UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64772676C>A | CA390040861 | SPTB | c.5457G>T (p.Glu1819Asp) c.1452G>T (p.Glu484Asp) | |
| 14 | g.64772676C>G | CA390040862 | SPTB | c.5457G>C (p.Glu1819Asp) c.1452G>C (p.Glu484Asp) | |
| 14 | g.64772676C>T | CA486735456 | SPTB | c.5457G>A (p.Glu1819=) c.1452G>A (p.Glu484=) | |
| 14 | g.64772676_64772677delinsAA | CA2695219407 | SPTB | c.5456_5457delinsTT (p.Glu1819Val) c.1451_1452delinsTT (p.Glu484Val) | |
| 14 | g.64772677T>A | CA7229962 | SPTB | c.5456A>T (p.Glu1819Val) c.1451A>T (p.Glu484Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772677T>C | CA390040863 | SPTB | c.5456A>G (p.Glu1819Gly) c.1451A>G (p.Glu484Gly) | |
| 14 | g.64772677T>G | CA390040864 | SPTB | c.5456A>C (p.Glu1819Ala) c.1451A>C (p.Glu484Ala) | |
| 14 | g.64772677T= | CA2142803833 | SPTB | c.5456A= (p.Glu1819=) c.1451A= (p.Glu484=) | |
| 14 | g.64772678C>A | CA7229963 | SPTB | c.5455G>T (p.Glu1819Ter) c.1450G>T (p.Glu484Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772678C= | CA2142803837 | SPTB | c.5455G= (p.Glu1819=) c.1450G= (p.Glu484=) | |
| 14 | g.64772678C>G | CA390040865 | SPTB | c.5455G>C (p.Glu1819Gln) c.1450G>C (p.Glu484Gln) | |
| 14 | g.64772678C>T | CA7229964 | SPTB | c.5455G>A (p.Glu1819Lys) c.1450G>A (p.Glu484Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772679G>A | CA7229965 | SPTB | c.5454C>T (p.Arg1818=) c.1449C>T (p.Arg483=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772679G>C | CA486735457 | SPTB | c.5454C>G (p.Arg1818=) c.1449C>G (p.Arg483=) | |
| 14 | g.64772679G= | CA2142803843 | SPTB | c.5454C= (p.Arg1818=) c.1449C= (p.Arg483=) | |
| 14 | g.64772679G>T | CA486735458 | SPTB | c.5454C>A (p.Arg1818=) c.1449C>A (p.Arg483=) | |
| 14 | g.64772680C>A | CA390040866 | SPTB | c.5453G>T (p.Arg1818Leu) c.1448G>T (p.Arg483Leu) | |
| 14 | g.64772680C= | CA2142803846 | SPTB | c.5453G= (p.Arg1818=) c.1448G= (p.Arg483=) | |
| 14 | g.64772680C>G | CA390040867 | SPTB | c.5453G>C (p.Arg1818Pro) c.1448G>C (p.Arg483Pro) | |
| 14 | g.64772680C>T | CA7229966 | SPTB | c.5453G>A (p.Arg1818His) c.1448G>A (p.Arg483His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772681G>A | CA7229967 | SPTB | c.5452C>T (p.Arg1818Cys) c.1447C>T (p.Arg483Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772681G>C | CA390040868 | SPTB | c.5452C>G (p.Arg1818Gly) c.1447C>G (p.Arg483Gly) | |
| 14 | g.64772681G= | CA2142803847 | SPTB | c.5452C= (p.Arg1818=) c.1447C= (p.Arg483=) | |
| 14 | g.64772681G>T | CA390040869 | SPTB | c.5452C>A (p.Arg1818Ser) c.1447C>A (p.Arg483Ser) | gnomAD v4 |
| 14 | g.64772682G>A | CA486735459 | SPTB | c.5451C>T (p.His1817=) c.1446C>T (p.His482=) | dbSNP gnomAD v4 |
| 14 | g.64772682G>C | CA390040870 | SPTB | c.5451C>G (p.His1817Gln) c.1446C>G (p.His482Gln) | |
| 14 | g.64772682G= | CA2142803853 | SPTB | c.5451C= (p.His1817=) c.1446C= (p.His482=) | |
| 14 | g.64772682G>T | CA390040871 | SPTB | c.5451C>A (p.His1817Gln) c.1446C>A (p.His482Gln) | COSMIC |
| 14 | g.64772683T>A | CA390040872 | SPTB | c.5450A>T (p.His1817Leu) c.1445A>T (p.His482Leu) | |
| 14 | g.64772683T>C | CA390040873 | SPTB | c.5450A>G (p.His1817Arg) c.1445A>G (p.His482Arg) | |
| 14 | g.64772683T>G | CA390040874 | SPTB | c.5450A>C (p.His1817Pro) c.1445A>C (p.His482Pro) | |
| 14 | g.64772684G>A | CA7229968 | SPTB | c.5449C>T (p.His1817Tyr) c.1444C>T (p.His482Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772684G>C | CA390040875 | SPTB | c.5449C>G (p.His1817Asp) c.1444C>G (p.His482Asp) | |
| 14 | g.64772684G= | CA2142803854 | SPTB | c.5449C= (p.His1817=) c.1444C= (p.His482=) | |
| 14 | g.64772684G>T | CA390040876 | SPTB | c.5449C>A (p.His1817Asn) c.1444C>A (p.His482Asn) | |
| 14 | g.64772685C>A | CA390040877 | SPTB | c.5448G>T (p.Lys1816Asn) c.1443G>T (p.Lys481Asn) | |
| 14 | g.64772685C>G | CA390040878 | SPTB | c.5448G>C (p.Lys1816Asn) c.1443G>C (p.Lys481Asn) | |
| 14 | g.64772685C>T | CA486735460 | SPTB | c.5448G>A (p.Lys1816=) c.1443G>A (p.Lys481=) | |
| 14 | g.64772686T>A | CA390040879 | SPTB | c.5447A>T (p.Lys1816Met) c.1442A>T (p.Lys481Met) | COSMIC COSMIC |
| 14 | g.64772686T>C | CA390040880 | SPTB | c.5447A>G (p.Lys1816Arg) c.1442A>G (p.Lys481Arg) | gnomAD v4 |
| 14 | g.64772686T>G | CA390040881 | SPTB | c.5447A>C (p.Lys1816Thr) c.1442A>C (p.Lys481Thr) | |
| 14 | g.64772687del | CA2575565650 | SPTB | c.5447del (p.Lys1816SerfsTer?) c.1442del (p.Lys481SerfsTer?) | |
| 14 | g.64772687T>A | CA390040882 | SPTB | c.5446A>T (p.Lys1816Ter) c.1441A>T (p.Lys481Ter) | ClinVar dbSNP |
| 14 | g.64772687T>C | CA390040884 | SPTB | c.5446A>G (p.Lys1816Glu) c.1441A>G (p.Lys481Glu) | dbSNP gnomAD v2 |
| 14 | g.64772687T>G | CA390040883 | SPTB | c.5446A>C (p.Lys1816Gln) c.1441A>C (p.Lys481Gln) | |
