| 4 | g.87612155G>A | CA440293975 | DSPP | c.102G>A (p.Leu34=)
| |
| 4 | g.87612155G>C | CA100849235 | DSPP | c.102G>C (p.Leu34Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612155G= | CA1474384327 | DSPP | c.102G= (p.Leu34=)
| |
| 4 | g.87612155G>T | CA357602807 | DSPP | c.102G>T (p.Leu34Phe)
| |
| 4 | g.87612156C>A | CA357602810 | DSPP | c.103C>A (p.His35Asn)
| |
| 4 | g.87612156C= | CA1474384328 | DSPP | c.103C= (p.His35=)
| |
| 4 | g.87612156C>G | CA357602808 | DSPP | c.103C>G (p.His35Asp)
| |
| 4 | g.87612156C>T | CA357602809 | DSPP | c.103C>T (p.His35Tyr)
| dbSNP |
| 4 | g.87612157A>C | CA357602811 | DSPP | c.104A>C (p.His35Pro)
| |
| 4 | g.87612157A>G | CA357602812 | DSPP | c.104A>G (p.His35Arg)
| |
| 4 | g.87612157A>T | CA357602813 | DSPP | c.104A>T (p.His35Leu)
| |
| 4 | g.87612158T>A | CA357602814 | DSPP | c.105T>A (p.His35Gln)
| |
| 4 | g.87612158T>C | CA440293980 | DSPP | c.105T>C (p.His35=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612158T>G | CA357602815 | DSPP | c.105T>G (p.His35Gln)
| |
| 4 | g.87612158T= | CA1474384329 | DSPP | c.105T= (p.His35=)
| |
| 4 | g.87612159C>A | CA357602816 | DSPP | c.106C>A (p.Leu36Ile)
| gnomAD v4 |
| 4 | g.87612159C>G | CA357602817 | DSPP | c.106C>G (p.Leu36Val)
| |
| 4 | g.87612159C>T | CA357602818 | DSPP | c.106C>T (p.Leu36Phe)
| gnomAD v4 |
| 4 | g.87612160T>A | CA357602819 | DSPP | c.107T>A (p.Leu36His)
| |
| 4 | g.87612160T>C | CA357602820 | DSPP | c.107T>C (p.Leu36Pro)
| |
| 4 | g.87612160T>G | CA357602821 | DSPP | c.107T>G (p.Leu36Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612160T= | CA1474384330 | DSPP | c.107T= (p.Leu36=)
| |
| 4 | g.87612161C>A | CA440293983 | DSPP | c.108C>A (p.Leu36=)
| |
| 4 | g.87612161C>G | CA440293985 | DSPP | c.108C>G (p.Leu36=)
| |
| 4 | g.87612161C>T | CA440293984 | DSPP | c.108C>T (p.Leu36=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.87612162C>A | CA357602822 | DSPP | c.109C>A (p.Leu37Ile)
| |
| 4 | g.87612162C= | CA1474384331 | DSPP | c.109C= (p.Leu37=)
| |
| 4 | g.87612162C>G | CA357602823 | DSPP | c.109C>G (p.Leu37Val)
| gnomAD v4 |
| 4 | g.87612162C>T | CA440293986 | DSPP | c.109C>T (p.Leu37=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612163T>A | CA357602824 | DSPP | c.110T>A (p.Leu37Gln)
| |
| 4 | g.87612163T>C | CA357602826 | DSPP | c.110T>C (p.Leu37Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612163T>G | CA357602825 | DSPP | c.110T>G (p.Leu37Arg)
| |
| 4 | g.87612163T= | CA1474384332 | DSPP | c.110T= (p.Leu37=)
| |
| 4 | g.87612164A>C | CA440293988 | DSPP | c.111A>C (p.Leu37=)
| |
| 4 | g.87612164A>G | CA440293989 | DSPP | c.111A>G (p.Leu37=)
| |
| 4 | g.87612164A>T | CA440293990 | DSPP | c.111A>T (p.Leu37=)
| |
| 4 | g.87612165G>A | CA357602827 | DSPP | c.112G>A (p.Ala38Thr)
| |
| 4 | g.87612165G>C | CA357602828 | DSPP | c.112G>C (p.Ala38Pro)
| |
| 4 | g.87612165G>T | CA357602829 | DSPP | c.112G>T (p.Ala38Ser)
| |
