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.5691562C>A | CA505179909 | RPL36 | c.259C>A (p.Arg87=) c.*52C>A (n.*52C>A) | dbSNP |
| 19 | g.5691562C= | CA2320058025 | RPL36 | c.259C= (p.Arg87=) c.*52C= (n.*52C=) | |
| 19 | g.5691562C>G | CA403524080 | RPL36 | c.259C>G (p.Arg87Gly) c.*52C>G (n.*52C>G) | |
| 19 | g.5691562C>T | CA403524081 | RPL36 | c.259C>T (p.Arg87Trp) c.*52C>T (n.*52C>T) | gnomAD v4 |
| 19 | g.5691563G>A | CA403524082 | RPL36 | c.260G>A (p.Arg87Gln) c.*53G>A (n.*53G>A) | |
| 19 | g.5691563G>C | CA403524083 | RPL36 | c.260G>C (p.Arg87Pro) c.*53G>C (n.*53G>C) | |
| 19 | g.5691563G>T | CA403524084 | RPL36 | c.260G>T (p.Arg87Leu) c.*53G>T (n.*53G>T) | |
| 19 | g.5691564G>A | CA304607182 | RPL36 | c.261G>A (p.Arg87=) c.*54G>A (n.*54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691564G>C | CA505179911 | RPL36 | c.261G>C (p.Arg87=) c.*54G>C (n.*54G>C) | |
| 19 | g.5691564G= | CA2320058026 | RPL36 | c.261G= (p.Arg87=) c.*54G= (n.*54G=) | |
| 19 | g.5691564G>T | CA505179910 | RPL36 | c.261G>T (p.Arg87=) c.*54G>T (n.*54G>T) | |
| 19 | g.5691565G>A | CA403524085 | RPL36 | c.262G>A (p.Glu88Lys) c.*55G>A (n.*55G>A) | |
| 19 | g.5691565G>C | CA403524086 | RPL36 | c.262G>C (p.Glu88Gln) c.*55G>C (n.*55G>C) | |
| 19 | g.5691565G>T | CA403524087 | RPL36 | c.262G>T (p.Glu88Ter) c.*55G>T (n.*55G>T) | |
| 19 | g.5691566A>C | CA403524088 | RPL36 | c.263A>C (p.Glu88Ala) c.*56A>C (n.*56A>C) | |
| 19 | g.5691566A>G | CA403524089 | RPL36 | c.263A>G (p.Glu88Gly) c.*56A>G (n.*56A>G) | |
| 19 | g.5691566A>T | CA403524090 | RPL36 | c.263A>T (p.Glu88Val) c.*56A>T (n.*56A>T) | |
| 19 | g.5691567G>A | CA505179914 | RPL36 | c.264G>A (p.Glu88=) c.*57G>A (n.*57G>A) | dbSNP gnomAD v4 |
| 19 | g.5691567G>C | CA403524091 | RPL36 | c.264G>C (p.Glu88Asp) c.*57G>C (n.*57G>C) | gnomAD v4 |
| 19 | g.5691567G= | CA2320058027 | RPL36 | c.264G= (p.Glu88=) c.*57G= (n.*57G=) | |
| 19 | g.5691567G>T | CA403524092 | RPL36 | c.264G>T (p.Glu88Asp) c.*57G>T (n.*57G>T) | |
| 19 | g.5691568G>A | CA403524095 | RPL36 | c.265G>A (p.Glu89Lys) c.*58G>A (n.*58G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691568G>C | CA403524094 | RPL36 | c.265G>C (p.Glu89Gln) c.*58G>C (n.*58G>C) | |
| 19 | g.5691568G= | CA2320058028 | RPL36 | c.265G= (p.Glu89=) c.*58G= (n.*58G=) | |
| 19 | g.5691568G>T | CA403524093 | RPL36 | c.265G>T (p.Glu89Ter) c.*58G>T (n.*58G>T) | |
| 19 | g.5691569A>C | CA403524096 | RPL36 | c.266A>C (p.Glu89Ala) c.*59A>C (n.*59A>C) | |
| 19 | g.5691569A>G | CA403524098 | RPL36 | c.266A>G (p.Glu89Gly) c.*59A>G (n.*59A>G) | |
| 19 | g.5691569A>T | CA403524097 | RPL36 | c.266A>T (p.Glu89Val) c.*59A>T (n.*59A>T) | |
| 19 | g.5691570G>A | CA505179917 | RPL36 | c.267G>A (p.Glu89=) c.*60G>A (n.*60G>A) | |
| 19 | g.5691570G>C | CA403524099 | RPL36 | c.267G>C (p.Glu89Asp) c.*60G>C (n.*60G>C) | |
| 19 | g.5691570G>T | CA403524100 | RPL36 | c.267G>T (p.Glu89Asp) c.*60G>T (n.*60G>T) | |
| 19 | g.5691571C>A | CA403524101 | RPL36 | c.268C>A (p.Leu90Met) c.*61C>A (n.*61C>A) | |
| 19 | g.5691571C>G | CA403524102 | RPL36 | c.268C>G (p.Leu90Val) c.*61C>G (n.*61C>G) | |
| 19 | g.5691571C>T | CA505179918 | RPL36 | c.268C>T (p.Leu90=) c.*61C>T (n.*61C>T) | |
| 19 | g.5691572T>A | CA403524103 | RPL36 | c.269T>A (p.Leu90Gln) c.*62T>A (n.*62T>A) | |
| 19 | g.5691572T>C | CA403524104 | RPL36 | c.269T>C (p.Leu90Pro) c.*62T>C (n.*62T>C) | |
| 19 | g.5691572T>G | CA403524105 | RPL36 | c.269T>G (p.Leu90Arg) c.*62T>G (n.*62T>G) | |
| 19 | g.5691573G>A | CA505179919 | RPL36 | c.270G>A (p.Leu90=) c.*63G>A (n.*63G>A) | |
| 19 | g.5691573G>C | CA505179920 | RPL36 | c.270G>C (p.Leu90=) c.*63G>C (n.*63G>C) | dbSNP gnomAD v4 |
| 19 | g.5691573G= | CA2320058029 | RPL36 | c.270G= (p.Leu90=) c.*63G= (n.*63G=) | |
| 19 | g.5691573G>T | CA505179921 | RPL36 | c.270G>T (p.Leu90=) c.*63G>T (n.*63G>T) | gnomAD v4 |
| 19 | g.5691574A>C | CA403524106 | RPL36 | c.271A>C (p.Ser91Arg) c.*64A>C (n.*64A>C) | |
| 19 | g.5691574A>G | CA403524107 | RPL36 | c.271A>G (p.Ser91Gly) c.*64A>G (n.*64A>G) | gnomAD v4 |
