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.765291_765294dup | CA634326094 | SLC52A3 | c.481_484dup (p.Gly162ValfsTer11) n.532_535dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765293G>A | CA407963744 | SLC52A3 | c.482C>T (p.Ser161Phe) n.533C>T | |
| 20 | g.765293G>C | CA407963745 | SLC52A3 | c.482C>G (p.Ser161Cys) n.533C>G | gnomAD v4 |
| 20 | g.765293G>T | CA407963746 | SLC52A3 | c.482C>A (p.Ser161Tyr) n.533C>A | |
| 20 | g.765294A>C | CA407963747 | SLC52A3 | c.481T>G (p.Ser161Ala) n.532T>G | |
| 20 | g.765294A>G | CA407963748 | SLC52A3 | c.481T>C (p.Ser161Pro) n.532T>C | |
| 20 | g.765294A>T | CA407963749 | SLC52A3 | c.481T>A (p.Ser161Thr) n.532T>A | |
| 20 | g.765295G>A | CA509542673 | SLC52A3 | c.480C>T (p.Gly160=) n.531C>T | |
| 20 | g.765295G>C | CA509542675 | SLC52A3 | c.480C>G (p.Gly160=) n.531C>G | |
| 20 | g.765295G>T | CA509542674 | SLC52A3 | c.480C>A (p.Gly160=) n.531C>A | |
| 20 | g.765296C>A | CA407963751 | SLC52A3 | c.479G>T (p.Gly160Val) n.530G>T | |
| 20 | g.765296C>G | CA407963752 | SLC52A3 | c.479G>C (p.Gly160Ala) n.530G>C | |
| 20 | g.765296C>T | CA407963750 | SLC52A3 | c.479G>A (p.Gly160Asp) n.530G>A | |
| 20 | g.765297C>A | CA407963753 | SLC52A3 | c.478G>T (p.Gly160Cys) n.529G>T | COSMIC COSMIC |
| 20 | g.765297C= | CA2345350084 | SLC52A3 | c.478G= (p.Gly160=) n.529G= | |
| 20 | g.765297C>G | CA407963754 | SLC52A3 | c.478G>C (p.Gly160Arg) n.529G>C | |
| 20 | g.765297C>T | CA9724771 | SLC52A3 | c.478G>A (p.Gly160Ser) n.529G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765298C>A | CA407963755 | SLC52A3 | c.477G>T (p.Gln159His) n.528G>T | |
| 20 | g.765298C>G | CA407963756 | SLC52A3 | c.477G>C (p.Gln159His) n.528G>C | |
| 20 | g.765298C>T | CA509542679 | SLC52A3 | c.477G>A (p.Gln159=) n.528G>A | |
| 20 | g.765299T>A | CA407963757 | SLC52A3 | c.476A>T (p.Gln159Leu) n.527A>T | |
| 20 | g.765299T>C | CA407963758 | SLC52A3 | c.476A>G (p.Gln159Arg) n.527A>G | |
| 20 | g.765299T>G | CA407963759 | SLC52A3 | c.476A>C (p.Gln159Pro) n.527A>C | |
| 20 | g.765300G>A | CA407963760 | SLC52A3 | c.475C>T (p.Gln159Ter) n.526C>T | |
| 20 | g.765300G>C | CA407963761 | SLC52A3 | c.475C>G (p.Gln159Glu) n.526C>G | |
| 20 | g.765300G>T | CA407963762 | SLC52A3 | c.475C>A (p.Gln159Lys) n.526C>A | |
| 20 | g.765301G>A | CA9724772 | SLC52A3 | c.474C>T (p.Ala158=) n.525C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765301G>C | CA509542683 | SLC52A3 | c.474C>G (p.Ala158=) n.525C>G | |
| 20 | g.765301G= | CA2345350085 | SLC52A3 | c.474C= (p.Ala158=) n.525C= | |
| 20 | g.765301G>T | CA509542684 | SLC52A3 | c.474C>A (p.Ala158=) n.525C>A | |
| 20 | g.765302G>A | CA407963763 | SLC52A3 | c.473C>T (p.Ala158Val) n.524C>T | |
| 20 | g.765302G>C | CA407963764 | SLC52A3 | c.473C>G (p.Ala158Gly) n.524C>G | |
| 20 | g.765302G>T | CA407963765 | SLC52A3 | c.473C>A (p.Ala158Asp) n.524C>A | |
| 20 | g.765303C>A | CA407963768 | SLC52A3 | c.472G>T (p.Ala158Ser) n.523G>T | |
| 20 | g.765303C>G | CA407963767 | SLC52A3 | c.472G>C (p.Ala158Pro) n.523G>C | |
| 20 | g.765303C>T | CA407963766 | SLC52A3 | c.472G>A (p.Ala158Thr) n.523G>A | gnomAD v4 |
| 20 | g.765304A= | CA2345350086 | SLC52A3 | c.471T= (p.Leu157=) n.522T= | |
| 20 | g.765304A>C | CA509542687 | SLC52A3 | c.471T>G (p.Leu157=) n.522T>G | |
| 20 | g.765304A>G | CA509542688 | SLC52A3 | c.471T>C (p.Leu157=) n.522T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765304A>T | CA509542689 | SLC52A3 | c.471T>A (p.Leu157=) n.522T>A | |
| 20 | g.765305A>C | CA407963769 | SLC52A3 | c.470T>G (p.Leu157Arg) n.521T>G | |
| 20 | g.765305A>G | CA407963770 | SLC52A3 | c.470T>C (p.Leu157Pro) n.521T>C | |
| 20 | g.765305A>T | CA407963771 | SLC52A3 | c.470T>A (p.Leu157His) n.521T>A | |
| 20 | g.765306G>A | CA407963772 | SLC52A3 | c.469C>T (p.Leu157Phe) n.520C>T | gnomAD v4 |
| 20 | g.765306G>C | CA407963773 | SLC52A3 | c.469C>G (p.Leu157Val) n.520C>G | |