| 4 | g.87612166C>A | CA3000823 | DSPP | c.113C>A (p.Ala38Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612166C= | CA1474384333 | DSPP | c.113C= (p.Ala38=)
| |
| 4 | g.87612166C>G | CA357602830 | DSPP | c.113C>G (p.Ala38Gly)
| gnomAD v4 |
| 4 | g.87612166C>T | CA357602831 | DSPP | c.113C>T (p.Ala38Val)
| |
| 4 | g.87612167A>C | CA440293995 | DSPP | c.114A>C (p.Ala38=)
| |
| 4 | g.87612167A>G | CA440293996 | DSPP | c.114A>G (p.Ala38=)
| |
| 4 | g.87612167A>T | CA440293997 | DSPP | c.114A>T (p.Ala38=)
| |
| 4 | g.87612168del | CA2573138371 | DSPP | c.115del (p.Arg39AspfsTer10)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.87612168A>C | CA440293998 | DSPP | c.115A>C (p.Arg39=)
| |
| 4 | g.87612168A>G | CA357602832 | DSPP | c.115A>G (p.Arg39Gly)
| |
| 4 | g.87612168A>T | CA357602833 | DSPP | c.115A>T (p.Arg39Ter)
| |
| 4 | g.87612169G>A | CA357602834 | DSPP | c.116G>A (p.Arg39Lys)
| gnomAD v4 |
| 4 | g.87612169G>C | CA357602835 | DSPP | c.116G>C (p.Arg39Thr)
| |
| 4 | g.87612169G>T | CA357602836 | DSPP | c.116G>T (p.Arg39Ile)
| |
| 4 | g.87612170A>C | CA357602837 | DSPP | c.117A>C (p.Arg39Ser)
| |
| 4 | g.87612170A>G | CA440294003 | DSPP | c.117A>G (p.Arg39=)
| |
| 4 | g.87612170A>T | CA357602838 | DSPP | c.117A>T (p.Arg39Ser)
| dbSNP |
| 4 | g.87612171T>A | CA357602841 | DSPP | c.118T>A (p.Ser40Thr)
| |
| 4 | g.87612171T>C | CA357602839 | DSPP | c.118T>C (p.Ser40Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612171T>G | CA357602840 | DSPP | c.118T>G (p.Ser40Ala)
| |
| 4 | g.87612171T= | CA1474384334 | DSPP | c.118T= (p.Ser40=)
| |
| 4 | g.87612172C>A | CA357602842 | DSPP | c.119C>A (p.Ser40Ter)
| gnomAD v4 |
| 4 | g.87612172C>G | CA357602843 | DSPP | c.119C>G (p.Ser40Ter)
| COSMIC |
| 4 | g.87612172C>T | CA357602844 | DSPP | c.119C>T (p.Ser40Leu)
| COSMIC |
| 4 | g.87612173A>C | CA440294006 | DSPP | c.120A>C (p.Ser40=)
| |
| 4 | g.87612173A>G | CA440294007 | DSPP | c.120A>G (p.Ser40=)
| |
| 4 | g.87612173A>T | CA440294008 | DSPP | c.120A>T (p.Ser40=)
| |
| 4 | g.87612174A>C | CA357602845 | DSPP | c.121A>C (p.Asn41His)
| |
| 4 | g.87612174A>G | CA357602846 | DSPP | c.121A>G (p.Asn41Asp)
| |
| 4 | g.87612174A>T | CA357602847 | DSPP | c.121A>T (p.Asn41Tyr)
| |
| 4 | g.87612175A>C | CA357602848 | DSPP | c.122A>C (p.Asn41Thr)
| |
| 4 | g.87612175A>G | CA357602849 | DSPP | c.122A>G (p.Asn41Ser)
| |
| 4 | g.87612175A>T | CA357602850 | DSPP | c.122A>T (p.Asn41Ile)
| |
| 4 | g.87612176T>A | CA357602851 | DSPP | c.123T>A (p.Asn41Lys)
| |
| 4 | g.87612176T>C | CA440294014 | DSPP | c.123T>C (p.Asn41=)
| gnomAD v4 |
| 4 | g.87612176T>G | CA357602852 | DSPP | c.123T>G (p.Asn41Lys)
| |
| 4 | g.87612177G>A | CA100849250 | DSPP | c.124G>A (p.Val42Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612177G>C | CA357602854 | DSPP | c.124G>C (p.Val42Leu)
| |
| 4 | g.87612177G= | CA1474384335 | DSPP | c.124G= (p.Val42=)
| |
| 4 | g.87612177G>T | CA357602853 | DSPP | c.124G>T (p.Val42Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612178T>A | CA357602855 | DSPP | c.125T>A (p.Val42Glu)