| 19 | g.5691574A>T | CA403524108 | RPL36 | c.271A>T (p.Ser91Cys) c.*64A>T (n.*64A>T) | |
| 19 | g.5691575G>A | CA403524109 | RPL36 | c.272G>A (p.Ser91Asn) c.*65G>A (n.*65G>A) | |
| 19 | g.5691575G>C | CA403524110 | RPL36 | c.272G>C (p.Ser91Thr) c.*65G>C (n.*65G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691575G= | CA2320058030 | RPL36 | c.272G= (p.Ser91=) c.*65G= (n.*65G=) | |
| 19 | g.5691575G>T | CA403524111 | RPL36 | c.272G>T (p.Ser91Ile) c.*65G>T (n.*65G>T) | |
| 19 | g.5691576C>A | CA403524112 | RPL36 | c.273C>A (p.Ser91Arg) c.*66C>A (n.*66C>A) | |
| 19 | g.5691576C= | CA2320058031 | RPL36 | c.273C= (p.Ser91=) c.*66C= (n.*66C=) | |
| 19 | g.5691576C>G | CA403524113 | RPL36 | c.273C>G (p.Ser91Arg) c.*66C>G (n.*66C>G) | |
| 19 | g.5691576C>T | CA505179922 | RPL36 | c.273C>T (p.Ser91=) c.*66C>T (n.*66C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691577A= | CA2320058032 | RPL36 | c.274A= (p.Asn92=) c.*67A= (n.*67A=) | |
| 19 | g.5691577A>C | CA403524114 | RPL36 | c.274A>C (p.Asn92His) c.*67A>C (n.*67A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691577A>G | CA403524115 | RPL36 | c.274A>G (p.Asn92Asp) c.*67A>G (n.*67A>G) | |
| 19 | g.5691577A>T | CA403524116 | RPL36 | c.274A>T (p.Asn92Tyr) c.*67A>T (n.*67A>T) | |
| 19 | g.5691578A= | CA2320058033 | RPL36 | c.275A= (p.Asn92=) c.*68A= (n.*68A=) | |
| 19 | g.5691578A>C | CA403524117 | RPL36 | c.275A>C (p.Asn92Thr) c.*68A>C (n.*68A>C) | |
| 19 | g.5691578A>G | CA304607183 | RPL36 | c.275A>G (p.Asn92Ser) c.*68A>G (n.*68A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691578A>T | CA403524118 | RPL36 | c.275A>T (p.Asn92Ile) c.*68A>T (n.*68A>T) | |
| 19 | g.5691579C>A | CA403524119 | RPL36 | c.276C>A (p.Asn92Lys) c.*69C>A (n.*69C>A) | |
| 19 | g.5691579C= | CA2320058034 | RPL36 | c.276C= (p.Asn92=) c.*69C= (n.*69C=) | |
| 19 | g.5691579C>G | CA403524120 | RPL36 | c.276C>G (p.Asn92Lys) c.*69C>G (n.*69C>G) | gnomAD v4 |
| 19 | g.5691579C>T | CA505179923 | RPL36 | c.276C>T (p.Asn92=) c.*69C>T (n.*69C>T) | dbSNP gnomAD v4 |
| 19 | g.5691580G>A | CA403524121 | RPL36 | c.277G>A (p.Val93Ile) c.*70G>A (n.*70G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691580G>C | CA403524122 | RPL36 | c.277G>C (p.Val93Leu) c.*70G>C (n.*70G>C) | |
| 19 | g.5691580G= | CA2320058035 | RPL36 | c.277G= (p.Val93=) c.*70G= (n.*70G=) | |
| 19 | g.5691580G>T | CA403524123 | RPL36 | c.277G>T (p.Val93Leu) c.*70G>T (n.*70G>T) | |
| 19 | g.5691581T>A | CA403524126 | RPL36 | c.278T>A (p.Val93Glu) c.*71T>A (n.*71T>A) | |
| 19 | g.5691581T>C | CA403524125 | RPL36 | c.278T>C (p.Val93Ala) c.*71T>C (n.*71T>C) | dbSNP |
| 19 | g.5691581T>G | CA403524124 | RPL36 | c.278T>G (p.Val93Gly) c.*71T>G (n.*71T>G) | |
| 19 | g.5691581T= | CA2320058036 | RPL36 | c.278T= (p.Val93=) c.*71T= (n.*71T=) | |
| 19 | g.5691582A>C | CA505179925 | RPL36 | c.279A>C (p.Val93=) c.*72A>C (n.*72A>C) | |
| 19 | g.5691582A>G | CA505179926 | RPL36 | c.279A>G (p.Val93=) c.*72A>G (n.*72A>G) | |
| 19 | g.5691582A>T | CA505179927 | RPL36 | c.279A>T (p.Val93=) c.*72A>T (n.*72A>T) | |
| 19 | g.5691583C>A | CA403524127 | RPL36 | c.280C>A (p.Leu94Met) c.*73C>A (n.*73C>A) | gnomAD v4 |
| 19 | g.5691583C= | CA2320058037 | RPL36 | c.280C= (p.Leu94=) c.*73C= (n.*73C=) | |
| 19 | g.5691583C>G | CA403524128 | RPL36 | c.280C>G (p.Leu94Val) c.*73C>G (n.*73C>G) | |
| 19 | g.5691583C>T | CA505179928 | RPL36 | c.280C>T (p.Leu94=) c.*73C>T (n.*73C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691584T>A | CA304607184 | RPL36 | c.281T>A (p.Leu94Gln) c.*74T>A (n.*74T>A) | dbSNP |
| 19 | g.5691584T>C | CA403524129 | RPL36 | c.281T>C (p.Leu94Pro) c.*74T>C (n.*74T>C) | |
| 19 | g.5691584T>G | CA403524130 | RPL36 | c.281T>G (p.Leu94Arg) c.*74T>G (n.*74T>G) | |
| 19 | g.5691584T= | CA2320058038 | RPL36 | c.281T= (p.Leu94=) c.*74T= (n.*74T=) | |
| 19 | g.5691585G>A | CA505179931 | RPL36 | c.282G>A (p.Leu94=) c.*75G>A (n.*75G>A) | |
| 19 | g.5691585G>C | CA505179929 | RPL36 | c.282G>C (p.Leu94=) c.*75G>C (n.*75G>C) | |