| 20 | g.765306G>T | CA407963774 | SLC52A3 | c.469C>A (p.Leu157Ile) n.520C>A | |
| 20 | g.765307A= | CA2345350087 | SLC52A3 | c.468T= (p.Ala156=) n.519T= | |
| 20 | g.765307A>C | CA509542695 | SLC52A3 | c.468T>G (p.Ala156=) n.519T>G | |
| 20 | g.765307A>G | CA509542693 | SLC52A3 | c.468T>C (p.Ala156=) n.519T>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.765307A>T | CA509542694 | SLC52A3 | c.468T>A (p.Ala156=) n.519T>A | gnomAD v4 |
| 20 | g.765308G>A | CA407963775 | SLC52A3 | c.467C>T (p.Ala156Val) n.518C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.765308G>C | CA407963776 | SLC52A3 | c.467C>G (p.Ala156Gly) n.518C>G | |
| 20 | g.765308G= | CA2345350088 | SLC52A3 | c.467C= (p.Ala156=) n.518C= | |
| 20 | g.765308G>T | CA407963777 | SLC52A3 | c.467C>A (p.Ala156Asp) n.518C>A | |
| 20 | g.765310_765311insCAAATAGCTGGGATTACAGGTGCATGCC | CA634326095 | SLC52A3 | c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC (p.Leu157CysfsTer24) n.518_519insATGCACCTGTAATCCCAGCTATTTGGGC | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765309C>A | CA407963778 | SLC52A3 | c.466G>T (p.Ala156Ser) n.517G>T | |
| 20 | g.765309C>G | CA407963779 | SLC52A3 | c.466G>C (p.Ala156Pro) n.517G>C | |
| 20 | g.765309C>T | CA407963780 | SLC52A3 | c.466G>A (p.Ala156Thr) n.517G>A | |
| 20 | g.765310dup | CA2651547883 | SLC52A3 | c.466dup (p.Ala156GlyfsTer16) n.517dup | gnomAD v4 |
| 20 | g.765310C>A | CA509542699 | SLC52A3 | c.465G>T (p.Val155=) n.516G>T | |
| 20 | g.765310C>G | CA509542700 | SLC52A3 | c.465G>C (p.Val155=) n.516G>C | |
| 20 | g.765310C>T | CA509542701 | SLC52A3 | c.465G>A (p.Val155=) n.516G>A | |
| 20 | g.765311A>C | CA407963782 | SLC52A3 | c.464T>G (p.Val155Gly) n.515T>G | |
| 20 | g.765311A>G | CA407963783 | SLC52A3 | c.464T>C (p.Val155Ala) n.515T>C | |
| 20 | g.765311A>T | CA407963781 | SLC52A3 | c.464T>A (p.Val155Glu) n.515T>A | |
| 20 | g.765311_765312insAATAGCTGGGATTACAGGTGCATG | CA2651547884 | SLC52A3 | c.463_464insCATGCACCTGTAATCCCAGCTATT (p.Val155delinsAlaCysThrCysAsnProSerTyrLeu) n.514_515insCATGCACCTGTAATCCCAGCTATT | gnomAD v4 |
| 20 | g.765312C>A | CA407963784 | SLC52A3 | c.463G>T (p.Val155Leu) n.514G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765312C= | CA2345350089 | SLC52A3 | c.463G= (p.Val155=) n.514G= | |
| 20 | g.765312C>G | CA407963785 | SLC52A3 | c.463G>C (p.Val155Leu) n.514G>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765312C>T | CA407963786 | SLC52A3 | c.463G>A (p.Val155Met) n.514G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765313C>A | CA509542703 | SLC52A3 | c.462G>T (p.Leu154=) n.513G>T | |
| 20 | g.765313C>G | CA509542704 | SLC52A3 | c.462G>C (p.Leu154=) n.513G>C | |
| 20 | g.765313C>T | CA509542705 | SLC52A3 | c.462G>A (p.Leu154=) n.513G>A | |
| 20 | g.765314A>C | CA407963787 | SLC52A3 | c.461T>G (p.Leu154Arg) n.512T>G | |
| 20 | g.765314A>G | CA407963788 | SLC52A3 | c.461T>C (p.Leu154Pro) n.512T>C | |
| 20 | g.765314A>T | CA407963789 | SLC52A3 | c.461T>A (p.Leu154Gln) n.512T>A | |
| 20 | g.765314_765337delinsAGGGCGGGCAAGAGGCCGCTGAGT | CA2345350090 | SLC52A3 | c.438_461delinsACTCAGCGGCCTCTTGCCCGCCCT (p.Gly146=) n.489_512delinsACTCAGCGGCCTCTTGCCCGCCCT | |
| 20 | g.765315G>A | CA509542708 | SLC52A3 | c.460C>T (p.Leu154=) n.511C>T | dbSNP |
| 20 | g.765315G>C | CA407963790 | SLC52A3 | c.460C>G (p.Leu154Val) n.511C>G | |
| 20 | g.765315G= | CA2345350091 | SLC52A3 | c.460C= (p.Leu154=) n.511C= | |
| 20 | g.765315G>T | CA407963791 | SLC52A3 | c.460C>A (p.Leu154Met) n.511C>A | |
| 20 | g.765315_765337del | CA9724773 | SLC52A3 | c.438_460del (p.Leu147GlyfsTer17) n.489_511del | dbSNP ExAC |
| 20 | g.765316G>A | CA509542710 | SLC52A3 | c.459C>T (p.Ala153=) n.510C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765316G>C | CA509542711 | SLC52A3 | c.459C>G (p.Ala153=) n.510C>G | |
