| 4 | g.87612081_87612103del | CA2695203458 | DSPP | c.52-24_52-2del (n.52-24_52-2del)
| |
| 4 | g.87612102C>A | CA553085304 | DSPP | c.52-3C>A (n.52-3C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612102C= | CA1474384304 | DSPP | c.52-3C= (n.52-3C=)
| |
| 4 | g.87612102C>G | CA658820884 | DSPP | c.52-3C>G (n.52-3C>G)
| |
| 4 | g.87612102C>T | CA2578139757 | DSPP | c.52-3C>T (n.52-3C>T)
| gnomAD v4 |
| 4 | g.87612103del | CA2580071856 | DSPP | c.52-2del (n.52-2del)
| ClinVar |
| 4 | g.87612103A>C | CA357602688 | DSPP | c.52-2A>C (n.52-2A>C)
| |
| 4 | g.87612103A>G | CA357602689 | DSPP | c.52-2A>G (n.52-2A>G)
| ClinVar dbSNP |
| 4 | g.87612103A>T | CA357602690 | DSPP | c.52-2A>T (n.52-2A>T)
| |
| 4 | g.87612104G>A | CA357602691 | DSPP | c.52-1G>A (n.52-1G>A)
| gnomAD v4 |
| 4 | g.87612104G>C | CA16605124 | DSPP | c.52-1G>C (n.52-1G>C)
| ClinVar dbSNP |
| 4 | g.87612104G= | CA1474384305 | DSPP | c.52-1G= (n.52-1G=)
| |
| 4 | g.87612104G>T | CA357602692 | DSPP | c.52-1G>T (n.52-1G>T)
| |
| 4 | g.87612105del | CA2580071857 | DSPP | c.52del
| ClinVar |
| 4 | g.87612105G>A | CA357602694 | DSPP | c.52G>A (p.Val18Ile)
| |
| 4 | g.87612105G>C | CA357602693 | DSPP | c.52G>C (p.Val18Leu)
| |
| 4 | g.87612105G= | CA1474384306 | DSPP | c.52G= (p.Val18=)
| |
| 4 | g.87612105G>T | CA126927 | DSPP | c.52G>T (p.Val18Phe)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.87612106T>A | CA357602695 | DSPP | c.53T>A (p.Val18Asp)
| ClinVar dbSNP |
| 4 | g.87612106T>C | CA357602696 | DSPP | c.53T>C (p.Val18Ala)
| ClinVar |
| 4 | g.87612106T>G | CA357602697 | DSPP | c.53T>G (p.Val18Gly)
| ClinVar dbSNP |
| 4 | g.87612106T= | CA1474384307 | DSPP | c.53T= (p.Val18=)
| |
| 4 | g.87612107T>A | CA440293867 | DSPP | c.54T>A (p.Val18=)
| |
| 4 | g.87612107T>C | CA440293868 | DSPP | c.54T>C (p.Val18=)
| |
| 4 | g.87612107T>G | CA440293870 | DSPP | c.54T>G (p.Val18=)
| |
| 4 | g.87612108C>A | CA357602698 | DSPP | c.55C>A (p.Pro19Thr)
| gnomAD v4 |
| 4 | g.87612108C>G | CA357602699 | DSPP | c.55C>G (p.Pro19Ala)
| |
| 4 | g.87612108C>T | CA357602700 | DSPP | c.55C>T (p.Pro19Ser)
| gnomAD v4 |
| 4 | g.87612109C>A | CA357602701 | DSPP | c.56C>A (p.Pro19His)
| |
| 4 | g.87612109C>G | CA357602702 | DSPP | c.56C>G (p.Pro19Arg)
| |
| 4 | g.87612109C>T | CA357602703 | DSPP | c.56C>T (p.Pro19Leu)
| |
| 4 | g.87612110T>A | CA440293878 | DSPP | c.57T>A (p.Pro19=)
| |
| 4 | g.87612110T>C | CA440293881 | DSPP | c.57T>C (p.Pro19=)
| |
| 4 | g.87612110T>G | CA440293879 | DSPP | c.57T>G (p.Pro19=)
| |
| 4 | g.87612111C>A | CA357602704 | DSPP | c.58C>A (p.Gln20Lys)
| |
| 4 | g.87612111C= | CA1474384308 | DSPP | c.58C= (p.Gln20=)
| |
