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 |
|---|---|---|---|---|---|
| 20 | g.761000C>A | CA1014677280 | SLC52A3 | c.*650G>T (n.*650G>T) c.930G>T (p.Ser310=) c.*26G>T (n.*26G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761000C= | CA2345348023 | SLC52A3 | c.*650G= (n.*650G=) c.930G= (p.Ser310=) c.*26G= (n.*26G=) | |
| 20 | g.761000C>T | CA2651546419 | SLC52A3 | c.*650G>A (n.*650G>A) c.930G>A (p.Ser310=) c.*26G>A (n.*26G>A) | gnomAD v4 |
| 20 | g.761001G>A | CA2577315052 | SLC52A3 | c.*649C>T (n.*649C>T) c.929C>T (p.Ser310Leu) c.*25C>T (n.*25C>T) | gnomAD v4 |
| 20 | g.761001G>C | CA634326136 | SLC52A3 | c.*649C>G (n.*649C>G) c.929C>G (p.Ser310Trp) c.*25C>G (n.*25C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761001G= | CA2345348024 | SLC52A3 | c.*649C= (n.*649C=) c.929C= (p.Ser310=) c.*25C= (n.*25C=) | |
| 20 | g.761001G>T | CA2577315053 | SLC52A3 | c.*649C>A (n.*649C>A) c.929C>A (p.Ser310Ter) c.*25C>A (n.*25C>A) | gnomAD v4 |
| 20 | g.761002A= | CA2345348025 | SLC52A3 | c.*648T= (n.*648T=) c.928T= (p.Ser310=) c.*24T= (n.*24T=) | |
| 20 | g.761002A>G | CA2345348026 | SLC52A3 | c.*648T>C (n.*648T>C) c.928T>C (p.Ser310Pro) c.*24T>C (n.*24T>C) | dbSNP |
| 20 | g.761004G>T | CA2651546421 | SLC52A3 | c.*646C>A (n.*646C>A) c.926C>A (p.Pro309Gln) c.*22C>A (n.*22C>A) | gnomAD v4 |
| 20 | g.761008del | CA2651546420 | SLC52A3 | c.*646del (n.*646del) c.926del (p.Pro309HisfsTer26) c.*22del (n.*22del) | gnomAD v4 |
| 20 | g.761005G>A | CA1014677286 | SLC52A3 | c.*645C>T (n.*645C>T) c.925C>T (p.Pro309Ser) c.*21C>T (n.*21C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761005G= | CA2345348027 | SLC52A3 | c.*645C= (n.*645C=) c.925C= (p.Pro309=) c.*21C= (n.*21C=) | |
| 20 | g.761005G>T | CA2651546422 | SLC52A3 | c.*645C>A (n.*645C>A) c.925C>A (p.Pro309Thr) c.*21C>A (n.*21C>A) | gnomAD v4 |
| 20 | g.761006G>A | CA2345348029 | SLC52A3 | c.*644C>T (n.*644C>T) c.924C>T (p.Pro308=) c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
| 20 | g.761006G= | CA2345348028 | SLC52A3 | c.*644C= (n.*644C=) c.924C= (p.Pro308=) c.*20C= (n.*20C=) | |
| 20 | g.761006G>T | CA2651546423 | SLC52A3 | c.*644C>A (n.*644C>A) c.924C>A (p.Pro308=) c.*20C>A (n.*20C>A) | gnomAD v4 |
| 20 | g.761007G>A | CA2651546424 | SLC52A3 | c.*643C>T (n.*643C>T) c.923C>T (p.Pro308Leu) c.*19C>T (n.*19C>T) | gnomAD v4 |
| 20 | g.761007G= | CA2345348030 | SLC52A3 | c.*643C= (n.*643C=) c.923C= (p.Pro308=) c.*19C= (n.*19C=) | |
| 20 | g.761007G>T | CA634326137 | SLC52A3 | c.*643C>A (n.*643C>A) c.923C>A (p.Pro308His) c.*19C>A (n.*19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761007_761008insA | CA2651546425 | SLC52A3 | c.*642_*643insT (n.*642_*643insT) c.922_923insT (p.Pro308LeufsTer29) c.*18_*19insT (n.*18_*19insT) | gnomAD v4 |
| 20 | g.761008G>A | CA310673882 | SLC52A3 | c.*642C>T (n.*642C>T) c.922C>T (p.Pro308Ser) c.*18C>T (n.*18C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761008G= | CA2345348032 | SLC52A3 | c.*642C= (n.*642C=) c.922C= (p.Pro308=) c.*18C= (n.*18C=) | |
| 20 | g.761008G>T | CA2651546426 | SLC52A3 | c.*642C>A (n.*642C>A) c.922C>A (p.Pro308Thr) c.*18C>A (n.*18C>A) | gnomAD v4 |
| 20 | g.761008_761009delinsGC | CA2345348031 | SLC52A3 | c.*641_*642delinsGC (n.*641_*642delinsGC) c.921_922delinsGC (p.Pro307=) c.*17_*18delinsGC (n.*17_*18delinsGC) | |
| 20 | g.761009del | CA9724496 | SLC52A3 | c.*641del (n.*641del) c.921del (p.Pro309HisfsTer26) c.*17del (n.*17del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761009C>A | CA2651546427 | SLC52A3 | c.*641G>T (n.*641G>T) c.921G>T (p.Pro307=) c.*17G>T (n.*17G>T) | gnomAD v4 |
| 20 | g.761009C= | CA2345348033 | SLC52A3 | c.*641G= (n.*641G=) c.921G= (p.Pro307=) c.*17G= (n.*17G=) | |
| 20 | g.761009C>T | CA310673887 | SLC52A3 | c.*641G>A (n.*641G>A) c.921G>A (p.Pro307=) c.*17G>A (n.*17G>A) | dbSNP gnomAD v4 |
| 20 | g.761009_761010delinsCG | CA2497029948 | SLC52A3 | c.*640_*641delinsCG (n.*640_*641delinsCG) c.920_921delinsCG (p.Pro307=) c.*16_*17delinsCG (n.*16_*17delinsCG) | |
| 20 | g.761009_761011delinsCGG | CA2345348034 | SLC52A3 | c.*639_*641delinsCCG (n.*639_*641delinsCCG) c.919_921delinsCCG (p.Pro307=) c.*15_*17delinsCCG (n.*15_*17delinsCCG) | |
| 20 | g.761010G>A | CA9724499 | SLC52A3 | c.*640C>T (n.*640C>T) c.920C>T (p.Pro307Leu) c.*16C>T (n.*16C>T) | dbSNP ExAC gnomAD v4 |
| 20 | g.761010G>C | CA9724498 | SLC52A3 | c.*640C>G (n.*640C>G) c.920C>G (p.Pro307Arg) c.*16C>G (n.*16C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761010G= | CA2345348036 | SLC52A3 | c.*640C= (n.*640C=) c.920C= (p.Pro307=) c.*16C= (n.*16C=) | |
| 20 | g.761010G>T | CA634326138 | SLC52A3 | c.*640C>A (n.*640C>A) c.920C>A (p.Pro307Gln) c.*16C>A (n.*16C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761013del | CA9724497 | SLC52A3 | c.*640del (n.*640del) c.920del (p.Pro307ArgfsTer28) c.*16del (n.*16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.761012_761013del | CA2345348035 | SLC52A3 | c.*639_*640del (n.*639_*640del) c.919_920del (p.Pro307AlafsTer29) c.*15_*16del (n.*15_*16del) | dbSNP |
| 20 | g.761011G>A | CA310673901 | SLC52A3 | c.*639C>T (n.*639C>T) c.919C>T (p.Pro307Ser) c.*15C>T (n.*15C>T) | dbSNP gnomAD v4 |
| 20 | g.761011G= | CA2345348037 | SLC52A3 | c.*639C= (n.*639C=) c.919C= (p.Pro307=) c.*15C= (n.*15C=) | |
| 20 | g.761011G>T | CA634326139 | SLC52A3 | c.*639C>A (n.*639C>A) c.919C>A (p.Pro307Thr) c.*15C>A (n.*15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761012G>A | CA310673908 | SLC52A3 | c.*638C>T (n.*638C>T) c.918C>T (p.Thr306=) c.*14C>T (n.*14C>T) | dbSNP gnomAD v2 |
| 20 | g.761012G= | CA2345348038 | SLC52A3 | c.*638C= (n.*638C=) c.918C= (p.Thr306=) c.*14C= (n.*14C=) | |
| 20 | g.761013G>A | CA9724500 | SLC52A3 | c.*637C>T (n.*637C>T) c.917C>T (p.Thr306Ile) c.*13C>T (n.*13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761013G= | CA2345348040 | SLC52A3 | c.*637C= (n.*637C=) c.917C= (p.Thr306=) c.*13C= (n.*13C=) | |