| 20 | g.765316G= | CA2345350092 | SLC52A3 | c.459C= (p.Ala153=) n.510C= | |
| 20 | g.765316G>T | CA9724774 | SLC52A3 | c.459C>A (p.Ala153=) n.510C>A | dbSNP ExAC gnomAD v4 |
| 20 | g.765317G>A | CA407963792 | SLC52A3 | c.458C>T (p.Ala153Val) n.509C>T | |
| 20 | g.765317G>C | CA407963793 | SLC52A3 | c.458C>G (p.Ala153Gly) n.509C>G | gnomAD v4 |
| 20 | g.765317G>T | CA407963794 | SLC52A3 | c.458C>A (p.Ala153Asp) n.509C>A | |
| 20 | g.765318C>A | CA9724775 | SLC52A3 | c.457G>T (p.Ala153Ser) n.508G>T | dbSNP ExAC gnomAD v4 |
| 20 | g.765318C= | CA2345350093 | SLC52A3 | c.457G= (p.Ala153=) n.508G= | |
| 20 | g.765318C>G | CA407963796 | SLC52A3 | c.457G>C (p.Ala153Pro) n.508G>C | |
| 20 | g.765318C>T | CA407963795 | SLC52A3 | c.457G>A (p.Ala153Thr) n.508G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765319G>A | CA9724776 | SLC52A3 | c.456C>T (p.Pro152=) n.507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765319G>C | CA509542717 | SLC52A3 | c.456C>G (p.Pro152=) n.507C>G | |
| 20 | g.765319G= | CA2345350094 | SLC52A3 | c.456C= (p.Pro152=) n.507C= | |
| 20 | g.765319G>T | CA509542718 | SLC52A3 | c.456C>A (p.Pro152=) n.507C>A | dbSNP |
| 20 | g.765320G>A | CA407963797 | SLC52A3 | c.455C>T (p.Pro152Leu) n.506C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765320G>C | CA407963798 | SLC52A3 | c.455C>G (p.Pro152Arg) n.506C>G | |
| 20 | g.765320G= | CA2345350095 | SLC52A3 | c.455C= (p.Pro152=) n.506C= | |
| 20 | g.765320G>T | CA407963799 | SLC52A3 | c.455C>A (p.Pro152His) n.506C>A | |
| 20 | g.765321G>A | CA407963800 | SLC52A3 | c.454C>T (p.Pro152Ser) n.505C>T | |
| 20 | g.765321G>C | CA407963801 | SLC52A3 | c.454C>G (p.Pro152Ala) n.505C>G | |
| 20 | g.765321G>T | CA407963802 | SLC52A3 | c.454C>A (p.Pro152Thr) n.505C>A | |
| 20 | g.765322C>A | CA407963803 | SLC52A3 | c.453G>T (p.Leu151Phe) n.504G>T | |
| 20 | g.765322C>G | CA407963804 | SLC52A3 | c.453G>C (p.Leu151Phe) n.504G>C | |
| 20 | g.765322C>T | CA509542722 | SLC52A3 | c.453G>A (p.Leu151=) n.504G>A | |
| 20 | g.765323A>C | CA407963805 | SLC52A3 | c.452T>G (p.Leu151Trp) n.503T>G | |
| 20 | g.765323A>G | CA407963806 | SLC52A3 | c.452T>C (p.Leu151Ser) n.503T>C | |
| 20 | g.765323A>T | CA407963807 | SLC52A3 | c.452T>A (p.Leu151Ter) n.503T>A | |
| 20 | g.765324A>C | CA407963808 | SLC52A3 | c.451T>G (p.Leu151Val) n.502T>G | |
| 20 | g.765324A>G | CA509542724 | SLC52A3 | c.451T>C (p.Leu151=) n.502T>C | gnomAD v4 |
| 20 | g.765324A>T | CA407963809 | SLC52A3 | c.451T>A (p.Leu151Met) n.502T>A | |
| 20 | g.765325G>A | CA509542725 | SLC52A3 | c.450C>T (p.Leu150=) n.501C>T | dbSNP gnomAD v4 |
| 20 | g.765325G>C | CA509542726 | SLC52A3 | c.450C>G (p.Leu150=) n.501C>G | gnomAD v4 |
| 20 | g.765325G= | CA2345350096 | SLC52A3 | c.450C= (p.Leu150=) n.501C= | |
| 20 | g.765325G>T | CA509542727 | SLC52A3 | c.450C>A (p.Leu150=) n.501C>A | |
| 20 | g.765326A>C | CA407963810 | SLC52A3 | c.449T>G (p.Leu150Arg) n.500T>G | |
| 20 | g.765326A>G | CA407963811 | SLC52A3 | c.449T>C (p.Leu150Pro) n.500T>C | |
| 20 | g.765326A>T | CA407963812 | SLC52A3 | c.449T>A (p.Leu150His) n.500T>A | |
| 20 | g.765327G>A | CA9724777 | SLC52A3 | c.448C>T (p.Leu150Phe) n.499C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765327G>C | CA407963813 | SLC52A3 | c.448C>G (p.Leu150Val) n.499C>G | |
| 20 | g.765327G= | CA2345350097 | SLC52A3 | c.448C= (p.Leu150=) n.499C= | |
| 20 | g.765327G>T | CA407963814 | SLC52A3 | c.448C>A (p.Leu150Ile) n.499C>A | |
| 20 | g.765328G>A | CA509542730 | SLC52A3 | c.447C>T (p.Gly149=) n.498C>T | gnomAD v4 |
| 20 | g.765328G>C | CA509542732 | SLC52A3 | c.447C>G (p.Gly149=) n.498C>G | |
| 20 | g.765328G= | CA2345350098 | SLC52A3 | c.447C= (p.Gly149=) n.498C= | |
| 20 | g.765328G>T | CA9724778 | SLC52A3 | c.447C>A (p.Gly149=) n.498C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765329C>A | CA9724779 | SLC52A3 | c.446G>T (p.Gly149Val) n.497G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765329C= | CA2345350099 | SLC52A3 | c.446G= (p.Gly149=) n.497G= | |