| 14 | g.64772687T= | CA2142803858 | SPTB | c.5446A= (p.Lys1816=) c.1441A= (p.Lys481=) | |
| 14 | g.64772688C>A | CA390040885 | SPTB | c.5445G>T (p.Glu1815Asp) c.1440G>T (p.Glu480Asp) | gnomAD v4 |
| 14 | g.64772688C>G | CA390040886 | SPTB | c.5445G>C (p.Glu1815Asp) c.1440G>C (p.Glu480Asp) | gnomAD v4 |
| 14 | g.64772688C>T | CA486735461 | SPTB | c.5445G>A (p.Glu1815=) c.1440G>A (p.Glu480=) | |
| 14 | g.64772689T>A | CA390040887 | SPTB | c.5444A>T (p.Glu1815Val) c.1439A>T (p.Glu480Val) | |
| 14 | g.64772689T>C | CA390040888 | SPTB | c.5444A>G (p.Glu1815Gly) c.1439A>G (p.Glu480Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772689T>G | CA390040889 | SPTB | c.5444A>C (p.Glu1815Ala) c.1439A>C (p.Glu480Ala) | |
| 14 | g.64772689T= | CA2142803861 | SPTB | c.5444A= (p.Glu1815=) c.1439A= (p.Glu480=) | |
| 14 | g.64772690C>A | CA390040891 | SPTB | c.5443G>T (p.Glu1815Ter) c.1438G>T (p.Glu480Ter) | |
| 14 | g.64772690C= | CA2142803864 | SPTB | c.5443G= (p.Glu1815=) c.1438G= (p.Glu480=) | |
| 14 | g.64772690C>G | CA390040890 | SPTB | c.5443G>C (p.Glu1815Gln) c.1438G>C (p.Glu480Gln) | |
| 14 | g.64772690C>T | CA7229969 | SPTB | c.5443G>A (p.Glu1815Lys) c.1438G>A (p.Glu480Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772691G>A | CA7229970 | SPTB | c.5442C>T (p.Asp1814=) c.1437C>T (p.Asp479=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772691G>C | CA390040892 | SPTB | c.5442C>G (p.Asp1814Glu) c.1437C>G (p.Asp479Glu) | dbSNP gnomAD v4 |
| 14 | g.64772691G= | CA2142803871 | SPTB | c.5442C= (p.Asp1814=) c.1437C= (p.Asp479=) | |
| 14 | g.64772691G>T | CA390040893 | SPTB | c.5442C>A (p.Asp1814Glu) c.1437C>A (p.Asp479Glu) | gnomAD v4 |
| 14 | g.64772692T>A | CA390040894 | SPTB | c.5441A>T (p.Asp1814Val) c.1436A>T (p.Asp479Val) | |
| 14 | g.64772692T>C | CA390040895 | SPTB | c.5441A>G (p.Asp1814Gly) c.1436A>G (p.Asp479Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772692T>G | CA390040896 | SPTB | c.5441A>C (p.Asp1814Ala) c.1436A>C (p.Asp479Ala) | |
| 14 | g.64772692T= | CA2142803877 | SPTB | c.5441A= (p.Asp1814=) c.1436A= (p.Asp479=) | |
| 14 | g.64772693C>A | CA390040897 | SPTB | c.5440G>T (p.Asp1814Tyr) c.1435G>T (p.Asp479Tyr) | gnomAD v4 |
| 14 | g.64772693C= | CA2142803885 | SPTB | c.5440G= (p.Asp1814=) c.1435G= (p.Asp479=) | |
| 14 | g.64772693C>G | CA390040899 | SPTB | c.5440G>C (p.Asp1814His) c.1435G>C (p.Asp479His) | COSMIC COSMIC |
| 14 | g.64772693C>T | CA390040898 | SPTB | c.5440G>A (p.Asp1814Asn) c.1435G>A (p.Asp479Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772694G>A | CA7229971 | SPTB | c.5439C>T (p.Ile1813=) c.1434C>T (p.Ile478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772694G>C | CA390040900 | SPTB | c.5439C>G (p.Ile1813Met) c.1434C>G (p.Ile478Met) | |
| 14 | g.64772694G= | CA2142803896 | SPTB | c.5439C= (p.Ile1813=) c.1434C= (p.Ile478=) | |
| 14 | g.64772694G>T | CA486735462 | SPTB | c.5439C>A (p.Ile1813=) c.1434C>A (p.Ile478=) | |
| 14 | g.64772695A>C | CA390040901 | SPTB | c.5438T>G (p.Ile1813Ser) c.1433T>G (p.Ile478Ser) | |
| 14 | g.64772695A>G | CA390040902 | SPTB | c.5438T>C (p.Ile1813Thr) c.1433T>C (p.Ile478Thr) | |
| 14 | g.64772695A>T | CA390040903 | SPTB | c.5438T>A (p.Ile1813Asn) c.1433T>A (p.Ile478Asn) | gnomAD v4 |
| 14 | g.64772696T>A | CA390040904 | SPTB | c.5437A>T (p.Ile1813Phe) c.1432A>T (p.Ile478Phe) | |
| 14 | g.64772696T>C | CA7229972 | SPTB | c.5437A>G (p.Ile1813Val) c.1432A>G (p.Ile478Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772696T>G | CA390040905 | SPTB | c.5437A>C (p.Ile1813Leu) c.1432A>C (p.Ile478Leu) | |
| 14 | g.64772696T= | CA2142803899 | SPTB | c.5437A= (p.Ile1813=) c.1432A= (p.Ile478=) | |
| 14 | g.64772697G>A | CA7229973 | SPTB | c.5436C>T (p.Leu1812=) c.1431C>T (p.Leu477=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772697G>C | CA486735463 | SPTB | c.5436C>G (p.Leu1812=) c.1431C>G (p.Leu477=) | gnomAD v4 |
| 14 | g.64772697G= | CA2142803903 | SPTB | c.5436C= (p.Leu1812=) c.1431C= (p.Leu477=) | |
| 14 | g.64772697G>T | CA486735464 | SPTB | c.5436C>A (p.Leu1812=) c.1431C>A (p.Leu477=) | |
| 14 | g.64772698A>C | CA390040906 | SPTB | c.5435T>G (p.Leu1812Arg) c.1430T>G (p.Leu477Arg) | |
| 14 | g.64772698A>G | CA390040907 | SPTB | c.5435T>C (p.Leu1812Pro) c.1430T>C (p.Leu477Pro) | |
| 14 | g.64772698A>T | CA390040908 | SPTB | c.5435T>A (p.Leu1812His) c.1430T>A (p.Leu477His) | |
| 14 | g.64772699G>A | CA390040911 | SPTB | c.5434C>T (p.Leu1812Phe) c.1429C>T (p.Leu477Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772699G>C | CA390040910 | SPTB | c.5434C>G (p.Leu1812Val) c.1429C>G (p.Leu477Val) | |