| 20 | g.761013G>T | CA9724501 | SLC52A3 | c.*637C>A (n.*637C>A) c.917C>A (p.Thr306Asn) c.*13C>A (n.*13C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761013_761014delinsGT | CA2345348039 | SLC52A3 | c.*636_*637delinsAC (n.*636_*637delinsAC) c.916_917delinsAC (p.Thr306=) c.*12_*13delinsAC (n.*12_*13delinsAC) | |
| 20 | g.761014del | CA310673913 | SLC52A3 | c.*636del (n.*636del) c.916del (p.Thr306ProfsTer29) c.*12del (n.*12del) | dbSNP |
| 20 | g.761014T>C | CA9724502 | SLC52A3 | c.*636A>G (n.*636A>G) c.916A>G (p.Thr306Ala) c.*12A>G (n.*12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761014T= | CA2345348041 | SLC52A3 | c.*636A= (n.*636A=) c.916A= (p.Thr306=) c.*12A= (n.*12A=) | |
| 20 | g.761015C>T | CA2651546428 | SLC52A3 | c.*635G>A (n.*635G>A) c.915G>A (p.Pro305=) c.*11G>A (n.*11G>A) | gnomAD v4 |
| 20 | g.761016G>A | CA634326140 | SLC52A3 | c.*634C>T (n.*634C>T) c.914C>T (p.Pro305Leu) c.*10C>T (n.*10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761016G= | CA2345348042 | SLC52A3 | c.*634C= (n.*634C=) c.914C= (p.Pro305=) c.*10C= (n.*10C=) | |
| 20 | g.761016G>T | CA2651546429 | SLC52A3 | c.*634C>A (n.*634C>A) c.914C>A (p.Pro305Gln) c.*10C>A (n.*10C>A) | gnomAD v4 |
| 20 | g.761017G>A | CA2651546430 | SLC52A3 | c.*633C>T (n.*633C>T) c.913C>T (p.Pro305Ser) c.*9C>T (n.*9C>T) | gnomAD v4 |
| 20 | g.761018C>A | CA2577315054 | SLC52A3 | c.*632G>T (n.*632G>T) c.912G>T (p.Pro304=) c.*8G>T (n.*8G>T) | gnomAD v4 |
| 20 | g.761018C= | CA2345348043 | SLC52A3 | c.*632G= (n.*632G=) c.912G= (p.Pro304=) c.*8G= (n.*8G=) | |
| 20 | g.761018C>T | CA746663290 | SLC52A3 | c.*632G>A (n.*632G>A) c.912G>A (p.Pro304=) c.*8G>A (n.*8G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761019G>C | CA2651546431 | SLC52A3 | c.*631C>G (n.*631C>G) c.911C>G (p.Pro304Arg) c.*7C>G (n.*7C>G) | gnomAD v4 |
| 20 | g.761019G>T | CA2651546432 | SLC52A3 | c.*631C>A (n.*631C>A) c.911C>A (p.Pro304Gln) c.*7C>A (n.*7C>A) | gnomAD v4 |
| 20 | g.761020G>A | CA2651546433 | SLC52A3 | c.*630C>T (n.*630C>T) c.910C>T (p.Pro304Ser) c.*6C>T (n.*6C>T) | gnomAD v4 |
| 20 | g.761021C= | CA2345348044 | SLC52A3 | c.*629G= (n.*629G=) c.909G= (p.Arg303=) c.*5G= (n.*5G=) | |
| 20 | g.761021C>T | CA634326141 | SLC52A3 | c.*629G>A (n.*629G>A) c.909G>A (p.Arg303=) c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761023T>G | CA2345348046 | SLC52A3 | c.*627A>C (n.*627A>C) c.907A>C (p.Arg303=) c.*3A>C (n.*3A>C) | dbSNP |
| 20 | g.761023T= | CA2345348045 | SLC52A3 | c.*627A= (n.*627A=) c.907A= (p.Arg303=) c.*3A= (n.*3A=) | |
| 20 | g.761024G>A | CA310673915 | SLC52A3 | c.*626C>T (n.*626C>T) c.906C>T (p.Gly302=) c.*2C>T (n.*2C>T) n.957C>T | dbSNP gnomAD v4 |
| 20 | g.761024G>C | CA2651546434 | SLC52A3 | c.*626C>G (n.*626C>G) c.906C>G (p.Gly302=) c.*2C>G (n.*2C>G) n.957C>G | gnomAD v4 |
| 20 | g.761024G= | CA2345348047 | SLC52A3 | c.*626C= (n.*626C=) c.906C= (p.Gly302=) c.*2C= (n.*2C=) n.957C= | |
| 20 | g.761024G>T | CA2651546435 | SLC52A3 | c.*626C>A (n.*626C>A) c.906C>A (p.Gly302=) c.*2C>A (n.*2C>A) n.957C>A | gnomAD v4 |
| 20 | g.761024_761028delinsGCCTA | CA2345348048 | SLC52A3 | c.*622_*626delinsTAGGC (n.*622_*626delinsTAGGC) c.902_906delinsTAGGC (p.Leu301=) c.1408_*2delinsTAGGC (n.[c.1408_*2delinsTAGGC;Ter470=]) n.953_957delinsTAGGC | |
| 20 | g.761025C>A | CA2651546436 | SLC52A3 | c.*625G>T (n.*625G>T) c.905G>T (p.Gly302Val) c.*1G>T (n.*1G>T) n.956G>T | gnomAD v4 |
| 20 | g.761025C= | CA2345348050 | SLC52A3 | c.*625G= (n.*625G=) c.905G= (p.Gly302=) c.*1G= (n.*1G=) n.956G= | |
| 20 | g.761025C>T | CA634326142 | SLC52A3 | c.*625G>A (n.*625G>A) c.905G>A (p.Gly302Asp) c.*1G>A (n.*1G>A) n.956G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761026del | CA2577315055 | SLC52A3 | c.*625del (n.*625del) c.905del (p.Gly302AlafsTer?) c.*1del (n.*1del) n.956del | |
| 20 | g.761025_761028del | CA2345348049 | SLC52A3 | c.*622_*625del (n.*622_*625del) c.902_905del (p.Leu301ProfsTer?) c.1408_*1del (n.[c.1408_*1del;Ter470GlnextTer?]) n.953_956del | dbSNP |
| 20 | g.761026C>A | CA407961703 | SLC52A3 | c.*624G>T (n.*624G>T) c.904G>T (p.Gly302Cys) c.1410G>T (p.Ter470Tyr) n.955G>T | gnomAD v4 |
| 20 | g.761026C>G | CA407961704 | SLC52A3 | c.*624G>C (n.*624G>C) c.904G>C (p.Gly302Arg) c.1410G>C (p.Ter470Tyr) n.955G>C | |
| 20 | g.761026C>T | CA509341279 | SLC52A3 | c.*624G>A (n.*624G>A) c.904G>A (p.Gly302Ser) c.1410G>A (p.Ter470=) n.955G>A | |
| 20 | g.761027T>A | CA407961705 | SLC52A3 | c.*623A>T (n.*623A>T) c.903A>T (p.Leu301=) c.1409A>T (p.Ter470Leu) n.954A>T | |
| 20 | g.761027T>C | CA407961706 | SLC52A3 | c.*623A>G (n.*623A>G) c.903A>G (p.Leu301=) c.1409A>G (p.Ter470Trp) n.954A>G | |
| 20 | g.761027T>G | CA407961707 | SLC52A3 | c.*623A>C (n.*623A>C) c.903A>C (p.Leu301=) c.1409A>C (p.Ter470Ser) n.954A>C | |
| 20 | g.761028A>C | CA407961708 | SLC52A3 | c.*622T>G (n.*622T>G) c.902T>G (p.Leu301Arg) c.1408T>G (p.Ter470Glu) n.953T>G | |
| 20 | g.761028A>G | CA407961709 | SLC52A3 | c.*622T>C (n.*622T>C) c.902T>C (p.Leu301Pro) c.1408T>C (p.Ter470Gln) n.953T>C | |
| 20 | g.761028A>T | CA407961710 | SLC52A3 | c.*622T>A (n.*622T>A) c.902T>A (p.Leu301Gln) c.1408T>A (p.Ter470Lys) n.953T>A | |
| 20 | g.761029G>A | CA509341282 | SLC52A3 | c.*621C>T (n.*621C>T) c.901C>T (p.Leu301=) c.1407C>T (p.Ala469=) n.952C>T | dbSNP |
| 20 | g.761029G>C | CA509341281 | SLC52A3 | c.*621C>G (n.*621C>G) c.901C>G (p.Leu301Val) c.1407C>G (p.Ala469=) n.952C>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.761029G= | CA2345348051 | SLC52A3 | c.*621C= (n.*621C=) c.901C= (p.Leu301=) c.1407C= (p.Ala469=) n.952C= | |
| 20 | g.761029G>T | CA509341280 | SLC52A3 | c.*621C>A (n.*621C>A) c.901C>A (p.Leu301Ile) c.1407C>A (p.Ala469=) n.952C>A | gnomAD v4 |