| 4 | g.87612111C>G | CA357602705 | DSPP | c.58C>G (p.Gln20Glu)
| |
| 4 | g.87612111C>T | CA357602706 | DSPP | c.58C>T (p.Gln20Ter)
| dbSNP gnomAD v4 |
| 4 | g.87612112A>C | CA357602709 | DSPP | c.59A>C (p.Gln20Pro)
| |
| 4 | g.87612112A>G | CA357602708 | DSPP | c.59A>G (p.Gln20Arg)
| |
| 4 | g.87612112A>T | CA357602707 | DSPP | c.59A>T (p.Gln20Leu)
| gnomAD v4 |
| 4 | g.87612113A= | CA1474384309 | DSPP | c.60A= (p.Gln20=)
| |
| 4 | g.87612113A>C | CA357602710 | DSPP | c.60A>C (p.Gln20His)
| |
| 4 | g.87612113A>G | CA440293888 | DSPP | c.60A>G (p.Gln20=)
| dbSNP |
| 4 | g.87612113A>T | CA357602711 | DSPP | c.60A>T (p.Gln20His)
| |
| 4 | g.87612114A= | CA1474384310 | DSPP | c.61A= (p.Ser21=)
| |
| 4 | g.87612114A>C | CA357602712 | DSPP | c.61A>C (p.Ser21Arg)
| |
| 4 | g.87612114A>G | CA357602713 | DSPP | c.61A>G (p.Ser21Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612114A>T | CA357602714 | DSPP | c.61A>T (p.Ser21Cys)
| |
| 4 | g.87612115G>A | CA357602715 | DSPP | c.62G>A (p.Ser21Asn)
| |
| 4 | g.87612115G>C | CA357602716 | DSPP | c.62G>C (p.Ser21Thr)
| |
| 4 | g.87612115G>T | CA357602717 | DSPP | c.62G>T (p.Ser21Ile)
| COSMIC |
| 4 | g.87612116C>A | CA3000817 | DSPP | c.63C>A (p.Ser21Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612116C= | CA1474384311 | DSPP | c.63C= (p.Ser21=)
| |
| 4 | g.87612116C>G | CA357602718 | DSPP | c.63C>G (p.Ser21Arg)
| |
| 4 | g.87612116C>T | CA440293899 | DSPP | c.63C>T (p.Ser21=)
| |
| 4 | g.87612117A>C | CA357602719 | DSPP | c.64A>C (p.Lys22Gln)
| |
| 4 | g.87612117A>G | CA357602720 | DSPP | c.64A>G (p.Lys22Glu)
| |
| 4 | g.87612117A>T | CA357602721 | DSPP | c.64A>T (p.Lys22Ter)
| |
| 4 | g.87612118A= | CA1474384312 | DSPP | c.65A= (p.Lys22=)
| |
| 4 | g.87612118A>C | CA100849185 | DSPP | c.65A>C (p.Lys22Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612118A>G | CA357602723 | DSPP | c.65A>G (p.Lys22Arg)
| |
| 4 | g.87612118A>T | CA357602722 | DSPP | c.65A>T (p.Lys22Ile)
| |
| 4 | g.87612119A= | CA1474384313 | DSPP | c.66A= (p.Lys22=)
| |
| 4 | g.87612119A>C | CA357602724 | DSPP | c.66A>C (p.Lys22Asn)
| |
| 4 | g.87612119A>G | CA440293906 | DSPP | c.66A>G (p.Lys22=)
| gnomAD v4 |
| 4 | g.87612119A>T | CA357602725 | DSPP | c.66A>T (p.Lys22Asn)
| dbSNP |
| 4 | g.87612120C>A | CA357602726 | DSPP | c.67C>A (p.Pro23Thr)
| |
| 4 | g.87612120C= | CA1474384314 | DSPP | c.67C= (p.Pro23=)
| |
| 4 | g.87612120C>G | CA357602727 | DSPP | c.67C>G (p.Pro23Ala)
| |
| 4 | g.87612120C>T | CA100849188 | DSPP | c.67C>T (p.Pro23Ser)
| dbSNP gnomAD v4 |
| 4 | g.87612121C>A | CA357602728 | DSPP | c.68C>A (p.Pro23Gln)
| |
| 4 | g.87612121C= | CA1474384315 | DSPP | c.68C= (p.Pro23=)
| |
| 4 | g.87612121C>G | CA357602729 | DSPP | c.68C>G (p.Pro23Arg)