| |
| 4 | g.87612178T>C | CA357602857 | DSPP | c.125T>C (p.Val42Ala)
| |
| 4 | g.87612178T>G | CA357602856 | DSPP | c.125T>G (p.Val42Gly)
| |
| 4 | g.87612179G>A | CA440294017 | DSPP | c.126G>A (p.Val42=)
| |
| 4 | g.87612179G>C | CA440294019 | DSPP | c.126G>C (p.Val42=)
| |
| 4 | g.87612179G>T | CA440294021 | DSPP | c.126G>T (p.Val42=)
| |
| 4 | g.87612180T>A | CA357602858 | DSPP | c.127T>A (p.Ser43Thr)
| |
| 4 | g.87612180T>C | CA357602859 | DSPP | c.127T>C (p.Ser43Pro)
| |
| 4 | g.87612180T>G | CA357602860 | DSPP | c.127T>G (p.Ser43Ala)
| |
| 4 | g.87612181C>A | CA357602861 | DSPP | c.128C>A (p.Ser43Ter)
| |
| 4 | g.87612181C>G | CA357602862 | DSPP | c.128C>G (p.Ser43Ter)
| |
| 4 | g.87612181C>T | CA357602863 | DSPP | c.128C>T (p.Ser43Leu)
| |
| 4 | g.87612182A>C | CA440294024 | DSPP | c.129A>C (p.Ser43=)
| |
| 4 | g.87612182A>G | CA440294026 | DSPP | c.129A>G (p.Ser43=)
| |
| 4 | g.87612182A>T | CA440294025 | DSPP | c.129A>T (p.Ser43=)
| |
| 4 | g.87612183G>A | CA357602864 | DSPP | c.130G>A (p.Val44Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612183G>C | CA357602865 | DSPP | c.130G>C (p.Val44Leu)
| |
| 4 | g.87612183G= | CA1474384336 | DSPP | c.130G= (p.Val44=)
| |
| 4 | g.87612183G>T | CA357602866 | DSPP | c.130G>T (p.Val44Leu)
| |
| 4 | g.87612184T>A | CA357602867 | DSPP | c.131T>A (p.Val44Glu)
| |
| 4 | g.87612184T>C | CA357602868 | DSPP | c.131T>C (p.Val44Ala)
| dbSNP gnomAD v4 |
| 4 | g.87612184T>G | CA357602869 | DSPP | c.131T>G (p.Val44Gly)
| |
| 4 | g.87612184T= | CA1474384337 | DSPP | c.131T= (p.Val44=)
| |
| 4 | g.87612185A>C | CA440294030 | DSPP | c.132A>C (p.Val44=)
| |
| 4 | g.87612185A>G | CA440294031 | DSPP | c.132A>G (p.Val44=)
| |
| 4 | g.87612185A>T | CA440294032 | DSPP | c.132A>T (p.Val44=)
| |
| 4 | g.87612186C>A | CA357602871 | DSPP | c.133C>A (p.Gln45Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612186C= | CA1474384338 | DSPP | c.133C= (p.Gln45=)
| |
| 4 | g.87612186C>G | CA357602870 | DSPP | c.133C>G (p.Gln45Glu)
| |
| 4 | g.87612186C>T | CA126924 | DSPP | c.133C>T (p.Gln45Ter)
| ClinVar dbSNP |
| 4 | g.87612187A>C | CA357602872 | DSPP | c.134A>C (p.Gln45Pro)
| |
| 4 | g.87612187A>G | CA357602873 | DSPP | c.134A>G (p.Gln45Arg)
| |
| 4 | g.87612187A>T | CA357602874 | DSPP | c.134A>T (p.Gln45Leu)
| |
| 4 | g.87612188G>A | CA440294044 | DSPP | c.135G>A (p.Gln45=)
| ClinVar |
| 4 | g.87612188G>C | CA357602875 | DSPP | c.135G>C (p.Gln45His)
| |
| 4 | g.87612188G>T | CA357602876 | DSPP | c.135G>T (p.Gln45His)
| |
| 4 | g.87612189G>A | CA357602877 | DSPP | c.135+1G>A (n.135+1G>A)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.87612189G>C | CA357602878 | DSPP | c.135+1G>C (n.135+1G>C)
| ClinVar |
| 4 | g.87612189G= | CA1474384339 | DSPP | c.135+1G= (n.135+1G=)
| |
| 4 | g.87612189G>T | CA357602879 | DSPP | c.135+1G>T (n.135+1G>T)
| |
| 4 | g.87612190T>A | CA357602880 | DSPP | c.135+2T>A (n.135+2T>A)
| |