| 19 | g.5691585G>T | CA505179930 | RPL36 | c.282G>T (p.Leu94=) c.*75G>T (n.*75G>T) | |
| 19 | g.5691586G>A | CA9113856 | RPL36 | c.283G>A (p.Ala95Thr) c.*76G>A (n.*76G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691586G>C | CA403524132 | RPL36 | c.283G>C (p.Ala95Pro) c.*76G>C (n.*76G>C) | |
| 19 | g.5691586G= | CA2320058039 | RPL36 | c.283G= (p.Ala95=) c.*76G= (n.*76G=) | |
| 19 | g.5691586G>T | CA403524131 | RPL36 | c.283G>T (p.Ala95Ser) c.*76G>T (n.*76G>T) | |
| 19 | g.5691587C>A | CA403524133 | RPL36 | c.284C>A (p.Ala95Asp) c.*77C>A (n.*77C>A) | |
| 19 | g.5691587C= | CA2320058040 | RPL36 | c.284C= (p.Ala95=) c.*77C= (n.*77C=) | |
| 19 | g.5691587C>G | CA403524134 | RPL36 | c.284C>G (p.Ala95Gly) c.*77C>G (n.*77C>G) | |
| 19 | g.5691587C>T | CA9113857 | RPL36 | c.284C>T (p.Ala95Val) c.*77C>T (n.*77C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.5691588C>A | CA505179934 | RPL36 | c.285C>A (p.Ala95=) c.*78C>A (n.*78C>A) | gnomAD v4 |
| 19 | g.5691588C= | CA2320058041 | RPL36 | c.285C= (p.Ala95=) c.*78C= (n.*78C=) | |
| 19 | g.5691588C>G | CA505179935 | RPL36 | c.285C>G (p.Ala95=) c.*78C>G (n.*78C>G) | gnomAD v4 |
| 19 | g.5691588C>T | CA505179936 | RPL36 | c.285C>T (p.Ala95=) c.*78C>T (n.*78C>T) | dbSNP gnomAD v4 |
| 19 | g.5691589G>A | CA403524135 | RPL36 | c.286G>A (p.Ala96Thr) c.*79G>A (n.*79G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691589G>C | CA403524136 | RPL36 | c.286G>C (p.Ala96Pro) c.*79G>C (n.*79G>C) | |
| 19 | g.5691589G= | CA2320058042 | RPL36 | c.286G= (p.Ala96=) c.*79G= (n.*79G=) | |
| 19 | g.5691589G>T | CA403524137 | RPL36 | c.286G>T (p.Ala96Ser) c.*79G>T (n.*79G>T) | |
| 19 | g.5691590C>A | CA403524138 | RPL36 | c.287C>A (p.Ala96Asp) c.*80C>A (n.*80C>A) | |
| 19 | g.5691590C= | CA2320058043 | RPL36 | c.287C= (p.Ala96=) c.*80C= (n.*80C=) | |
| 19 | g.5691590C>G | CA403524140 | RPL36 | c.287C>G (p.Ala96Gly) c.*80C>G (n.*80C>G) | gnomAD v4 |
| 19 | g.5691590C>T | CA403524139 | RPL36 | c.287C>T (p.Ala96Val) c.*80C>T (n.*80C>T) | dbSNP gnomAD v2 |
| 19 | g.5691591C>A | CA505179938 | RPL36 | c.288C>A (p.Ala96=) c.*81C>A (n.*81C>A) | |
| 19 | g.5691591C= | CA2320058044 | RPL36 | c.288C= (p.Ala96=) c.*81C= (n.*81C=) | |
| 19 | g.5691591C>G | CA505179937 | RPL36 | c.288C>G (p.Ala96=) c.*81C>G (n.*81C>G) | |
| 19 | g.5691591C>T | CA505179939 | RPL36 | c.288C>T (p.Ala96=) c.*81C>T (n.*81C>T) | dbSNP gnomAD v4 |
| 19 | g.5691592A= | CA2320058045 | RPL36 | c.289A= (p.Met97=) c.*82A= (n.*82A=) | |
| 19 | g.5691592A>C | CA403524141 | RPL36 | c.289A>C (p.Met97Leu) c.*82A>C (n.*82A>C) | gnomAD v4 |
| 19 | g.5691592A>G | CA403524142 | RPL36 | c.289A>G (p.Met97Val) c.*82A>G (n.*82A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691592A>T | CA403524143 | RPL36 | c.289A>T (p.Met97Leu) c.*82A>T (n.*82A>T) | |
| 19 | g.5691593T>A | CA403524144 | RPL36 | c.290T>A (p.Met97Lys) c.*83T>A (n.*83T>A) | |
| 19 | g.5691593T>C | CA403524145 | RPL36 | c.290T>C (p.Met97Thr) c.*83T>C (n.*83T>C) | gnomAD v4 |
| 19 | g.5691593T>G | CA403524146 | RPL36 | c.290T>G (p.Met97Arg) c.*83T>G (n.*83T>G) | gnomAD v4 |
| 19 | g.5691594G>A | CA403524147 | RPL36 | c.291G>A (p.Met97Ile) c.*84G>A (n.*84G>A) | |
| 19 | g.5691594G>C | CA403524148 | RPL36 | c.291G>C (p.Met97Ile) c.*84G>C (n.*84G>C) | |
| 19 | g.5691594G>T | CA403524149 | RPL36 | c.291G>T (p.Met97Ile) c.*84G>T (n.*84G>T) | |
| 19 | g.5691595A>C | CA505179942 | RPL36 | c.292A>C (p.Arg98=) c.*85A>C (n.*85A>C) | |
| 19 | g.5691595A>G | CA403524150 | RPL36 | c.292A>G (p.Arg98Gly) c.*85A>G (n.*85A>G) | |
| 19 | g.5691595A>T | CA403524151 | RPL36 | c.292A>T (p.Arg98Trp) c.*85A>T (n.*85A>T) | |
| 19 | g.5691596G>A | CA403524154 | RPL36 | c.293G>A (p.Arg98Lys) c.*86G>A (n.*86G>A) | gnomAD v4 |
| 19 | g.5691596G>C | CA403524153 | RPL36 | c.293G>C (p.Arg98Thr) c.*86G>C (n.*86G>C) | |
| 19 | g.5691596G>T | CA403524152 | RPL36 | c.293G>T (p.Arg98Met) c.*86G>T (n.*86G>T) | |