| 14 | g.64772699G= | CA2142803907 | SPTB | c.5434C= (p.Leu1812=) c.1429C= (p.Leu477=) | |
| 14 | g.64772699G>T | CA390040909 | SPTB | c.5434C>A (p.Leu1812Ile) c.1429C>A (p.Leu477Ile) | |
| 14 | g.64772700G>A | CA486735465 | SPTB | c.5433C>T (p.Gly1811=) c.1428C>T (p.Gly476=) | |
| 14 | g.64772700G>C | CA486735466 | SPTB | c.5433C>G (p.Gly1811=) c.1428C>G (p.Gly476=) | |
| 14 | g.64772700G>T | CA486735467 | SPTB | c.5433C>A (p.Gly1811=) c.1428C>A (p.Gly476=) | |
| 14 | g.64772701C>A | CA390040913 | SPTB | c.5432G>T (p.Gly1811Val) c.1427G>T (p.Gly476Val) | |
| 14 | g.64772701C>G | CA390040912 | SPTB | c.5432G>C (p.Gly1811Ala) c.1427G>C (p.Gly476Ala) | |
| 14 | g.64772701C>T | CA390040914 | SPTB | c.5432G>A (p.Gly1811Asp) c.1427G>A (p.Gly476Asp) | |
| 14 | g.64772702C>A | CA390040915 | SPTB | c.5431G>T (p.Gly1811Cys) c.1426G>T (p.Gly476Cys) | |
| 14 | g.64772702C>G | CA390040917 | SPTB | c.5431G>C (p.Gly1811Arg) c.1426G>C (p.Gly476Arg) | |
| 14 | g.64772702C>T | CA390040916 | SPTB | c.5431G>A (p.Gly1811Ser) c.1426G>A (p.Gly476Ser) | gnomAD v4 |
| 14 | g.64772703C>A | CA486735469 | SPTB | c.5430G>T (p.Leu1810=) c.1425G>T (p.Leu475=) | |
| 14 | g.64772703C>G | CA486735470 | SPTB | c.5430G>C (p.Leu1810=) c.1425G>C (p.Leu475=) | |
| 14 | g.64772703C>T | CA486735468 | SPTB | c.5430G>A (p.Leu1810=) c.1425G>A (p.Leu475=) | |
| 14 | g.64772704A>C | CA390040918 | SPTB | c.5429T>G (p.Leu1810Arg) c.1424T>G (p.Leu475Arg) | |
| 14 | g.64772704A>G | CA390040920 | SPTB | c.5429T>C (p.Leu1810Pro) c.1424T>C (p.Leu475Pro) | |
| 14 | g.64772704A>T | CA390040919 | SPTB | c.5429T>A (p.Leu1810Gln) c.1424T>A (p.Leu475Gln) | |
| 14 | g.64772705G>A | CA486735471 | SPTB | c.5428C>T (p.Leu1810=) c.1423C>T (p.Leu475=) | gnomAD v4 |
| 14 | g.64772705G>C | CA390040921 | SPTB | c.5428C>G (p.Leu1810Val) c.1423C>G (p.Leu475Val) | gnomAD v4 |
| 14 | g.64772705G>T | CA390040922 | SPTB | c.5428C>A (p.Leu1810Met) c.1423C>A (p.Leu475Met) | |
| 14 | g.64772706G>A | CA486735472 | SPTB | c.5427C>T (p.Ile1809=) c.1422C>T (p.Ile474=) | dbSNP gnomAD v4 |
| 14 | g.64772706G>C | CA390040923 | SPTB | c.5427C>G (p.Ile1809Met) c.1422C>G (p.Ile474Met) | |
| 14 | g.64772706G= | CA2142803909 | SPTB | c.5427C= (p.Ile1809=) c.1422C= (p.Ile474=) | |
| 14 | g.64772706G>T | CA486735473 | SPTB | c.5427C>A (p.Ile1809=) c.1422C>A (p.Ile474=) | |
| 14 | g.64772707A>C | CA390040924 | SPTB | c.5426T>G (p.Ile1809Ser) c.1421T>G (p.Ile474Ser) | |
| 14 | g.64772707A>G | CA390040925 | SPTB | c.5426T>C (p.Ile1809Thr) c.1421T>C (p.Ile474Thr) | |
| 14 | g.64772707A>T | CA390040926 | SPTB | c.5426T>A (p.Ile1809Asn) c.1421T>A (p.Ile474Asn) | |
| 14 | g.64772708T>A | CA390040927 | SPTB | c.5425A>T (p.Ile1809Phe) c.1420A>T (p.Ile474Phe) | |
| 14 | g.64772708T>C | CA390040928 | SPTB | c.5425A>G (p.Ile1809Val) c.1420A>G (p.Ile474Val) | |
| 14 | g.64772708T>G | CA390040929 | SPTB | c.5425A>C (p.Ile1809Leu) c.1420A>C (p.Ile474Leu) | |
| 14 | g.64772709C>A | CA390040930 | SPTB | c.5424G>T (p.Glu1808Asp) c.1419G>T (p.Glu473Asp) | |
| 14 | g.64772709C= | CA2142803912 | SPTB | c.5424G= (p.Glu1808=) c.1419G= (p.Glu473=) | |
| 14 | g.64772709C>G | CA390040931 | SPTB | c.5424G>C (p.Glu1808Asp) c.1419G>C (p.Glu473Asp) | |
| 14 | g.64772709C>T | CA7229974 | SPTB | c.5424G>A (p.Glu1808=) c.1419G>A (p.Glu473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772710T>A | CA390040932 | SPTB | c.5423A>T (p.Glu1808Val) c.1418A>T (p.Glu473Val) | |
| 14 | g.64772710T>C | CA390040933 | SPTB | c.5423A>G (p.Glu1808Gly) c.1418A>G (p.Glu473Gly) | |
| 14 | g.64772710T>G | CA390040934 | SPTB | c.5423A>C (p.Glu1808Ala) c.1418A>C (p.Glu473Ala) | |
| 14 | g.64772711C>A | CA390040935 | SPTB | c.5422G>T (p.Glu1808Ter) c.1417G>T (p.Glu473Ter) | |
| 14 | g.64772711C= | CA2142803916 | SPTB | c.5422G= (p.Glu1808=) c.1417G= (p.Glu473=) | |
| 14 | g.64772711C>G | CA390040936 | SPTB | c.5422G>C (p.Glu1808Gln) c.1417G>C (p.Glu473Gln) | |
| 14 | g.64772711C>T | CA7229975 | SPTB | c.5422G>A (p.Glu1808Lys) c.1417G>A (p.Glu473Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772712G>A | CA7229976 | SPTB | c.5421C>T (p.Ala1807=) c.1416C>T (p.Ala472=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772712G>C | CA486735474 | SPTB | c.5421C>G (p.Ala1807=) c.1416C>G (p.Ala472=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772712G= | CA2142803920 | SPTB | c.5421C= (p.Ala1807=) c.1416C= (p.Ala472=) | |
| 14 | g.64772712G>T | CA486735475 | SPTB | c.5421C>A (p.Ala1807=) c.1416C>A (p.Ala472=) | |
| 14 | g.64772714_64772715insGCCATGGCCTGGCGGGC | CA2566170865 | SPTB | c.5421_5422insCGCCAGGCCATGGCGCC (p.Glu1808ArgfsTer?) c.1416_1417insCGCCAGGCCATGGCGCC (p.Glu473ArgfsTer?) | |
| 14 | g.64772713G>A | CA390040937 | SPTB | c.5420C>T (p.Ala1807Val) c.1415C>T (p.Ala472Val) | |
