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 |
|---|---|---|---|---|---|
| X | g.119837773T>A | CA414182769 | UPF3B | c.1286A>T (p.Asp429Val) c.160A>T c.1247A>T (p.Asp416Val) c.*126A>T (n.*126A>T) | |
| X | g.119837773T>C | CA16621186 | UPF3B | c.1286A>G (p.Asp429Gly) c.160A>G c.1247A>G (p.Asp416Gly) c.*126A>G (n.*126A>G) | ClinVar dbSNP |
| X | g.119837773T>G | CA414182770 | UPF3B | c.1286A>C (p.Asp429Ala) c.160A>C c.1247A>C (p.Asp416Ala) c.*126A>C (n.*126A>C) | |
| X | g.119837773T= | CA2454680444 | UPF3B | c.1286A= (p.Asp429=) c.160A= c.1247A= (p.Asp416=) c.*126A= (n.*126A=) | |
| X | g.119837774C>A | CA414182771 | UPF3B | c.1285G>T (p.Asp429Tyr) c.159G>T c.1246G>T (p.Asp416Tyr) c.*125G>T (n.*125G>T) | |
| X | g.119837774C>G | CA414182772 | UPF3B | c.1285G>C (p.Asp429His) c.159G>C c.1246G>C (p.Asp416His) c.*125G>C (n.*125G>C) | |
| X | g.119837774C>T | CA414182773 | UPF3B | c.1285G>A (p.Asp429Asn) c.159G>A c.1246G>A (p.Asp416Asn) c.*125G>A (n.*125G>A) | |
| X | g.119837775T>A | CA414182774 | UPF3B | c.1284A>T (p.Arg428Ser) c.158A>T c.1245A>T (p.Arg415Ser) c.*124A>T (n.*124A>T) | |
| X | g.119837775T>C | CA518446738 | UPF3B | c.1284A>G (p.Arg428=) c.158A>G c.1245A>G (p.Arg415=) c.*124A>G (n.*124A>G) | |
| X | g.119837775T>G | CA414182775 | UPF3B | c.1284A>C (p.Arg428Ser) c.158A>C c.1245A>C (p.Arg415Ser) c.*124A>C (n.*124A>C) | |
| X | g.119837776C>A | CA414182776 | UPF3B | c.1283G>T (p.Arg428Ile) c.157G>T c.1244G>T (p.Arg415Ile) c.*123G>T (n.*123G>T) | |
| X | g.119837776C= | CA2454680445 | UPF3B | c.1283G= (p.Arg428=) c.157G= c.1244G= (p.Arg415=) c.*123G= (n.*123G=) | |
| X | g.119837776C>G | CA414182778 | UPF3B | c.1283G>C (p.Arg428Thr) c.157G>C c.1244G>C (p.Arg415Thr) c.*123G>C (n.*123G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.119837776C>T | CA414182777 | UPF3B | c.1283G>A (p.Arg428Lys) c.157G>A c.1244G>A (p.Arg415Lys) c.*123G>A (n.*123G>A) | |
| X | g.119837777T>A | CA414182779 | UPF3B | c.1282A>T (p.Arg428Ter) c.156A>T c.1243A>T (p.Arg415Ter) c.*122A>T (n.*122A>T) | |
| X | g.119837777T>C | CA414182780 | UPF3B | c.1282A>G (p.Arg428Gly) c.156A>G c.1243A>G (p.Arg415Gly) c.*122A>G (n.*122A>G) | |
| X | g.119837777T>G | CA518446743 | UPF3B | c.1282A>C (p.Arg428=) c.156A>C c.1243A>C (p.Arg415=) c.*122A>C (n.*122A>C) | |
| X | g.119837778C>A | CA414182781 | UPF3B | c.1281G>T (p.Lys427Asn) c.155G>T c.1242G>T (p.Lys414Asn) c.*121G>T (n.*121G>T) | |
| X | g.119837778C= | CA2454680446 | UPF3B | c.1281G= (p.Lys427=) c.155G= c.1242G= (p.Lys414=) c.*121G= (n.*121G=) | |
| X | g.119837778C>G | CA414182782 | UPF3B | c.1281G>C (p.Lys427Asn) c.155G>C c.1242G>C (p.Lys414Asn) c.*121G>C (n.*121G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837778C>T | CA518446745 | UPF3B | c.1281G>A (p.Lys427=) c.155G>A c.1242G>A (p.Lys414=) c.*121G>A (n.*121G>A) | |
| X | g.119837779T>A | CA414182783 | UPF3B | c.1280A>T (p.Lys427Met) c.154A>T c.1241A>T (p.Lys414Met) c.*120A>T (n.*120A>T) | |
| X | g.119837779T>C | CA414182784 | UPF3B | c.1280A>G (p.Lys427Arg) c.154A>G c.1241A>G (p.Lys414Arg) c.*120A>G (n.*120A>G) | gnomAD v4 |
| X | g.119837779T>G | CA414182785 | UPF3B | c.1280A>C (p.Lys427Thr) c.154A>C c.1241A>C (p.Lys414Thr) c.*120A>C (n.*120A>C) | |
| X | g.119837780T>A | CA414182786 | UPF3B | c.1279A>T (p.Lys427Ter) c.153A>T c.1240A>T (p.Lys414Ter) c.*119A>T (n.*119A>T) | |
| X | g.119837780T>C | CA414182787 | UPF3B | c.1279A>G (p.Lys427Glu) c.153A>G c.1240A>G (p.Lys414Glu) c.*119A>G (n.*119A>G) | |
| X | g.119837780T>G | CA414182788 | UPF3B | c.1279A>C (p.Lys427Gln) c.153A>C c.1240A>C (p.Lys414Gln) c.*119A>C (n.*119A>C) | |
| X | g.119837781G>A | CA518446758 | UPF3B | c.1278C>T (p.Val426=) c.152C>T c.1239C>T (p.Val413=) c.*118C>T (n.*118C>T) | |
| X | g.119837781G>C | CA518446761 | UPF3B | c.1278C>G (p.Val426=) c.152C>G c.1239C>G (p.Val413=) c.*118C>G (n.*118C>G) | |
| X | g.119837781G>T | CA518446759 | UPF3B | c.1278C>A (p.Val426=) c.152C>A c.1239C>A (p.Val413=) c.*118C>A (n.*118C>A) | gnomAD v4 |
| X | g.119837782A>C | CA414182789 | UPF3B | c.1277T>G (p.Val426Gly) c.151T>G c.1238T>G (p.Val413Gly) c.*117T>G (n.*117T>G) | |
| X | g.119837782A>G | CA414182790 | UPF3B | c.1277T>C (p.Val426Ala) c.151T>C c.1238T>C (p.Val413Ala) c.*117T>C (n.*117T>C) | |
| X | g.119837782A>T | CA414182791 | UPF3B | c.1277T>A (p.Val426Asp) c.151T>A c.1238T>A (p.Val413Asp) c.*117T>A (n.*117T>A) | |
| X | g.119837783C>A | CA414182794 | UPF3B | c.1276G>T (p.Val426Phe) c.150G>T c.1237G>T (p.Val413Phe) c.*116G>T (n.*116G>T) | |
| X | g.119837783C>G | CA414182792 | UPF3B | c.1276G>C (p.Val426Leu) c.150G>C c.1237G>C (p.Val413Leu) c.*116G>C (n.*116G>C) | |
| X | g.119837783C>T | CA414182793 | UPF3B | c.1276G>A (p.Val426Ile) c.150G>A c.1237G>A (p.Val413Ile) c.*116G>A (n.*116G>A) | gnomAD v4 |
| X | g.119837784C>A | CA518446770 | UPF3B | c.1275G>T (p.Val425=) c.149G>T c.1236G>T (p.Val412=) c.*115G>T (n.*115G>T) | |
| X | g.119837784C= | CA2454680447 | UPF3B | c.1275G= (p.Val425=) c.149G= c.1236G= (p.Val412=) c.*115G= (n.*115G=) | |
| X | g.119837784C>G | CA518446771 | UPF3B | c.1275G>C (p.Val425=) c.149G>C c.1236G>C (p.Val412=) c.*115G>C (n.*115G>C) | ClinVar dbSNP |
| X | g.119837784C>T | CA518446773 | UPF3B | c.1275G>A (p.Val425=) c.149G>A c.1236G>A (p.Val412=) c.*115G>A (n.*115G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.119837785A>C | CA414182795 | UPF3B | c.1274T>G (p.Val425Gly) c.148T>G c.1235T>G (p.Val412Gly) c.*114T>G (n.*114T>G) | |
| X | g.119837785A>G | CA414182796 | UPF3B | c.1274T>C (p.Val425Ala) c.148T>C c.1235T>C (p.Val412Ala) c.*114T>C (n.*114T>C) | |