| 20 | g.765329C>G | CA407963815 | SLC52A3 | c.446G>C (p.Gly149Ala) n.497G>C | |
| 20 | g.765329C>T | CA407963816 | SLC52A3 | c.446G>A (p.Gly149Asp) n.497G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765330C>A | CA407963817 | SLC52A3 | c.445G>T (p.Gly149Cys) n.496G>T | |
| 20 | g.765330C= | CA2345350100 | SLC52A3 | c.445G= (p.Gly149=) n.496G= | |
| 20 | g.765330C>G | CA407963818 | SLC52A3 | c.445G>C (p.Gly149Arg) n.496G>C | |
| 20 | g.765330C>T | CA407963819 | SLC52A3 | c.445G>A (p.Gly149Ser) n.496G>A | ClinVar dbSNP |
| 20 | g.765331G>A | CA9724780 | SLC52A3 | c.444C>T (p.Ser148=) n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765331G>C | CA407963821 | SLC52A3 | c.444C>G (p.Ser148Arg) n.495C>G | |
| 20 | g.765331G= | CA2345350101 | SLC52A3 | c.444C= (p.Ser148=) n.495C= | |
| 20 | g.765331G>T | CA407963820 | SLC52A3 | c.444C>A (p.Ser148Arg) n.495C>A | |
| 20 | g.765332C>A | CA407963822 | SLC52A3 | c.443G>T (p.Ser148Ile) n.494G>T | |
| 20 | g.765332C= | CA2345350102 | SLC52A3 | c.443G= (p.Ser148=) n.494G= | |
| 20 | g.765332C>G | CA407963823 | SLC52A3 | c.443G>C (p.Ser148Thr) n.494G>C | |
| 20 | g.765332C>T | CA407963824 | SLC52A3 | c.443G>A (p.Ser148Asn) n.494G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765333T>A | CA407963825 | SLC52A3 | c.442A>T (p.Ser148Cys) n.493A>T | |
| 20 | g.765333T>C | CA407963826 | SLC52A3 | c.442A>G (p.Ser148Gly) n.493A>G | |
| 20 | g.765333T>G | CA407963827 | SLC52A3 | c.442A>C (p.Ser148Arg) n.493A>C | |
| 20 | g.765334G>A | CA509542737 | SLC52A3 | c.441C>T (p.Leu147=) n.492C>T | |
| 20 | g.765334G>C | CA509542738 | SLC52A3 | c.441C>G (p.Leu147=) n.492C>G | |
| 20 | g.765334G= | CA2345350103 | SLC52A3 | c.441C= (p.Leu147=) n.492C= | |
| 20 | g.765334G>T | CA9724781 | SLC52A3 | c.441C>A (p.Leu147=) n.492C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765335A>C | CA407963828 | SLC52A3 | c.440T>G (p.Leu147Arg) n.491T>G | |
| 20 | g.765335A>G | CA407963829 | SLC52A3 | c.440T>C (p.Leu147Pro) n.491T>C | |
| 20 | g.765335A>T | CA407963830 | SLC52A3 | c.440T>A (p.Leu147His) n.491T>A | |
| 20 | g.765336G>A | CA407963831 | SLC52A3 | c.439C>T (p.Leu147Phe) n.490C>T | |
| 20 | g.765336G>C | CA407963832 | SLC52A3 | c.439C>G (p.Leu147Val) n.490C>G | |
| 20 | g.765336G= | CA2345350104 | SLC52A3 | c.439C= (p.Leu147=) n.490C= | |
| 20 | g.765336G>T | CA9724782 | SLC52A3 | c.439C>A (p.Leu147Ile) n.490C>A | dbSNP ExAC |
| 20 | g.765337T>A | CA509542742 | SLC52A3 | c.438A>T (p.Gly146=) n.489A>T | |
| 20 | g.765337T>C | CA9724783 | SLC52A3 | c.438A>G (p.Gly146=) n.489A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765337T>G | CA509542744 | SLC52A3 | c.438A>C (p.Gly146=) n.489A>C | |
| 20 | g.765337T= | CA2345350105 | SLC52A3 | c.438A= (p.Gly146=) n.489A= | |
| 20 | g.765338C>A | CA407963834 | SLC52A3 | c.437G>T (p.Gly146Val) n.488G>T | |
| 20 | g.765338C>G | CA407963835 | SLC52A3 | c.437G>C (p.Gly146Ala) n.488G>C | |
| 20 | g.765338C>T | CA407963833 | SLC52A3 | c.437G>A (p.Gly146Glu) n.488G>A | |
| 20 | g.765339C>A | CA407963836 | SLC52A3 | c.436G>T (p.Gly146Ter) n.487G>T | |
| 20 | g.765339C= | CA2345350106 | SLC52A3 | c.436G= (p.Gly146=) n.487G= | |
| 20 | g.765339C>G | CA407963837 | SLC52A3 | c.436G>C (p.Gly146Arg) n.487G>C | |
| 20 | g.765339C>T | CA407963838 | SLC52A3 | c.436G>A (p.Gly146Arg) n.487G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765340T>A | CA407963839 | SLC52A3 | c.435A>T (p.Glu145Asp) n.486A>T | |
| 20 | g.765340T>C | CA509542746 | SLC52A3 | c.435A>G (p.Glu145=) n.486A>G | |
| 20 | g.765340T>G | CA407963840 | SLC52A3 | c.435A>C (p.Glu145Asp) n.486A>C | |
| 20 | g.765341T>A | CA407963841 | SLC52A3 | c.434A>T (p.Glu145Val) n.485A>T | |
| 20 | g.765341T>C | CA407963842 | SLC52A3 | c.434A>G (p.Glu145Gly) n.485A>G | |