| 14 | g.64772713G>C | CA390040938 | SPTB | c.5420C>G (p.Ala1807Gly) c.1415C>G (p.Ala472Gly) | |
| 14 | g.64772713G>T | CA390040939 | SPTB | c.5420C>A (p.Ala1807Asp) c.1415C>A (p.Ala472Asp) | |
| 14 | g.64772714C>A | CA390040940 | SPTB | c.5419G>T (p.Ala1807Ser) c.1414G>T (p.Ala472Ser) | |
| 14 | g.64772714C>G | CA390040941 | SPTB | c.5419G>C (p.Ala1807Pro) c.1414G>C (p.Ala472Pro) | |
| 14 | g.64772714C>T | CA390040942 | SPTB | c.5419G>A (p.Ala1807Thr) c.1414G>A (p.Ala472Thr) | |
| 14 | g.64772715A>C | CA486735476 | SPTB | c.5418T>G (p.Gly1806=) c.1413T>G (p.Gly471=) | |
| 14 | g.64772715A>G | CA486735477 | SPTB | c.5418T>C (p.Gly1806=) c.1413T>C (p.Gly471=) | |
| 14 | g.64772715A>T | CA486735478 | SPTB | c.5418T>A (p.Gly1806=) c.1413T>A (p.Gly471=) | |
| 14 | g.64772716C>A | CA390040943 | SPTB | c.5417G>T (p.Gly1806Val) c.1412G>T (p.Gly471Val) | |
| 14 | g.64772716C= | CA2142803925 | SPTB | c.5417G= (p.Gly1806=) c.1412G= (p.Gly471=) | |
| 14 | g.64772716C>G | CA7229977 | SPTB | c.5417G>C (p.Gly1806Ala) c.1412G>C (p.Gly471Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772716C>T | CA390040944 | SPTB | c.5417G>A (p.Gly1806Asp) c.1412G>A (p.Gly471Asp) | gnomAD v4 |
| 14 | g.64772716_64772717insTGGCGCG | CA2554014945 | SPTB | c.5416_5417insCGCGCCA (p.Gly1806AlafsTer?) c.1411_1412insCGCGCCA (p.Gly471AlafsTer?) | |
| 14 | g.64772717C>A | CA390040947 | SPTB | c.5416G>T (p.Gly1806Cys) c.1411G>T (p.Gly471Cys) | |
| 14 | g.64772717C>G | CA390040946 | SPTB | c.5416G>C (p.Gly1806Arg) c.1411G>C (p.Gly471Arg) | |
| 14 | g.64772717C>T | CA390040945 | SPTB | c.5416G>A (p.Gly1806Ser) c.1411G>A (p.Gly471Ser) | |
| 14 | g.64772718C>A | CA486735479 | SPTB | c.5415G>T (p.Thr1805=) c.1410G>T (p.Thr470=) | |
| 14 | g.64772718C>G | CA486735480 | SPTB | c.5415G>C (p.Thr1805=) c.1410G>C (p.Thr470=) | |
| 14 | g.64772718C>T | CA486735481 | SPTB | c.5415G>A (p.Thr1805=) c.1410G>A (p.Thr470=) | gnomAD v4 COSMIC COSMIC |
| 14 | g.64772719G>A | CA7229978 | SPTB | c.5414C>T (p.Thr1805Met) c.1409C>T (p.Thr470Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772719G>C | CA390040948 | SPTB | c.5414C>G (p.Thr1805Arg) c.1409C>G (p.Thr470Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772719G= | CA2142803929 | SPTB | c.5414C= (p.Thr1805=) c.1409C= (p.Thr470=) | |
| 14 | g.64772719G>T | CA390040949 | SPTB | c.5414C>A (p.Thr1805Lys) c.1409C>A (p.Thr470Lys) | dbSNP gnomAD v4 |
| 14 | g.64772719_64772720insC | CA2567204340 | SPTB | c.5413_5414insG (p.Thr1805SerfsTer?) c.1408_1409insG (p.Thr470SerfsTer?) | |
| 14 | g.64772720T>A | CA262689005 | SPTB | c.5413A>T (p.Thr1805Ser) c.1408A>T (p.Thr470Ser) | dbSNP |
| 14 | g.64772720T>C | CA390040950 | SPTB | c.5413A>G (p.Thr1805Ala) c.1408A>G (p.Thr470Ala) | |
| 14 | g.64772720T>G | CA390040951 | SPTB | c.5413A>C (p.Thr1805Pro) c.1408A>C (p.Thr470Pro) | |
| 14 | g.64772720T= | CA2142803934 | SPTB | c.5413A= (p.Thr1805=) c.1408A= (p.Thr470=) | |
| 14 | g.64772721G>A | CA7229979 | SPTB | c.5412C>T (p.Tyr1804=) c.1407C>T (p.Tyr469=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772721G>C | CA390040952 | SPTB | c.5412C>G (p.Tyr1804Ter) c.1407C>G (p.Tyr469Ter) | |
| 14 | g.64772721G= | CA2142803939 | SPTB | c.5412C= (p.Tyr1804=) c.1407C= (p.Tyr469=) | |
| 14 | g.64772721G>T | CA390040953 | SPTB | c.5412C>A (p.Tyr1804Ter) c.1407C>A (p.Tyr469Ter) | |
| 14 | g.64772721_64772722insCCCGGTGCGCTCCTTCACGGTGGTGGGCGACCTGGCCCAG | CA2515421011 | SPTB | c.5412_5413insTGGGCCAGGTCGCCCACCACCGTGAAGGAGCGCACCGGGC (p.Thr1805TrpfsTer?) c.1407_1408insTGGGCCAGGTCGCCCACCACCGTGAAGGAGCGCACCGGGC (p.Thr470TrpfsTer?) | |
| 14 | g.64772722T>A | CA390040954 | SPTB | c.5411A>T (p.Tyr1804Phe) c.1406A>T (p.Tyr469Phe) | dbSNP |
| 14 | g.64772722T>C | CA390040955 | SPTB | c.5411A>G (p.Tyr1804Cys) c.1406A>G (p.Tyr469Cys) | gnomAD v4 |
| 14 | g.64772722T>G | CA390040956 | SPTB | c.5411A>C (p.Tyr1804Ser) c.1406A>C (p.Tyr469Ser) | |
| 14 | g.64772722T= | CA2142803943 | SPTB | c.5411A= (p.Tyr1804=) c.1406A= (p.Tyr469=) | |
| 14 | g.64772723A>C | CA390040959 | SPTB | c.5410T>G (p.Tyr1804Asp) c.1405T>G (p.Tyr469Asp) | |
| 14 | g.64772723A>G | CA390040957 | SPTB | c.5410T>C (p.Tyr1804His) c.1405T>C (p.Tyr469His) | |
| 14 | g.64772723A>T | CA390040958 | SPTB | c.5410T>A (p.Tyr1804Asn) c.1405T>A (p.Tyr469Asn) | |
| 14 | g.64772723_64772724insCTCGGGCCCCCACGCTCCTGACAGCTGGGGCGAGGTGCTCTCCGCCCTGGG | CA2523395638 | SPTB | c.5409_5410insCCCAGGGCGGAGAGCACCTCGCCCCAGCTGTCAGGAGCGTGGGGGCCCGAG (p.Phe1803_Tyr1804insProArgAlaGluSerThrSerProGlnLeuSerGlyAlaTrpGlyProGlu) c.1404_1405insCCCAGGGCGGAGAGCACCTCGCCCCAGCTGTCAGGAGCGTGGGGGCCCGAG (p.Phe468_Tyr469insProArgAlaGluSerThrSerProGlnLeuSerGlyAlaTrpGlyProGlu) | |