| 19 | g.5691597G>A | CA505179945 | RPL36 | c.294G>A (p.Arg98=) c.*87G>A (n.*87G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691597G>C | CA403524156 | RPL36 | c.294G>C (p.Arg98Ser) c.*87G>C (n.*87G>C) | |
| 19 | g.5691597G= | CA2320058046 | RPL36 | c.294G= (p.Arg98=) c.*87G= (n.*87G=) | |
| 19 | g.5691597G>T | CA403524155 | RPL36 | c.294G>T (p.Arg98Ser) c.*87G>T (n.*87G>T) | |
| 19 | g.5691598A>C | CA403524158 | RPL36 | c.295A>C (p.Lys99Gln) c.*88A>C (n.*88A>C) | |
| 19 | g.5691598A>G | CA403524157 | RPL36 | c.295A>G (p.Lys99Glu) c.*88A>G (n.*88A>G) | |
| 19 | g.5691598A>T | CA403524159 | RPL36 | c.295A>T (p.Lys99Ter) c.*88A>T (n.*88A>T) | |
| 19 | g.5691599A>C | CA403524160 | RPL36 | c.296A>C (p.Lys99Thr) c.*89A>C (n.*89A>C) | |
| 19 | g.5691599A>G | CA403524161 | RPL36 | c.296A>G (p.Lys99Arg) c.*89A>G (n.*89A>G) | |
| 19 | g.5691599A>T | CA403524162 | RPL36 | c.296A>T (p.Lys99Ile) c.*89A>T (n.*89A>T) | |
| 19 | g.5691600A>C | CA403524163 | RPL36 | c.297A>C (p.Lys99Asn) c.*90A>C (n.*90A>C) | |
| 19 | g.5691600A>G | CA505179947 | RPL36 | c.297A>G (p.Lys99=) c.*90A>G (n.*90A>G) | |
| 19 | g.5691600A>T | CA403524164 | RPL36 | c.297A>T (p.Lys99Asn) c.*90A>T (n.*90A>T) | |
| 19 | g.5691601G>A | CA403524165 | RPL36 | c.298G>A (p.Ala100Thr) c.*91G>A (n.*91G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691601G>C | CA403524166 | RPL36 | c.298G>C (p.Ala100Pro) c.*91G>C (n.*91G>C) | gnomAD v4 |
| 19 | g.5691601G= | CA2320058047 | RPL36 | c.298G= (p.Ala100=) c.*91G= (n.*91G=) | |
| 19 | g.5691601G>T | CA403524167 | RPL36 | c.298G>T (p.Ala100Ser) c.*91G>T (n.*91G>T) | |
| 19 | g.5691602C>A | CA403524168 | RPL36 | c.299C>A (p.Ala100Asp) c.*92C>A (n.*92C>A) | |
| 19 | g.5691602C>G | CA403524169 | RPL36 | c.299C>G (p.Ala100Gly) c.*92C>G (n.*92C>G) | |
| 19 | g.5691602C>T | CA403524170 | RPL36 | c.299C>T (p.Ala100Val) c.*92C>T (n.*92C>T) | |
| 19 | g.5691603T>A | CA505179950 | RPL36 | c.300T>A (p.Ala100=) c.*93T>A (n.*93T>A) | |
| 19 | g.5691603T>C | CA505179951 | RPL36 | c.300T>C (p.Ala100=) c.*93T>C (n.*93T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691603T>G | CA505179952 | RPL36 | c.300T>G (p.Ala100=) c.*93T>G (n.*93T>G) | |
| 19 | g.5691603T= | CA2320058048 | RPL36 | c.300T= (p.Ala100=) c.*93T= (n.*93T=) | |
| 19 | g.5691604G>A | CA403524173 | RPL36 | c.301G>A (p.Ala101Thr) c.*94G>A (n.*94G>A) | |
| 19 | g.5691604G>C | CA403524172 | RPL36 | c.301G>C (p.Ala101Pro) c.*94G>C (n.*94G>C) | |
| 19 | g.5691604G>T | CA403524171 | RPL36 | c.301G>T (p.Ala101Ser) c.*94G>T (n.*94G>T) | |
| 19 | g.5691605C>A | CA403524174 | RPL36 | c.302C>A (p.Ala101Asp) c.*95C>A (n.*95C>A) | |
| 19 | g.5691605C>G | CA403524175 | RPL36 | c.302C>G (p.Ala101Gly) c.*95C>G (n.*95C>G) | |
| 19 | g.5691605C>T | CA403524176 | RPL36 | c.302C>T (p.Ala101Val) c.*95C>T (n.*95C>T) | |
| 19 | g.5691606T>A | CA505179955 | RPL36 | c.303T>A (p.Ala101=) c.*96T>A (n.*96T>A) | |
| 19 | g.5691606T>C | CA505179953 | RPL36 | c.303T>C (p.Ala101=) c.*96T>C (n.*96T>C) | |
| 19 | g.5691606T>G | CA505179954 | RPL36 | c.303T>G (p.Ala101=) c.*96T>G (n.*96T>G) | |
| 19 | g.5691607G>A | CA403524177 | RPL36 | c.304G>A (p.Ala102Thr) c.*97G>A (n.*97G>A) | gnomAD v4 |
| 19 | g.5691607G>C | CA403524178 | RPL36 | c.304G>C (p.Ala102Pro) c.*97G>C (n.*97G>C) | |
| 19 | g.5691607G>T | CA403524179 | RPL36 | c.304G>T (p.Ala102Ser) c.*97G>T (n.*97G>T) | |
| 19 | g.5691608C>A | CA403524180 | RPL36 | c.305C>A (p.Ala102Asp) c.*98C>A (n.*98C>A) | |
| 19 | g.5691608C= | CA2320058049 | RPL36 | c.305C= (p.Ala102=) c.*98C= (n.*98C=) | |
| 19 | g.5691608C>G | CA403524181 | RPL36 | c.305C>G (p.Ala102Gly) c.*98C>G (n.*98C>G) | |
| 19 | g.5691608C>T | CA403524182 | RPL36 | c.305C>T (p.Ala102Val) c.*98C>T (n.*98C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691609C>A | CA505179957 | RPL36 | c.306C>A (p.Ala102=) c.*99C>A (n.*99C>A) | |
| 19 | g.5691609C= | CA2320058050 | RPL36 | c.306C= (p.Ala102=) c.*99C= (n.*99C=) | |
| 19 | g.5691609C>G | CA505179958 | RPL36 | c.306C>G (p.Ala102=) c.*99C>G (n.*99C>G) | |
| 19 | g.5691609C>T | CA505179959 | RPL36 | c.306C>T (p.Ala102=) c.*99C>T (n.*99C>T) | dbSNP gnomAD v4 |