| gnomAD v4 |
| 4 | g.87612121C>T | CA357602730 | DSPP | c.68C>T (p.Pro23Leu)
| dbSNP gnomAD v4 |
| 4 | g.87612122A>C | CA440293912 | DSPP | c.69A>C (p.Pro23=)
| |
| 4 | g.87612122A>G | CA440293914 | DSPP | c.69A>G (p.Pro23=)
| |
| 4 | g.87612122A>T | CA440293915 | DSPP | c.69A>T (p.Pro23=)
| |
| 4 | g.87612123C>A | CA357602731 | DSPP | c.70C>A (p.Leu24Met)
| |
| 4 | g.87612123C= | CA1474384316 | DSPP | c.70C= (p.Leu24=)
| |
| 4 | g.87612123C>G | CA357602732 | DSPP | c.70C>G (p.Leu24Val)
| |
| 4 | g.87612123C>T | CA440293916 | DSPP | c.70C>T (p.Leu24=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612124T>A | CA357602735 | DSPP | c.71T>A (p.Leu24Gln)
| |
| 4 | g.87612124T>C | CA357602734 | DSPP | c.71T>C (p.Leu24Pro)
| dbSNP gnomAD v4 |
| 4 | g.87612124T>G | CA357602733 | DSPP | c.71T>G (p.Leu24Arg)
| |
| 4 | g.87612124T= | CA1474384317 | DSPP | c.71T= (p.Leu24=)
| |
| 4 | g.87612125G>A | CA440293921 | DSPP | c.72G>A (p.Leu24=)
| ClinVar gnomAD v4 COSMIC |
| 4 | g.87612125G>C | CA440293922 | DSPP | c.72G>C (p.Leu24=)
| |
| 4 | g.87612125G>T | CA440293923 | DSPP | c.72G>T (p.Leu24=)
| |
| 4 | g.87612126G>A | CA357602736 | DSPP | c.73G>A (p.Glu25Lys)
| COSMIC |
| 4 | g.87612126G>C | CA357602738 | DSPP | c.73G>C (p.Glu25Gln)
| |
| 4 | g.87612126G>T | CA357602737 | DSPP | c.73G>T (p.Glu25Ter)
| |
| 4 | g.87612127A>C | CA357602739 | DSPP | c.74A>C (p.Glu25Ala)
| |
| 4 | g.87612127A>G | CA357602740 | DSPP | c.74A>G (p.Glu25Gly)
| |
| 4 | g.87612127A>T | CA357602741 | DSPP | c.74A>T (p.Glu25Val)
| |
| 4 | g.87612128G>A | CA3000818 | DSPP | c.75G>A (p.Glu25=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.87612128G>C | CA357602742 | DSPP | c.75G>C (p.Glu25Asp)
| |
| 4 | g.87612128G= | CA1474384318 | DSPP | c.75G= (p.Glu25=)
| |
| 4 | g.87612128G>T | CA357602743 | DSPP | c.75G>T (p.Glu25Asp)
| |
| 4 | g.87612129A>C | CA440293930 | DSPP | c.76A>C (p.Arg26=)
| |
| 4 | g.87612129A>G | CA357602744 | DSPP | c.76A>G (p.Arg26Gly)
| |
| 4 | g.87612129A>T | CA357602745 | DSPP | c.76A>T (p.Arg26Ter)
| |
| 4 | g.87612130G>A | CA357602746 | DSPP | c.77G>A (p.Arg26Lys)
| |
| 4 | g.87612130G>C | CA357602747 | DSPP | c.77G>C (p.Arg26Thr)
| |
| 4 | g.87612130G>T | CA357602748 | DSPP | c.77G>T (p.Arg26Ile)
| |
| 4 | g.87612131A>C | CA357602750 | DSPP | c.78A>C (p.Arg26Ser)
| |
| 4 | g.87612131A>G | CA440293936 | DSPP | c.78A>G (p.Arg26=)
| |
| 4 | g.87612131A>T | CA357602749 | DSPP | c.78A>T (p.Arg26Ser)
| |
| 4 | g.87612132C>A | CA357602751 | DSPP | c.79C>A (p.His27Asn)
| |
| 4 | g.87612132C>G | CA357602752 | DSPP | c.79C>G (p.His27Asp)
| |
| 4 | g.87612132C>T | CA357602753 | DSPP | c.79C>T (p.His27Tyr)
| |