| 14 | g.64772724G>A | CA486735483 | SPTB | c.5409C>T (p.Phe1803=) c.1404C>T (p.Phe468=) | |
| 14 | g.64772724G>C | CA390040960 | SPTB | c.5409C>G (p.Phe1803Leu) c.1404C>G (p.Phe468Leu) | |
| 14 | g.64772724G>T | CA390040961 | SPTB | c.5409C>A (p.Phe1803Leu) c.1404C>A (p.Phe468Leu) | |
| 14 | g.64772725A>C | CA390040962 | SPTB | c.5408T>G (p.Phe1803Cys) c.1403T>G (p.Phe468Cys) | |
| 14 | g.64772725A>G | CA390040963 | SPTB | c.5408T>C (p.Phe1803Ser) c.1403T>C (p.Phe468Ser) | |
| 14 | g.64772725A>T | CA390040964 | SPTB | c.5408T>A (p.Phe1803Tyr) c.1403T>A (p.Phe468Tyr) | |
| 14 | g.64772726A>C | CA390040965 | SPTB | c.5407T>G (p.Phe1803Val) c.1402T>G (p.Phe468Val) | |
| 14 | g.64772726A>G | CA390040966 | SPTB | c.5407T>C (p.Phe1803Leu) c.1402T>C (p.Phe468Leu) | |
| 14 | g.64772726A>T | CA390040967 | SPTB | c.5407T>A (p.Phe1803Ile) c.1402T>A (p.Phe468Ile) | |
| 14 | g.64772727G>A | CA7229980 | SPTB | c.5406C>T (p.Tyr1802=) c.1401C>T (p.Tyr467=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772727G>C | CA390040968 | SPTB | c.5406C>G (p.Tyr1802Ter) c.1401C>G (p.Tyr467Ter) | |
| 14 | g.64772727G= | CA2142803947 | SPTB | c.5406C= (p.Tyr1802=) c.1401C= (p.Tyr467=) | |
| 14 | g.64772727G>T | CA390040969 | SPTB | c.5406C>A (p.Tyr1802Ter) c.1401C>A (p.Tyr467Ter) | |
| 14 | g.64772728T>A | CA390040972 | SPTB | c.5405A>T (p.Tyr1802Phe) c.1400A>T (p.Tyr467Phe) | |
| 14 | g.64772728T>C | CA390040971 | SPTB | c.5405A>G (p.Tyr1802Cys) c.1400A>G (p.Tyr467Cys) | dbSNP |
| 14 | g.64772728T>G | CA390040970 | SPTB | c.5405A>C (p.Tyr1802Ser) c.1400A>C (p.Tyr467Ser) | |
| 14 | g.64772728T= | CA2142803949 | SPTB | c.5405A= (p.Tyr1802=) c.1400A= (p.Tyr467=) | |
| 14 | g.64772729A>C | CA390040973 | SPTB | c.5404T>G (p.Tyr1802Asp) c.1399T>G (p.Tyr467Asp) | |
| 14 | g.64772729A>G | CA390040975 | SPTB | c.5404T>C (p.Tyr1802His) c.1399T>C (p.Tyr467His) | gnomAD v4 |
| 14 | g.64772729A>T | CA390040974 | SPTB | c.5404T>A (p.Tyr1802Asn) c.1399T>A (p.Tyr467Asn) | |
| 14 | g.64772730G>A | CA486735484 | SPTB | c.5403C>T (p.Arg1801=) c.1398C>T (p.Arg466=) | |
| 14 | g.64772730G>C | CA486735485 | SPTB | c.5403C>G (p.Arg1801=) c.1398C>G (p.Arg466=) | |
| 14 | g.64772730G>T | CA486735486 | SPTB | c.5403C>A (p.Arg1801=) c.1398C>A (p.Arg466=) | |
| 14 | g.64772731C>A | CA390040976 | SPTB | c.5402G>T (p.Arg1801Leu) c.1397G>T (p.Arg466Leu) | |
| 14 | g.64772731C= | CA2142803953 | SPTB | c.5402G= (p.Arg1801=) c.1397G= (p.Arg466=) | |
| 14 | g.64772731C>G | CA390040977 | SPTB | c.5402G>C (p.Arg1801Pro) c.1397G>C (p.Arg466Pro) | |
| 14 | g.64772731C>T | CA7229981 | SPTB | c.5402G>A (p.Arg1801His) c.1397G>A (p.Arg466His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772732G>A | CA7229982 | SPTB | c.5401C>T (p.Arg1801Cys) c.1396C>T (p.Arg466Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772732G>C | CA7229983 | SPTB | c.5401C>G (p.Arg1801Gly) c.1396C>G (p.Arg466Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772732G= | CA2142803957 | SPTB | c.5401C= (p.Arg1801=) c.1396C= (p.Arg466=) | |
| 14 | g.64772732G>T | CA390040978 | SPTB | c.5401C>A (p.Arg1801Ser) c.1396C>A (p.Arg466Ser) | |
| 14 | g.64772733G>A | CA486735487 | SPTB | c.5400C>T (p.His1800=) c.1395C>T (p.His465=) | |
| 14 | g.64772733G>C | CA390040979 | SPTB | c.5400C>G (p.His1800Gln) c.1395C>G (p.His465Gln) | gnomAD v4 |
| 14 | g.64772733G>T | CA390040980 | SPTB | c.5400C>A (p.His1800Gln) c.1395C>A (p.His465Gln) | |
| 14 | g.64772734T>A | CA390040981 | SPTB | c.5399A>T (p.His1800Leu) c.1394A>T (p.His465Leu) | |
| 14 | g.64772734T>C | CA390040982 | SPTB | c.5399A>G (p.His1800Arg) c.1394A>G (p.His465Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772734T>G | CA7229984 | SPTB | c.5399A>C (p.His1800Pro) c.1394A>C (p.His465Pro) | dbSNP ExAC gnomAD v2 |
| 14 | g.64772734T= | CA2142803961 | SPTB | c.5399A= (p.His1800=) c.1394A= (p.His465=) | |
| 14 | g.64772735G>A | CA7229985 | SPTB | c.5398C>T (p.His1800Tyr) c.1393C>T (p.His465Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772735G>C | CA390040984 | SPTB | c.5398C>G (p.His1800Asp) c.1393C>G (p.His465Asp) | dbSNP gnomAD v4 |
| 14 | g.64772735G= | CA2142803970 | SPTB | c.5398C= (p.His1800=) c.1393C= (p.His465=) | |
| 14 | g.64772735G>T | CA390040983 | SPTB | c.5398C>A (p.His1800Asn) c.1393C>A (p.His465Asn) | |
| 14 | g.64772736C>A | CA486735488 | SPTB | c.5397G>T (p.Leu1799=) c.1392G>T (p.Leu464=) | |
| 14 | g.64772736C>G | CA486735489 | SPTB | c.5397G>C (p.Leu1799=) c.1392G>C (p.Leu464=) | |
| 14 | g.64772736C>T | CA486735490 | SPTB | c.5397G>A (p.Leu1799=) c.1392G>A (p.Leu464=) | |
| 14 | g.64772737A>C | CA390040985 | SPTB | c.5396T>G (p.Leu1799Arg) c.1391T>G (p.Leu464Arg) | |