| 20 | g.761030G>A | CA407961713 | SLC52A3 | c.*620C>T (n.*620C>T) c.900C>T (p.Ser300=) c.1406C>T (p.Ala469Val) n.951C>T | gnomAD v4 |
| 20 | g.761030G>C | CA407961712 | SLC52A3 | c.*620C>G (n.*620C>G) c.900C>G (p.Ser300Arg) c.1406C>G (p.Ala469Gly) n.951C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761030G= | CA2345348052 | SLC52A3 | c.*620C= (n.*620C=) c.900C= (p.Ser300=) c.1406C= (p.Ala469=) n.951C= | |
| 20 | g.761030G>T | CA407961711 | SLC52A3 | c.*620C>A (n.*620C>A) c.900C>A (p.Ser300Arg) c.1406C>A (p.Ala469Asp) n.951C>A | dbSNP |
| 20 | g.761031C>A | CA407961714 | SLC52A3 | c.*619G>T (n.*619G>T) c.899G>T (p.Ser300Ile) c.1405G>T (p.Ala469Ser) n.950G>T | |
| 20 | g.761031C= | CA2345348053 | SLC52A3 | c.*619G= (n.*619G=) c.899G= (p.Ser300=) c.1405G= (p.Ala469=) n.950G= | |
| 20 | g.761031C>G | CA407961715 | SLC52A3 | c.*619G>C (n.*619G>C) c.899G>C (p.Ser300Thr) c.1405G>C (p.Ala469Pro) n.950G>C | gnomAD v4 |
| 20 | g.761031C>T | CA407961716 | SLC52A3 | c.*619G>A (n.*619G>A) c.899G>A (p.Ser300Asn) c.1405G>A (p.Ala469Thr) n.950G>A | dbSNP gnomAD v4 |
| 20 | g.761032T>A | CA509341283 | SLC52A3 | c.*618A>T (n.*618A>T) c.898A>T (p.Ser300Cys) c.1404A>T (p.Pro468=) n.949A>T | |
| 20 | g.761032T>C | CA509341284 | SLC52A3 | c.*618A>G (n.*618A>G) c.898A>G (p.Ser300Gly) c.1404A>G (p.Pro468=) n.949A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761032T>G | CA509341285 | SLC52A3 | c.*618A>C (n.*618A>C) c.898A>C (p.Ser300Arg) c.1404A>C (p.Pro468=) n.949A>C | dbSNP |
| 20 | g.761032T= | CA2345348054 | SLC52A3 | c.*618A= (n.*618A=) c.898A= (p.Ser300=) c.1404A= (p.Pro468=) n.949A= | |
| 20 | g.761033G>A | CA407961717 | SLC52A3 | c.*617C>T (n.*617C>T) c.897C>T (p.Ser299=) c.1403C>T (p.Pro468Leu) n.948C>T | |
| 20 | g.761033G>C | CA407961718 | SLC52A3 | c.*617C>G (n.*617C>G) c.897C>G (p.Ser299=) c.1403C>G (p.Pro468Arg) n.948C>G | |
| 20 | g.761033G>T | CA407961719 | SLC52A3 | c.*617C>A (n.*617C>A) c.897C>A (p.Ser299=) c.1403C>A (p.Pro468Gln) n.948C>A | |
| 20 | g.761053_761054insGCAGGACAGTGCAGATTGCAGAAG | CA915952285 | SLC52A3 | c.*617_*618insTGCCTTCTGCAATCTGCACTGTCC (n.*617_*618insTGCCTTCTGCAATCTGCACTGTCC) c.897_898insTGCCTTCTGCAATCTGCACTGTCC (p.Ser299_Ser300insCysLeuLeuGlnSerAlaLeuSer) c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Pro468_Ala469insAlaPheCysAsnLeuHisCysPro) n.948_949insTGCCTTCTGCAATCTGCACTGTCC | ClinVar dbSNP |
| 20 | g.761034G>A | CA407961722 | SLC52A3 | c.*616C>T (n.*616C>T) c.896C>T (p.Ser299Phe) c.1402C>T (p.Pro468Ser) n.947C>T | |
| 20 | g.761034G>C | CA407961720 | SLC52A3 | c.*616C>G (n.*616C>G) c.896C>G (p.Ser299Cys) c.1402C>G (p.Pro468Ala) n.947C>G | |
| 20 | g.761034G>T | CA407961721 | SLC52A3 | c.*616C>A (n.*616C>A) c.896C>A (p.Ser299Tyr) c.1402C>A (p.Pro468Thr) n.947C>A | |
| 20 | g.761035A>C | CA407961723 | SLC52A3 | c.*615T>G (n.*615T>G) c.895T>G (p.Ser299Ala) c.1401T>G (p.Cys467Trp) n.946T>G | |
| 20 | g.761035A>G | CA509341286 | SLC52A3 | c.*615T>C (n.*615T>C) c.895T>C (p.Ser299Pro) c.1401T>C (p.Cys467=) n.946T>C | gnomAD v4 |
| 20 | g.761035A>T | CA407961724 | SLC52A3 | c.*615T>A (n.*615T>A) c.895T>A (p.Ser299Thr) c.1401T>A (p.Cys467Ter) n.946T>A | |
| 20 | g.761036C>A | CA407961725 | SLC52A3 | c.*614G>T (n.*614G>T) c.894G>T (p.Leu298=) c.1400G>T (p.Cys467Phe) n.945G>T | gnomAD v4 |
| 20 | g.761036C= | CA2345348055 | SLC52A3 | c.*614G= (n.*614G=) c.894G= (p.Leu298=) c.1400G= (p.Cys467=) n.945G= | |
| 20 | g.761036C>G | CA407961726 | SLC52A3 | c.*614G>C (n.*614G>C) c.894G>C (p.Leu298=) c.1400G>C (p.Cys467Ser) n.945G>C | gnomAD v4 |
| 20 | g.761036C>T | CA407961727 | SLC52A3 | c.*614G>A (n.*614G>A) c.894G>A (p.Leu298=) c.1400G>A (p.Cys467Tyr) n.945G>A | gnomAD v4 |
| 20 | g.761036_761037insT | CA2345348056 | SLC52A3 | c.*613_*614insA (n.*613_*614insA) c.893_894insA (p.Ser299ValfsTer?) c.1399_1400insA (p.Cys467Ter) n.944_945insA | dbSNP |
| 20 | g.761037A>C | CA407961728 | SLC52A3 | c.*613T>G (n.*613T>G) c.893T>G (p.Leu298Arg) c.1399T>G (p.Cys467Gly) n.944T>G | |
| 20 | g.761037A>G | CA407961730 | SLC52A3 | c.*613T>C (n.*613T>C) c.893T>C (p.Leu298Pro) c.1399T>C (p.Cys467Arg) n.944T>C | |
| 20 | g.761037A>T | CA407961729 | SLC52A3 | c.*613T>A (n.*613T>A) c.893T>A (p.Leu298Gln) c.1399T>A (p.Cys467Ser) n.944T>A | dbSNP |
| 20 | g.761038G>A | CA509341287 | SLC52A3 | c.*612C>T (n.*612C>T) c.892C>T (p.Leu298=) c.1398C>T (p.His466=) n.943C>T | gnomAD v4 |
| 20 | g.761038G>C | CA407961731 | SLC52A3 | c.*612C>G (n.*612C>G) c.892C>G (p.Leu298Val) c.1398C>G (p.His466Gln) n.943C>G | gnomAD v4 |
| 20 | g.761038G>T | CA407961732 | SLC52A3 | c.*612C>A (n.*612C>A) c.892C>A (p.Leu298Met) c.1398C>A (p.His466Gln) n.943C>A | gnomAD v4 |
| 20 | g.761039T>A | CA407961733 | SLC52A3 | c.*611A>T (n.*611A>T) c.891A>T (p.Ala297=) c.1397A>T (p.His466Leu) n.942A>T | |
| 20 | g.761039T>C | CA9724503 | SLC52A3 | c.*611A>G (n.*611A>G) c.891A>G (p.Ala297=) c.1397A>G (p.His466Arg) n.942A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761039T>G | CA407961734 | SLC52A3 | c.*611A>C (n.*611A>C) c.891A>C (p.Ala297=) c.1397A>C (p.His466Pro) n.942A>C | |
| 20 | g.761039T= | CA2345348057 | SLC52A3 | c.*611A= (n.*611A=) c.891A= (p.Ala297=) c.1397A= (p.His466=) n.942A= | |
| 20 | g.761040G>A | CA9724504 | SLC52A3 | c.*610C>T (n.*610C>T) c.890C>T (p.Ala297Val) c.1396C>T (p.His466Tyr) n.941C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761040G>C | CA407961735 | SLC52A3 | c.*610C>G (n.*610C>G) c.890C>G (p.Ala297Gly) c.1396C>G (p.His466Asp) n.941C>G | |
| 20 | g.761040G= | CA2345348058 | SLC52A3 | c.*610C= (n.*610C=) c.890C= (p.Ala297=) c.1396C= (p.His466=) n.941C= | |
| 20 | g.761040G>T | CA407961736 | SLC52A3 | c.*610C>A (n.*610C>A) c.890C>A (p.Ala297Glu) c.1396C>A (p.His466Asn) n.941C>A | |
| 20 | g.761041C>A | CA509341288 | SLC52A3 | c.*609G>T (n.*609G>T) c.889G>T (p.Ala297Ser) c.1395G>T (p.Leu465=) n.940G>T | |