| 20 | g.765341T>G | CA407963843 | SLC52A3 | c.434A>C (p.Glu145Ala) n.485A>C | |
| 20 | g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG | CA2345350107 | SLC52A3 | c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA (p.Ser131=) n.444_485delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA | |
| 20 | g.765342C>A | CA407963844 | SLC52A3 | c.433G>T (p.Glu145Ter) n.484G>T | |
| 20 | g.765342C>G | CA407963845 | SLC52A3 | c.433G>C (p.Glu145Gln) n.484G>C | COSMIC COSMIC |
| 20 | g.765342C>T | CA407963846 | SLC52A3 | c.433G>A (p.Glu145Lys) n.484G>A | |
| 20 | g.765343_765383del | CA9724784 | SLC52A3 | c.393_433del (p.Ser131ArgfsTer27) n.444_484del | dbSNP ExAC |
| 20 | g.765343A= | CA2345350108 | SLC52A3 | c.432T= (p.Gly144=) n.483T= | |
| 20 | g.765343A>C | CA509542750 | SLC52A3 | c.432T>G (p.Gly144=) n.483T>G | |
| 20 | g.765343A>G | CA509542752 | SLC52A3 | c.432T>C (p.Gly144=) n.483T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765343A>T | CA509542754 | SLC52A3 | c.432T>A (p.Gly144=) n.483T>A | |
| 20 | g.765344C>A | CA407963849 | SLC52A3 | c.431G>T (p.Gly144Val) n.482G>T | |
| 20 | g.765344C>G | CA407963847 | SLC52A3 | c.431G>C (p.Gly144Ala) n.482G>C | |
| 20 | g.765344C>T | CA407963848 | SLC52A3 | c.431G>A (p.Gly144Asp) n.482G>A | gnomAD v4 |
| 20 | g.765345C>A | CA407963850 | SLC52A3 | c.430G>T (p.Gly144Cys) n.481G>T | |
| 20 | g.765345C= | CA2345350109 | SLC52A3 | c.430G= (p.Gly144=) n.481G= | |
| 20 | g.765345C>G | CA407963851 | SLC52A3 | c.430G>C (p.Gly144Arg) n.481G>C | |
| 20 | g.765345C>T | CA310679104 | SLC52A3 | c.430G>A (p.Gly144Ser) n.481G>A | dbSNP |
| 20 | g.765346C>A | CA509542755 | SLC52A3 | c.429G>T (p.Val143=) n.480G>T | |
| 20 | g.765346C>G | CA509542757 | SLC52A3 | c.429G>C (p.Val143=) n.480G>C | |
| 20 | g.765346C>T | CA509542758 | SLC52A3 | c.429G>A (p.Val143=) n.480G>A | |
| 20 | g.765347A>C | CA407963852 | SLC52A3 | c.428T>G (p.Val143Gly) n.479T>G | |
| 20 | g.765347A>G | CA407963853 | SLC52A3 | c.428T>C (p.Val143Ala) n.479T>C | |
| 20 | g.765347A>T | CA407963854 | SLC52A3 | c.428T>A (p.Val143Glu) n.479T>A | |
| 20 | g.765348C>A | CA407963855 | SLC52A3 | c.427G>T (p.Val143Leu) n.478G>T | |
| 20 | g.765348C>G | CA407963856 | SLC52A3 | c.427G>C (p.Val143Leu) n.478G>C | |
| 20 | g.765348C>T | CA407963857 | SLC52A3 | c.427G>A (p.Val143Met) n.478G>A | |
| 20 | g.765349A= | CA2345350110 | SLC52A3 | c.426T= (p.Phe142=) n.477T= | |
| 20 | g.765349A>C | CA407963858 | SLC52A3 | c.426T>G (p.Phe142Leu) n.477T>G | |
| 20 | g.765349A>G | CA509542760 | SLC52A3 | c.426T>C (p.Phe142=) n.477T>C | |
| 20 | g.765349A>T | CA407963859 | SLC52A3 | c.426T>A (p.Phe142Leu) n.477T>A | dbSNP |
| 20 | g.765349_765352delinsAAAG | CA2345350111 | SLC52A3 | c.423_426delinsCTTT (p.Phe141=) n.474_477delinsCTTT | |
| 20 | g.765350A>C | CA407963862 | SLC52A3 | c.425T>G (p.Phe142Cys) n.476T>G | |
| 20 | g.765350A>G | CA407963861 | SLC52A3 | c.425T>C (p.Phe142Ser) n.476T>C | |
| 20 | g.765350A>T | CA407963860 | SLC52A3 | c.425T>A (p.Phe142Tyr) n.476T>A | |
| 20 | g.765353_765355del | CA2345350112 | SLC52A3 | c.423_425del (p.Phe142del) n.474_476del | dbSNP |
| 20 | g.765351A>C | CA407963863 | SLC52A3 | c.424T>G (p.Phe142Val) n.475T>G | |
| 20 | g.765351A>G | CA407963865 | SLC52A3 | c.424T>C (p.Phe142Leu) n.475T>C | |
| 20 | g.765351A>T | CA407963864 | SLC52A3 | c.424T>A (p.Phe142Ile) n.475T>A | |
| 20 | g.765352G>A | CA509542761 | SLC52A3 | c.423C>T (p.Phe141=) n.474C>T | |
| 20 | g.765352G>C | CA407963866 | SLC52A3 | c.423C>G (p.Phe141Leu) n.474C>G | |
| 20 | g.765352G>T | CA407963867 | SLC52A3 | c.423C>A (p.Phe141Leu) n.474C>A | |
| 20 | g.765353A>C | CA407963868 | SLC52A3 | c.422T>G (p.Phe141Cys) n.473T>G | |
| 20 | g.765353A>G | CA407963870 | SLC52A3 | c.422T>C (p.Phe141Ser) n.473T>C | |
| 20 | g.765353A>T | CA407963869 | SLC52A3 | c.422T>A (p.Phe141Tyr) n.473T>A | |