| X | g.119837785A>T | CA414182797 | UPF3B | c.1274T>A (p.Val425Glu) c.148T>A c.1235T>A (p.Val412Glu) c.*114T>A (n.*114T>A) | |
| X | g.119837785_119837788delinsACTT | CA2454680448 | UPF3B | c.1271_1274delinsAAGT (p.Glu424=) c.145_148delinsAAGT c.1232_1235delinsAAGT (p.Glu411=) c.*111_*114delinsAAGT (n.*111_*114delinsAAGT) | |
| X | g.119837786C>A | CA414182798 | UPF3B | c.1273G>T (p.Val425Leu) c.147G>T c.1234G>T (p.Val412Leu) c.*113G>T (n.*113G>T) | |
| X | g.119837786C>G | CA414182799 | UPF3B | c.1273G>C (p.Val425Leu) c.147G>C c.1234G>C (p.Val412Leu) c.*113G>C (n.*113G>C) | gnomAD v4 |
| X | g.119837786C>T | CA414182800 | UPF3B | c.1273G>A (p.Val425Met) c.147G>A c.1234G>A (p.Val412Met) c.*113G>A (n.*113G>A) | |
| X | g.119837792_119837794del | CA645604800 | UPF3B | c.1271_1273del (p.Glu424del) c.145_147del c.1232_1234del (p.Glu411del) c.*111_*113del (n.*111_*113del) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.119837787T>A | CA414182801 | UPF3B | c.1272A>T (p.Glu424Asp) c.146A>T c.1233A>T (p.Glu411Asp) c.*112A>T (n.*112A>T) | |
| X | g.119837787T>C | CA518446780 | UPF3B | c.1272A>G (p.Glu424=) c.146A>G c.1233A>G (p.Glu411=) c.*112A>G (n.*112A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837787T>G | CA414182802 | UPF3B | c.1272A>C (p.Glu424Asp) c.146A>C c.1233A>C (p.Glu411Asp) c.*112A>C (n.*112A>C) | |
| X | g.119837787T= | CA2454680449 | UPF3B | c.1272A= (p.Glu424=) c.146A= c.1233A= (p.Glu411=) c.*112A= (n.*112A=) | |
| X | g.119837788T>A | CA414182803 | UPF3B | c.1271A>T (p.Glu424Val) c.145A>T c.1232A>T (p.Glu411Val) c.*111A>T (n.*111A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837788T>C | CA414182804 | UPF3B | c.1271A>G (p.Glu424Gly) c.145A>G c.1232A>G (p.Glu411Gly) c.*111A>G (n.*111A>G) | |
| X | g.119837788T>G | CA414182805 | UPF3B | c.1271A>C (p.Glu424Ala) c.145A>C c.1232A>C (p.Glu411Ala) c.*111A>C (n.*111A>C) | |
| X | g.119837788T= | CA2454680450 | UPF3B | c.1271A= (p.Glu424=) c.145A= c.1232A= (p.Glu411=) c.*111A= (n.*111A=) | |
| X | g.119837789C>A | CA414182808 | UPF3B | c.1270G>T (p.Glu424Ter) c.144G>T c.1231G>T (p.Glu411Ter) c.*110G>T (n.*110G>T) | |
| X | g.119837789C>G | CA414182807 | UPF3B | c.1270G>C (p.Glu424Gln) c.144G>C c.1231G>C (p.Glu411Gln) c.*110G>C (n.*110G>C) | |
| X | g.119837789C>T | CA414182806 | UPF3B | c.1270G>A (p.Glu424Lys) c.144G>A c.1231G>A (p.Glu411Lys) c.*110G>A (n.*110G>A) | |
| X | g.119837790T>A | CA414182809 | UPF3B | c.1269A>T (p.Glu423Asp) c.143A>T c.1230A>T (p.Glu410Asp) c.*109A>T (n.*109A>T) | |
| X | g.119837790T>C | CA518446789 | UPF3B | c.1269A>G (p.Glu423=) c.143A>G c.1230A>G (p.Glu410=) c.*109A>G (n.*109A>G) | |
| X | g.119837790T>G | CA414182810 | UPF3B | c.1269A>C (p.Glu423Asp) c.143A>C c.1230A>C (p.Glu410Asp) c.*109A>C (n.*109A>C) | |
| X | g.119837791T>A | CA414182811 | UPF3B | c.1268A>T (p.Glu423Val) c.142A>T c.1229A>T (p.Glu410Val) c.*108A>T (n.*108A>T) | |
| X | g.119837791T>C | CA414182812 | UPF3B | c.1268A>G (p.Glu423Gly) c.142A>G c.1229A>G (p.Glu410Gly) c.*108A>G (n.*108A>G) | |
| X | g.119837791T>G | CA414182813 | UPF3B | c.1268A>C (p.Glu423Ala) c.142A>C c.1229A>C (p.Glu410Ala) c.*108A>C (n.*108A>C) | |
| X | g.119837792C>A | CA414182816 | UPF3B | c.1267G>T (p.Glu423Ter) c.141G>T c.1228G>T (p.Glu410Ter) c.*107G>T (n.*107G>T) | |
| X | g.119837792C>G | CA414182815 | UPF3B | c.1267G>C (p.Glu423Gln) c.141G>C c.1228G>C (p.Glu410Gln) c.*107G>C (n.*107G>C) | |
| X | g.119837792C>T | CA414182814 | UPF3B | c.1267G>A (p.Glu423Lys) c.141G>A c.1228G>A (p.Glu410Lys) c.*107G>A (n.*107G>A) | |
| X | g.119837792_119837795delinsCTTT | CA2454680451 | UPF3B | c.1264_1267delinsAAAG (p.Lys422=) c.138_141delinsAAAG c.1225_1228delinsAAAG (p.Lys409=) c.*104_*107delinsAAAG (n.*104_*107delinsAAAG) | |
| X | g.119837793T>A | CA414182817 | UPF3B | c.1266A>T (p.Lys422Asn) c.140A>T c.1227A>T (p.Lys409Asn) c.*106A>T (n.*106A>T) | |
| X | g.119837793T>C | CA518446811 | UPF3B | c.1266A>G (p.Lys422=) c.140A>G c.1227A>G (p.Lys409=) c.*106A>G (n.*106A>G) | |
| X | g.119837793T>G | CA414182818 | UPF3B | c.1266A>C (p.Lys422Asn) c.140A>C c.1227A>C (p.Lys409Asn) c.*106A>C (n.*106A>C) | |
| X | g.119837793_119837795del | CA10503161 | UPF3B | c.1264_1266del (p.Lys422del) c.138_140del c.1225_1227del (p.Lys409del) c.*104_*106del (n.*104_*106del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119837794T>A | CA414182819 | UPF3B | c.1265A>T (p.Lys422Ile) c.139A>T c.1226A>T (p.Lys409Ile) c.*105A>T (n.*105A>T) | |
| X | g.119837794T>C | CA334123318 | UPF3B | c.1265A>G (p.Lys422Arg) c.139A>G c.1226A>G (p.Lys409Arg) c.*105A>G (n.*105A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837794T>G | CA414182820 | UPF3B | c.1265A>C (p.Lys422Thr) c.139A>C c.1226A>C (p.Lys409Thr) c.*105A>C (n.*105A>C) | |
| X | g.119837794T= | CA2454680452 | UPF3B | c.1265A= (p.Lys422=) c.139A= c.1226A= (p.Lys409=) c.*105A= (n.*105A=) | |
| X | g.119837796_119837798del | CA2695197180 | UPF3B | c.1263_1265del (p.Lys422del) c.137_139del c.1224_1226del (p.Lys409del) c.*103_*105del (n.*103_*105del) | ClinVar |
| X | g.119837795T>A | CA414182821 | UPF3B | c.1264A>T (p.Lys422Ter) c.138A>T c.1225A>T (p.Lys409Ter) c.*104A>T (n.*104A>T) | |
| X | g.119837795T>C | CA414182823 | UPF3B | c.1264A>G (p.Lys422Glu) c.138A>G c.1225A>G (p.Lys409Glu) c.*104A>G (n.*104A>G) | gnomAD v4 |
| X | g.119837795T>G | CA414182822 | UPF3B | c.1264A>C (p.Lys422Gln) c.138A>C c.1225A>C (p.Lys409Gln) c.*104A>C (n.*104A>C) | |
| X | g.119837796C>A | CA414182824 | UPF3B | c.1263G>T (p.Lys421Asn) c.137G>T c.1224G>T (p.Lys408Asn) c.*103G>T (n.*103G>T) | |