| 20 | g.761041C>G | CA509341289 | SLC52A3 | c.*609G>C (n.*609G>C) c.889G>C (p.Ala297Pro) c.1395G>C (p.Leu465=) n.940G>C | |
| 20 | g.761041C>T | CA509341290 | SLC52A3 | c.*609G>A (n.*609G>A) c.889G>A (p.Ala297Thr) c.1395G>A (p.Leu465=) n.940G>A | |
| 20 | g.761042A= | CA2345348059 | SLC52A3 | c.*608T= (n.*608T=) c.888T= (p.Ser296=) c.1394T= (p.Leu465=) n.939T= | |
| 20 | g.761042A>C | CA407961737 | SLC52A3 | c.*608T>G (n.*608T>G) c.888T>G (p.Ser296=) c.1394T>G (p.Leu465Arg) n.939T>G | |
| 20 | g.761042A>G | CA310673928 | SLC52A3 | c.*608T>C (n.*608T>C) c.888T>C (p.Ser296=) c.1394T>C (p.Leu465Pro) n.939T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761042A>T | CA407961738 | SLC52A3 | c.*608T>A (n.*608T>A) c.888T>A (p.Ser296=) c.1394T>A (p.Leu465Gln) n.939T>A | |
| 20 | g.761043G>A | CA509341291 | SLC52A3 | c.*607C>T (n.*607C>T) c.887C>T (p.Ser296Phe) c.1393C>T (p.Leu465=) n.938C>T | |
| 20 | g.761043G>C | CA407961740 | SLC52A3 | c.*607C>G (n.*607C>G) c.887C>G (p.Ser296Cys) c.1393C>G (p.Leu465Val) n.938C>G | COSMIC |
| 20 | g.761043G= | CA2345348060 | SLC52A3 | c.*607C= (n.*607C=) c.887C= (p.Ser296=) c.1393C= (p.Leu465=) n.938C= | |
| 20 | g.761043G>T | CA407961739 | SLC52A3 | c.*607C>A (n.*607C>A) c.887C>A (p.Ser296Tyr) c.1393C>A (p.Leu465Met) n.938C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761044A>C | CA407961741 | SLC52A3 | c.*606T>G (n.*606T>G) c.886T>G (p.Ser296Ala) c.1392T>G (p.Asn464Lys) n.937T>G | |
| 20 | g.761044A>G | CA509341292 | SLC52A3 | c.*606T>C (n.*606T>C) c.886T>C (p.Ser296Pro) c.1392T>C (p.Asn464=) n.937T>C | |
| 20 | g.761044A>T | CA407961742 | SLC52A3 | c.*606T>A (n.*606T>A) c.886T>A (p.Ser296Thr) c.1392T>A (p.Asn464Lys) n.937T>A | |
| 20 | g.761045T>A | CA407961743 | SLC52A3 | c.*605A>T (n.*605A>T) c.885A>T (p.Gln295His) c.1391A>T (p.Asn464Ile) n.936A>T | |
| 20 | g.761045T>C | CA407961744 | SLC52A3 | c.*605A>G (n.*605A>G) c.885A>G (p.Gln295=) c.1391A>G (p.Asn464Ser) n.936A>G | |
| 20 | g.761045T>G | CA407961745 | SLC52A3 | c.*605A>C (n.*605A>C) c.885A>C (p.Gln295His) c.1391A>C (p.Asn464Thr) n.936A>C | |
| 20 | g.761046T>A | CA407961746 | SLC52A3 | c.*604A>T (n.*604A>T) c.884A>T (p.Gln295Leu) c.1390A>T (p.Asn464Tyr) n.935A>T | |
| 20 | g.761046T>C | CA407961747 | SLC52A3 | c.*604A>G (n.*604A>G) c.884A>G (p.Gln295Arg) c.1390A>G (p.Asn464Asp) n.935A>G | |
| 20 | g.761046T>G | CA407961748 | SLC52A3 | c.*604A>C (n.*604A>C) c.884A>C (p.Gln295Pro) c.1390A>C (p.Asn464His) n.935A>C | |
| 20 | g.761047G>A | CA509341293 | SLC52A3 | c.*603C>T (n.*603C>T) c.883C>T (p.Gln295Ter) c.1389C>T (p.Cys463=) n.934C>T | |
| 20 | g.761047G>C | CA407961749 | SLC52A3 | c.*603C>G (n.*603C>G) c.883C>G (p.Gln295Glu) c.1389C>G (p.Cys463Trp) n.934C>G | |
| 20 | g.761047G>T | CA407961750 | SLC52A3 | c.*603C>A (n.*603C>A) c.883C>A (p.Gln295Lys) c.1389C>A (p.Cys463Ter) n.934C>A | |
| 20 | g.761048C>A | CA407961751 | SLC52A3 | c.*602G>T (n.*602G>T) c.882G>T (p.Leu294=) c.1388G>T (p.Cys463Phe) n.933G>T | gnomAD v4 |
| 20 | g.761048C>G | CA407961752 | SLC52A3 | c.*602G>C (n.*602G>C) c.882G>C (p.Leu294=) c.1388G>C (p.Cys463Ser) n.933G>C | |
| 20 | g.761048C>T | CA407961753 | SLC52A3 | c.*602G>A (n.*602G>A) c.882G>A (p.Leu294=) c.1388G>A (p.Cys463Tyr) n.933G>A | |
| 20 | g.761049A= | CA2345348061 | SLC52A3 | c.*601T= (n.*601T=) c.881T= (p.Leu294=) c.1387T= (p.Cys463=) n.932T= | |
| 20 | g.761049A>C | CA407961754 | SLC52A3 | c.*601T>G (n.*601T>G) c.881T>G (p.Leu294Arg) c.1387T>G (p.Cys463Gly) n.932T>G | dbSNP |
| 20 | g.761049A>G | CA407961755 | SLC52A3 | c.*601T>C (n.*601T>C) c.881T>C (p.Leu294Pro) c.1387T>C (p.Cys463Arg) n.932T>C | |
| 20 | g.761049A>T | CA407961756 | SLC52A3 | c.*601T>A (n.*601T>A) c.881T>A (p.Leu294Gln) c.1387T>A (p.Cys463Ser) n.932T>A | |
| 20 | g.761050G>A | CA509341294 | SLC52A3 | c.*600C>T (n.*600C>T) c.880C>T (p.Leu294=) c.1386C>T (p.Phe462=) n.931C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761050G>C | CA407961757 | SLC52A3 | c.*600C>G (n.*600C>G) c.880C>G (p.Leu294Val) c.1386C>G (p.Phe462Leu) n.931C>G | |
| 20 | g.761050G= | CA2345348062 | SLC52A3 | c.*600C= (n.*600C=) c.880C= (p.Leu294=) c.1386C= (p.Phe462=) n.931C= | |
| 20 | g.761050G>T | CA9724505 | SLC52A3 | c.*600C>A (n.*600C>A) c.880C>A (p.Leu294Met) c.1386C>A (p.Phe462Leu) n.931C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761051A>C | CA407961758 | SLC52A3 | c.*599T>G (n.*599T>G) c.879T>G (p.Leu293=) c.1385T>G (p.Phe462Cys) n.930T>G | |
| 20 | g.761051A>G | CA407961759 | SLC52A3 | c.*599T>C (n.*599T>C) c.879T>C (p.Leu293=) c.1385T>C (p.Phe462Ser) n.930T>C | gnomAD v4 |
| 20 | g.761051A>T | CA407961760 | SLC52A3 | c.*599T>A (n.*599T>A) c.879T>A (p.Leu293=) c.1385T>A (p.Phe462Tyr) n.930T>A | |
| 20 | g.761052A>C | CA407961761 | SLC52A3 | c.*598T>G (n.*598T>G) c.878T>G (p.Leu293Arg) c.1384T>G (p.Phe462Val) n.929T>G | |
| 20 | g.761052A>G | CA407961762 | SLC52A3 | c.*598T>C (n.*598T>C) c.878T>C (p.Leu293Pro) c.1384T>C (p.Phe462Leu) n.929T>C | gnomAD v4 |
| 20 | g.761052A>T | CA407961763 | SLC52A3 | c.*598T>A (n.*598T>A) c.878T>A (p.Leu293His) c.1384T>A (p.Phe462Ile) n.929T>A | |
| 20 | g.761053G>A | CA509341295 | SLC52A3 | c.*597C>T (n.*597C>T) c.877C>T (p.Leu293Phe) c.1383C>T (p.Asp461=) n.928C>T | |
| 20 | g.761053G>C | CA407961764 | SLC52A3 | c.*597C>G (n.*597C>G) c.877C>G (p.Leu293Val) c.1383C>G (p.Asp461Glu) n.928C>G | |
| 20 | g.761053G>T | CA407961765 | SLC52A3 | c.*597C>A (n.*597C>A) c.877C>A (p.Leu293Ile) c.1383C>A (p.Asp461Glu) n.928C>A | |
| 20 | g.761054T>A | CA407961766 | SLC52A3 | c.*596A>T (n.*596A>T) c.876A>T (p.Gly292=) c.1382A>T (p.Asp461Val) n.927A>T | |
| 20 | g.761054T>C | CA407961767 | SLC52A3 | c.*596A>G (n.*596A>G) c.876A>G (p.Gly292=) c.1382A>G (p.Asp461Gly) n.927A>G | |
| 20 | g.761054T>G | CA407961768 | SLC52A3 | c.*596A>C (n.*596A>C) c.876A>C (p.Gly292=) c.1382A>C (p.Asp461Ala) n.927A>C | |
