.229-11G>C (n.229-11G>C) c.*11G>C (n.*11G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691521G= | CA2320058000 | RPL36 | c.229-11G= (n.229-11G=) c.*11G= (n.*11G=) | |
| 19 | g.5691521G>T | CA2587404982 | RPL36 | c.229-11G>T (n.229-11G>T) c.*11G>T (n.*11G>T) | gnomAD v4 |
| 19 | g.5691523C>A | CA304607178 | RPL36 | c.229-9C>A (n.229-9C>A) c.*13C>A (n.*13C>A) | dbSNP |
| 19 | g.5691523C= | CA2320058001 | RPL36 | c.229-9C= (n.229-9C=) c.*13C= (n.*13C=) | |
| 19 | g.5691523C>T | CA9113846 | RPL36 | c.229-9C>T (n.229-9C>T) c.*13C>T (n.*13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691524C>A | CA9113847 | RPL36 | c.229-8C>A (n.229-8C>A) c.*14C>A (n.*14C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691524C= | CA2320058002 | RPL36 | c.229-8C= (n.229-8C=) c.*14C= (n.*14C=) | |
| 19 | g.5691524C>G | CA2587404983 | RPL36 | c.229-8C>G (n.229-8C>G) c.*14C>G (n.*14C>G) | gnomAD v4 |
| 19 | g.5691524C>T | CA9113848 | RPL36 | c.229-8C>T (n.229-8C>T) c.*14C>T (n.*14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691525C>A | CA2576584457 | RPL36 | c.229-7C>A (n.229-7C>A) c.*15C>A (n.*15C>A) | gnomAD v4 |
| 19 | g.5691525C= | CA2320058003 | RPL36 | c.229-7C= (n.229-7C=) c.*15C= (n.*15C=) | |
| 19 | g.5691525C>G | CA2581365272 | RPL36 | c.229-7C>G (n.229-7C>G) c.*15C>G (n.*15C>G) | gnomAD v4 |
| 19 | g.5691525C>T | CA9113849 | RPL36 | c.229-7C>T (n.229-7C>T) c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691527G>A | CA883867155 | RPL36 | c.229-5G>A (n.229-5G>A) c.*17G>A (n.*17G>A) | dbSNP gnomAD v4 |
| 19 | g.5691527G= | CA2320058005 | RPL36 | c.229-5G= (n.229-5G=) c.*17G= (n.*17G=) | |
| 19 | g.5691527G>T | CA2320058004 | RPL36 | c.229-5G>T (n.229-5G>T) c.*17G>T (n.*17G>T) | dbSNP |
| 19 | g.5691528G>C | CA2587404984 | RPL36 | c.229-4G>C (n.229-4G>C) c.*18G>C (n.*18G>C) | gnomAD v4 |
| 19 | g.5691528G>T | CA2587404985 | RPL36 | c.229-4G>T (n.229-4G>T) c.*18G>T (n.*18G>T) | gnomAD v4 |
| 19 | g.5691529C>T | CA2587404986 | RPL36 | c.229-3C>T (n.229-3C>T) c.*19C>T (n.*19C>T) | gnomAD v4 |
| 19 | g.5691530A= | CA2320058006 | RPL36 | c.229-2A= (n.229-2A=) c.*20A= (n.*20A=) | |
| 19 | g.5691530A>C | CA403524009 | RPL36 | c.229-2A>C (n.229-2A>C) c.*20A>C (n.*20A>C) | |
| 19 | g.5691530A>G | CA403524010 | RPL36 | c.229-2A>G (n.229-2A>G) c.*20A>G (n.*20A>G) | dbSNP |
| 19 | g.5691530A>T | CA403524011 | RPL36 | c.229-2A>T (n.229-2A>T) c.*20A>T (n.*20A>T) | |
| 19 | g.5691531G>A | CA403524012 | RPL36 | c.229-1G>A (n.229-1G>A) c.*21G>A (n.*21G>A) | |
| 19 | g.5691531G>C | CA403524013 | RPL36 | c.229-1G>C (n.229-1G>C) c.*21G>C (n.*21G>C) | |