| X | g.119837796C>G | CA414182825 | UPF3B | c.1263G>C (p.Lys421Asn) c.137G>C c.1224G>C (p.Lys408Asn) c.*103G>C (n.*103G>C) | |
| X | g.119837796C>T | CA518446827 | UPF3B | c.1263G>A (p.Lys421=) c.137G>A c.1224G>A (p.Lys408=) c.*103G>A (n.*103G>A) | gnomAD v4 |
| X | g.119837796_119837800delinsCTTTT | CA2454680453 | UPF3B | c.1259_1263delinsAAAAG (p.Glu420=) c.133_137delinsAAAAG c.1220_1224delinsAAAAG (p.Glu407=) c.*99_*103delinsAAAAG (n.*99_*103delinsAAAAG) | |
| X | g.119837797T>A | CA414182826 | UPF3B | c.1262A>T (p.Lys421Met) c.136A>T c.1223A>T (p.Lys408Met) c.*102A>T (n.*102A>T) | |
| X | g.119837797T>C | CA414182827 | UPF3B | c.1262A>G (p.Lys421Arg) c.136A>G c.1223A>G (p.Lys408Arg) c.*102A>G (n.*102A>G) | gnomAD v4 |
| X | g.119837797T>G | CA414182828 | UPF3B | c.1262A>C (p.Lys421Thr) c.136A>C c.1223A>C (p.Lys408Thr) c.*102A>C (n.*102A>C) | |
| X | g.119837797_119837800del | CA1136774696 | UPF3B | c.1259_1262del (p.Glu420GlyfsTer11) c.133_136del c.1220_1223del (p.Glu407GlyfsTer11) c.*99_*102del (n.*99_*102del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837798T>A | CA414182829 | UPF3B | c.1261A>T (p.Lys421Ter) c.135A>T c.1222A>T (p.Lys408Ter) c.*101A>T (n.*101A>T) | |
| X | g.119837798T>C | CA414182830 | UPF3B | c.1261A>G (p.Lys421Glu) c.135A>G c.1222A>G (p.Lys408Glu) c.*101A>G (n.*101A>G) | |
| X | g.119837798T>G | CA414182831 | UPF3B | c.1261A>C (p.Lys421Gln) c.135A>C c.1222A>C (p.Lys408Gln) c.*101A>C (n.*101A>C) | |
| X | g.119837799T>A | CA414182832 | UPF3B | c.1260A>T (p.Glu420Asp) c.134A>T c.1221A>T (p.Glu407Asp) c.*100A>T (n.*100A>T) | |
| X | g.119837799T>C | CA10503162 | UPF3B | c.1260A>G (p.Glu420=) c.134A>G c.1221A>G (p.Glu407=) c.*100A>G (n.*100A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.119837799T>G | CA414182833 | UPF3B | c.1260A>C (p.Glu420Asp) c.134A>C c.1221A>C (p.Glu407Asp) c.*100A>C (n.*100A>C) | ClinVar dbSNP gnomAD v4 |
| X | g.119837799T= | CA2454680454 | UPF3B | c.1260A= (p.Glu420=) c.134A= c.1221A= (p.Glu407=) c.*100A= (n.*100A=) | |
| X | g.119837800T>A | CA414182834 | UPF3B | c.1259A>T (p.Glu420Val) c.133A>T c.1220A>T (p.Glu407Val) c.*99A>T (n.*99A>T) | |
| X | g.119837800T>C | CA414182836 | UPF3B | c.1259A>G (p.Glu420Gly) c.133A>G c.1220A>G (p.Glu407Gly) c.*99A>G (n.*99A>G) | |
| X | g.119837800T>G | CA414182835 | UPF3B | c.1259A>C (p.Glu420Ala) c.133A>C c.1220A>C (p.Glu407Ala) c.*99A>C (n.*99A>C) | |
| X | g.119837801C>A | CA414182837 | UPF3B | c.1258G>T (p.Glu420Ter) c.132G>T c.1219G>T (p.Glu407Ter) c.*98G>T (n.*98G>T) | |
| X | g.119837801C>G | CA414182839 | UPF3B | c.1258G>C (p.Glu420Gln) c.132G>C c.1219G>C (p.Glu407Gln) c.*98G>C (n.*98G>C) | |
| X | g.119837801C>T | CA414182838 | UPF3B | c.1258G>A (p.Glu420Lys) c.132G>A c.1219G>A (p.Glu407Lys) c.*98G>A (n.*98G>A) | gnomAD v4 |
| X | g.119837802A= | CA2454680455 | UPF3B | c.1257T= (p.Thr419=) c.131T= c.1218T= (p.Thr406=) c.*97T= (n.*97T=) | |
| X | g.119837802A>C | CA518446848 | UPF3B | c.1257T>G (p.Thr419=) c.131T>G c.1218T>G (p.Thr406=) c.*97T>G (n.*97T>G) | |
| X | g.119837802A>G | CA10503163 | UPF3B | c.1257T>C (p.Thr419=) c.131T>C c.1218T>C (p.Thr406=) c.*97T>C (n.*97T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119837802A>T | CA518446847 | UPF3B | c.1257T>A (p.Thr419=) c.131T>A c.1218T>A (p.Thr406=) c.*97T>A (n.*97T>A) | |
| X | g.119837803G>A | CA414182840 | UPF3B | c.1256C>T (p.Thr419Ile) c.130C>T c.1217C>T (p.Thr406Ile) c.*96C>T (n.*96C>T) | |
| X | g.119837803G>C | CA414182841 | UPF3B | c.1256C>G (p.Thr419Ser) c.130C>G c.1217C>G (p.Thr406Ser) c.*96C>G (n.*96C>G) | |
| X | g.119837803G>T | CA414182842 | UPF3B | c.1256C>A (p.Thr419Asn) c.130C>A c.1217C>A (p.Thr406Asn) c.*96C>A (n.*96C>A) | |
| X | g.119837804T>A | CA414182843 | UPF3B | c.1255A>T (p.Thr419Ser) c.129A>T c.1216A>T (p.Thr406Ser) c.*95A>T (n.*95A>T) | dbSNP |
| X | g.119837804T>C | CA414182844 | UPF3B | c.1255A>G (p.Thr419Ala) c.129A>G c.1216A>G (p.Thr406Ala) c.*95A>G (n.*95A>G) | |
| X | g.119837804T>G | CA414182845 | UPF3B | c.1255A>C (p.Thr419Pro) c.129A>C c.1216A>C (p.Thr406Pro) c.*95A>C (n.*95A>C) | |
| X | g.119837804T= | CA2454680456 | UPF3B | c.1255A= (p.Thr419=) c.129A= c.1216A= (p.Thr406=) c.*95A= (n.*95A=) | |
| X | g.119837809dup | CA2580100256 | UPF3B | c.1255dup (p.Thr419AsnfsTer2) c.129dup c.1216dup (p.Thr406AsnfsTer2) c.*95dup (n.*95dup) | ClinVar |
| X | g.119837805T>A | CA414182846 | UPF3B | c.1254A>T (p.Lys418Asn) c.128A>T c.1215A>T (p.Lys405Asn) c.*94A>T (n.*94A>T) | |
| X | g.119837805T>C | CA518446853 | UPF3B | c.1254A>G (p.Lys418=) c.128A>G c.1215A>G (p.Lys405=) c.*94A>G (n.*94A>G) | |
| X | g.119837805T>G | CA414182847 | UPF3B | c.1254A>C (p.Lys418Asn) c.128A>C c.1215A>C (p.Lys405Asn) c.*94A>C (n.*94A>C) | |
| X | g.119837806T>A | CA414182848 | UPF3B | c.1253A>T (p.Lys418Ile) c.127A>T c.1214A>T (p.Lys405Ile) c.*93A>T (n.*93A>T) | |
| X | g.119837806T>C | CA414182849 | UPF3B | c.1253A>G (p.Lys418Arg) c.127A>G c.1214A>G (p.Lys405Arg) c.*93A>G (n.*93A>G) | |
| X | g.119837806T>G | CA414182850 | UPF3B | c.1253A>C (p.Lys418Thr) c.127A>C c.1214A>C (p.Lys405Thr) c.*93A>C (n.*93A>C) | |
| X | g.119837807T>A | CA414182853 | UPF3B | c.1252A>T (p.Lys418Ter) c.126A>T c.1213A>T (p.Lys405Ter) c.*92A>T (n.*92A>T) | |
| X | g.119837807T>C | CA414182851 | UPF3B | c.1252A>G (p.Lys418Glu) c.126A>G c.1213A>G (p.Lys405Glu) c.*92A>G (n.*92A>G) | |
| X | g.119837807T>G | CA414182852 | UPF3B | c.1252A>C (p.Lys418Gln) c.126A>C c.1213A>C (p.Lys405Gln) c.*92A>C (n.*92A>C) | |
| X | g.119837808T>A | CA414182854 | UPF3B | c.1251A>T (p.Glu417Asp) c.125A>T c.1212A>T (p.Glu404Asp) c.*91A>T (n.*91A>T) | |