| 20 | g.761054_761070delinsTCCGCGGACGAGAAGAG | CA2345348063 | SLC52A3 | c.*580_*596delinsCTCTTCTCGTCCGCGGA (n.*580_*596delinsCTCTTCTCGTCCGCGGA) c.860_876delinsCTCTTCTCGTCCGCGGA (p.Ala287=) c.1366_1382delinsCTCTTCTCGTCCGCGGA (p.Leu456=) n.911_927delinsCTCTTCTCGTCCGCGGA | |
| 20 | g.761055C>A | CA9724506 | SLC52A3 | c.*595G>T (n.*595G>T) c.875G>T (p.Gly292Val) c.1381G>T (p.Asp461Tyr) n.926G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761055C= | CA2345348064 | SLC52A3 | c.*595G= (n.*595G=) c.875G= (p.Gly292=) c.1381G= (p.Asp461=) n.926G= | |
| 20 | g.761055C>G | CA407961770 | SLC52A3 | c.*595G>C (n.*595G>C) c.875G>C (p.Gly292Ala) c.1381G>C (p.Asp461His) n.926G>C | |
| 20 | g.761055C>T | CA407961769 | SLC52A3 | c.*595G>A (n.*595G>A) c.875G>A (p.Gly292Glu) c.1381G>A (p.Asp461Asn) n.926G>A | |
| 20 | g.761059_761074del | CA634326143 | SLC52A3 | c.*580_*595del (n.*580_*595del) c.860_875del (p.Ala287AspfsTer10) c.1366_1381del (p.Leu456ThrfsTer?) n.911_926del | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761056C>A | CA509341296 | SLC52A3 | c.*594G>T (n.*594G>T) c.874G>T (p.Gly292Ter) c.1380G>T (p.Ala460=) n.925G>T | dbSNP |
| 20 | g.761056C>G | CA509341297 | SLC52A3 | c.*594G>C (n.*594G>C) c.874G>C (p.Gly292Arg) c.1380G>C (p.Ala460=) n.925G>C | ClinVar gnomAD v4 |
| 20 | g.761056C>T | CA509341298 | SLC52A3 | c.*594G>A (n.*594G>A) c.874G>A (p.Gly292Arg) c.1380G>A (p.Ala460=) n.925G>A | gnomAD v4 |
| 20 | g.761057G>A | CA407961771 | SLC52A3 | c.*593C>T (n.*593C>T) c.873C>T (p.Arg291=) c.1379C>T (p.Ala460Val) n.924C>T | dbSNP |
| 20 | g.761057G>C | CA407961772 | SLC52A3 | c.*593C>G (n.*593C>G) c.873C>G (p.Arg291=) c.1379C>G (p.Ala460Gly) n.924C>G | |
| 20 | g.761057G= | CA2345348065 | SLC52A3 | c.*593C= (n.*593C=) c.873C= (p.Arg291=) c.1379C= (p.Ala460=) n.924C= | |
| 20 | g.761057G>T | CA407961773 | SLC52A3 | c.*593C>A (n.*593C>A) c.873C>A (p.Arg291=) c.1379C>A (p.Ala460Glu) n.924C>A | |
| 20 | g.761058C>A | CA407961774 | SLC52A3 | c.*592G>T (n.*592G>T) c.872G>T (p.Arg291Leu) c.1378G>T (p.Ala460Ser) n.923G>T | |
| 20 | g.761058C= | CA2345348066 | SLC52A3 | c.*592G= (n.*592G=) c.872G= (p.Arg291=) c.1378G= (p.Ala460=) n.923G= | |
| 20 | g.761058C>G | CA407961775 | SLC52A3 | c.*592G>C (n.*592G>C) c.872G>C (p.Arg291Pro) c.1378G>C (p.Ala460Pro) n.923G>C | |
| 20 | g.761058C>T | CA407961776 | SLC52A3 | c.*592G>A (n.*592G>A) c.872G>A (p.Arg291His) c.1378G>A (p.Ala460Thr) n.923G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761059G>A | CA509341299 | SLC52A3 | c.*591C>T (n.*591C>T) c.871C>T (p.Arg291Cys) c.1377C>T (p.Ser459=) n.922C>T | gnomAD v4 |
| 20 | g.761059G>C | CA509341300 | SLC52A3 | c.*591C>G (n.*591C>G) c.871C>G (p.Arg291Gly) c.1377C>G (p.Ser459=) n.922C>G | |
| 20 | g.761059G>T | CA509341301 | SLC52A3 | c.*591C>A (n.*591C>A) c.871C>A (p.Arg291Ser) c.1377C>A (p.Ser459=) n.922C>A | |
| 20 | g.761060G>A | CA407961779 | SLC52A3 | c.*590C>T (n.*590C>T) c.870C>T (p.Val290=) c.1376C>T (p.Ser459Phe) n.921C>T | gnomAD v4 |
| 20 | g.761060G>C | CA407961777 | SLC52A3 | c.*590C>G (n.*590C>G) c.870C>G (p.Val290=) c.1376C>G (p.Ser459Cys) n.921C>G | |
| 20 | g.761060G>T | CA407961778 | SLC52A3 | c.*590C>A (n.*590C>A) c.870C>A (p.Val290=) c.1376C>A (p.Ser459Tyr) n.921C>A | |
| 20 | g.761062_761066del | CA2651546437 | SLC52A3 | c.*586_*590del (n.*586_*590del) c.866_870del (p.Leu289ProfsTer?) c.1372_1376del (p.Ser458ArgfsTer?) n.917_921del | gnomAD v4 |
| 20 | g.761061A= | CA2345348067 | SLC52A3 | c.*589T= (n.*589T=) c.869T= (p.Val290=) c.1375T= (p.Ser459=) n.920T= | |
| 20 | g.761061A>C | CA407961780 | SLC52A3 | c.*589T>G (n.*589T>G) c.869T>G (p.Val290Gly) c.1375T>G (p.Ser459Ala) n.920T>G | gnomAD v4 |
| 20 | g.761061A>G | CA9724507 | SLC52A3 | c.*589T>C (n.*589T>C) c.869T>C (p.Val290Ala) c.1375T>C (p.Ser459Pro) n.920T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761061A>T | CA407961781 | SLC52A3 | c.*589T>A (n.*589T>A) c.869T>A (p.Val290Asp) c.1375T>A (p.Ser459Thr) n.920T>A | gnomAD v4 |
| 20 | g.761062C>A | CA9724508 | SLC52A3 | c.*588G>T (n.*588G>T) c.868G>T (p.Val290Phe) c.1374G>T (p.Ser458=) n.919G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761062C= | CA2345348068 | SLC52A3 | c.*588G= (n.*588G=) c.868G= (p.Val290=) c.1374G= (p.Ser458=) n.919G= | |
| 20 | g.761062C>G | CA509341302 | SLC52A3 | c.*588G>C (n.*588G>C) c.868G>C (p.Val290Leu) c.1374G>C (p.Ser458=) n.919G>C | |
| 20 | g.761062C>T | CA9724509 | SLC52A3 | c.*588G>A (n.*588G>A) c.868G>A (p.Val290Ile) c.1374G>A (p.Ser458=) n.919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.761063G>A | CA407961782 | SLC52A3 | c.*587C>T (n.*587C>T) c.867C>T (p.Leu289=) c.1373C>T (p.Ser458Leu) n.918C>T | gnomAD v4 COSMIC |
| 20 | g.761063G>C | CA407961783 | SLC52A3 | c.*587C>G (n.*587C>G) c.867C>G (p.Leu289=) c.1373C>G (p.Ser458Trp) n.918C>G | |
| 20 | g.761063G= | CA2345348069 | SLC52A3 | c.*587C= (n.*587C=) c.867C= (p.Leu289=) c.1373C= (p.Ser458=) n.918C= | |
| 20 | g.761063G>T | CA9724510 | SLC52A3 | c.*587C>A (n.*587C>A) c.867C>A (p.Leu289=) c.1373C>A (p.Ser458Ter) n.918C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761064A= | CA2345348070 | SLC52A3 | c.*586T= (n.*586T=) c.866T= (p.Leu289=) c.1372T= (p.Ser458=) n.917T= | |
| 20 | g.761064A>C | CA407961784 | SLC52A3 | c.*586T>G (n.*586T>G) c.866T>G (p.Leu289Arg) c.1372T>G (p.Ser458Ala) n.917T>G | ClinVar gnomAD v4 |
| 20 | g.761064A>G | CA407961785 | SLC52A3 | c.*586T>C (n.*586T>C) c.866T>C (p.Leu289Pro) c.1372T>C (p.Ser458Pro) n.917T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761064A>T | CA407961786 | SLC52A3 | c.*586T>A (n.*586T>A) c.866T>A (p.Leu289His) c.1372T>A (p.Ser458Thr) n.917T>A | |
| 20 | g.761065G>A | CA509341303 | SLC52A3 | c.*585C>T (n.*585C>T) c.865C>T (p.Leu289Phe) c.1371C>T (p.Phe457=) n.916C>T | |