| 4 | g.87612133A= | CA1474384319 | DSPP | c.80A= (p.His27=)
| |
| 4 | g.87612133A>C | CA357602754 | DSPP | c.80A>C (p.His27Pro)
| |
| 4 | g.87612133A>G | CA3000819 | DSPP | c.80A>G (p.His27Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612133A>T | CA357602755 | DSPP | c.80A>T (p.His27Leu)
| |
| 4 | g.87612134T>A | CA357602756 | DSPP | c.81T>A (p.His27Gln)
| |
| 4 | g.87612134T>C | CA440293945 | DSPP | c.81T>C (p.His27=)
| |
| 4 | g.87612134T>G | CA357602757 | DSPP | c.81T>G (p.His27Gln)
| |
| 4 | g.87612135G>A | CA357602758 | DSPP | c.82G>A (p.Val28Ile)
| gnomAD v4 |
| 4 | g.87612135G>C | CA357602759 | DSPP | c.82G>C (p.Val28Leu)
| |
| 4 | g.87612135G>T | CA357602760 | DSPP | c.82G>T (p.Val28Phe)
| |
| 4 | g.87612136T>A | CA357602762 | DSPP | c.83T>A (p.Val28Asp)
| dbSNP |
| 4 | g.87612136T>C | CA357602763 | DSPP | c.83T>C (p.Val28Ala)
| |
| 4 | g.87612136T>G | CA357602761 | DSPP | c.83T>G (p.Val28Gly)
| |
| 4 | g.87612136T= | CA1474384320 | DSPP | c.83T= (p.Val28=)
| |
| 4 | g.87612137C>A | CA440293952 | DSPP | c.84C>A (p.Val28=)
| |
| 4 | g.87612137C= | CA1474384321 | DSPP | c.84C= (p.Val28=)
| |
| 4 | g.87612137C>G | CA440293950 | DSPP | c.84C>G (p.Val28=)
| |
| 4 | g.87612137C>T | CA3000820 | DSPP | c.84C>T (p.Val28=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612138G>A | CA3000821 | DSPP | c.85G>A (p.Glu29Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612138G>C | CA357602765 | DSPP | c.85G>C (p.Glu29Gln)
| |
| 4 | g.87612138G= | CA1474384322 | DSPP | c.85G= (p.Glu29=)
| |
| 4 | g.87612138G>T | CA357602766 | DSPP | c.85G>T (p.Glu29Ter)
| gnomAD v4 |
| 4 | g.87612139A>C | CA357602767 | DSPP | c.86A>C (p.Glu29Ala)
| |
| 4 | g.87612139A>G | CA357602768 | DSPP | c.86A>G (p.Glu29Gly)
| gnomAD v4 |
| 4 | g.87612139A>T | CA357602769 | DSPP | c.86A>T (p.Glu29Val)
| |
| 4 | g.87612143dup | CA2578139761 | DSPP | c.90dup (p.Ser31IlefsTer17)
| |
| 4 | g.87612140A>C | CA357602770 | DSPP | c.87A>C (p.Glu29Asp)
| |
| 4 | g.87612140A>G | CA440293957 | DSPP | c.87A>G (p.Glu29=)
| |
| 4 | g.87612140A>T | CA357602771 | DSPP | c.87A>T (p.Glu29Asp)
| |
| 4 | g.87612141A>C | CA357602772 | DSPP | c.88A>C (p.Lys30Gln)
| |
| 4 | g.87612141A>G | CA357602773 | DSPP | c.88A>G (p.Lys30Glu)
| |
| 4 | g.87612141A>T | CA357602774 | DSPP | c.88A>T (p.Lys30Ter)
| |
| 4 | g.87612142A>C | CA357602776 | DSPP | c.89A>C (p.Lys30Thr)
| |
| 4 | g.87612142A>G | CA357602777 | DSPP | c.89A>G (p.Lys30Arg)
| |
| 4 | g.87612142A>T | CA357602775 | DSPP | c.89A>T (p.Lys30Ile)
| |
| 4 | g.87612143A>C | CA357602778 | DSPP | c.90A>C (p.Lys30Asn)
| |
| 4 | g.87612143A>G | CA440293961 | DSPP | c.90A>G (p.Lys30=)
| |
| 4 | g.87612143A>T | CA357602779 | DSPP | c.90A>T (p.Lys30Asn)