| 19 | g.5691610A>C | CA403524183 | RPL36 | c.307A>C (p.Lys103Gln) c.*100A>C (n.*100A>C) | |
| 19 | g.5691610A>G | CA403524184 | RPL36 | c.307A>G (p.Lys103Glu) c.*100A>G (n.*100A>G) | |
| 19 | g.5691610A>T | CA403524185 | RPL36 | c.307A>T (p.Lys103Ter) c.*100A>T (n.*100A>T) | |
| 19 | g.5691611A>C | CA403524187 | RPL36 | c.308A>C (p.Lys103Thr) c.*101A>C (n.*101A>C) | |
| 19 | g.5691611A>G | CA403524188 | RPL36 | c.308A>G (p.Lys103Arg) c.*101A>G (n.*101A>G) | gnomAD v4 |
| 19 | g.5691611A>T | CA403524186 | RPL36 | c.308A>T (p.Lys103Met) c.*101A>T (n.*101A>T) | |
| 19 | g.5691612G>A | CA505179960 | RPL36 | c.309G>A (p.Lys103=) c.*102G>A (n.*102G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691612G>C | CA403524189 | RPL36 | c.309G>C (p.Lys103Asn) c.*102G>C (n.*102G>C) | |
| 19 | g.5691612G= | CA2320058051 | RPL36 | c.309G= (p.Lys103=) c.*102G= (n.*102G=) | |
| 19 | g.5691612G>T | CA403524190 | RPL36 | c.309G>T (p.Lys103Asn) c.*102G>T (n.*102G>T) | |
| 19 | g.5691613A>C | CA403524191 | RPL36 | c.310A>C (p.Lys104Gln) c.*103A>C (n.*103A>C) | |
| 19 | g.5691613A>G | CA403524192 | RPL36 | c.310A>G (p.Lys104Glu) c.*103A>G (n.*103A>G) | |
| 19 | g.5691613A>T | CA403524193 | RPL36 | c.310A>T (p.Lys104Ter) c.*103A>T (n.*103A>T) | |
| 19 | g.5691614_5691615del | CA2813410200 | RPL36 | c.311_312del (p.Lys104ArgfsTer12) c.311_312del (p.Lys104ArgfsTer?) c.*104_*105del (n.*104_*105del) | |
| 19 | g.5691614A>C | CA403524194 | RPL36 | c.311A>C (p.Lys104Thr) c.*104A>C (n.*104A>C) | gnomAD v4 |
| 19 | g.5691614A>G | CA403524195 | RPL36 | c.311A>G (p.Lys104Arg) c.*104A>G (n.*104A>G) | gnomAD v4 |
| 19 | g.5691614A>T | CA403524196 | RPL36 | c.311A>T (p.Lys104Ile) c.*104A>T (n.*104A>T) | |
| 19 | g.5691615A>C | CA403524197 | RPL36 | c.312A>C (p.Lys104Asn) c.*105A>C (n.*105A>C) | |
| 19 | g.5691615A>G | CA505179961 | RPL36 | c.312A>G (p.Lys104=) c.*105A>G (n.*105A>G) | gnomAD v4 |
| 19 | g.5691615A>T | CA403524198 | RPL36 | c.312A>T (p.Lys104Asn) c.*105A>T (n.*105A>T) | |
| 19 | g.5691616G>A | CA403524199 | RPL36 | c.313G>A (p.Asp105Asn) c.*106G>A (n.*106G>A) | |
| 19 | g.5691616G>C | CA403524200 | RPL36 | c.313G>C (p.Asp105His) c.*106G>C (n.*106G>C) | |
| 19 | g.5691616G>T | CA403524201 | RPL36 | c.313G>T (p.Asp105Tyr) c.*106G>T (n.*106G>T) | gnomAD v4 |
| 19 | g.5691617A= | CA2320058052 | RPL36 | c.314A= (p.Asp105=) c.*107A= (n.*107A=) | |
| 19 | g.5691617A>C | CA403524203 | RPL36 | c.314A>C (p.Asp105Ala) c.*107A>C (n.*107A>C) | |
| 19 | g.5691617A>G | CA304607185 | RPL36 | c.314A>G (p.Asp105Gly) c.*107A>G (n.*107A>G) | dbSNP |
| 19 | g.5691617A>T | CA403524202 | RPL36 | c.314A>T (p.Asp105Val) c.*107A>T (n.*107A>T) | |
| 19 | g.5691618C>A | CA403524204 | RPL36 | c.315C>A (p.Asp105Glu) c.*108C>A (n.*108C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691618C= | CA2320058053 | RPL36 | c.315C= (p.Asp105=) c.*108C= (n.*108C=) | |
| 19 | g.5691618C>G | CA403524205 | RPL36 | c.315C>G (p.Asp105Glu) c.*108C>G (n.*108C>G) | gnomAD v4 |
| 19 | g.5691618C>T | CA505179962 | RPL36 | c.315C>T (p.Asp105=) c.*108C>T (n.*108C>T) | |
| 19 | g.5691619T>A | CA403524206 | RPL36 | c.316T>A (p.Ter106Arg) c.*109T>A (n.*109T>A) | |
| 19 | g.5691619T>C | CA403524207 | RPL36 | c.316T>C (p.Ter106Arg) c.*109T>C (n.*109T>C) | |
| 19 | g.5691619T>G | CA403524208 | RPL36 | c.316T>G (p.Ter106Gly) c.*109T>G (n.*109T>G) | |
| 19 | g.5691620G>A | CA505179963 | RPL36 | c.317G>A (p.Ter106=) c.*110G>A (n.*110G>A) | dbSNP gnomAD v4 |
| 19 | g.5691620G>C | CA403524209 | RPL36 | c.317G>C (p.Ter106Ser) c.*110G>C (n.*110G>C) | |
| 19 | g.5691620G= | CA2320058054 | RPL36 | c.317G= (p.Ter106=) c.*110G= (n.*110G=) | |
| 19 | g.5691620G>T | CA403524210 | RPL36 | c.317G>T (p.Ter106Leu) c.*110G>T (n.*110G>T) | |
| 19 | g.5691621A>C | CA403524211 | RPL36 | c.318A>C (p.Ter106Cys) c.*111A>C (n.*111A>C) | |
| 19 | g.5691621A>G | CA403524212 | RPL36 | c.318A>G (p.Ter106Trp) c.*111A>G (n.*111A>G) | |
| 19 | g.5691621A>T | CA403524213 | RPL36 | c.318A>T (p.Ter106Cys) c.*111A>T (n.*111A>T) | |