| 20 | g.761065G>C | CA346996 | SLC52A3 | c.*585C>G (n.*585C>G) c.865C>G (p.Leu289Val) c.1371C>G (p.Phe457Leu) n.916C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761065G= | CA2345348071 | SLC52A3 | c.*585C= (n.*585C=) c.865C= (p.Leu289=) c.1371C= (p.Phe457=) n.916C= | |
| 20 | g.761065G>T | CA407961787 | SLC52A3 | c.*585C>A (n.*585C>A) c.865C>A (p.Leu289Ile) c.1371C>A (p.Phe457Leu) n.916C>A | gnomAD v4 |
| 20 | g.761066A>C | CA407961788 | SLC52A3 | c.*584T>G (n.*584T>G) c.864T>G (p.Leu288=) c.1370T>G (p.Phe457Cys) n.915T>G | |
| 20 | g.761066A>G | CA407961789 | SLC52A3 | c.*584T>C (n.*584T>C) c.864T>C (p.Leu288=) c.1370T>C (p.Phe457Ser) n.915T>C | |
| 20 | g.761066A>T | CA407961790 | SLC52A3 | c.*584T>A (n.*584T>A) c.864T>A (p.Leu288=) c.1370T>A (p.Phe457Tyr) n.915T>A | |
| 20 | g.761067A= | CA2345348072 | SLC52A3 | c.*583T= (n.*583T=) c.863T= (p.Leu288=) c.1369T= (p.Phe457=) n.914T= | |
| 20 | g.761067A>C | CA407961791 | SLC52A3 | c.*583T>G (n.*583T>G) c.863T>G (p.Leu288Arg) c.1369T>G (p.Phe457Val) n.914T>G | |
| 20 | g.761067A>G | CA9724511 | SLC52A3 | c.*583T>C (n.*583T>C) c.863T>C (p.Leu288Pro) c.1369T>C (p.Phe457Leu) n.914T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761067A>T | CA407961792 | SLC52A3 | c.*583T>A (n.*583T>A) c.863T>A (p.Leu288His) c.1369T>A (p.Phe457Ile) n.914T>A | |
| 20 | g.761068G>A | CA509341304 | SLC52A3 | c.*582C>T (n.*582C>T) c.862C>T (p.Leu288Phe) c.1368C>T (p.Leu456=) n.913C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.761068G>C | CA509341305 | SLC52A3 | c.*582C>G (n.*582C>G) c.862C>G (p.Leu288Val) c.1368C>G (p.Leu456=) n.913C>G | |
| 20 | g.761068G= | CA2345348073 | SLC52A3 | c.*582C= (n.*582C=) c.862C= (p.Leu288=) c.1368C= (p.Leu456=) n.913C= | |
| 20 | g.761068G>T | CA509341306 | SLC52A3 | c.*582C>A (n.*582C>A) c.862C>A (p.Leu288Ile) c.1368C>A (p.Leu456=) n.913C>A | |
| 20 | g.761069A>C | CA407961795 | SLC52A3 | c.*581T>G (n.*581T>G) c.861T>G (p.Ala287=) c.1367T>G (p.Leu456Arg) n.912T>G | |
| 20 | g.761069A>G | CA407961794 | SLC52A3 | c.*581T>C (n.*581T>C) c.861T>C (p.Ala287=) c.1367T>C (p.Leu456Pro) n.912T>C | |
| 20 | g.761069A>T | CA407961793 | SLC52A3 | c.*581T>A (n.*581T>A) c.861T>A (p.Ala287=) c.1367T>A (p.Leu456His) n.912T>A | |
| 20 | g.761070G>A | CA407961796 | SLC52A3 | c.*580C>T (n.*580C>T) c.860C>T (p.Ala287Val) c.1366C>T (p.Leu456Phe) n.911C>T | gnomAD v4 |
| 20 | g.761070G>C | CA407961798 | SLC52A3 | c.*580C>G (n.*580C>G) c.860C>G (p.Ala287Gly) c.1366C>G (p.Leu456Val) n.911C>G | |
| 20 | g.761070G>T | CA407961797 | SLC52A3 | c.*580C>A (n.*580C>A) c.860C>A (p.Ala287Asp) c.1366C>A (p.Leu456Ile) n.911C>A | gnomAD v4 |
| 20 | g.761071C>A | CA509341307 | SLC52A3 | c.*579G>T (n.*579G>T) c.859G>T (p.Ala287Ser) c.1365G>T (p.Arg455=) n.910G>T | |
| 20 | g.761071C>G | CA509341308 | SLC52A3 | c.*579G>C (n.*579G>C) c.859G>C (p.Ala287Pro) c.1365G>C (p.Arg455=) n.910G>C | |
| 20 | g.761071C>T | CA509341309 | SLC52A3 | c.*579G>A (n.*579G>A) c.859G>A (p.Ala287Thr) c.1365G>A (p.Arg455=) n.910G>A | gnomAD v4 |
| 20 | g.761072C>A | CA407961799 | SLC52A3 | c.*578G>T (n.*578G>T) c.858G>T (p.Ala286=) c.1364G>T (p.Arg455Leu) n.909G>T | gnomAD v4 |
| 20 | g.761072C= | CA2345348074 | SLC52A3 | c.*578G= (n.*578G=) c.858G= (p.Ala286=) c.1364G= (p.Arg455=) n.909G= | |
| 20 | g.761072C>G | CA9724512 | SLC52A3 | c.*578G>C (n.*578G>C) c.858G>C (p.Ala286=) c.1364G>C (p.Arg455Pro) n.909G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761072C>T | CA310673999 | SLC52A3 | c.*578G>A (n.*578G>A) c.858G>A (p.Ala286=) c.1364G>A (p.Arg455Gln) n.909G>A | dbSNP gnomAD v4 |
| 20 | g.761073G>A | CA310674010 | SLC52A3 | c.*577C>T (n.*577C>T) c.857C>T (p.Ala286Val) c.1363C>T (p.Arg455Trp) n.908C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761073G>C | CA407961800 | SLC52A3 | c.*577C>G (n.*577C>G) c.857C>G (p.Ala286Gly) c.1363C>G (p.Arg455Gly) n.908C>G | |
| 20 | g.761073G= | CA2345348075 | SLC52A3 | c.*577C= (n.*577C=) c.857C= (p.Ala286=) c.1363C= (p.Arg455=) n.908C= | |
| 20 | g.761073G>T | CA509341310 | SLC52A3 | c.*577C>A (n.*577C>A) c.857C>A (p.Ala286Glu) c.1363C>A (p.Arg455=) n.908C>A | |
| 20 | g.761074C>A | CA509341311 | SLC52A3 | c.*576G>T (n.*576G>T) c.856G>T (p.Ala286Ser) c.1362G>T (p.Leu454=) n.907G>T | |
| 20 | g.761074C= | CA2345348076 | SLC52A3 | c.*576G= (n.*576G=) c.856G= (p.Ala286=) c.1362G= (p.Leu454=) n.907G= | |
| 20 | g.761074C>G | CA509341312 | SLC52A3 | c.*576G>C (n.*576G>C) c.856G>C (p.Ala286Pro) c.1362G>C (p.Leu454=) n.907G>C | |
| 20 | g.761074C>T | CA509341313 | SLC52A3 | c.*576G>A (n.*576G>A) c.856G>A (p.Ala286Thr) c.1362G>A (p.Leu454=) n.907G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761075A>C | CA407961801 | SLC52A3 | c.*575T>G (n.*575T>G) c.855T>G (p.Ala285=) c.1361T>G (p.Leu454Arg) n.906T>G | gnomAD v4 |
| 20 | g.761075A>G | CA407961802 | SLC52A3 | c.*575T>C (n.*575T>C) c.855T>C (p.Ala285=) c.1361T>C (p.Leu454Pro) n.906T>C | |
| 20 | g.761075A>T | CA407961803 | SLC52A3 | c.*575T>A (n.*575T>A) c.855T>A (p.Ala285=) c.1361T>A (p.Leu454Gln) n.906T>A | |
| 20 | g.761076G>A | CA509341314 | SLC52A3 | c.*574C>T (n.*574C>T) c.854C>T (p.Ala285Val) c.1360C>T (p.Leu454=) n.905C>T | |
| 20 | g.761076G>C | CA407961804 | SLC52A3 | c.*574C>G (n.*574C>G) c.854C>G (p.Ala285Gly) c.1360C>G (p.Leu454Val) n.905C>G | |
| 20 | g.761076G>T | CA407961805 | SLC52A3 | c.*574C>A (n.*574C>A) c.854C>A (p.Ala285Asp) c.1360C>A (p.Leu454Met) n.905C>A | |
| 20 | g.761077C>A | CA509341315 | SLC52A3 | c.*573G>T (n.*573G>T) c.853G>T (p.Ala285Ser) c.1359G>T (p.Val453=) n.904G>T | |
| 20 | g.761077C= | CA2345348077 | SLC52A3 | c.*573G= (n.*573G=) c.853G= (p.Ala285=) c.1359G= (p.Val453=) n.904G= | |
| 20 | g.761077C>G | CA509341316 | SLC52A3 | c.*573G>C (n.*573G>C) c.853G>C (p.Ala285Pro) c.1359G>C (p.Val453=) n.904G>C | |