| X | g.119837808T>C | CA518446856 | UPF3B | c.1251A>G (p.Glu417=) c.125A>G c.1212A>G (p.Glu404=) c.*91A>G (n.*91A>G) | |
| X | g.119837808T>G | CA414182855 | UPF3B | c.1251A>C (p.Glu417Asp) c.125A>C c.1212A>C (p.Glu404Asp) c.*91A>C (n.*91A>C) | gnomAD v4 |
| X | g.119837809T>A | CA414182856 | UPF3B | c.1250A>T (p.Glu417Val) c.124A>T c.1211A>T (p.Glu404Val) c.*90A>T (n.*90A>T) | |
| X | g.119837809T>C | CA414182857 | UPF3B | c.1250A>G (p.Glu417Gly) c.124A>G c.1211A>G (p.Glu404Gly) c.*90A>G (n.*90A>G) | gnomAD v4 |
| X | g.119837809T>G | CA414182858 | UPF3B | c.1250A>C (p.Glu417Ala) c.124A>C c.1211A>C (p.Glu404Ala) c.*90A>C (n.*90A>C) | |
| X | g.119837810C>A | CA414182859 | UPF3B | c.1249G>T (p.Glu417Ter) c.123G>T c.1210G>T (p.Glu404Ter) c.*89G>T (n.*89G>T) | |
| X | g.119837810C>G | CA414182860 | UPF3B | c.1249G>C (p.Glu417Gln) c.123G>C c.1210G>C (p.Glu404Gln) c.*89G>C (n.*89G>C) | |
| X | g.119837810C>T | CA414182861 | UPF3B | c.1249G>A (p.Glu417Lys) c.123G>A c.1210G>A (p.Glu404Lys) c.*89G>A (n.*89G>A) | |
| X | g.119837811T>A | CA518446864 | UPF3B | c.1248A>T (p.Ser416=) c.122A>T c.1209A>T (p.Ser403=) c.*88A>T (n.*88A>T) | |
| X | g.119837811T>C | CA518446865 | UPF3B | c.1248A>G (p.Ser416=) c.122A>G c.1209A>G (p.Ser403=) c.*88A>G (n.*88A>G) | dbSNP |
| X | g.119837811T>G | CA518446866 | UPF3B | c.1248A>C (p.Ser416=) c.122A>C c.1209A>C (p.Ser403=) c.*88A>C (n.*88A>C) | |
| X | g.119837811T= | CA2454680457 | UPF3B | c.1248A= (p.Ser416=) c.122A= c.1209A= (p.Ser403=) c.*88A= (n.*88A=) | |
| X | g.119837812G>A | CA414182862 | UPF3B | c.1247C>T (p.Ser416Leu) c.121C>T c.1208C>T (p.Ser403Leu) c.*87C>T (n.*87C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.119837812G>C | CA414182863 | UPF3B | c.1247C>G (p.Ser416Ter) c.121C>G c.1208C>G (p.Ser403Ter) c.*87C>G (n.*87C>G) | |
| X | g.119837812G= | CA2454680458 | UPF3B | c.1247C= (p.Ser416=) c.121C= c.1208C= (p.Ser403=) c.*87C= (n.*87C=) | |
| X | g.119837812G>T | CA414182864 | UPF3B | c.1247C>A (p.Ser416Ter) c.121C>A c.1208C>A (p.Ser403Ter) c.*87C>A (n.*87C>A) | |
| X | g.119837813A>C | CA414182867 | UPF3B | c.1246T>G (p.Ser416Ala) c.120T>G c.1207T>G (p.Ser403Ala) c.*86T>G (n.*86T>G) | |
| X | g.119837813A>G | CA414182866 | UPF3B | c.1246T>C (p.Ser416Pro) c.120T>C c.1207T>C (p.Ser403Pro) c.*86T>C (n.*86T>C) | |
| X | g.119837813A>T | CA414182865 | UPF3B | c.1246T>A (p.Ser416Thr) c.120T>A c.1207T>A (p.Ser403Thr) c.*86T>A (n.*86T>A) | |
| X | g.119837814G>A | CA518446870 | UPF3B | c.1245C>T (p.Ser415=) c.119C>T c.1206C>T (p.Ser402=) c.*85C>T (n.*85C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.119837814G>C | CA414182869 | UPF3B | c.1245C>G (p.Ser415Arg) c.119C>G c.1206C>G (p.Ser402Arg) c.*85C>G (n.*85C>G) | |
| X | g.119837814G= | CA2454680459 | UPF3B | c.1245C= (p.Ser415=) c.119C= c.1206C= (p.Ser402=) c.*85C= (n.*85C=) | |
| X | g.119837814G>T | CA414182868 | UPF3B | c.1245C>A (p.Ser415Arg) c.119C>A c.1206C>A (p.Ser402Arg) c.*85C>A (n.*85C>A) | |
| X | g.119837815C>A | CA414182870 | UPF3B | c.1244G>T (p.Ser415Ile) c.118G>T c.1205G>T (p.Ser402Ile) c.*84G>T (n.*84G>T) | |
| X | g.119837815C= | CA2454680460 | UPF3B | c.1244G= (p.Ser415=) c.118G= c.1205G= (p.Ser402=) c.*84G= (n.*84G=) | |
| X | g.119837815C>G | CA414182871 | UPF3B | c.1244G>C (p.Ser415Thr) c.118G>C c.1205G>C (p.Ser402Thr) c.*84G>C (n.*84G>C) | |
| X | g.119837815C>T | CA10503164 | UPF3B | c.1244G>A (p.Ser415Asn) c.118G>A c.1205G>A (p.Ser402Asn) c.*84G>A (n.*84G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119837816T>A | CA414182872 | UPF3B | c.1243A>T (p.Ser415Cys) c.117A>T c.1204A>T (p.Ser402Cys) c.*83A>T (n.*83A>T) | |
| X | g.119837816T>C | CA414182873 | UPF3B | c.1243A>G (p.Ser415Gly) c.117A>G c.1204A>G (p.Ser402Gly) c.*83A>G (n.*83A>G) | ClinVar |
| X | g.119837816T>G | CA414182874 | UPF3B | c.1243A>C (p.Ser415Arg) c.117A>C c.1204A>C (p.Ser402Arg) c.*83A>C (n.*83A>C) | |
| X | g.119837817G>A | CA518446878 | UPF3B | c.1242C>T (p.Gly414=) c.116C>T c.1203C>T (p.Gly401=) c.*82C>T (n.*82C>T) | |
| X | g.119837817G>C | CA518446879 | UPF3B | c.1242C>G (p.Gly414=) c.116C>G c.1203C>G (p.Gly401=) c.*82C>G (n.*82C>G) | |
| X | g.119837817G>T | CA518446883 | UPF3B | c.1242C>A (p.Gly414=) c.116C>A c.1203C>A (p.Gly401=) c.*82C>A (n.*82C>A) | COSMIC |
| X | g.119837818C>A | CA414182875 | UPF3B | c.1241G>T (p.Gly414Val) c.115G>T c.1202G>T (p.Gly401Val) c.*81G>T (n.*81G>T) | |
| X | g.119837818C>G | CA414182877 | UPF3B | c.1241G>C (p.Gly414Ala) c.115G>C c.1202G>C (p.Gly401Ala) c.*81G>C (n.*81G>C) | |
| X | g.119837818C>T | CA414182876 | UPF3B | c.1241G>A (p.Gly414Asp) c.115G>A c.1202G>A (p.Gly401Asp) c.*81G>A (n.*81G>A) | |
| X | g.119837818_119837820dup | CA2694575586 | UPF3B | c.1239_1241dup (p.Gly414_Ser415insGly) c.113_115dup c.1200_1202dup (p.Gly401_Ser402insGly) c.*79_*81dup (n.*79_*81dup) | gnomAD v4 |
| X | g.119837819C>A | CA414182878 | UPF3B | c.1240G>T (p.Gly414Cys) c.114G>T c.1201G>T (p.Gly401Cys) c.*80G>T (n.*80G>T) | |
| X | g.119837819C= | CA2454680461 | UPF3B | c.1240G= (p.Gly414=) c.114G= c.1201G= (p.Gly401=) c.*80G= (n.*80G=) | |
| X | g.119837819C>G | CA414182879 | UPF3B | c.1240G>C (p.Gly414Arg) c.114G>C c.1201G>C (p.Gly401Arg) c.*80G>C (n.*80G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837819C>T | CA414182880 | UPF3B | c.1240G>A (p.Gly414Ser) c.114G>A c.1201G>A (p.Gly401Ser) c.*80G>A (n.*80G>A) | dbSNP |
| X | g.119837820T>A | CA518446887 | UPF3B | c.1239A>T (p.Ile413=) c.113A>T c.1200A>T (p.Ile400=) c.*79A>T (n.*79A>T) | |
| X | g.119837820T>C | CA414182881 | UPF3B | c.1239A>G (p.Ile413Met) c.113A>G c.1200A>G (p.Ile400Met) c.*79A>G (n.*79A>G) | |