| 14 | g.64772737A>G | CA390040986 | SPTB | c.5396T>C (p.Leu1799Pro) c.1391T>C (p.Leu464Pro) | |
| 14 | g.64772737A>T | CA390040987 | SPTB | c.5396T>A (p.Leu1799Gln) c.1391T>A (p.Leu464Gln) | |
| 14 | g.64772738G>A | CA486735491 | SPTB | c.5395C>T (p.Leu1799=) c.1390C>T (p.Leu464=) | dbSNP gnomAD v4 |
| 14 | g.64772738G>C | CA390040988 | SPTB | c.5395C>G (p.Leu1799Val) c.1390C>G (p.Leu464Val) | |
| 14 | g.64772738G= | CA2142803976 | SPTB | c.5395C= (p.Leu1799=) c.1390C= (p.Leu464=) | |
| 14 | g.64772738G>T | CA390040989 | SPTB | c.5395C>A (p.Leu1799Met) c.1390C>A (p.Leu464Met) | |
| 14 | g.64772739G>A | CA486735492 | SPTB | c.5394C>T (p.Asp1798=) c.1389C>T (p.Asp463=) | |
| 14 | g.64772739G>C | CA390040990 | SPTB | c.5394C>G (p.Asp1798Glu) c.1389C>G (p.Asp463Glu) | |
| 14 | g.64772739G>T | CA390040991 | SPTB | c.5394C>A (p.Asp1798Glu) c.1389C>A (p.Asp463Glu) | |
| 14 | g.64772740T>A | CA390040992 | SPTB | c.5393A>T (p.Asp1798Val) c.1388A>T (p.Asp463Val) | |
| 14 | g.64772740T>C | CA390040993 | SPTB | c.5393A>G (p.Asp1798Gly) c.1388A>G (p.Asp463Gly) | |
| 14 | g.64772740T>G | CA390040994 | SPTB | c.5393A>C (p.Asp1798Ala) c.1388A>C (p.Asp463Ala) | |
| 14 | g.64772741C>A | CA390040995 | SPTB | c.5392G>T (p.Asp1798Tyr) c.1387G>T (p.Asp463Tyr) | |
| 14 | g.64772741C>G | CA390040996 | SPTB | c.5392G>C (p.Asp1798His) c.1387G>C (p.Asp463His) | gnomAD v4 |
| 14 | g.64772741C>T | CA390040997 | SPTB | c.5392G>A (p.Asp1798Asn) c.1387G>A (p.Asp463Asn) | |
| 14 | g.64772742A>C | CA390040998 | SPTB | c.5391T>G (p.Tyr1797Ter) c.1386T>G (p.Tyr462Ter) | |
| 14 | g.64772742A>G | CA486735493 | SPTB | c.5391T>C (p.Tyr1797=) c.1386T>C (p.Tyr462=) | gnomAD v4 |
| 14 | g.64772742A>T | CA390040999 | SPTB | c.5391T>A (p.Tyr1797Ter) c.1386T>A (p.Tyr462Ter) | COSMIC COSMIC |
| 14 | g.64772743T>A | CA390041000 | SPTB | c.5390A>T (p.Tyr1797Phe) c.1385A>T (p.Tyr462Phe) | |
| 14 | g.64772743T>C | CA390041001 | SPTB | c.5390A>G (p.Tyr1797Cys) c.1385A>G (p.Tyr462Cys) | gnomAD v4 |
| 14 | g.64772743T>G | CA390041002 | SPTB | c.5390A>C (p.Tyr1797Ser) c.1385A>C (p.Tyr462Ser) | |
| 14 | g.64772744A= | CA2142803981 | SPTB | c.5389T= (p.Tyr1797=) c.1384T= (p.Tyr462=) | |
| 14 | g.64772744A>C | CA390041003 | SPTB | c.5389T>G (p.Tyr1797Asp) c.1384T>G (p.Tyr462Asp) | |
| 14 | g.64772744A>G | CA390041004 | SPTB | c.5389T>C (p.Tyr1797His) c.1384T>C (p.Tyr462His) | dbSNP |
| 14 | g.64772744A>T | CA390041005 | SPTB | c.5389T>A (p.Tyr1797Asn) c.1384T>A (p.Tyr462Asn) | |
| 14 | g.64772745G>A | CA486735497 | SPTB | c.5388C>T (p.Ser1796=) c.1383C>T (p.Ser461=) | |
| 14 | g.64772745G>C | CA486735496 | SPTB | c.5388C>G (p.Ser1796=) c.1383C>G (p.Ser461=) | |
| 14 | g.64772745G>T | CA486735495 | SPTB | c.5388C>A (p.Ser1796=) c.1383C>A (p.Ser461=) | |
| 14 | g.64772746G>A | CA390041006 | SPTB | c.5387C>T (p.Ser1796Phe) c.1382C>T (p.Ser461Phe) | gnomAD v4 COSMIC COSMIC |
| 14 | g.64772746G>C | CA390041007 | SPTB | c.5387C>G (p.Ser1796Cys) c.1382C>G (p.Ser461Cys) | |
| 14 | g.64772746G>T | CA390041008 | SPTB | c.5387C>A (p.Ser1796Tyr) c.1382C>A (p.Ser461Tyr) | COSMIC COSMIC |
| 14 | g.64772747A>C | CA390041009 | SPTB | c.5386T>G (p.Ser1796Ala) c.1381T>G (p.Ser461Ala) | |
| 14 | g.64772747A>G | CA390041010 | SPTB | c.5386T>C (p.Ser1796Pro) c.1381T>C (p.Ser461Pro) | |
| 14 | g.64772747A>T | CA390041011 | SPTB | c.5386T>A (p.Ser1796Thr) c.1381T>A (p.Ser461Thr) | |
| 14 | g.64772748G>A | CA486735500 | SPTB | c.5385C>T (p.Ala1795=) c.1380C>T (p.Ala460=) | |
| 14 | g.64772748G>C | CA486735499 | SPTB | c.5385C>G (p.Ala1795=) c.1380C>G (p.Ala460=) | |
| 14 | g.64772748G>T | CA486735498 | SPTB | c.5385C>A (p.Ala1795=) c.1380C>A (p.Ala460=) | |
| 14 | g.64772749G>A | CA390041014 | SPTB | c.5384C>T (p.Ala1795Val) c.1379C>T (p.Ala460Val) | gnomAD v4 |
| 14 | g.64772749G>C | CA390041013 | SPTB | c.5384C>G (p.Ala1795Gly) c.1379C>G (p.Ala460Gly) | |
| 14 | g.64772749G>T | CA390041012 | SPTB | c.5384C>A (p.Ala1795Asp) c.1379C>A (p.Ala460Asp) | |
| 14 | g.64772750C>A | CA390041015 | SPTB | c.5383G>T (p.Ala1795Ser) c.1378G>T (p.Ala460Ser) | gnomAD v4 |
| 14 | g.64772750C= | CA2142803988 | SPTB | c.5383G= (p.Ala1795=) c.1378G= (p.Ala460=) | |
| 14 | g.64772750C>G | CA390041016 | SPTB | c.5383G>C (p.Ala1795Pro) c.1378G>C (p.Ala460Pro) | |
| 14 | g.64772750C>T | CA7229986 | SPTB | c.5383G>A (p.Ala1795Thr) c.1378G>A (p.Ala460Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772751G>A | CA7229987 | SPTB | c.5382C>T (p.Ala1794=) c.1377C>T (p.Ala459=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772751G>C | CA486735502 | SPTB | c.5382C>G (p.Ala1794=) c.1377C>G (p.Ala459=) | |
| 14 | g.64772751G= | CA2142803996 | SPTB | c.5382C= (p.Ala1794=) c.1377C= (p.Ala459=) | |