| 19 | g.5691531G>T | CA403524014 | RPL36 | c.229-1G>T (n.229-1G>T) c.*21G>T (n.*21G>T) | |
| 19 | g.5691532G>A | CA403524015 | RPL36 | c.229G>A (p.Val77Met) c.*22G>A (n.*22G>A) | gnomAD v4 |
| 19 | g.5691532G>C | CA403524017 | RPL36 | c.229G>C (p.Val77Leu) c.*22G>C (n.*22G>C) | gnomAD v4 |
| 19 | g.5691532G>T | CA403524016 | RPL36 | c.229G>T (p.Val77Leu) c.*22G>T (n.*22G>T) | gnomAD v4 |
| 19 | g.5691533T>A | CA403524018 | RPL36 | c.230T>A (p.Val77Glu) c.*23T>A (n.*23T>A) | |
| 19 | g.5691533T>C | CA403524019 | RPL36 | c.230T>C (p.Val77Ala) c.*23T>C (n.*23T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691533T>G | CA403524020 | RPL36 | c.230T>G (p.Val77Gly) c.*23T>G (n.*23T>G) | gnomAD v4 |
| 19 | g.5691533T= | CA2320058007 | RPL36 | c.230T= (p.Val77=) c.*23T= (n.*23T=) | |
| 19 | g.5691534G>A | CA9113850 | RPL36 | c.231G>A (p.Val77=) c.*24G>A (n.*24G>A) | dbSNP ExAC gnomAD v2 |
| 19 | g.5691534G>C | CA505179883 | RPL36 | c.231G>C (p.Val77=) c.*24G>C (n.*24G>C) | |
| 19 | g.5691534G= | CA2320058008 | RPL36 | c.231G= (p.Val77=) c.*24G= (n.*24G=) | |
| 19 | g.5691534G>T | CA505179882 | RPL36 | c.231G>T (p.Val77=) c.*24G>T (n.*24G>T) | dbSNP gnomAD v4 |
| 19 | g.5691535G>A | CA9113851 | RPL36 | c.232G>A (p.Gly78Arg) c.*25G>A (n.*25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691535G>C | CA403524021 | RPL36 | c.232G>C (p.Gly78Arg) c.*25G>C (n.*25G>C) | |
| 19 | g.5691535G= | CA2320058009 | RPL36 | c.232G= (p.Gly78=) c.*25G= (n.*25G=) | |
| 19 | g.5691535G>T | CA403524022 | RPL36 | c.232G>T (p.Gly78Trp) c.*25G>T (n.*25G>T) | |
| 19 | g.5691536G>A | CA403524023 | RPL36 | c.233G>A (p.Gly78Glu) c.*26G>A (n.*26G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691536G>C | CA403524024 | RPL36 | c.233G>C (p.Gly78Ala) c.*26G>C (n.*26G>C) | |
| 19 | g.5691536G= | CA2320058010 | RPL36 | c.233G= (p.Gly78=) c.*26G= (n.*26G=) | |
| 19 | g.5691536G>T | CA403524025 | RPL36 | c.233G>T (p.Gly78Val) c.*26G>T (n.*26G>T) | |
| 19 | g.5691537G>A | CA505179887 | RPL36 | c.234G>A (p.Gly78=) c.*27G>A (n.*27G>A) | gnomAD v4 |
| 19 | g.5691537G>C | CA505179888 | RPL36 | c.234G>C (p.Gly78=) c.*27G>C (n.*27G>C) | |
| 19 | g.5691537G>T | CA505179889 | RPL36 | c.234G>T (p.Gly78=) c.*27G>T (n.*27G>T) | |
| 19 | g.5691538A= | CA2320058011 | RPL36 | c.235A= (p.Thr79=) c.*28A= (n.*28A=) | |
| 19 | g.5691538A>C | CA403524026 | RPL36 | c.235A>C (p.Thr79Pro) c.*28A>C (n.*28A>C) | dbSNP gnomAD v2 |
| 19 | g.5691538A>G | CA403524027 | RPL36 | c.235A>G (p.Thr79Ala) c.*28A>G (n.*28A>G) | dbSNP |