| 19 | g.5691622_5691649dup | CA992978197 | RPL36 | c.*1_*28dup (n.*1_*28dup) c.*112_*139dup (n.*112_*139dup) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691622G= | CA2320058055 | RPL36 | c.*1G= (n.*1G=) c.*112G= (n.*112G=) | |
| 19 | g.5691622G>T | CA2320058056 | RPL36 | c.*1G>T (n.*1G>T) c.*112G>T (n.*112G>T) | dbSNP |
| 19 | g.5691622_5691627delinsGCCCCT | CA2320058057 | RPL36 | c.*1_*6delinsGCCCCT (n.*1_*6delinsGCCCCT) c.*112_*117delinsGCCCCT (n.*112_*117delinsGCCCCT) | |
| 19 | g.5691623C>A | CA2587404987 | RPL36 | c.*2C>A (n.*2C>A) c.*113C>A (n.*113C>A) | gnomAD v4 |
| 19 | g.5691623C= | CA2320058058 | RPL36 | c.*2C= (n.*2C=) c.*113C= (n.*113C=) | |
| 19 | g.5691623C>G | CA9113858 | RPL36 | c.*2C>G (n.*2C>G) c.*113C>G (n.*113C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691623C>T | CA9113859 | RPL36 | c.*2C>T (n.*2C>T) c.*113C>T (n.*113C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691628_5691632del | CA992978199 | RPL36 | c.*7_*11del (n.*7_*11del) c.*118_*122del (n.*118_*122del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691625_5691636del | CA2587404988 | RPL36 | c.*4_*15del (n.*4_*15del) c.*115_*126del (n.*115_*126del) | gnomAD v4 |
| 19 | g.5691624C= | CA2320058059 | RPL36 | c.*3C= (n.*3C=) c.*114C= (n.*114C=) | |
| 19 | g.5691624C>T | CA9113860 | RPL36 | c.*3C>T (n.*3C>T) c.*114C>T (n.*114C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691625C>A | CA2587404989 | RPL36 | c.*4C>A (n.*4C>A) c.*115C>A (n.*115C>A) | gnomAD v4 |
| 19 | g.5691625C= | CA2320058060 | RPL36 | c.*4C= (n.*4C=) c.*115C= (n.*115C=) | |
| 19 | g.5691625C>T | CA9113861 | RPL36 | c.*4C>T (n.*4C>T) c.*115C>T (n.*115C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691626C>A | CA2587404990 | RPL36 | c.*5C>A (n.*5C>A) c.*116C>A (n.*116C>A) | gnomAD v4 |
| 19 | g.5691626C= | CA2320058061 | RPL36 | c.*5C= (n.*5C=) c.*116C= (n.*116C=) | |
| 19 | g.5691626C>T | CA2587404991 | RPL36 | c.*5C>T (n.*5C>T) c.*116C>T (n.*116C>T) | gnomAD v4 |
| 19 | g.5691626_5691627insA | CA2320058062 | RPL36 | c.*5_*6insA (n.*5_*6insA) c.*116_*117insA (n.*116_*117insA) | dbSNP |
| 19 | g.5691627T>A | CA2587404992 | RPL36 | c.*6T>A (n.*6T>A) c.*117T>A (n.*117T>A) | gnomAD v4 |
| 19 | g.5691627T>C | CA2587404993 | RPL36 | c.*6T>C (n.*6T>C) c.*117T>C (n.*117T>C) | gnomAD v4 |
| 19 | g.5691628C>A | CA2587404995 | RPL36 | c.*7C>A (n.*7C>A) c.*118C>A (n.*118C>A) | gnomAD v4 |
| 19 | g.5691628C>T | CA2576584458 | RPL36 | c.*7C>T (n.*7C>T) c.*118C>T (n.*118C>T) | |
| 19 | g.5691631del | CA2587404994 | RPL36 | c.*10del (n.*10del) c.*121del (n.*121del) | gnomAD v4 |
| 19 | g.5691629C>A | CA631718740 | RPL36 | c.*8C>A (n.*8C>A) c.*119C>A (n.*119C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691629C= | CA2320058063 | RPL36 | c.*8C= (n.*8C=) c.*119C= (n.*119C=) | |
| 19 | g.5691629C>G | CA631718739 | RPL36 | c.*8C>G (n.*8C>G) c.*119C>G (n.*119C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691629C>T | CA9113862 | RPL36 | c.*8C>T (n.*8C>T) c.*119C>T (n.*119C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691630C>A | CA2587404996 | RPL36 | c.*9C>A (n.*9C>A) c.*120C>A (n.*120C>A) | gnomAD v4 |
| 19 | g.5691630C= | CA2320058064 | RPL36 | c.*9C= (n.*9C=) c.*120C= (n.*120C=) | |
| 19 | g.5691630C>G | CA631718741 | RPL36 | c.*9C>G (n.*9C>G) c.*120C>G (n.*120C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691630C>T | CA9113863 | RPL36 | c.*9C>T (n.*9C>T) c.*120C>T (n.*120C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691631C>A | CA631718742 | RPL36 | c.*10C>A (n.*10C>A) c.*121C>A (n.*121C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691631C= | CA2320058065 | RPL36 | c.*10C= (n.*10C=) c.*121C= (n.*121C=) | |
| 19 | g.5691631C>T | CA9113864 | RPL36 | c.*10C>T (n.*10C>T) c.*121C>T (n.*121C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691631_5691648dup | CA2587404997 | RPL36 | c.*10_*27dup (n.*10_*27dup) c.*121_*138dup (n.*121_*138dup) | gnomAD v4 |