| 20 | g.765354A= | CA2345350113 | SLC52A3 | c.421T= (p.Phe141=) n.472T= | |
| 20 | g.765354A>C | CA407963871 | SLC52A3 | c.421T>G (p.Phe141Val) n.472T>G | |
| 20 | g.765354A>G | CA407963872 | SLC52A3 | c.421T>C (p.Phe141Leu) n.472T>C | |
| 20 | g.765354A>T | CA9724785 | SLC52A3 | c.421T>A (p.Phe141Ile) n.472T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765355G>A | CA509542765 | SLC52A3 | c.420C>T (p.Thr140=) n.471C>T | gnomAD v4 |
| 20 | g.765355G>C | CA509542766 | SLC52A3 | c.420C>G (p.Thr140=) n.471C>G | gnomAD v4 |
| 20 | g.765355G>T | CA509542768 | SLC52A3 | c.420C>A (p.Thr140=) n.471C>A | |
| 20 | g.765356G>A | CA407963873 | SLC52A3 | c.419C>T (p.Thr140Ile) n.470C>T | gnomAD v4 |
| 20 | g.765356G>C | CA407963874 | SLC52A3 | c.419C>G (p.Thr140Ser) n.470C>G | |
| 20 | g.765356G>T | CA407963875 | SLC52A3 | c.419C>A (p.Thr140Asn) n.470C>A | |
| 20 | g.765357T>A | CA407963876 | SLC52A3 | c.418A>T (p.Thr140Ser) n.469A>T | |
| 20 | g.765357T>C | CA407963877 | SLC52A3 | c.418A>G (p.Thr140Ala) n.469A>G | |
| 20 | g.765357T>G | CA407963878 | SLC52A3 | c.418A>C (p.Thr140Pro) n.469A>C | |
| 20 | g.765358G>A | CA310679111 | SLC52A3 | c.417C>T (p.Thr139=) n.468C>T | dbSNP gnomAD v4 |
| 20 | g.765358G>C | CA509542771 | SLC52A3 | c.417C>G (p.Thr139=) n.468C>G | |
| 20 | g.765358G= | CA2345350114 | SLC52A3 | c.417C= (p.Thr139=) n.468C= | |
| 20 | g.765358G>T | CA509542769 | SLC52A3 | c.417C>A (p.Thr139=) n.468C>A | |
| 20 | g.765359G>A | CA407963879 | SLC52A3 | c.416C>T (p.Thr139Ile) n.467C>T | dbSNP gnomAD v2 |
| 20 | g.765359G>C | CA407963880 | SLC52A3 | c.416C>G (p.Thr139Ser) n.467C>G | |
| 20 | g.765359G= | CA2345350115 | SLC52A3 | c.416C= (p.Thr139=) n.467C= | |
| 20 | g.765359G>T | CA407963881 | SLC52A3 | c.416C>A (p.Thr139Asn) n.467C>A | |
| 20 | g.765360T>A | CA407963884 | SLC52A3 | c.415A>T (p.Thr139Ser) n.466A>T | |
| 20 | g.765360T>C | CA407963882 | SLC52A3 | c.415A>G (p.Thr139Ala) n.466A>G | gnomAD v4 |
| 20 | g.765360T>G | CA407963883 | SLC52A3 | c.415A>C (p.Thr139Pro) n.466A>C | |
| 20 | g.765361G>A | CA509542773 | SLC52A3 | c.414C>T (p.Leu138=) n.465C>T | dbSNP gnomAD v4 |
| 20 | g.765361G>C | CA310679117 | SLC52A3 | c.414C>G (p.Leu138=) n.465C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765361G= | CA2345350116 | SLC52A3 | c.414C= (p.Leu138=) n.465C= | |
| 20 | g.765361G>T | CA310679134 | SLC52A3 | c.414C>A (p.Leu138=) n.465C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765362A>C | CA407963885 | SLC52A3 | c.413T>G (p.Leu138Arg) n.464T>G | |
| 20 | g.765362A>G | CA407963886 | SLC52A3 | c.413T>C (p.Leu138Pro) n.464T>C | |
| 20 | g.765362A>T | CA407963887 | SLC52A3 | c.413T>A (p.Leu138His) n.464T>A | |
| 20 | g.765363G>A | CA407963888 | SLC52A3 | c.412C>T (p.Leu138Phe) n.463C>T | gnomAD v4 |
| 20 | g.765363G>C | CA407963889 | SLC52A3 | c.412C>G (p.Leu138Val) n.463C>G | |
| 20 | g.765363G>T | CA407963890 | SLC52A3 | c.412C>A (p.Leu138Ile) n.463C>A | |
| 20 | g.765364G>A | CA9724786 | SLC52A3 | c.411C>T (p.Tyr137=) n.462C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 20 | g.765364G>C | CA407963891 | SLC52A3 | c.411C>G (p.Tyr137Ter) n.462C>G | |
| 20 | g.765364G= | CA2345350117 | SLC52A3 | c.411C= (p.Tyr137=) n.462C= | |
| 20 | g.765364G>T | CA407963892 | SLC52A3 | c.411C>A (p.Tyr137Ter) n.462C>A | |
| 20 | g.765365T>A | CA407963895 | SLC52A3 | c.410A>T (p.Tyr137Phe) n.461A>T | |
| 20 | g.765365T>C | CA407963894 | SLC52A3 | c.410A>G (p.Tyr137Cys) n.461A>G | |
| 20 | g.765365T>G | CA407963893 | SLC52A3 | c.410A>C (p.Tyr137Ser) n.461A>C | |
| 20 | g.765366A>C | CA407963896 | SLC52A3 | c.409T>G (p.Tyr137Asp) n.460T>G | |
| 20 | g.765366A>G | CA407963897 | SLC52A3 | c.409T>C (p.Tyr137His) n.460T>C | gnomAD v4 |
| 20 | g.765366A>T | CA407963898 | SLC52A3 | c.409T>A (p.Tyr137Asn) n.460T>A | |