| 4 | g.87612190T>C | CA357602881 | DSPP | c.135+2T>C (n.135+2T>C)
| |
| 4 | g.87612190T>G | CA357602882 | DSPP | c.135+2T>G (n.135+2T>G)
| |
| 4 | g.87612191A>G | CA2695203460 | DSPP | c.135+3A>G (n.135+3A>G)
| |
| 4 | g.87612192T>G | CA2578139762 | DSPP | c.135+4T>G (n.135+4T>G)
| gnomAD v4 |
| 4 | g.87612195del | CA2671358355 | DSPP | c.135+7del (n.135+7del)
| gnomAD v4 |
| 4 | g.87612195G>A | CA2671358356 | DSPP | c.135+7G>A (n.135+7G>A)
| gnomAD v4 |
| 4 | g.87612195G>C | CA2578139763 | DSPP | c.135+7G>C (n.135+7G>C)
| gnomAD v4 |
| 4 | g.87612195_87612196delinsGA | CA1474384340 | DSPP | c.135+7_135+8delinsGA (n.135+7_135+8delinsGA)
| |
| 4 | g.87612196del | CA553085306 | DSPP | c.135+8del (n.135+8del)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612196A= | CA1474384341 | DSPP | c.135+8A= (n.135+8A=)
| |
| 4 | g.87612196A>G | CA553085305 | DSPP | c.135+8A>G (n.135+8A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612197T>A | CA2671358357 | DSPP | c.135+9T>A (n.135+9T>A)
| gnomAD v4 |
| 4 | g.87612198G>A | CA3000824 | DSPP | c.135+10G>A (n.135+10G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612198G= | CA1474384342 | DSPP | c.135+10G= (n.135+10G=)
| |
| 4 | g.87612201A>G | CA2671358358 | DSPP | c.135+13A>G (n.135+13A>G)
| gnomAD v4 |
| 4 | g.87612202T>C | CA553085307 | DSPP | c.135+14T>C (n.135+14T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612202T= | CA1474384343 | DSPP | c.135+14T= (n.135+14T=)
| |
| 4 | g.87612203A>G | CA2671358359 | DSPP | c.135+15A>G (n.135+15A>G)
| gnomAD v4 |
| 4 | g.87612204T>C | CA553085308 | DSPP | c.135+16T>C (n.135+16T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612204T= | CA1474384344 | DSPP | c.135+16T= (n.135+16T=)
| |
| 4 | g.87612206T>G | CA2671358360 | DSPP | c.135+18T>G (n.135+18T>G)
| gnomAD v4 |
| 4 | g.87612207T>G | CA553085309 | DSPP | c.135+19T>G (n.135+19T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612207T= | CA1474384345 | DSPP | c.135+19T= (n.135+19T=)
| |
| 4 | g.87612209C>A | CA2706381740 | DSPP | c.135+21C>A (n.135+21C>A)
| dbSNP |
| 4 | g.87612211T>C | CA2671358361 | DSPP | c.135+23T>C (n.135+23T>C)
| gnomAD v4 |
| 4 | g.87612212T>C | CA2578139764 | DSPP | c.135+24T>C (n.135+24T>C)
| |
| 4 | g.87612213T>A | CA2671358362 | DSPP | c.135+25T>A (n.135+25T>A)
| gnomAD v4 |
| 4 | g.87612214T>C | CA3000825 | DSPP | c.135+26T>C (n.135+26T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612214T= | CA1474384346 | DSPP | c.135+26T= (n.135+26T=)
| |
| 4 | g.87612215A= | CA1474384347 | DSPP | c.135+27A= (n.135+27A=)
| |
| 4 | g.87612215A>G | CA2578139765 | DSPP | c.135+27A>G (n.135+27A>G)
| gnomAD v4 |
| 4 | g.87612215A>T | CA553085310 | DSPP | c.135+27A>T (n.135+27A>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612219C>T | CA2548603003 | DSPP | c.135+31C>T (n.135+31C>T)
| |
| 4 | g.87612222A= | CA1474384348 | DSPP | c.135+34A= (n.135+34A=)
| |