| 19 | g.5691538A>T | CA403524028 | RPL36 | c.235A>T (p.Thr79Ser) c.*28A>T (n.*28A>T) | |
| 19 | g.5691539C>A | CA403524029 | RPL36 | c.236C>A (p.Thr79Lys) c.*29C>A (n.*29C>A) | |
| 19 | g.5691539C>G | CA403524030 | RPL36 | c.236C>G (p.Thr79Arg) c.*29C>G (n.*29C>G) | |
| 19 | g.5691539C>T | CA403524031 | RPL36 | c.236C>T (p.Thr79Met) c.*29C>T (n.*29C>T) | |
| 19 | g.5691540G>A | CA304607179 | RPL36 | c.237G>A (p.Thr79=) c.*30G>A (n.*30G>A) | dbSNP gnomAD v4 |
| 19 | g.5691540G>C | CA505179890 | RPL36 | c.237G>C (p.Thr79=) c.*30G>C (n.*30G>C) | |
| 19 | g.5691540G= | CA2320058012 | RPL36 | c.237G= (p.Thr79=) c.*30G= (n.*30G=) | |
| 19 | g.5691540G>T | CA505179891 | RPL36 | c.237G>T (p.Thr79=) c.*30G>T (n.*30G>T) | |
| 19 | g.5691541C>A | CA403524032 | RPL36 | c.238C>A (p.His80Asn) c.*31C>A (n.*31C>A) | |
| 19 | g.5691541C>G | CA403524033 | RPL36 | c.238C>G (p.His80Asp) c.*31C>G (n.*31C>G) | |
| 19 | g.5691541C>T | CA403524034 | RPL36 | c.238C>T (p.His80Tyr) c.*31C>T (n.*31C>T) | gnomAD v4 |
| 19 | g.5691542A= | CA2320058013 | RPL36 | c.239A= (p.His80=) c.*32A= (n.*32A=) | |
| 19 | g.5691542A>C | CA403524035 | RPL36 | c.239A>C (p.His80Pro) c.*32A>C (n.*32A>C) | gnomAD v4 |
| 19 | g.5691542A>G | CA403524037 | RPL36 | c.239A>G (p.His80Arg) c.*32A>G (n.*32A>G) | dbSNP gnomAD v4 |
| 19 | g.5691542A>T | CA403524036 | RPL36 | c.239A>T (p.His80Leu) c.*32A>T (n.*32A>T) | |
| 19 | g.5691543C>A | CA403524038 | RPL36 | c.240C>A (p.His80Gln) c.*33C>A (n.*33C>A) | |
| 19 | g.5691543C= | CA2320058014 | RPL36 | c.240C= (p.His80=) c.*33C= (n.*33C=) | |
| 19 | g.5691543C>G | CA403524039 | RPL36 | c.240C>G (p.His80Gln) c.*33C>G (n.*33C>G) | |
| 19 | g.5691543C>T | CA304607180 | RPL36 | c.240C>T (p.His80=) c.*33C>T (n.*33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691544A= | CA2320058015 | RPL36 | c.241A= (p.Ile81=) c.*34A= (n.*34A=) | |
| 19 | g.5691544A>C | CA403524040 | RPL36 | c.241A>C (p.Ile81Leu) c.*34A>C (n.*34A>C) | |
| 19 | g.5691544A>G | CA9113852 | RPL36 | c.241A>G (p.Ile81Val) c.*34A>G (n.*34A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691544A>T | CA403524041 | RPL36 | c.241A>T (p.Ile81Phe) c.*34A>T (n.*34A>T) | |
| 19 | g.5691545T>A | CA403524042 | RPL36 | c.242T>A (p.Ile81Asn) c.*35T>A (n.*35T>A) | |
| 19 | g.5691545T>C | CA403524043 | RPL36 | c.242T>C (p.Ile81Thr) c.*35T>C (n.*35T>C) | |
| 19 | g.5691545T>G | CA403524044 | RPL36 | c.242T>G (p.Ile81Ser) c.*35T>G (n.*35T>G) | |
| 19 | g.5691546C>A | CA505179892 | RPL36 | c.243C>A (p.Ile81=) c.*36C>A (n.*36C>A) | |
| 19 | g.5691546C= | CA2320058016 | RPL36 | c.243C= (p.Ile81=) c.*36C= (n.*36C=) | |