| 20 | g.761077C>T | CA9724513 | SLC52A3 | c.*573G>A (n.*573G>A) c.853G>A (p.Ala285Thr) c.1359G>A (p.Val453=) n.904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761078A>C | CA407961806 | SLC52A3 | c.*572T>G (n.*572T>G) c.852T>G (p.Arg284=) c.1358T>G (p.Val453Gly) n.903T>G | |
| 20 | g.761078A>G | CA407961807 | SLC52A3 | c.*572T>C (n.*572T>C) c.852T>C (p.Arg284=) c.1358T>C (p.Val453Ala) n.903T>C | |
| 20 | g.761078A>T | CA407961808 | SLC52A3 | c.*572T>A (n.*572T>A) c.852T>A (p.Arg284=) c.1358T>A (p.Val453Glu) n.903T>A | |
| 20 | g.761079C>A | CA407961811 | SLC52A3 | c.*571G>T (n.*571G>T) c.851G>T (p.Arg284Leu) c.1357G>T (p.Val453Leu) n.902G>T | |
| 20 | g.761079C= | CA2345348078 | SLC52A3 | c.*571G= (n.*571G=) c.851G= (p.Arg284=) c.1357G= (p.Val453=) n.902G= | |
| 20 | g.761079C>G | CA407961810 | SLC52A3 | c.*571G>C (n.*571G>C) c.851G>C (p.Arg284Pro) c.1357G>C (p.Val453Leu) n.902G>C | dbSNP |
| 20 | g.761079C>T | CA407961809 | SLC52A3 | c.*571G>A (n.*571G>A) c.851G>A (p.Arg284His) c.1357G>A (p.Val453Met) n.902G>A | |
| 20 | g.761080G>A | CA509341317 | SLC52A3 | c.*570C>T (n.*570C>T) c.850C>T (p.Arg284Cys) c.1356C>T (p.Asn452=) n.901C>T | dbSNP gnomAD v2 COSMIC |
| 20 | g.761080G>C | CA407961812 | SLC52A3 | c.*570C>G (n.*570C>G) c.850C>G (p.Arg284Gly) c.1356C>G (p.Asn452Lys) n.901C>G | gnomAD v4 |
| 20 | g.761080G= | CA2345348079 | SLC52A3 | c.*570C= (n.*570C=) c.850C= (p.Arg284=) c.1356C= (p.Asn452=) n.901C= | |
| 20 | g.761080G>T | CA9724514 | SLC52A3 | c.*570C>A (n.*570C>A) c.850C>A (p.Arg284Ser) c.1356C>A (p.Asn452Lys) n.901C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761081T>A | CA407961813 | SLC52A3 | c.*569A>T (n.*569A>T) c.849A>T (p.Gln283His) c.1355A>T (p.Asn452Ile) n.900A>T | |
| 20 | g.761081T>C | CA407961814 | SLC52A3 | c.*569A>G (n.*569A>G) c.849A>G (p.Gln283=) c.1355A>G (p.Asn452Ser) n.900A>G | gnomAD v4 |
| 20 | g.761081T>G | CA407961815 | SLC52A3 | c.*569A>C (n.*569A>C) c.849A>C (p.Gln283His) c.1355A>C (p.Asn452Thr) n.900A>C | |
| 20 | g.761082dup | CA2651546438 | SLC52A3 | c.*569dup (n.*569dup) c.849dup (p.Arg284ThrfsTer?) c.1355dup (p.Asn452LysfsTer?) n.900dup | gnomAD v4 |
| 20 | g.761082T>A | CA407961816 | SLC52A3 | c.*568A>T (n.*568A>T) c.848A>T (p.Gln283Leu) c.1354A>T (p.Asn452Tyr) n.899A>T | |
| 20 | g.761082T>C | CA407961817 | SLC52A3 | c.*568A>G (n.*568A>G) c.848A>G (p.Gln283Arg) c.1354A>G (p.Asn452Asp) n.899A>G | |
| 20 | g.761082T>G | CA407961818 | SLC52A3 | c.*568A>C (n.*568A>C) c.848A>C (p.Gln283Pro) c.1354A>C (p.Asn452His) n.899A>C | |
| 20 | g.761083G>A | CA509341318 | SLC52A3 | c.*567C>T (n.*567C>T) c.847C>T (p.Gln283Ter) c.1353C>T (p.Val451=) n.898C>T | gnomAD v4 |
| 20 | g.761083G>C | CA509341320 | SLC52A3 | c.*567C>G (n.*567C>G) c.847C>G (p.Gln283Glu) c.1353C>G (p.Val451=) n.898C>G | ClinVar dbSNP |
| 20 | g.761083G>T | CA509341319 | SLC52A3 | c.*567C>A (n.*567C>A) c.847C>A (p.Gln283Lys) c.1353C>A (p.Val451=) n.898C>A | gnomAD v4 |
| 20 | g.761084A>C | CA407961819 | SLC52A3 | c.*566T>G (n.*566T>G) c.846T>G (p.Gly282=) c.1352T>G (p.Val451Gly) n.897T>G | |
| 20 | g.761084A>G | CA407961820 | SLC52A3 | c.*566T>C (n.*566T>C) c.846T>C (p.Gly282=) c.1352T>C (p.Val451Ala) n.897T>C | |
| 20 | g.761084A>T | CA407961821 | SLC52A3 | c.*566T>A (n.*566T>A) c.846T>A (p.Gly282=) c.1352T>A (p.Val451Asp) n.897T>A | |
| 20 | g.761085C>A | CA407961824 | SLC52A3 | c.*565G>T (n.*565G>T) c.845G>T (p.Gly282Val) c.1351G>T (p.Val451Phe) n.896G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761085C= | CA2345348080 | SLC52A3 | c.*565G= (n.*565G=) c.845G= (p.Gly282=) c.1351G= (p.Val451=) n.896G= | |
| 20 | g.761085C>G | CA407961823 | SLC52A3 | c.*565G>C (n.*565G>C) c.845G>C (p.Gly282Ala) c.1351G>C (p.Val451Leu) n.896G>C | |
| 20 | g.761085C>T | CA407961822 | SLC52A3 | c.*565G>A (n.*565G>A) c.845G>A (p.Gly282Asp) c.1351G>A (p.Val451Ile) n.896G>A | gnomAD v4 |
| 20 | g.761086C>A | CA509341321 | SLC52A3 | c.*564G>T (n.*564G>T) c.844G>T (p.Gly282Cys) c.1350G>T (p.Leu450=) n.895G>T | |
| 20 | g.761086C>G | CA509341322 | SLC52A3 | c.*564G>C (n.*564G>C) c.844G>C (p.Gly282Arg) c.1350G>C (p.Leu450=) n.895G>C | |
| 20 | g.761086C>T | CA509341323 | SLC52A3 | c.*564G>A (n.*564G>A) c.844G>A (p.Gly282Ser) c.1350G>A (p.Leu450=) n.895G>A | |
| 20 | g.761087A= | CA2345348081 | SLC52A3 | c.*563T= (n.*563T=) c.843T= (p.Ser281=) c.1349T= (p.Leu450=) n.894T= | |
| 20 | g.761087A>C | CA407961825 | SLC52A3 | c.*563T>G (n.*563T>G) c.843T>G (p.Ser281=) c.1349T>G (p.Leu450Arg) n.894T>G | |
| 20 | g.761087A>G | CA407961826 | SLC52A3 | c.*563T>C (n.*563T>C) c.843T>C (p.Ser281=) c.1349T>C (p.Leu450Pro) n.894T>C | dbSNP gnomAD v2 |
| 20 | g.761087A>T | CA407961827 | SLC52A3 | c.*563T>A (n.*563T>A) c.843T>A (p.Ser281=) c.1349T>A (p.Leu450Gln) n.894T>A | |
| 20 | g.761088G>A | CA509341324 | SLC52A3 | c.*562C>T (n.*562C>T) c.842C>T (p.Ser281Phe) c.1348C>T (p.Leu450=) n.893C>T | gnomAD v4 |
| 20 | g.761088G>C | CA9724515 | SLC52A3 | c.*562C>G (n.*562C>G) c.842C>G (p.Ser281Cys) c.1348C>G (p.Leu450Val) n.893C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761088G= | CA2345348082 | SLC52A3 | c.*562C= (n.*562C=) c.842C= (p.Ser281=) c.1348C= (p.Leu450=) n.893C= | |
| 20 | g.761088G>T | CA407961828 | SLC52A3 | c.*562C>A (n.*562C>A) c.842C>A (p.Ser281Tyr) c.1348C>A (p.Leu450Met) n.893C>A | |
| 20 | g.761089A>C | CA509341325 | SLC52A3 | c.*561T>G (n.*561T>G) c.841T>G (p.Ser281Ala) c.1347T>G (p.Pro449=) n.892T>G | |
| 20 | g.761089A>G | CA509341326 | SLC52A3 | c.*561T>C (n.*561T>C) c.841T>C (p.Ser281Pro) c.1347T>C (p.Pro449=) n.892T>C | |
| 20 | g.761089A>T | CA509341327 | SLC52A3 | c.*561T>A (n.*561T>A) c.841T>A (p.Ser281Thr) c.1347T>A (p.Pro449=) n.892T>A | |
| 20 | g.761090G>A | CA407961829 | SLC52A3 | c.*560C>T (n.*560C>T) c.840C>T (p.Pro280=) c.1346C>T (p.Pro449Leu) n.891C>T | dbSNP gnomAD v4 |