| 4 | g.87612222A>G | CA3000826 | DSPP | c.135+34A>G (n.135+34A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612223T>C | CA3000827 | DSPP | c.135+35T>C (n.135+35T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612223T= | CA1474384349 | DSPP | c.135+35T= (n.135+35T=)
| |
| 4 | g.87612224T>G | CA2601492296 | DSPP | c.135+36T>G (n.135+36T>G)
| gnomAD v3 gnomAD v4 |
| 4 | g.87612227T>G | CA2578139766 | DSPP | c.135+39T>G (n.135+39T>G)
| |
| 4 | g.87612228G>T | CA2519489630 | DSPP | c.135+40G>T (n.135+40G>T)
| |
| 4 | g.87612229A>T | CA2671358363 | DSPP | c.135+41A>T (n.135+41A>T)
| gnomAD v4 |
| 4 | g.87612230G>T | CA2671358364 | DSPP | c.135+42G>T (n.135+42G>T)
| gnomAD v4 |
| 4 | g.87612231T>C | CA100849259 | DSPP | c.135+43T>C (n.135+43T>C)
| dbSNP gnomAD v4 |
| 4 | g.87612231T= | CA1474384350 | DSPP | c.135+43T= (n.135+43T=)
| |
| 4 | g.87612232T>G | CA1474384351 | DSPP | c.135+44T>G (n.135+44T>G)
| dbSNP gnomAD v4 |
| 4 | g.87612232T= | CA1474384352 | DSPP | c.135+44T= (n.135+44T=)
| |
| 4 | g.87612233G>A | CA1474384354 | DSPP | c.135+45G>A (n.135+45G>A)
| dbSNP gnomAD v4 |
| 4 | g.87612233G= | CA1474384353 | DSPP | c.135+45G= (n.135+45G=)
| |
| 4 | g.87612233G>T | CA2578139767 | DSPP | c.135+45G>T (n.135+45G>T)
| gnomAD v4 |
| 4 | g.87612234C= | CA1474384355 | DSPP | c.135+46C= (n.135+46C=)
| |
| 4 | g.87612234C>T | CA799577309 | DSPP | c.135+46C>T (n.135+46C>T)
| dbSNP |
| 4 | g.87612235T>C | CA2671358365 | DSPP | c.135+47T>C (n.135+47T>C)
| gnomAD v4 |
| 4 | g.87612236A= | CA1474384356 | DSPP | c.135+48A= (n.135+48A=)
| |
| 4 | g.87612236A>G | CA2671358366 | DSPP | c.135+48A>G (n.135+48A>G)
| gnomAD v4 |
| 4 | g.87612236A>T | CA799577312 | DSPP | c.135+48A>T (n.135+48A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612237C>T | CA2671358367 | DSPP | c.135+49C>T (n.135+49C>T)
| gnomAD v4 |
| 4 | g.87612238A= | CA1474384357 | DSPP | c.135+50A= (n.135+50A=)
| |
| 4 | g.87612238A>G | CA3000828 | DSPP | c.135+50A>G (n.135+50A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612239T>G | CA2762527065 | DSPP | c.135+51T>G (n.135+51T>G)
| |
| 4 | g.87612243A= | CA1474384358 | DSPP | c.135+55A= (n.135+55A=)
| |
| 4 | g.87612243A>G | CA1065114893 | DSPP | c.135+55A>G (n.135+55A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612248C>T | CA2671358368 | DSPP | c.135+60C>T (n.135+60C>T)
| gnomAD v4 |
| 4 | g.87612251C= | CA1474384359 | DSPP | c.135+63C= (n.135+63C=)
| |
| 4 | g.87612251C>T | CA1065114904 | DSPP | c.135+63C>T (n.135+63C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612252T>C | CA2706381766 | DSPP | c.135+64T>C (n.135+64T>C)
| dbSNP |
| 4 | g.87612253C= | CA1474384360 | DSPP | c.135+65C= (n.135+65C=)
| |
| 4 | g.87612253C>G | CA2671358369 | DSPP | c.135+65C>G (n.135+65C>G)
| gnomAD v4 |
| 4 | g.87612253C>T | CA799577314 | DSPP | c.135+65C>T (n.135+65C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612255A= | CA1474384361 | DSPP | c.136-67A= (n.136-67A=)
| |
| 4 | g.87612255A>C | CA1474384362 | DSPP | c.136-67A>C (n.136-67A>C)
| dbSNP |