| X | g.119837820T>G | CA518446888 | UPF3B | c.1239A>C (p.Ile413=) c.113A>C c.1200A>C (p.Ile400=) c.*79A>C (n.*79A>C) | |
| X | g.119837821A>C | CA414182882 | UPF3B | c.1238T>G (p.Ile413Arg) c.112T>G c.1199T>G (p.Ile400Arg) c.*78T>G (n.*78T>G) | |
| X | g.119837821A>G | CA414182884 | UPF3B | c.1238T>C (p.Ile413Thr) c.112T>C c.1199T>C (p.Ile400Thr) c.*78T>C (n.*78T>C) | gnomAD v4 |
| X | g.119837821A>T | CA414182883 | UPF3B | c.1238T>A (p.Ile413Lys) c.112T>A c.1199T>A (p.Ile400Lys) c.*78T>A (n.*78T>A) | |
| X | g.119837822T>A | CA414182885 | UPF3B | c.1237A>T (p.Ile413Leu) c.111A>T c.1198A>T (p.Ile400Leu) c.*77A>T (n.*77A>T) | |
| X | g.119837822T>C | CA414182886 | UPF3B | c.1237A>G (p.Ile413Val) c.111A>G c.1198A>G (p.Ile400Val) c.*77A>G (n.*77A>G) | gnomAD v4 |
| X | g.119837822T>G | CA414182887 | UPF3B | c.1237A>C (p.Ile413Leu) c.111A>C c.1198A>C (p.Ile400Leu) c.*77A>C (n.*77A>C) | |
| X | g.119837823T>A | CA518446895 | UPF3B | c.1236A>T (p.Ser412=) c.110A>T c.1197A>T (p.Ser399=) c.*76A>T (n.*76A>T) | |
| X | g.119837823T>C | CA518446898 | UPF3B | c.1236A>G (p.Ser412=) c.110A>G c.1197A>G (p.Ser399=) c.*76A>G (n.*76A>G) | |
| X | g.119837823T>G | CA518446896 | UPF3B | c.1236A>C (p.Ser412=) c.110A>C c.1197A>C (p.Ser399=) c.*76A>C (n.*76A>C) | |
| X | g.119837824G>A | CA10503165 | UPF3B | c.1235C>T (p.Ser412Leu) c.109C>T c.1196C>T (p.Ser399Leu) c.*75C>T (n.*75C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.119837824G>C | CA414182888 | UPF3B | c.1235C>G (p.Ser412Ter) c.109C>G c.1196C>G (p.Ser399Ter) c.*75C>G (n.*75C>G) | |
| X | g.119837824G= | CA2454680462 | UPF3B | c.1235C= (p.Ser412=) c.109C= c.1196C= (p.Ser399=) c.*75C= (n.*75C=) | |
| X | g.119837824G>T | CA414182889 | UPF3B | c.1235C>A (p.Ser412Ter) c.109C>A c.1196C>A (p.Ser399Ter) c.*75C>A (n.*75C>A) | |
| X | g.119837825A>C | CA414182890 | UPF3B | c.1234T>G (p.Ser412Ala) c.108T>G c.1195T>G (p.Ser399Ala) c.*74T>G (n.*74T>G) | |
| X | g.119837825A>G | CA414182891 | UPF3B | c.1234T>C (p.Ser412Pro) c.108T>C c.1195T>C (p.Ser399Pro) c.*74T>C (n.*74T>C) | |
| X | g.119837825A>T | CA414182892 | UPF3B | c.1234T>A (p.Ser412Thr) c.108T>A c.1195T>A (p.Ser399Thr) c.*74T>A (n.*74T>A) | |
| X | g.119837826T>A | CA414182893 | UPF3B | c.1233A>T (p.Glu411Asp) c.107A>T c.1194A>T (p.Glu398Asp) c.*73A>T (n.*73A>T) | |
| X | g.119837826T>C | CA518446904 | UPF3B | c.1233A>G (p.Glu411=) c.107A>G c.1194A>G (p.Glu398=) c.*73A>G (n.*73A>G) | |
| X | g.119837826T>G | CA414182894 | UPF3B | c.1233A>C (p.Glu411Asp) c.107A>C c.1194A>C (p.Glu398Asp) c.*73A>C (n.*73A>C) | |
| X | g.119837827T>A | CA414182896 | UPF3B | c.1232A>T (p.Glu411Val) c.106A>T c.1193A>T (p.Glu398Val) c.*72A>T (n.*72A>T) | |
| X | g.119837827T>C | CA414182897 | UPF3B | c.1232A>G (p.Glu411Gly) c.106A>G c.1193A>G (p.Glu398Gly) c.*72A>G (n.*72A>G) | |
| X | g.119837827T>G | CA414182895 | UPF3B | c.1232A>C (p.Glu411Ala) c.106A>C c.1193A>C (p.Glu398Ala) c.*72A>C (n.*72A>C) | |
| X | g.119837828C>A | CA414182898 | UPF3B | c.1231G>T (p.Glu411Ter) c.105G>T c.1192G>T (p.Glu398Ter) c.*71G>T (n.*71G>T) | |
| X | g.119837828C>G | CA414182900 | UPF3B | c.1231G>C (p.Glu411Gln) c.105G>C c.1192G>C (p.Glu398Gln) c.*71G>C (n.*71G>C) | |
| X | g.119837828C>T | CA414182899 | UPF3B | c.1231G>A (p.Glu411Lys) c.105G>A c.1192G>A (p.Glu398Lys) c.*71G>A (n.*71G>A) | |
| X | g.119837829T>A | CA518446910 | UPF3B | c.1230A>T (p.Thr410=) c.104A>T c.1191A>T (p.Thr397=) c.*70A>T (n.*70A>T) | |
| X | g.119837829T>C | CA518446912 | UPF3B | c.1230A>G (p.Thr410=) c.104A>G c.1191A>G (p.Thr397=) c.*70A>G (n.*70A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.119837829T>G | CA518446913 | UPF3B | c.1230A>C (p.Thr410=) c.104A>C c.1191A>C (p.Thr397=) c.*70A>C (n.*70A>C) | |
| X | g.119837829T= | CA2454680463 | UPF3B | c.1230A= (p.Thr410=) c.104A= c.1191A= (p.Thr397=) c.*70A= (n.*70A=) | |
| X | g.119837830G>A | CA414182901 | UPF3B | c.1229C>T (p.Thr410Ile) c.103C>T c.1190C>T (p.Thr397Ile) c.*69C>T (n.*69C>T) | |
| X | g.119837830G>C | CA414182902 | UPF3B | c.1229C>G (p.Thr410Arg) c.103C>G c.1190C>G (p.Thr397Arg) c.*69C>G (n.*69C>G) | |
| X | g.119837830G>T | CA414182903 | UPF3B | c.1229C>A (p.Thr410Lys) c.103C>A c.1190C>A (p.Thr397Lys) c.*69C>A (n.*69C>A) | |
| X | g.119837831T>A | CA414182904 | UPF3B | c.1228A>T (p.Thr410Ser) c.102A>T c.1189A>T (p.Thr397Ser) c.*68A>T (n.*68A>T) | |
| X | g.119837831T>C | CA414182905 | UPF3B | c.1228A>G (p.Thr410Ala) c.102A>G c.1189A>G (p.Thr397Ala) c.*68A>G (n.*68A>G) | |
| X | g.119837831T>G | CA414182906 | UPF3B | c.1228A>C (p.Thr410Pro) c.102A>C c.1189A>C (p.Thr397Pro) c.*68A>C (n.*68A>C) | |
| X | g.119837832A>C | CA414182907 | UPF3B | c.1227T>G (p.Ser409Arg) c.101T>G c.1188T>G (p.Ser396Arg) c.*67T>G (n.*67T>G) | |
| X | g.119837832A>G | CA518446920 | UPF3B | c.1227T>C (p.Ser409=) c.101T>C c.1188T>C (p.Ser396=) c.*67T>C (n.*67T>C) | gnomAD v4 |
| X | g.119837832A>T | CA414182908 | UPF3B | c.1227T>A (p.Ser409Arg) c.101T>A c.1188T>A (p.Ser396Arg) c.*67T>A (n.*67T>A) | |
| X | g.119837833C>A | CA414182909 | UPF3B | c.1226G>T (p.Ser409Ile) c.100G>T c.1187G>T (p.Ser396Ile) c.*66G>T (n.*66G>T) | |
| X | g.119837833C>G | CA414182910 | UPF3B | c.1226G>C (p.Ser409Thr) c.100G>C c.1187G>C (p.Ser396Thr) c.*66G>C (n.*66G>C) | |
| X | g.119837833C>T | CA414182911 | UPF3B | c.1226G>A (p.Ser409Asn) c.100G>A c.1187G>A (p.Ser396Asn) c.*66G>A (n.*66G>A) | |
| X | g.119837834T>A | CA414182914 | UPF3B | c.1225A>T (p.Ser409Cys) c.99A>T c.1186A>T (p.Ser396Cys) c.*65A>T (n.*65A>T) | |
| X | g.119837834T>C | CA414182913 | UPF3B | c.1225A>G (p.Ser409Gly) c.99A>G c.1186A>G (p.Ser396Gly) c.*65A>G (n.*65A>G) | |