| 20 | g.765367G>A | CA9724787 | SLC52A3 | c.408C>T (p.Tyr136=) n.459C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765367G>C | CA310679163 | SLC52A3 | c.408C>G (p.Tyr136Ter) n.459C>G | ClinVar dbSNP |
| 20 | g.765367G= | CA2345350118 | SLC52A3 | c.408C= (p.Tyr136=) n.459C= | |
| 20 | g.765367G>T | CA407963899 | SLC52A3 | c.408C>A (p.Tyr136Ter) n.459C>A | |
| 20 | g.765368T>A | CA407963900 | SLC52A3 | c.407A>T (p.Tyr136Phe) n.458A>T | |
| 20 | g.765368T>C | CA407963901 | SLC52A3 | c.407A>G (p.Tyr136Cys) n.458A>G | |
| 20 | g.765368T>G | CA407963902 | SLC52A3 | c.407A>C (p.Tyr136Ser) n.458A>C | |
| 20 | g.765369A>C | CA407963903 | SLC52A3 | c.406T>G (p.Tyr136Asp) n.457T>G | |
| 20 | g.765369A>G | CA407963904 | SLC52A3 | c.406T>C (p.Tyr136His) n.457T>C | |
| 20 | g.765369A>T | CA407963905 | SLC52A3 | c.406T>A (p.Tyr136Asn) n.457T>A | |
| 20 | g.765370G>A | CA509542778 | SLC52A3 | c.405C>T (p.Thr135=) n.456C>T | |
| 20 | g.765370G>C | CA509542779 | SLC52A3 | c.405C>G (p.Thr135=) n.456C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765370G= | CA2345350119 | SLC52A3 | c.405C= (p.Thr135=) n.456C= | |
| 20 | g.765370G>T | CA509542780 | SLC52A3 | c.405C>A (p.Thr135=) n.456C>A | |
| 20 | g.765371G>A | CA407963908 | SLC52A3 | c.404C>T (p.Thr135Ile) n.455C>T | gnomAD v4 |
| 20 | g.765371G>C | CA407963906 | SLC52A3 | c.404C>G (p.Thr135Ser) n.455C>G | |
| 20 | g.765371G>T | CA407963907 | SLC52A3 | c.404C>A (p.Thr135Asn) n.455C>A | |
| 20 | g.765372T>A | CA407963909 | SLC52A3 | c.403A>T (p.Thr135Ser) n.454A>T | |
| 20 | g.765372T>C | CA346999 | SLC52A3 | c.403A>G (p.Thr135Ala) n.454A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765372T>G | CA407963910 | SLC52A3 | c.403A>C (p.Thr135Pro) n.454A>C | |
| 20 | g.765372T= | CA2345350120 | SLC52A3 | c.403A= (p.Thr135=) n.454A= | |
| 20 | g.765373G>A | CA509542786 | SLC52A3 | c.402C>T (p.Pro134=) n.453C>T | |
| 20 | g.765373G>C | CA509542787 | SLC52A3 | c.402C>G (p.Pro134=) n.453C>G | |
| 20 | g.765373G>T | CA509542785 | SLC52A3 | c.402C>A (p.Pro134=) n.453C>A | |
| 20 | g.765374G>A | CA407963911 | SLC52A3 | c.401C>T (p.Pro134Leu) n.452C>T | |
| 20 | g.765374G>C | CA407963912 | SLC52A3 | c.401C>G (p.Pro134Arg) n.452C>G | dbSNP |
| 20 | g.765374G= | CA2345350121 | SLC52A3 | c.401C= (p.Pro134=) n.452C= | |
| 20 | g.765374G>T | CA407963913 | SLC52A3 | c.401C>A (p.Pro134His) n.452C>A | |
| 20 | g.765375G>A | CA407963914 | SLC52A3 | c.400C>T (p.Pro134Ser) n.451C>T | |
| 20 | g.765375G>C | CA407963915 | SLC52A3 | c.400C>G (p.Pro134Ala) n.451C>G | |
| 20 | g.765375G>T | CA407963916 | SLC52A3 | c.400C>A (p.Pro134Thr) n.451C>A | |
| 20 | g.765376C>A | CA509542793 | SLC52A3 | c.399G>T (p.Leu133=) n.450G>T | |
| 20 | g.765376C>G | CA509542791 | SLC52A3 | c.399G>C (p.Leu133=) n.450G>C | |
| 20 | g.765376C>T | CA509542792 | SLC52A3 | c.399G>A (p.Leu133=) n.450G>A | |
| 20 | g.765377A>C | CA407963917 | SLC52A3 | c.398T>G (p.Leu133Arg) n.449T>G | |
| 20 | g.765377A>G | CA407963918 | SLC52A3 | c.398T>C (p.Leu133Pro) n.449T>C | |
| 20 | g.765377A>T | CA407963919 | SLC52A3 | c.398T>A (p.Leu133Gln) n.449T>A | |
| 20 | g.765378G>A | CA509542797 | SLC52A3 | c.397C>T (p.Leu133=) n.448C>T | |
| 20 | g.765378G>C | CA407963921 | SLC52A3 | c.397C>G (p.Leu133Val) n.448C>G | |
| 20 | g.765378G>T | CA407963920 | SLC52A3 | c.397C>A (p.Leu133Met) n.448C>A | |
| 20 | g.765379C>A | CA509542799 | SLC52A3 | c.396G>T (p.Arg132=) n.447G>T | |
| 20 | g.765379C>G | CA509542800 | SLC52A3 | c.396G>C (p.Arg132=) n.447G>C | |
| 20 | g.765379C>T | CA509542798 | SLC52A3 | c.396G>A (p.Arg132=) n.447G>A | |
| 20 | g.765380C>A | CA407963922 | SLC52A3 | c.395G>T (p.Arg132Leu) n.446G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765380C= | CA2345350122 | SLC52A3 | c.395G= (p.Arg132=) n.446G= | |
| 20 | g.765380C>G | CA407963923 | SLC52A3 | c.395G>C (p.Arg132Pro) n.446G>C | |