| |
| 4 | g.87612144T>A | CA357602780 | DSPP | c.91T>A (p.Ser31Thr)
| |
| 4 | g.87612144T>C | CA3000822 | DSPP | c.91T>C (p.Ser31Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612144T>G | CA357602781 | DSPP | c.91T>G (p.Ser31Ala)
| |
| 4 | g.87612144T= | CA1474384323 | DSPP | c.91T= (p.Ser31=)
| |
| 4 | g.87612145C>A | CA357602784 | DSPP | c.92C>A (p.Ser31Tyr)
| |
| 4 | g.87612145C>G | CA357602782 | DSPP | c.92C>G (p.Ser31Cys)
| |
| 4 | g.87612145C>T | CA357602783 | DSPP | c.92C>T (p.Ser31Phe)
| gnomAD v4 |
| 4 | g.87612146C>A | CA440293965 | DSPP | c.93C>A (p.Ser31=)
| |
| 4 | g.87612146C= | CA1474384324 | DSPP | c.93C= (p.Ser31=)
| |
| 4 | g.87612146C>G | CA440293966 | DSPP | c.93C>G (p.Ser31=)
| |
| 4 | g.87612146C>T | CA100849228 | DSPP | c.93C>T (p.Ser31=)
| dbSNP |
| 4 | g.87612147A>C | CA357602785 | DSPP | c.94A>C (p.Met32Leu)
| |
| 4 | g.87612147A>G | CA357602786 | DSPP | c.94A>G (p.Met32Val)
| dbSNP gnomAD v4 |
| 4 | g.87612147A>T | CA357602787 | DSPP | c.94A>T (p.Met32Leu)
| |
| 4 | g.87612148T>A | CA357602788 | DSPP | c.95T>A (p.Met32Lys)
| |
| 4 | g.87612148T>C | CA357602789 | DSPP | c.95T>C (p.Met32Thr)
| |
| 4 | g.87612148T>G | CA357602790 | DSPP | c.95T>G (p.Met32Arg)
| |
| 4 | g.87612149G>A | CA357602792 | DSPP | c.96G>A (p.Met32Ile)
| |
| 4 | g.87612149G>C | CA357602793 | DSPP | c.96G>C (p.Met32Ile)
| |
| 4 | g.87612149G>T | CA357602791 | DSPP | c.96G>T (p.Met32Ile)
| |
| 4 | g.87612150A= | CA1474384325 | DSPP | c.97A= (p.Asn33=)
| |
| 4 | g.87612150A>C | CA357602796 | DSPP | c.97A>C (p.Asn33His)
| dbSNP gnomAD v4 |
| 4 | g.87612150A>G | CA357602794 | DSPP | c.97A>G (p.Asn33Asp)
| |
| 4 | g.87612150A>T | CA357602795 | DSPP | c.97A>T (p.Asn33Tyr)
| |
| 4 | g.87612151A>C | CA357602797 | DSPP | c.98A>C (p.Asn33Thr)
| |
| 4 | g.87612151A>G | CA357602798 | DSPP | c.98A>G (p.Asn33Ser)
| |
| 4 | g.87612151A>T | CA357602799 | DSPP | c.98A>T (p.Asn33Ile)
| |
| 4 | g.87612152T>A | CA357602800 | DSPP | c.99T>A (p.Asn33Lys)
| |
| 4 | g.87612152T>C | CA440293971 | DSPP | c.99T>C (p.Asn33=)
| |
| 4 | g.87612152T>G | CA357602801 | DSPP | c.99T>G (p.Asn33Lys)
| |
| 4 | g.87612153T>A | CA357602802 | DSPP | c.100T>A (p.Leu34Met)
| |
| 4 | g.87612153T>C | CA440293973 | DSPP | c.100T>C (p.Leu34=)
| |
| 4 | g.87612153T>G | CA357602803 | DSPP | c.100T>G (p.Leu34Val)
| |
| 4 | g.87612154T>A | CA357602804 | DSPP | c.101T>A (p.Leu34Ter)
| |
| 4 | g.87612154T>C | CA357602805 | DSPP | c.101T>C (p.Leu34Ser)
| dbSNP |
| 4 | g.87612154T>G | CA357602806 | DSPP | c.101T>G (p.Leu34Trp)
| |
| 4 | g.87612154T= | CA1474384326 | DSPP | c.101T= (p.Leu34=)
| |
| 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=)
| |