| X | g.119837834T>G | CA414182912 | UPF3B | c.1225A>C (p.Ser409Arg) c.99A>C c.1186A>C (p.Ser396Arg) c.*65A>C (n.*65A>C) | |
| X | g.119837835T>A | CA414182915 | UPF3B | c.1224A>T (p.Glu408Asp) c.98A>T c.1185A>T (p.Glu395Asp) c.*64A>T (n.*64A>T) | |
| X | g.119837835T>C | CA518446925 | UPF3B | c.1224A>G (p.Glu408=) c.98A>G c.1185A>G (p.Glu395=) c.*64A>G (n.*64A>G) | |
| X | g.119837835T>G | CA414182916 | UPF3B | c.1224A>C (p.Glu408Asp) c.98A>C c.1185A>C (p.Glu395Asp) c.*64A>C (n.*64A>C) | |
| X | g.119837836T>A | CA414182917 | UPF3B | c.1223A>T (p.Glu408Val) c.97A>T c.1184A>T (p.Glu395Val) c.*63A>T (n.*63A>T) | |
| X | g.119837836T>C | CA10503166 | UPF3B | c.1223A>G (p.Glu408Gly) c.97A>G c.1184A>G (p.Glu395Gly) c.*63A>G (n.*63A>G) | dbSNP ExAC gnomAD v2 |
| X | g.119837836T>G | CA414182918 | UPF3B | c.1223A>C (p.Glu408Ala) c.97A>C c.1184A>C (p.Glu395Ala) c.*63A>C (n.*63A>C) | |
| X | g.119837836T= | CA2454680464 | UPF3B | c.1223A= (p.Glu408=) c.97A= c.1184A= (p.Glu395=) c.*63A= (n.*63A=) | |
| X | g.119837837C>A | CA414182919 | UPF3B | c.1222G>T (p.Glu408Ter) c.96G>T c.1183G>T (p.Glu395Ter) c.*62G>T (n.*62G>T) | |
| X | g.119837837C>G | CA414182920 | UPF3B | c.1222G>C (p.Glu408Gln) c.96G>C c.1183G>C (p.Glu395Gln) c.*62G>C (n.*62G>C) | COSMIC |
| X | g.119837837C>T | CA414182921 | UPF3B | c.1222G>A (p.Glu408Lys) c.96G>A c.1183G>A (p.Glu395Lys) c.*62G>A (n.*62G>A) | |
| X | g.119837838A>C | CA518446927 | UPF3B | c.1221T>G (p.Ala407=) c.95T>G c.1182T>G (p.Ala394=) c.*61T>G (n.*61T>G) | |
| X | g.119837838A>G | CA518446928 | UPF3B | c.1221T>C (p.Ala407=) c.95T>C c.1182T>C (p.Ala394=) c.*61T>C (n.*61T>C) | |
| X | g.119837838A>T | CA518446929 | UPF3B | c.1221T>A (p.Ala407=) c.95T>A c.1182T>A (p.Ala394=) c.*61T>A (n.*61T>A) | |
| X | g.119837839G>A | CA414182922 | UPF3B | c.1220C>T (p.Ala407Val) c.94C>T c.1181C>T (p.Ala394Val) c.*60C>T (n.*60C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.119837839G>C | CA414182923 | UPF3B | c.1220C>G (p.Ala407Gly) c.94C>G c.1181C>G (p.Ala394Gly) c.*60C>G (n.*60C>G) | |
| X | g.119837839G= | CA2454680465 | UPF3B | c.1220C= (p.Ala407=) c.94C= c.1181C= (p.Ala394=) c.*60C= (n.*60C=) | |
| X | g.119837839G>T | CA414182924 | UPF3B | c.1220C>A (p.Ala407Asp) c.94C>A c.1181C>A (p.Ala394Asp) c.*60C>A (n.*60C>A) | |
| X | g.119837840C>A | CA414182927 | UPF3B | c.1219G>T (p.Ala407Ser) c.93G>T c.1180G>T (p.Ala394Ser) c.*59G>T (n.*59G>T) | |
| X | g.119837840C>G | CA414182926 | UPF3B | c.1219G>C (p.Ala407Pro) c.93G>C c.1180G>C (p.Ala394Pro) c.*59G>C (n.*59G>C) | |
| X | g.119837840C>T | CA414182925 | UPF3B | c.1219G>A (p.Ala407Thr) c.93G>A c.1180G>A (p.Ala394Thr) c.*59G>A (n.*59G>A) | |
| X | g.119837841C>A | CA414182928 | UPF3B | c.1218G>T (p.Lys406Asn) c.92G>T c.1179G>T (p.Lys393Asn) c.*58G>T (n.*58G>T) | |
| X | g.119837841C>G | CA414182929 | UPF3B | c.1218G>C (p.Lys406Asn) c.92G>C c.1179G>C (p.Lys393Asn) c.*58G>C (n.*58G>C) | |
| X | g.119837841C>T | CA518446931 | UPF3B | c.1218G>A (p.Lys406=) c.92G>A c.1179G>A (p.Lys393=) c.*58G>A (n.*58G>A) | |
| X | g.119837842T>A | CA414182930 | UPF3B | c.1217A>T (p.Lys406Met) c.91A>T c.1178A>T (p.Lys393Met) c.*57A>T (n.*57A>T) | |
| X | g.119837842T>C | CA414182931 | UPF3B | c.1217A>G (p.Lys406Arg) c.91A>G c.1178A>G (p.Lys393Arg) c.*57A>G (n.*57A>G) | |
| X | g.119837842T>G | CA414182932 | UPF3B | c.1217A>C (p.Lys406Thr) c.91A>C c.1178A>C (p.Lys393Thr) c.*57A>C (n.*57A>C) | COSMIC |
| X | g.119837843T>A | CA414182933 | UPF3B | c.1216A>T (p.Lys406Ter) c.90A>T c.1177A>T (p.Lys393Ter) c.*56A>T (n.*56A>T) | |
| X | g.119837843T>C | CA414182934 | UPF3B | c.1216A>G (p.Lys406Glu) c.90A>G c.1177A>G (p.Lys393Glu) c.*56A>G (n.*56A>G) | |
| X | g.119837843T>G | CA414182935 | UPF3B | c.1216A>C (p.Lys406Gln) c.90A>C c.1177A>C (p.Lys393Gln) c.*56A>C (n.*56A>C) | |
| X | g.119837844C>A | CA414182936 | UPF3B | c.1215G>T (p.Lys405Asn) c.89G>T c.1176G>T (p.Lys392Asn) c.*55G>T (n.*55G>T) | |
| X | g.119837844C>G | CA414182937 | UPF3B | c.1215G>C (p.Lys405Asn) c.89G>C c.1176G>C (p.Lys392Asn) c.*55G>C (n.*55G>C) | |
| X | g.119837844C>T | CA518446933 | UPF3B | c.1215G>A (p.Lys405=) c.89G>A c.1176G>A (p.Lys392=) c.*55G>A (n.*55G>A) | |
| X | g.119837845T>A | CA414182938 | UPF3B | c.1214A>T (p.Lys405Met) c.88A>T c.1175A>T (p.Lys392Met) c.*54A>T (n.*54A>T) | |
| X | g.119837845T>C | CA414182939 | UPF3B | c.1214A>G (p.Lys405Arg) c.88A>G c.1175A>G (p.Lys392Arg) c.*54A>G (n.*54A>G) | |
| X | g.119837845T>G | CA414182940 | UPF3B | c.1214A>C (p.Lys405Thr) c.88A>C c.1175A>C (p.Lys392Thr) c.*54A>C (n.*54A>C) | |
| X | g.119837846T>A | CA414182943 | UPF3B | c.1213A>T (p.Lys405Ter) c.87A>T c.1174A>T (p.Lys392Ter) c.*53A>T (n.*53A>T) | |
| X | g.119837846T>C | CA414182941 | UPF3B | c.1213A>G (p.Lys405Glu) c.87A>G c.1174A>G (p.Lys392Glu) c.*53A>G (n.*53A>G) | |
| X | g.119837846T>G | CA414182942 | UPF3B | c.1213A>C (p.Lys405Gln) c.87A>C c.1174A>C (p.Lys392Gln) c.*53A>C (n.*53A>C) | |
| X | g.119837847T>A | CA518446938 | UPF3B | c.1212A>T (p.Gly404=) c.86A>T c.1173A>T (p.Gly391=) c.*52A>T (n.*52A>T) | |
| X | g.119837847T>C | CA518446939 | UPF3B | c.1212A>G (p.Gly404=) c.86A>G c.1173A>G (p.Gly391=) c.*52A>G (n.*52A>G) | |
| X | g.119837847T>G | CA518446940 | UPF3B | c.1212A>C (p.Gly404=) c.86A>C c.1173A>C (p.Gly391=) c.*52A>C (n.*52A>C) | |
| X | g.119837848C>A | CA414182944 | UPF3B | c.1211G>T (p.Gly404Val) c.85G>T c.1172G>T (p.Gly391Val) c.*51G>T (n.*51G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.119837848C= | CA2454680466 | UPF3B | c.1211G= (p.Gly404=) c.85G= c.1172G= (p.Gly391=) c.*51G= (n.*51G=) | |