| 14 | g.64772751G>T | CA486735501 | SPTB | c.5382C>A (p.Ala1794=) c.1377C>A (p.Ala459=) | |
| 14 | g.64772752dup | CA2625265458 | SPTB | c.5382dup (p.Ala1795ArgfsTer4) c.1377dup (p.Ala460ArgfsTer4) | gnomAD v4 |
| 14 | g.64772752G>A | CA390041017 | SPTB | c.5381C>T (p.Ala1794Val) c.1376C>T (p.Ala459Val) | dbSNP |
| 14 | g.64772752G>C | CA390041018 | SPTB | c.5381C>G (p.Ala1794Gly) c.1376C>G (p.Ala459Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772752G= | CA2142804001 | SPTB | c.5381C= (p.Ala1794=) c.1376C= (p.Ala459=) | |
| 14 | g.64772752G>T | CA390041019 | SPTB | c.5381C>A (p.Ala1794Asp) c.1376C>A (p.Ala459Asp) | |
| 14 | g.64772753C>A | CA390041020 | SPTB | c.5380G>T (p.Ala1794Ser) c.1375G>T (p.Ala459Ser) | |
| 14 | g.64772753C>G | CA390041021 | SPTB | c.5380G>C (p.Ala1794Pro) c.1375G>C (p.Ala459Pro) | |
| 14 | g.64772753C>T | CA390041022 | SPTB | c.5380G>A (p.Ala1794Thr) c.1375G>A (p.Ala459Thr) | gnomAD v4 |
| 14 | g.64772754C>A | CA486735503 | SPTB | c.5379G>T (p.Leu1793=) c.1374G>T (p.Leu458=) | |
| 14 | g.64772754C>G | CA486735504 | SPTB | c.5379G>C (p.Leu1793=) c.1374G>C (p.Leu458=) | |
| 14 | g.64772754C>T | CA486735505 | SPTB | c.5379G>A (p.Leu1793=) c.1374G>A (p.Leu458=) | |
| 14 | g.64772755A>C | CA390041023 | SPTB | c.5378T>G (p.Leu1793Arg) c.1373T>G (p.Leu458Arg) | |
| 14 | g.64772755A>G | CA390041024 | SPTB | c.5378T>C (p.Leu1793Pro) c.1373T>C (p.Leu458Pro) | |
| 14 | g.64772755A>T | CA390041025 | SPTB | c.5378T>A (p.Leu1793Gln) c.1373T>A (p.Leu458Gln) | |
| 14 | g.64772756G>A | CA486735506 | SPTB | c.5377C>T (p.Leu1793=) c.1372C>T (p.Leu458=) | gnomAD v4 |
| 14 | g.64772756G>C | CA390041026 | SPTB | c.5377C>G (p.Leu1793Val) c.1372C>G (p.Leu458Val) | |
| 14 | g.64772756G>T | CA390041027 | SPTB | c.5377C>A (p.Leu1793Met) c.1372C>A (p.Leu458Met) | |
| 14 | g.64772757C>A | CA486735507 | SPTB | c.5376G>T (p.Leu1792=) c.1371G>T (p.Leu457=) | |
| 14 | g.64772757C>G | CA486735508 | SPTB | c.5376G>C (p.Leu1792=) c.1371G>C (p.Leu457=) | |
| 14 | g.64772757C>T | CA486735509 | SPTB | c.5376G>A (p.Leu1792=) c.1371G>A (p.Leu457=) | gnomAD v4 |
| 14 | g.64772758A= | CA2142804004 | SPTB | c.5375T= (p.Leu1792=) c.1370T= (p.Leu457=) | |
| 14 | g.64772758A>C | CA390041028 | SPTB | c.5375T>G (p.Leu1792Arg) c.1370T>G (p.Leu457Arg) | |
| 14 | g.64772758A>G | CA390041029 | SPTB | c.5375T>C (p.Leu1792Pro) c.1370T>C (p.Leu457Pro) | |
| 14 | g.64772758A>T | CA7229988 | SPTB | c.5375T>A (p.Leu1792Gln) c.1370T>A (p.Leu457Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64772759G>A | CA486735511 | SPTB | c.5374C>T (p.Leu1792=) c.1369C>T (p.Leu457=) | |
| 14 | g.64772759G>C | CA390041030 | SPTB | c.5374C>G (p.Leu1792Val) c.1369C>G (p.Leu457Val) | dbSNP gnomAD v4 |
| 14 | g.64772759G= | CA2142804008 | SPTB | c.5374C= (p.Leu1792=) c.1369C= (p.Leu457=) | |
| 14 | g.64772759G>T | CA390041031 | SPTB | c.5374C>A (p.Leu1792Met) c.1369C>A (p.Leu457Met) | |
| 14 | g.64772760C>A | CA390041032 | SPTB | c.5373G>T (p.Gln1791His) c.1368G>T (p.Gln456His) | |
| 14 | g.64772760C>G | CA390041033 | SPTB | c.5373G>C (p.Gln1791His) c.1368G>C (p.Gln456His) | |
| 14 | g.64772760C>T | CA486735512 | SPTB | c.5373G>A (p.Gln1791=) c.1368G>A (p.Gln456=) | |
| 14 | g.64772761T>A | CA390041034 | SPTB | c.5372A>T (p.Gln1791Leu) c.1367A>T (p.Gln456Leu) | |
| 14 | g.64772761T>C | CA390041035 | SPTB | c.5372A>G (p.Gln1791Arg) c.1367A>G (p.Gln456Arg) | |
| 14 | g.64772761T>G | CA390041036 | SPTB | c.5372A>C (p.Gln1791Pro) c.1367A>C (p.Gln456Pro) | |
| 14 | g.64772762G>A | CA390041037 | SPTB | c.5371C>T (p.Gln1791Ter) c.1366C>T (p.Gln456Ter) | gnomAD v4 |
| 14 | g.64772762G>C | CA390041038 | SPTB | c.5371C>G (p.Gln1791Glu) c.1366C>G (p.Gln456Glu) | |
| 14 | g.64772762G>T | CA390041039 | SPTB | c.5371C>A (p.Gln1791Lys) c.1366C>A (p.Gln456Lys) | |
| 14 | g.64772763C>A | CA390041069 | SPTB | c.5370G>T (p.Met1790Ile) c.1365G>T (p.Met455Ile) | |
| 14 | g.64772763C= | CA2142804015 | SPTB | c.5370G= (p.Met1790=) c.1365G= (p.Met455=) | |
| 14 | g.64772763C>G | CA390041070 | SPTB | c.5370G>C (p.Met1790Ile) c.1365G>C (p.Met455Ile) | |
| 14 | g.64772763C>T | CA390041071 | SPTB | c.5370G>A (p.Met1790Ile) c.1365G>A (p.Met455Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772764A>C | CA390041074 | SPTB | c.5369T>G (p.Met1790Arg) c.1364T>G (p.Met455Arg) | |
| 14 | g.64772764A>G | CA390041073 | SPTB | c.5369T>C (p.Met1790Thr) c.1364T>C (p.Met455Thr) | |
| 14 | g.64772764A>T | CA390041072 | SPTB | c.5369T>A (p.Met1790Lys) c.1364T>A (p.Met455Lys) | |
| 14 | g.64772765T>A | CA390041075 | SPTB | c.5368A>T (p.Met1790Leu) c.1363A>T (p.Met455Leu) | |