| 19 | g.5691632T>G | CA304607186 | RPL36 | c.*11T>G (n.*11T>G) c.*122T>G (n.*122T>G) | dbSNP |
| 19 | g.5691632T= | CA2320058066 | RPL36 | c.*11T= (n.*11T=) c.*122T= (n.*122T=) | |
| 19 | g.5691633G>A | CA2587404998 | RPL36 | c.*12G>A (n.*12G>A) c.*123G>A (n.*123G>A) | gnomAD v4 |
| 19 | g.5691633G>C | CA2576584459 | RPL36 | c.*12G>C (n.*12G>C) c.*123G>C (n.*123G>C) | |
| 19 | g.5691633G= | CA2320058067 | RPL36 | c.*12G= (n.*12G=) c.*123G= (n.*123G=) | |
| 19 | g.5691633G>T | CA2587404999 | RPL36 | c.*12G>T (n.*12G>T) c.*123G>T (n.*123G>T) | gnomAD v4 |
| 19 | g.5691634C>A | CA2587405000 | RPL36 | c.*13C>A (n.*13C>A) c.*124C>A (n.*124C>A) | gnomAD v4 |
| 19 | g.5691634C= | CA2320058069 | RPL36 | c.*13C= (n.*13C=) c.*124C= (n.*124C=) | |
| 19 | g.5691634C>T | CA9113865 | RPL36 | c.*13C>T (n.*13C>T) c.*124C>T (n.*124C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691634_5691642dup | CA2320058068 | RPL36 | c.*13_*21dup (n.*13_*21dup) c.*124_*132dup (n.*124_*132dup) | dbSNP |
| 19 | g.5691635C>A | CA2587405001 | RPL36 | c.*14C>A (n.*14C>A) c.*125C>A (n.*125C>A) | gnomAD v4 |
| 19 | g.5691635C= | CA2320058070 | RPL36 | c.*14C= (n.*14C=) c.*125C= (n.*125C=) | |
| 19 | g.5691635C>T | CA631718743 | RPL36 | c.*14C>T (n.*14C>T) c.*125C>T (n.*125C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691636C>A | CA2587405002 | RPL36 | c.*15C>A (n.*15C>A) c.*126C>A (n.*126C>A) | gnomAD v4 |
| 19 | g.5691636C= | CA2320058071 | RPL36 | c.*15C= (n.*15C=) c.*126C= (n.*126C=) | |
| 19 | g.5691636C>G | CA2587405003 | RPL36 | c.*15C>G (n.*15C>G) c.*126C>G (n.*126C>G) | gnomAD v4 |
| 19 | g.5691636C>T | CA9113866 | RPL36 | c.*15C>T (n.*15C>T) c.*126C>T (n.*126C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691637T>C | CA631718744 | RPL36 | c.*16T>C (n.*16T>C) c.*127T>C (n.*127T>C) | dbSNP gnomAD v2 |
| 19 | g.5691637T= | CA2320058072 | RPL36 | c.*16T= (n.*16T=) c.*127T= (n.*127T=) | |
| 19 | g.5691638C>A | CA2587405004 | RPL36 | c.*17C>A (n.*17C>A) c.*128C>A (n.*128C>A) | gnomAD v4 |
| 19 | g.5691638C= | CA2320058073 | RPL36 | c.*17C= (n.*17C=) c.*128C= (n.*128C=) | |
| 19 | g.5691638C>T | CA304607187 | RPL36 | c.*17C>T (n.*17C>T) c.*128C>T (n.*128C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691639T>C | CA631718745 | RPL36 | c.*18T>C (n.*18T>C) c.*129T>C (n.*129T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691639T= | CA2320058074 | RPL36 | c.*18T= (n.*18T=) c.*129T= (n.*129T=) | |
| 19 | g.5691640C>A | CA2587405005 | RPL36 | c.*19C>A (n.*19C>A) c.*130C>A (n.*130C>A) | gnomAD v4 |
| 19 | g.5691640C= | CA2320058075 | RPL36 | c.*19C= (n.*19C=) c.*130C= (n.*130C=) | |
| 19 | g.5691640C>G | CA883867393 | RPL36 | c.*19C>G (n.*19C>G) c.*130C>G (n.*130C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691640C>T | CA9113867 | RPL36 | c.*19C>T (n.*19C>T) c.*130C>T (n.*130C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691641C>A | CA2587405006 | RPL36 | c.*20C>A (n.*20C>A) c.*131C>A (n.*131C>A) | gnomAD v4 |
| 19 | g.5691641C= | CA2320058076 | RPL36 | c.*20C= (n.*20C=) c.*131C= (n.*131C=) | |
| 19 | g.5691641C>T | CA883867407 | RPL36 | c.*20C>T (n.*20C>T) c.*131C>T (n.*131C>T) | dbSNP gnomAD v4 |
| 19 | g.5691642C>A | CA2587405007 | RPL36 | c.*21C>A (n.*21C>A) c.*132C>A (n.*132C>A) | gnomAD v4 |
| 19 | g.5691642C= | CA2320058077 | RPL36 | c.*21C= (n.*21C=) c.*132C= (n.*132C=) | |
| 19 | g.5691642C>G | CA9113868 | RPL36 | c.*21C>G (n.*21C>G) c.*132C>G (n.*132C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691642C>T | CA2320058078 | RPL36 | c.*21C>T (n.*21C>T) c.*132C>T (n.*132C>T) | dbSNP |
| 19 | g.5691643T>C | CA2576584460 | RPL36 | c.*22T>C (n.*22T>C) c.*133T>C (n.*133T>C) | gnomAD v4 |
| 19 | g.5691643T>G | CA2320058080 | RPL36 | c.*22T>G (n.*22T>G) c.*133T>G (n.*133T>G) | dbSNP gnomAD v4 |
| 19 | g.5691643T= | CA2320058079 | RPL36 | c.*22T= (n.*22T=) c.*133T= (n.*133T=) | |
| 19 | g.5691644G>A | CA9113869 | RPL36 | c.*23G>A (n.*23G>A) c.*134G>A (n.*134G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691644G>C | CA2576584461 | RPL36 | c.*23G>C (n.*23G>C) c.*134G>C (n.*134G>C) | |