| X | g.119837848C>G | CA414182945 | UPF3B | c.1211G>C (p.Gly404Ala) c.85G>C c.1172G>C (p.Gly391Ala) c.*51G>C (n.*51G>C) | |
| X | g.119837848C>T | CA414182946 | UPF3B | c.1211G>A (p.Gly404Glu) c.85G>A c.1172G>A (p.Gly391Glu) c.*51G>A (n.*51G>A) | |
| X | g.119837849C>A | CA414182947 | UPF3B | c.1210G>T (p.Gly404Ter) c.84G>T c.1171G>T (p.Gly391Ter) c.*50G>T (n.*50G>T) | |
| X | g.119837849C>G | CA414182948 | UPF3B | c.1210G>C (p.Gly404Arg) c.84G>C c.1171G>C (p.Gly391Arg) c.*50G>C (n.*50G>C) | |
| X | g.119837849C>T | CA414182949 | UPF3B | c.1210G>A (p.Gly404Arg) c.84G>A c.1171G>A (p.Gly391Arg) c.*50G>A (n.*50G>A) | |
| X | g.119837850T>A | CA414182950 | UPF3B | c.1209A>T (p.Lys403Asn) c.83A>T c.1170A>T (p.Lys390Asn) c.*49A>T (n.*49A>T) | |
| X | g.119837850T>C | CA518446941 | UPF3B | c.1209A>G (p.Lys403=) c.83A>G c.1170A>G (p.Lys390=) c.*49A>G (n.*49A>G) | |
| X | g.119837850T>G | CA414182951 | UPF3B | c.1209A>C (p.Lys403Asn) c.83A>C c.1170A>C (p.Lys390Asn) c.*49A>C (n.*49A>C) | |
| X | g.119837851T>A | CA414182952 | UPF3B | c.1208A>T (p.Lys403Ile) c.82A>T c.1169A>T (p.Lys390Ile) c.*48A>T (n.*48A>T) | |
| X | g.119837851T>C | CA414182953 | UPF3B | c.1208A>G (p.Lys403Arg) c.82A>G c.1169A>G (p.Lys390Arg) c.*48A>G (n.*48A>G) | |
| X | g.119837851T>G | CA414182954 | UPF3B | c.1208A>C (p.Lys403Thr) c.82A>C c.1169A>C (p.Lys390Thr) c.*48A>C (n.*48A>C) | |
| X | g.119837852T>A | CA414182955 | UPF3B | c.1207A>T (p.Lys403Ter) c.81A>T c.1168A>T (p.Lys390Ter) c.*47A>T (n.*47A>T) | |
| X | g.119837852T>C | CA414182957 | UPF3B | c.1207A>G (p.Lys403Glu) c.81A>G c.1168A>G (p.Lys390Glu) c.*47A>G (n.*47A>G) | |
| X | g.119837852T>G | CA414182956 | UPF3B | c.1207A>C (p.Lys403Gln) c.81A>C c.1168A>C (p.Lys390Gln) c.*47A>C (n.*47A>C) | |
| X | g.119837853A>C | CA414182958 | UPF3B | c.1206T>G (p.Asp402Glu) c.80T>G c.1167T>G (p.Asp389Glu) c.*46T>G (n.*46T>G) | |
| X | g.119837853A>G | CA518446943 | UPF3B | c.1206T>C (p.Asp402=) c.80T>C c.1167T>C (p.Asp389=) c.*46T>C (n.*46T>C) | |
| X | g.119837853A>T | CA414182959 | UPF3B | c.1206T>A (p.Asp402Glu) c.80T>A c.1167T>A (p.Asp389Glu) c.*46T>A (n.*46T>A) | |
| X | g.119837854T>A | CA414182960 | UPF3B | c.1205A>T (p.Asp402Val) c.79A>T c.1166A>T (p.Asp389Val) c.*45A>T (n.*45A>T) | |
| X | g.119837854T>C | CA414182962 | UPF3B | c.1205A>G (p.Asp402Gly) c.79A>G c.1166A>G (p.Asp389Gly) c.*45A>G (n.*45A>G) | gnomAD v4 |
| X | g.119837854T>G | CA414182961 | UPF3B | c.1205A>C (p.Asp402Ala) c.79A>C c.1166A>C (p.Asp389Ala) c.*45A>C (n.*45A>C) | |
| X | g.119837855C>A | CA414182963 | UPF3B | c.1204G>T (p.Asp402Tyr) c.78G>T c.1165G>T (p.Asp389Tyr) c.*44G>T (n.*44G>T) | |
| X | g.119837855C>G | CA414182965 | UPF3B | c.1204G>C (p.Asp402His) c.78G>C c.1165G>C (p.Asp389His) c.*44G>C (n.*44G>C) | |
| X | g.119837855C>T | CA414182964 | UPF3B | c.1204G>A (p.Asp402Asn) c.78G>A c.1165G>A (p.Asp389Asn) c.*44G>A (n.*44G>A) | |
| X | g.119837856C>A | CA518446946 | UPF3B | c.1203G>T (p.Arg401=) c.77G>T c.1164G>T (p.Arg388=) c.*43G>T (n.*43G>T) | |
| X | g.119837856C= | CA2454679893 | UPF3B | c.1203G= (p.Arg401=) c.77G= c.1164G= (p.Arg388=) c.*43G= (n.*43G=) | |
| X | g.119837856C>G | CA10503167 | UPF3B | c.1203G>C (p.Arg401=) c.77G>C c.1164G>C (p.Arg388=) c.*43G>C (n.*43G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119837856C>T | CA518446947 | UPF3B | c.1203G>A (p.Arg401=) c.77G>A c.1164G>A (p.Arg388=) c.*43G>A (n.*43G>A) | gnomAD v4 |
| X | g.119837857C>A | CA414182967 | UPF3B | c.1202G>T (p.Arg401Leu) c.76G>T c.1163G>T (p.Arg388Leu) c.*42G>T (n.*42G>T) | |
| X | g.119837857C= | CA2454679894 | UPF3B | c.1202G= (p.Arg401=) c.76G= c.1163G= (p.Arg388=) c.*42G= (n.*42G=) | |
| X | g.119837857C>G | CA414182966 | UPF3B | c.1202G>C (p.Arg401Pro) c.76G>C c.1163G>C (p.Arg388Pro) c.*42G>C (n.*42G>C) | |
| X | g.119837857C>T | CA10503168 | UPF3B | c.1202G>A (p.Arg401Gln) c.76G>A c.1163G>A (p.Arg388Gln) c.*42G>A (n.*42G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.119837858G>A | CA10503169 | UPF3B | c.1201C>T (p.Arg401Trp) c.75C>T c.1162C>T (p.Arg388Trp) c.*41C>T (n.*41C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119837858G>C | CA414182968 | UPF3B | c.1201C>G (p.Arg401Gly) c.75C>G c.1162C>G (p.Arg388Gly) c.*41C>G (n.*41C>G) | |
| X | g.119837858G= | CA2454679895 | UPF3B | c.1201C= (p.Arg401=) c.75C= c.1162C= (p.Arg388=) c.*41C= (n.*41C=) | |
| X | g.119837858G>T | CA518446951 | UPF3B | c.1201C>A (p.Arg401=) c.75C>A c.1162C>A (p.Arg388=) c.*41C>A (n.*41C>A) | |
| X | g.119837859A>C | CA518446952 | UPF3B | c.1200T>G (p.Leu400=) c.74T>G c.1161T>G (p.Leu387=) c.*40T>G (n.*40T>G) | |
| X | g.119837859A>G | CA518446953 | UPF3B | c.1200T>C (p.Leu400=) c.74T>C c.1161T>C (p.Leu387=) c.*40T>C (n.*40T>C) | |
| X | g.119837859A>T | CA518446954 | UPF3B | c.1200T>A (p.Leu400=) c.74T>A c.1161T>A (p.Leu387=) c.*40T>A (n.*40T>A) | |
| X | g.119837860A>C | CA414182969 | UPF3B | c.1199T>G (p.Leu400Arg) c.73T>G c.1160T>G (p.Leu387Arg) c.*39T>G (n.*39T>G) | |
| X | g.119837860A>G | CA414182970 | UPF3B | c.1199T>C (p.Leu400Pro) c.73T>C c.1160T>C (p.Leu387Pro) c.*39T>C (n.*39T>C) | |
| X | g.119837860A>T | CA414182971 | UPF3B | c.1199T>A (p.Leu400His) c.73T>A c.1160T>A (p.Leu387His) c.*39T>A (n.*39T>A) | |
| X | g.119837861G>A | CA414182972 | UPF3B | c.1198C>T (p.Leu400Phe) c.72C>T c.1159C>T (p.Leu387Phe) c.*38C>T (n.*38C>T) | gnomAD v3 gnomAD v4 |
| X | g.119837861G>C | CA414182973 | UPF3B | c.1198C>G (p.Leu400Val) c.72C>G c.1159C>G (p.Leu387Val) c.*38C>G (n.*38C>G) | gnomAD v4 |
| X | g.119837861G>T | CA414182974 | UPF3B | c.1198C>A (p.Leu400Ile) c.72C>A c.1159C>A (p.Leu387Ile) c.*38C>A (n.*38C>A) | |