| 14 | g.64772765T>C | CA262689086 | SPTB | c.5368A>G (p.Met1790Val) c.1363A>G (p.Met455Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772765T>G | CA390041076 | SPTB | c.5368A>C (p.Met1790Leu) c.1363A>C (p.Met455Leu) | |
| 14 | g.64772765T= | CA2142804024 | SPTB | c.5368A= (p.Met1790=) c.1363A= (p.Met455=) | |
| 14 | g.64772766G>A | CA486967798 | SPTB | c.5367C>T (p.Arg1789=) c.1362C>T (p.Arg454=) | dbSNP |
| 14 | g.64772766G>C | CA486967799 | SPTB | c.5367C>G (p.Arg1789=) c.1362C>G (p.Arg454=) | |
| 14 | g.64772766G>T | CA486967800 | SPTB | c.5367C>A (p.Arg1789=) c.1362C>A (p.Arg454=) | |
| 14 | g.64772767C>A | CA390041077 | SPTB | c.5366G>T (p.Arg1789Leu) c.1361G>T (p.Arg454Leu) | |
| 14 | g.64772767C= | CA2142804031 | SPTB | c.5366G= (p.Arg1789=) c.1361G= (p.Arg454=) | |
| 14 | g.64772767C>G | CA390041078 | SPTB | c.5366G>C (p.Arg1789Pro) c.1361G>C (p.Arg454Pro) | |
| 14 | g.64772767C>T | CA262689089 | SPTB | c.5366G>A (p.Arg1789His) c.1361G>A (p.Arg454His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772767_64772768delinsCG | CA2142804032 | SPTB | c.5365_5366delinsCG (p.Arg1789=) c.1360_1361delinsCG (p.Arg454=) | |
| 14 | g.64772768del | CA2142804034 | SPTB | c.5365del (p.Arg1789AlafsTer?) c.1360del (p.Arg454AlafsTer?) | dbSNP |
| 14 | g.64772768G>A | CA7229989 | SPTB | c.5365C>T (p.Arg1789Cys) c.1360C>T (p.Arg454Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772768G>C | CA390041079 | SPTB | c.5365C>G (p.Arg1789Gly) c.1360C>G (p.Arg454Gly) | |
| 14 | g.64772768G= | CA2142804035 | SPTB | c.5365C= (p.Arg1789=) c.1360C= (p.Arg454=) | |
| 14 | g.64772768G>T | CA390041080 | SPTB | c.5365C>A (p.Arg1789Ser) c.1360C>A (p.Arg454Ser) | |
| 14 | g.64772769C>A | CA486967804 | SPTB | c.5364G>T (p.Thr1788=) c.1359G>T (p.Thr453=) | dbSNP |
| 14 | g.64772769C= | CA2142804038 | SPTB | c.5364G= (p.Thr1788=) c.1359G= (p.Thr453=) | |
| 14 | g.64772769C>G | CA486967805 | SPTB | c.5364G>C (p.Thr1788=) c.1359G>C (p.Thr453=) | |
| 14 | g.64772769C>T | CA7229990 | SPTB | c.5364G>A (p.Thr1788=) c.1359G>A (p.Thr453=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772770G>A | CA390041081 | SPTB | c.5363C>T (p.Thr1788Met) c.1358C>T (p.Thr453Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.64772770G>C | CA390041082 | SPTB | c.5363C>G (p.Thr1788Arg) c.1358C>G (p.Thr453Arg) | gnomAD v4 |
| 14 | g.64772770G= | CA2142804041 | SPTB | c.5363C= (p.Thr1788=) c.1358C= (p.Thr453=) | |
| 14 | g.64772770G>T | CA390041083 | SPTB | c.5363C>A (p.Thr1788Lys) c.1358C>A (p.Thr453Lys) | |
| 14 | g.64772772_64772773del | CA2580613700 | SPTB | c.5362_5363del (p.Thr1788AlafsTer10) c.1357_1358del (p.Thr453AlafsTer10) | ClinVar |
| 14 | g.64772771T>A | CA390041085 | SPTB | c.5362A>T (p.Thr1788Ser) c.1357A>T (p.Thr453Ser) | |
| 14 | g.64772771T>C | CA390041086 | SPTB | c.5362A>G (p.Thr1788Ala) c.1357A>G (p.Thr453Ala) | dbSNP |
| 14 | g.64772771T>G | CA390041084 | SPTB | c.5362A>C (p.Thr1788Pro) c.1357A>C (p.Thr453Pro) | |
| 14 | g.64772771T= | CA2142804043 | SPTB | c.5362A= (p.Thr1788=) c.1357A= (p.Thr453=) | |
| 14 | g.64772771dup | CA2695219408 | SPTB | c.5362dup (p.Thr1788AsnfsTer11) c.1357dup (p.Thr453AsnfsTer11) | |
| 14 | g.64772772G>A | CA486967809 | SPTB | c.5361C>T (p.Asp1787=) c.1356C>T (p.Asp452=) | |
| 14 | g.64772772G>C | CA390041087 | SPTB | c.5361C>G (p.Asp1787Glu) c.1356C>G (p.Asp452Glu) | |
| 14 | g.64772772G>T | CA390041088 | SPTB | c.5361C>A (p.Asp1787Glu) c.1356C>A (p.Asp452Glu) | |
| 14 | g.64772773T>A | CA390041089 | SPTB | c.5360A>T (p.Asp1787Val) c.1355A>T (p.Asp452Val) | |
| 14 | g.64772773T>C | CA390041090 | SPTB | c.5360A>G (p.Asp1787Gly) c.1355A>G (p.Asp452Gly) | |
| 14 | g.64772773T>G | CA390041091 | SPTB | c.5360A>C (p.Asp1787Ala) c.1355A>C (p.Asp452Ala) | |
| 14 | g.64772774C>A | CA390041092 | SPTB | c.5359G>T (p.Asp1787Tyr) c.1354G>T (p.Asp452Tyr) | |
| 14 | g.64772774C>G | CA390041093 | SPTB | c.5359G>C (p.Asp1787His) c.1354G>C (p.Asp452His) | |
| 14 | g.64772774C>T | CA390041094 | SPTB | c.5359G>A (p.Asp1787Asn) c.1354G>A (p.Asp452Asn) | |
| 14 | g.64772775A>C | CA390041095 | SPTB | c.5358T>G (p.Ile1786Met) c.1353T>G (p.Ile451Met) | |
| 14 | g.64772775A>G | CA486967814 | SPTB | c.5358T>C (p.Ile1786=) c.1353T>C (p.Ile451=) | |
| 14 | g.64772775A>T | CA486967816 | SPTB | c.5358T>A (p.Ile1786=) c.1353T>A (p.Ile451=) | |
| 14 | g.64772776A= | CA2142804048 | SPTB | c.5357T= (p.Ile1786=) c.1352T= (p.Ile451=) | |
| 14 | g.64772776A>C | CA390041096 | SPTB | c.5357T>G (p.Ile1786Ser) c.1352T>G (p.Ile451Ser) | |
| 14 | g.64772776A>G | CA262689128 | SPTB | c.5357T>C (p.Ile1786Thr) c.1352T>C (p.Ile451Thr) | dbSNP gnomAD v4 |
| 14 | g.64772776A>T | CA390041097 | SPTB | c.5357T>A (p.Ile1786Asn) c.1352T>A (p.Ile451Asn) |