| 19 | g.5691644G= | CA2320058081 | RPL36 | c.*23G= (n.*23G=) c.*134G= (n.*134G=) | |
| 19 | g.5691644_5691648delinsGAAAT | CA2320058082 | RPL36 | c.*23_*27delinsGAAAT (n.*23_*27delinsGAAAT) c.*134_*138delinsGAAAT (n.*134_*138delinsGAAAT) | |
| 19 | g.5691645A>C | CA2587405008 | RPL36 | c.*24A>C (n.*24A>C) c.*135A>C (n.*135A>C) | gnomAD v4 |
| 19 | g.5691645A>G | CA2587405009 | RPL36 | c.*24A>G (n.*24A>G) c.*135A>G (n.*135A>G) | gnomAD v4 |
| 19 | g.5691648_5691651del | CA883867414 | RPL36 | c.*27_*30del (n.*27_*30del) c.*138_*141del (n.*138_*141del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691648T>C | CA2587405010 | RPL36 | c.*27T>C (n.*27T>C) c.*138T>C (n.*138T>C) | gnomAD v4 |
| 19 | g.5691648_5691652delinsTAAAG | CA2320058083 | RPL36 | c.*27_*31delinsTAAAG (n.*27_*31delinsTAAAG) c.*138_*142delinsTAAAG (n.*138_*142delinsTAAAG) | |
| 19 | g.5691649A>G | CA2587405012 | RPL36 | c.*28A>G (n.*28A>G) c.*139A>G (n.*139A>G) | gnomAD v4 |
| 19 | g.5691651del | CA2587405011 | RPL36 | c.*30del (n.*30del) c.*141del (n.*141del) | gnomAD v4 |
| 19 | g.5691649_5691652delinsAAAG | CA2320058084 | RPL36 | c.*28_*31delinsAAAG (n.*28_*31delinsAAAG) c.*139_*142delinsAAAG (n.*139_*142delinsAAAG) | |
| 19 | g.5691651_5691654del | CA631718746 | RPL36 | c.*30_*33del (n.*30_*33del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691652_5691654del | CA9113870 | RPL36 | c.*31_*33del (n.*31_*33del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691651A= | CA2320058085 | RPL36 | c.*30A= (n.*30A=) c.*141A= (n.*141A=) | |
| 19 | g.5691651A>G | CA9113871 | RPL36 | c.*30A>G (n.*30A>G) c.*141A>G (n.*141A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691652G>A | CA631718748 | RPL36 | c.*31G>A (n.*31G>A) c.*142G>A (n.*142G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691652G>C | CA2576584462 | RPL36 | c.*31G>C (n.*31G>C) c.*142G>C (n.*142G>C) | gnomAD v4 |
| 19 | g.5691652G= | CA2320058086 | RPL36 | c.*31G= (n.*31G=) c.*142G= (n.*142G=) | |
| 19 | g.5691652G>T | CA631718747 | RPL36 | c.*31G>T (n.*31G>T) c.*142G>T (n.*142G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.5691652_5691653insGCGCC | CA2587405013 | RPL36 | c.*31_*32insGCGCC (n.*31_*32insGCGCC) c.*142_*143insGCGCC (n.*142_*143insGCGCC) | gnomAD v4 |
| 19 | g.5691654A>G | CA2576584463 | RPL36 | c.*33A>G (n.*33A>G) | |
| 19 | g.5691654A>T | CA2587405014 | RPL36 | c.*33A>T (n.*33A>T) | gnomAD v4 |
| 19 | g.5691654_5691655insGAGGAAG | CA2587405015 | RPL36 | c.*33_*34insGAGGAAG (n.*33_*34insGAGGAAG) | gnomAD v4 |
| 19 | g.5691655C>A | CA2813410201 | RPL36 | c.*34C>A (n.*34C>A) | |
| 19 | g.5691655C= | CA2320058087 | RPL36 | c.*34C= (n.*34C=) | |
| 19 | g.5691655C>G | CA883867427 | RPL36 | c.*34C>G (n.*34C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691655C>T | CA9113872 | RPL36 | c.*34C>T (n.*34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691655_5691656insGGGAGG | CA2587405016 | RPL36 | c.*34_*35insGGGAGG (n.*34_*35insGGGAGG) | gnomAD v4 |
| 19 | g.5691656A>G | CA2587405017 | RPL36 | c.*35A>G (n.*35A>G) | gnomAD v4 |
| 19 | g.5691657G>A | CA631718749 | RPL36 | c.*36G>A (n.*36G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691657G= | CA2320058088 | RPL36 | c.*36G= (n.*36G=) | |
| 19 | g.5691657_5691663dup | CA2576584464 | RPL36 | c.*36_*42dup (n.*36_*42dup) | gnomAD v4 |
| 19 | g.5691658C>A | CA2587405018 | RPL36 | c.*37C>A (n.*37C>A) | gnomAD v4 |
| 19 | g.5691658C= | CA2320058089 | RPL36 | c.*37C= (n.*37C=) | |
| 19 | g.5691658C>T | CA631718750 | RPL36 | c.*37C>T (n.*37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691658_5691664del | CA2576584465 | RPL36 | c.*37_*43del (n.*37_*43del) | |
| 19 | g.5691659T>C | CA2576584466 | RPL36 | c.*38T>C (n.*38T>C) | gnomAD v4 |
| 19 | g.5691661G>A | CA2587405019 | RPL36 | c.*40G>A (n.*40G>A) | gnomAD v4 |
| 19 | g.5691662A= | CA2320058090 | RPL36 | c.*41A= (n.*41A=) | |
| 19 | g.5691662A>T | CA631718751 | RPL36 | c.*41A>T (n.*41A>T) | dbSNP gnomAD v2 gnomAD v4 |