| X | g.119837862T>A | CA518446956 | UPF3B | c.1197A>T (p.Thr399=) c.71A>T c.1158A>T (p.Thr386=) c.*37A>T (n.*37A>T) | |
| X | g.119837862T>C | CA10503170 | UPF3B | c.1197A>G (p.Thr399=) c.71A>G c.1158A>G (p.Thr386=) c.*37A>G (n.*37A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119837862T>G | CA518446957 | UPF3B | c.1197A>C (p.Thr399=) c.71A>C c.1158A>C (p.Thr386=) c.*37A>C (n.*37A>C) | |
| X | g.119837862T= | CA2454679896 | UPF3B | c.1197A= (p.Thr399=) c.71A= c.1158A= (p.Thr386=) c.*37A= (n.*37A=) | |
| X | g.119837863G>A | CA10503171 | UPF3B | c.1196C>T (p.Thr399Ile) c.70C>T c.1157C>T (p.Thr386Ile) c.*36C>T (n.*36C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.119837863G>C | CA414182975 | UPF3B | c.1196C>G (p.Thr399Arg) c.70C>G c.1157C>G (p.Thr386Arg) c.*36C>G (n.*36C>G) | |
| X | g.119837863G= | CA2454679897 | UPF3B | c.1196C= (p.Thr399=) c.70C= c.1157C= (p.Thr386=) c.*36C= (n.*36C=) | |
| X | g.119837863G>T | CA414182976 | UPF3B | c.1196C>A (p.Thr399Lys) c.70C>A c.1157C>A (p.Thr386Lys) c.*36C>A (n.*36C>A) | |
| X | g.119837864T>A | CA414182977 | UPF3B | c.1195A>T (p.Thr399Ser) c.69A>T c.1156A>T (p.Thr386Ser) c.*35A>T (n.*35A>T) | dbSNP gnomAD v4 |
| X | g.119837864T>C | CA414182978 | UPF3B | c.1195A>G (p.Thr399Ala) c.69A>G c.1156A>G (p.Thr386Ala) c.*35A>G (n.*35A>G) | |
| X | g.119837864T>G | CA414182979 | UPF3B | c.1195A>C (p.Thr399Pro) c.69A>C c.1156A>C (p.Thr386Pro) c.*35A>C (n.*35A>C) | |
| X | g.119837864T= | CA2454679898 | UPF3B | c.1195A= (p.Thr399=) c.69A= c.1156A= (p.Thr386=) c.*35A= (n.*35A=) | |
| X | g.119837865G>A | CA518446958 | UPF3B | c.1194C>T (p.Asp398=) c.68C>T c.1155C>T (p.Asp385=) c.*34C>T (n.*34C>T) | gnomAD v4 |
| X | g.119837865G>C | CA414182980 | UPF3B | c.1194C>G (p.Asp398Glu) c.68C>G c.1155C>G (p.Asp385Glu) c.*34C>G (n.*34C>G) | |
| X | g.119837865G>T | CA414182981 | UPF3B | c.1194C>A (p.Asp398Glu) c.68C>A c.1155C>A (p.Asp385Glu) c.*34C>A (n.*34C>A) | |
| X | g.119837866T>A | CA414182982 | UPF3B | c.1193A>T (p.Asp398Val) c.67A>T c.1154A>T (p.Asp385Val) c.*33A>T (n.*33A>T) | |
| X | g.119837866T>C | CA414182983 | UPF3B | c.1193A>G (p.Asp398Gly) c.67A>G c.1154A>G (p.Asp385Gly) c.*33A>G (n.*33A>G) | |
| X | g.119837866T>G | CA414182984 | UPF3B | c.1193A>C (p.Asp398Ala) c.67A>C c.1154A>C (p.Asp385Ala) c.*33A>C (n.*33A>C) | |
| X | g.119837867C>A | CA414182985 | UPF3B | c.1192G>T (p.Asp398Tyr) c.66G>T c.1153G>T (p.Asp385Tyr) c.*32G>T (n.*32G>T) | COSMIC |
| X | g.119837867C= | CA2454679899 | UPF3B | c.1192G= (p.Asp398=) c.66G= c.1153G= (p.Asp385=) c.*32G= (n.*32G=) | |
| X | g.119837867C>G | CA414182986 | UPF3B | c.1192G>C (p.Asp398His) c.66G>C c.1153G>C (p.Asp385His) c.*32G>C (n.*32G>C) | |
| X | g.119837867C>T | CA414182987 | UPF3B | c.1192G>A (p.Asp398Asn) c.66G>A c.1153G>A (p.Asp385Asn) c.*32G>A (n.*32G>A) | dbSNP gnomAD v4 |
| X | g.119837868T>A | CA414182988 | UPF3B | c.1191A>T (p.Lys397Asn) c.65A>T c.1152A>T (p.Lys384Asn) c.*31A>T (n.*31A>T) | |
| X | g.119837868T>C | CA518446959 | UPF3B | c.1191A>G (p.Lys397=) c.65A>G c.1152A>G (p.Lys384=) c.*31A>G (n.*31A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837868T>G | CA414182989 | UPF3B | c.1191A>C (p.Lys397Asn) c.65A>C c.1152A>C (p.Lys384Asn) c.*31A>C (n.*31A>C) | |
| X | g.119837868T= | CA2454679900 | UPF3B | c.1191A= (p.Lys397=) c.65A= c.1152A= (p.Lys384=) c.*31A= (n.*31A=) | |
| X | g.119837869T>A | CA414182990 | UPF3B | c.1190A>T (p.Lys397Ile) c.64A>T c.1151A>T (p.Lys384Ile) c.*30A>T (n.*30A>T) | |
| X | g.119837869T>C | CA414182991 | UPF3B | c.1190A>G (p.Lys397Arg) c.64A>G c.1151A>G (p.Lys384Arg) c.*30A>G (n.*30A>G) | |
| X | g.119837869T>G | CA414182992 | UPF3B | c.1190A>C (p.Lys397Thr) c.64A>C c.1151A>C (p.Lys384Thr) c.*30A>C (n.*30A>C) | |
| X | g.119837870T>A | CA414182994 | UPF3B | c.1189A>T (p.Lys397Ter) c.63A>T c.1150A>T (p.Lys384Ter) c.*29A>T (n.*29A>T) | |
| X | g.119837870T>C | CA334123362 | UPF3B | c.1189A>G (p.Lys397Glu) c.63A>G c.1150A>G (p.Lys384Glu) c.*29A>G (n.*29A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.119837870T>G | CA414182993 | UPF3B | c.1189A>C (p.Lys397Gln) c.63A>C c.1150A>C (p.Lys384Gln) c.*29A>C (n.*29A>C) | |
| X | g.119837870T= | CA2454679901 | UPF3B | c.1189A= (p.Lys397=) c.63A= c.1150A= (p.Lys384=) c.*29A= (n.*29A=) | |
| X | g.119837873_119837874del | CA2694575587 | UPF3B | c.1188_1189del (p.Lys397ArgfsTer6) c.62_63del c.1149_1150del (p.Lys384ArgfsTer6) c.*28_*29del (n.*28_*29del) | gnomAD v4 |
| X | g.119837871C>A | CA414182995 | UPF3B | c.1188G>T (p.Glu396Asp) c.62G>T c.1149G>T (p.Glu383Asp) c.*28G>T (n.*28G>T) | |
| X | g.119837871C>G | CA414182996 | UPF3B | c.1188G>C (p.Glu396Asp) c.62G>C c.1149G>C (p.Glu383Asp) c.*28G>C (n.*28G>C) | |
| X | g.119837871C>T | CA518446960 | UPF3B | c.1188G>A (p.Glu396=) c.62G>A c.1149G>A (p.Glu383=) c.*28G>A (n.*28G>A) | |
| X | g.119837872T>A | CA414182997 | UPF3B | c.1187A>T (p.Glu396Val) c.61A>T c.1148A>T (p.Glu383Val) c.*27A>T (n.*27A>T) | |
| X | g.119837872T>C | CA414182998 | UPF3B | c.1187A>G (p.Glu396Gly) c.61A>G c.1148A>G (p.Glu383Gly) c.*27A>G (n.*27A>G) | |
| X | g.119837872T>G | CA414182999 | UPF3B | c.1187A>C (p.Glu396Ala) c.61A>C c.1148A>C (p.Glu383Ala) c.*27A>C (n.*27A>C) | |
| X | g.119837873C>A | CA414183000 | UPF3B | c.1186G>T (p.Glu396Ter) c.60G>T c.1147G>T (p.Glu383Ter) c.*26G>T (n.*26G>T) | |
| X | g.119837873C>G | CA414183001 | UPF3B | c.1186G>C (p.Glu396Gln) c.60G>C c.1147G>C (p.Glu383Gln) c.*26G>C (n.*26G>C) | |
| X | g.119837873C>T | CA414183002 | UPF3B | c.1186G>A (p.Glu396Lys) c.60G>A c.1147G>A (p.Glu383Lys) c.*26G>A (n.*26G>A) |