| 19 | g.5691546C>G | CA403524045 | RPL36 | c.243C>G (p.Ile81Met) c.*36C>G (n.*36C>G) | dbSNP gnomAD v4 COSMIC |
| 19 | g.5691546C>T | CA505179894 | RPL36 | c.243C>T (p.Ile81=) c.*36C>T (n.*36C>T) | gnomAD v4 |
| 19 | g.5691547C>A | CA403524046 | RPL36 | c.244C>A (p.Arg82Ser) c.*37C>A (n.*37C>A) | |
| 19 | g.5691547C= | CA2320058017 | RPL36 | c.244C= (p.Arg82=) c.*37C= (n.*37C=) | |
| 19 | g.5691547C>G | CA403524047 | RPL36 | c.244C>G (p.Arg82Gly) c.*37C>G (n.*37C>G) | gnomAD v4 |
| 19 | g.5691547C>T | CA9113853 | RPL36 | c.244C>T (p.Arg82Cys) c.*37C>T (n.*37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691548G>A | CA403524048 | RPL36 | c.245G>A (p.Arg82His) c.*38G>A (n.*38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691548G>C | CA403524049 | RPL36 | c.245G>C (p.Arg82Pro) c.*38G>C (n.*38G>C) | |
| 19 | g.5691548G= | CA2320058018 | RPL36 | c.245G= (p.Arg82=) c.*38G= (n.*38G=) | |
| 19 | g.5691548G>T | CA403524050 | RPL36 | c.245G>T (p.Arg82Leu) c.*38G>T (n.*38G>T) | |
| 19 | g.5691549C>A | CA505179896 | RPL36 | c.246C>A (p.Arg82=) c.*39C>A (n.*39C>A) | |
| 19 | g.5691549C= | CA2320058019 | RPL36 | c.246C= (p.Arg82=) c.*39C= (n.*39C=) | |
| 19 | g.5691549C>G | CA9113854 | RPL36 | c.246C>G (p.Arg82=) c.*39C>G (n.*39C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691549C>T | CA505179897 | RPL36 | c.246C>T (p.Arg82=) c.*39C>T (n.*39C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691550G>A | CA403524053 | RPL36 | c.247G>A (p.Ala83Thr) c.*40G>A (n.*40G>A) | |
| 19 | g.5691550G>C | CA403524052 | RPL36 | c.247G>C (p.Ala83Pro) c.*40G>C (n.*40G>C) | gnomAD v4 |
| 19 | g.5691550G>T | CA403524051 | RPL36 | c.247G>T (p.Ala83Ser) c.*40G>T (n.*40G>T) | |
| 19 | g.5691551C>A | CA403524054 | RPL36 | c.248C>A (p.Ala83Asp) c.*41C>A (n.*41C>A) | |
| 19 | g.5691551C>G | CA403524055 | RPL36 | c.248C>G (p.Ala83Gly) c.*41C>G (n.*41C>G) | |
| 19 | g.5691551C>T | CA403524056 | RPL36 | c.248C>T (p.Ala83Val) c.*41C>T (n.*41C>T) | |
| 19 | g.5691552C>A | CA505179899 | RPL36 | c.249C>A (p.Ala83=) c.*42C>A (n.*42C>A) | |
| 19 | g.5691552C= | CA2320058020 | RPL36 | c.249C= (p.Ala83=) c.*42C= (n.*42C=) | |
| 19 | g.5691552C>G | CA505179901 | RPL36 | c.249C>G (p.Ala83=) c.*42C>G (n.*42C>G) | |
| 19 | g.5691552C>T | CA505179902 | RPL36 | c.249C>T (p.Ala83=) c.*42C>T (n.*42C>T) | dbSNP gnomAD v4 |
| 19 | g.5691553A= | CA2320058022 | RPL36 | c.250A= (p.Lys84=) c.*43A= (n.*43A=) | |
| 19 | g.5691553A>C | CA403524057 | RPL36 | c.250A>C (p.Lys84Gln) c.*43A>C (n.*43A>C) | gnomAD v4 |