| 20 | g.761090G>C | CA407961830 | SLC52A3 | c.*560C>G (n.*560C>G) c.840C>G (p.Pro280=) c.1346C>G (p.Pro449Arg) n.891C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761090G= | CA2345348083 | SLC52A3 | c.*560C= (n.*560C=) c.840C= (p.Pro280=) c.1346C= (p.Pro449=) n.891C= | |
| 20 | g.761090G>T | CA407961831 | SLC52A3 | c.*560C>A (n.*560C>A) c.840C>A (p.Pro280=) c.1346C>A (p.Pro449His) n.891C>A | gnomAD v4 |
| 20 | g.761091G>A | CA407961832 | SLC52A3 | c.*559C>T (n.*559C>T) c.839C>T (p.Pro280Leu) c.1345C>T (p.Pro449Ser) n.890C>T | |
| 20 | g.761091G>C | CA407961833 | SLC52A3 | c.*559C>G (n.*559C>G) c.839C>G (p.Pro280Arg) c.1345C>G (p.Pro449Ala) n.890C>G | |
| 20 | g.761091G>T | CA407961834 | SLC52A3 | c.*559C>A (n.*559C>A) c.839C>A (p.Pro280His) c.1345C>A (p.Pro449Thr) n.890C>A | gnomAD v4 |
| 20 | g.761092G>A | CA509341328 | SLC52A3 | c.*558C>T (n.*558C>T) c.838C>T (p.Pro280Ser) c.1344C>T (p.Phe448=) n.889C>T | |
| 20 | g.761092G>C | CA407961835 | SLC52A3 | c.*558C>G (n.*558C>G) c.838C>G (p.Pro280Ala) c.1344C>G (p.Phe448Leu) n.889C>G | gnomAD v4 |
| 20 | g.761092G>T | CA407961836 | SLC52A3 | c.*558C>A (n.*558C>A) c.838C>A (p.Pro280Thr) c.1344C>A (p.Phe448Leu) n.889C>A | |
| 20 | g.761093A>C | CA407961839 | SLC52A3 | c.*557T>G (n.*557T>G) c.837T>G (p.Val279=) c.1343T>G (p.Phe448Cys) n.888T>G | |
| 20 | g.761093A>G | CA407961837 | SLC52A3 | c.*557T>C (n.*557T>C) c.837T>C (p.Val279=) c.1343T>C (p.Phe448Ser) n.888T>C | |
| 20 | g.761093A>T | CA407961838 | SLC52A3 | c.*557T>A (n.*557T>A) c.837T>A (p.Val279=) c.1343T>A (p.Phe448Tyr) n.888T>A | |
| 20 | g.761094A>C | CA407961840 | SLC52A3 | c.*556T>G (n.*556T>G) c.836T>G (p.Val279Gly) c.1342T>G (p.Phe448Val) n.887T>G | |
| 20 | g.761094A>G | CA407961841 | SLC52A3 | c.*556T>C (n.*556T>C) c.836T>C (p.Val279Ala) c.1342T>C (p.Phe448Leu) n.887T>C | |
| 20 | g.761094A>T | CA407961842 | SLC52A3 | c.*556T>A (n.*556T>A) c.836T>A (p.Val279Asp) c.1342T>A (p.Phe448Ile) n.887T>A | |
| 20 | g.761095C>A | CA407961843 | SLC52A3 | c.*555G>T (n.*555G>T) c.835G>T (p.Val279Phe) c.1341G>T (p.Met447Ile) n.886G>T | COSMIC |
| 20 | g.761095C>G | CA407961844 | SLC52A3 | c.*555G>C (n.*555G>C) c.835G>C (p.Val279Leu) c.1341G>C (p.Met447Ile) n.886G>C | |
| 20 | g.761095C>T | CA407961845 | SLC52A3 | c.*555G>A (n.*555G>A) c.835G>A (p.Val279Ile) c.1341G>A (p.Met447Ile) n.886G>A | |
| 20 | g.761096A= | CA2345348084 | SLC52A3 | c.*554T= (n.*554T=) c.834T= (p.His278=) c.1340T= (p.Met447=) n.885T= | |
| 20 | g.761096A>C | CA407961846 | SLC52A3 | c.*554T>G (n.*554T>G) c.834T>G (p.His278Gln) c.1340T>G (p.Met447Arg) n.885T>G | |
| 20 | g.761096A>G | CA407961847 | SLC52A3 | c.*554T>C (n.*554T>C) c.834T>C (p.His278=) c.1340T>C (p.Met447Thr) n.885T>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.761096A>T | CA407961848 | SLC52A3 | c.*554T>A (n.*554T>A) c.834T>A (p.His278Gln) c.1340T>A (p.Met447Lys) n.885T>A | |
| 20 | g.761097T>A | CA407961849 | SLC52A3 | c.*553A>T (n.*553A>T) c.833A>T (p.His278Leu) c.1339A>T (p.Met447Leu) n.884A>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761097T>C | CA9724516 | SLC52A3 | c.*553A>G (n.*553A>G) c.833A>G (p.His278Arg) c.1339A>G (p.Met447Val) n.884A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761097T>G | CA310674024 | SLC52A3 | c.*553A>C (n.*553A>C) c.833A>C (p.His278Pro) c.1339A>C (p.Met447Leu) n.884A>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761097T= | CA2345348085 | SLC52A3 | c.*553A= (n.*553A=) c.833A= (p.His278=) c.1339A= (p.Met447=) n.884A= | |
| 20 | g.761097dup | CA1014677391 | SLC52A3 | c.*553dup (n.*553dup) c.833dup (p.His278GlnfsTer?) c.1339dup (p.Met447AsnfsTer?) n.884dup | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761097_761109delinsTGAGCAGCGCTCC | CA2345348086 | SLC52A3 | c.*541_*553delinsGGAGCGCTGCTCA (n.*541_*553delinsGGAGCGCTGCTCA) c.821_833delinsGGAGCGCTGCTCA (p.Arg274=) c.1327_1339delinsGGAGCGCTGCTCA (p.Gly443=) n.872_884delinsGGAGCGCTGCTCA | |
| 20 | g.761098G>A | CA509341329 | SLC52A3 | c.*552C>T (n.*552C>T) c.832C>T (p.His278Tyr) c.1338C>T (p.Leu446=) n.883C>T | gnomAD v4 |
| 20 | g.761098G>C | CA509341331 | SLC52A3 | c.*552C>G (n.*552C>G) c.832C>G (p.His278Asp) c.1338C>G (p.Leu446=) n.883C>G | |
| 20 | g.761098G>T | CA509341330 | SLC52A3 | c.*552C>A (n.*552C>A) c.832C>A (p.His278Asn) c.1338C>A (p.Leu446=) n.883C>A | gnomAD v4 |
| 20 | g.761106_761117dup | CA1139666615 | SLC52A3 | c.*541_*552dup (n.*541_*552dup) c.821_832dup (p.Ala277_His278insArgSerAlaAla) c.1327_1338dup (p.Leu446_Met447insGlyAlaLeuLeu) n.872_883dup | ClinVar dbSNP gnomAD v4 |
| 20 | g.761106_761117del | CA746663490 | SLC52A3 | c.*541_*552del (n.*541_*552del) c.821_832del (p.Arg274_Ala277del) c.1327_1338del (p.Gly443_Leu446del) n.872_883del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.761099A= | CA2345348087 | SLC52A3 | c.*551T= (n.*551T=) c.831T= (p.Ala277=) c.1337T= (p.Leu446=) n.882T= | |
| 20 | g.761099A>C | CA407961851 | SLC52A3 | c.*551T>G (n.*551T>G) c.831T>G (p.Ala277=) c.1337T>G (p.Leu446Arg) n.882T>G | |
| 20 | g.761099A>G | CA9724517 | SLC52A3 | c.*551T>C (n.*551T>C) c.831T>C (p.Ala277=) c.1337T>C (p.Leu446Pro) n.882T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.761099A>T | CA407961850 | SLC52A3 | c.*551T>A (n.*551T>A) c.831T>A (p.Ala277=) c.1337T>A (p.Leu446His) n.882T>A | |
| 20 | g.761100G>A | CA407961853 | SLC52A3 | c.*550C>T (n.*550C>T) c.830C>T (p.Ala277Val) c.1336C>T (p.Leu446Phe) n.881C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.761100G>C | CA407961852 | SLC52A3 | c.*550C>G (n.*550C>G) c.830C>G (p.Ala277Gly) c.1336C>G (p.Leu446Val) n.881C>G | |
| 20 | g.761100G= | CA2345348088 | SLC52A3 | c.*550C= (n.*550C=) c.830C= (p.Ala277=) c.1336C= (p.Leu446=) n.881C= | |
| 20 | g.761100G>T | CA407961854 | SLC52A3 | c.*550C>A (n.*550C>A) c.830C>A (p.Ala277Asp) c.1336C>A (p.Leu446Ile) n.881C>A | gnomAD v4 |