| 20 | g.765380C>T | CA9724788 | SLC52A3 | c.395G>A (p.Arg132Gln) n.446G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765381G>A | CA339794 | SLC52A3 | c.394C>T (p.Arg132Trp) n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765381G>C | CA407963924 | SLC52A3 | c.394C>G (p.Arg132Gly) n.445C>G | |
| 20 | g.765381G= | CA2345350123 | SLC52A3 | c.394C= (p.Arg132=) n.445C= | |
| 20 | g.765381G>T | CA509542805 | SLC52A3 | c.394C>A (p.Arg132=) n.445C>A | ClinVar dbSNP |
| 20 | g.765382del | CA2651547885 | SLC52A3 | c.394del (p.Arg132GlyfsTer?) n.445del | gnomAD v4 |
| 20 | g.765382G>A | CA509542808 | SLC52A3 | c.393C>T (p.Ser131=) n.444C>T | |
| 20 | g.765382G>C | CA407963925 | SLC52A3 | c.393C>G (p.Ser131Arg) n.444C>G | |
| 20 | g.765382G>T | CA407963926 | SLC52A3 | c.393C>A (p.Ser131Arg) n.444C>A | COSMIC |
| 20 | g.765383C>A | CA407963927 | SLC52A3 | c.392G>T (p.Ser131Ile) n.443G>T | |
| 20 | g.765383C>G | CA407963928 | SLC52A3 | c.392G>C (p.Ser131Thr) n.443G>C | |
| 20 | g.765383C>T | CA407963929 | SLC52A3 | c.392G>A (p.Ser131Asn) n.443G>A | gnomAD v4 |
| 20 | g.765384T>A | CA407963930 | SLC52A3 | c.391A>T (p.Ser131Cys) n.442A>T | |
| 20 | g.765384T>C | CA407963931 | SLC52A3 | c.391A>G (p.Ser131Gly) n.442A>G | |
| 20 | g.765384T>G | CA407963932 | SLC52A3 | c.391A>C (p.Ser131Arg) n.442A>C | |
| 20 | g.765385C>A | CA407963933 | SLC52A3 | c.390G>T (p.Met130Ile) n.441G>T | |
| 20 | g.765385C= | CA2345350124 | SLC52A3 | c.390G= (p.Met130=) n.441G= | |
| 20 | g.765385C>G | CA407963934 | SLC52A3 | c.390G>C (p.Met130Ile) n.441G>C | |
| 20 | g.765385C>T | CA407963935 | SLC52A3 | c.390G>A (p.Met130Ile) n.441G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765386A>C | CA407963936 | SLC52A3 | c.389T>G (p.Met130Arg) n.440T>G | |
| 20 | g.765386A>G | CA407963938 | SLC52A3 | c.389T>C (p.Met130Thr) n.440T>C | |
| 20 | g.765386A>T | CA407963937 | SLC52A3 | c.389T>A (p.Met130Lys) n.440T>A | |
| 20 | g.765387T>A | CA407963939 | SLC52A3 | c.388A>T (p.Met130Leu) n.439A>T | |
| 20 | g.765387T>C | CA407963940 | SLC52A3 | c.388A>G (p.Met130Val) n.439A>G | |
| 20 | g.765387T>G | CA407963941 | SLC52A3 | c.388A>C (p.Met130Leu) n.439A>C | |
| 20 | g.765388G>A | CA509542813 | SLC52A3 | c.387C>T (p.Phe129=) n.438C>T | COSMIC COSMIC |
| 20 | g.765388G>C | CA407963942 | SLC52A3 | c.387C>G (p.Phe129Leu) n.438C>G | |
| 20 | g.765388G>T | CA407963943 | SLC52A3 | c.387C>A (p.Phe129Leu) n.438C>A | |
| 20 | g.765389A>C | CA407963944 | SLC52A3 | c.386T>G (p.Phe129Cys) n.437T>G | |
| 20 | g.765389A>G | CA407963945 | SLC52A3 | c.386T>C (p.Phe129Ser) n.437T>C | |
| 20 | g.765389A>T | CA407963946 | SLC52A3 | c.386T>A (p.Phe129Tyr) n.437T>A | |
| 20 | g.765390A>C | CA407963947 | SLC52A3 | c.385T>G (p.Phe129Val) n.436T>G | |
| 20 | g.765390A>G | CA407963948 | SLC52A3 | c.385T>C (p.Phe129Leu) n.436T>C | |
| 20 | g.765390A>T | CA407963949 | SLC52A3 | c.385T>A (p.Phe129Ile) n.436T>A | |
| 20 | g.765391C>A | CA509542816 | SLC52A3 | c.384G>T (p.Pro128=) n.435G>T | gnomAD v4 |
| 20 | g.765391C= | CA2345350125 | SLC52A3 | c.384G= (p.Pro128=) n.435G= | |
| 20 | g.765391C>G | CA509542817 | SLC52A3 | c.384G>C (p.Pro128=) n.435G>C | |
| 20 | g.765391C>T | CA9724789 | SLC52A3 | c.384G>A (p.Pro128=) n.435G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765392G>A | CA310679172 | SLC52A3 | c.383C>T (p.Pro128Leu) n.434C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765392G>C | CA407963950 | SLC52A3 | c.383C>G (p.Pro128Arg) n.434C>G | |
| 20 | g.765392G= | CA2345350126 | SLC52A3 | c.383C= (p.Pro128=) n.434C= | |
| 20 | g.765392G>T | CA407963951 | SLC52A3 | c.383C>A (p.Pro128Gln) n.434C>A | |
| 20 | g.765393G>A | CA407963952 | SLC52A3 | c.382C>T (p.Pro128Ser) n.433C>T | |
| 20 | g.765393G>C | CA407963953 | SLC52A3 | c.382C>G (p.Pro128Ala) n.433C>G | |
| 20 | g.765393G>T | CA407963954 | SLC52A3 | c.382C>A (p.Pro128Thr) n.433C>A | gnomAD v4 |