| 19 | g.5691553A>G | CA403524058 | RPL36 | c.250A>G (p.Lys84Glu) c.*43A>G (n.*43A>G) | dbSNP gnomAD v4 |
| 19 | g.5691553A>T | CA403524059 | RPL36 | c.250A>T (p.Lys84Ter) c.*43A>T (n.*43A>T) | |
| 19 | g.5691553_5691555delinsAAG | CA2320058021 | RPL36 | c.250_252delinsAAG (p.Lys84=) c.*43_*45delinsAAG (n.*43_*45delinsAAG) | |
| 19 | g.5691554A>C | CA403524060 | RPL36 | c.251A>C (p.Lys84Thr) c.*44A>C (n.*44A>C) | |
| 19 | g.5691554A>G | CA403524061 | RPL36 | c.251A>G (p.Lys84Arg) c.*44A>G (n.*44A>G) | gnomAD v4 |
| 19 | g.5691554A>T | CA403524062 | RPL36 | c.251A>T (p.Lys84Met) c.*44A>T (n.*44A>T) | |
| 19 | g.5691556_5691557del | CA304607181 | RPL36 | c.253_254del (p.Arg85GlufsTer?) c.*46_*47del (n.*46_*47del) | dbSNP |
| 19 | g.5691555G>A | CA505179905 | RPL36 | c.252G>A (p.Lys84=) c.*45G>A (n.*45G>A) | gnomAD v4 COSMIC |
| 19 | g.5691555G>C | CA403524063 | RPL36 | c.252G>C (p.Lys84Asn) c.*45G>C (n.*45G>C) | |
| 19 | g.5691555G>T | CA403524064 | RPL36 | c.252G>T (p.Lys84Asn) c.*45G>T (n.*45G>T) | |
| 19 | g.5691556A= | CA2320058023 | RPL36 | c.253A= (p.Arg85=) c.*46A= (n.*46A=) | |
| 19 | g.5691556A>C | CA9113855 | RPL36 | c.253A>C (p.Arg85=) c.*46A>C (n.*46A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691556A>G | CA403524066 | RPL36 | c.253A>G (p.Arg85Gly) c.*46A>G (n.*46A>G) | |
| 19 | g.5691556A>T | CA403524065 | RPL36 | c.253A>T (p.Arg85Trp) c.*46A>T (n.*46A>T) | |
| 19 | g.5691557G>A | CA403524067 | RPL36 | c.254G>A (p.Arg85Lys) c.*47G>A (n.*47G>A) | gnomAD v4 COSMIC |
| 19 | g.5691557G>C | CA403524068 | RPL36 | c.254G>C (p.Arg85Thr) c.*47G>C (n.*47G>C) | |
| 19 | g.5691557G>T | CA403524069 | RPL36 | c.254G>T (p.Arg85Met) c.*47G>T (n.*47G>T) | |
| 19 | g.5691558G>A | CA505179907 | RPL36 | c.255G>A (p.Arg85=) c.*48G>A (n.*48G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691558G>C | CA403524070 | RPL36 | c.255G>C (p.Arg85Ser) c.*48G>C (n.*48G>C) | |
| 19 | g.5691558G= | CA2320058024 | RPL36 | c.255G= (p.Arg85=) c.*48G= (n.*48G=) | |
| 19 | g.5691558G>T | CA403524071 | RPL36 | c.255G>T (p.Arg85Ser) c.*48G>T (n.*48G>T) | |
| 19 | g.5691559A>C | CA403524072 | RPL36 | c.256A>C (p.Lys86Gln) c.*49A>C (n.*49A>C) | |
| 19 | g.5691559A>G | CA403524073 | RPL36 | c.256A>G (p.Lys86Glu) c.*49A>G (n.*49A>G) | |
| 19 | g.5691559A>T | CA403524074 | RPL36 | c.256A>T (p.Lys86Ter) c.*49A>T (n.*49A>T) | |
| 19 | g.5691560A>C | CA403524075 | RPL36 | c.257A>C (p.Lys86Thr) c.*50A>C (n.*50A>C) | |
| 19 | g.5691560A>G | CA403524076 | RPL36 | c.257A>G (p.Lys86Arg) c.*50A>G (n.*50A>G) | |
| 19 | g.5691560A>T | CA403524077 | RPL36 | c.257A>T (p.Lys86Met) c.*50A>T (n.*50A>T) |