4 | g.87610952C>A | CA357601909 | DSPP | c.44C>A (p.Ala15Asp)
| |
4 | g.87610952C= | CA1474383766 | DSPP | c.44C= (p.Ala15=)
| |
4 | g.87610952C>G | CA357601910 | DSPP | c.44C>G (p.Ala15Gly)
| |
4 | g.87610952C>T | CA126930 | DSPP | c.44C>T (p.Ala15Val)
| ClinVar dbSNP |
4 | g.87610953C>A | CA440253927 | DSPP | c.45C>A (p.Ala15=)
| |
4 | g.87610953C>G | CA440253928 | DSPP | c.45C>G (p.Ala15=)
| |
4 | g.87610953C>T | CA440253929 | DSPP | c.45C>T (p.Ala15=)
| |
4 | g.87610954A>C | CA357601911 | DSPP | c.46A>C (p.Ile16Leu)
| |
4 | g.87610954A>G | CA357601912 | DSPP | c.46A>G (p.Ile16Val)
| gnomAD v4 |
4 | g.87610954A>T | CA357601913 | DSPP | c.46A>T (p.Ile16Phe)
| |
4 | g.87610955T>A | CA357601916 | DSPP | c.47T>A (p.Ile16Asn)
| |
4 | g.87610955T>C | CA357601914 | DSPP | c.47T>C (p.Ile16Thr)
| dbSNP |
4 | g.87610955T>G | CA357601915 | DSPP | c.47T>G (p.Ile16Ser)
| |
4 | g.87610956T>A | CA440253930 | DSPP | c.48T>A (p.Ile16=)
| |
4 | g.87610956T>C | CA440253931 | DSPP | c.48T>C (p.Ile16=)
| |
4 | g.87610956T>G | CA357601917 | DSPP | c.48T>G (p.Ile16Met)
| |
4 | g.87610957C>A | CA126926 | DSPP | c.49C>A (p.Pro17Thr)
| ClinVar dbSNP COSMIC |
4 | g.87610957C= | CA1474383767 | DSPP | c.49C= (p.Pro17=)
| |
4 | g.87610957C>G | CA357601918 | DSPP | c.49C>G (p.Pro17Ala)
| |
4 | g.87610957C>T | CA357601919 | DSPP | c.49C>T (p.Pro17Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.87610958C>A | CA357601920 | DSPP | c.50C>A (p.Pro17Gln)
| |
4 | g.87610958C>G | CA357601921 | DSPP | c.50C>G (p.Pro17Arg)
| |
4 | g.87610958C>T | CA357601922 | DSPP | c.50C>T (p.Pro17Leu)
| ClinVar |
4 | g.87610959A>C | CA440253932 | DSPP | c.51A>C (p.Pro17=)
| |
4 | g.87610959A>G | CA440253933 | DSPP | c.51A>G (p.Pro17=)
| |
4 | g.87610959A>T | CA440253934 | DSPP | c.51A>T (p.Pro17=)
| |
4 | g.87610960G>A | CA357601923 | DSPP | c.51+1G>A (n.51+1G>A)
| |
4 | g.87610960G>C | CA357601924 | DSPP | c.51+1G>C (n.51+1G>C)
| gnomAD v4 |
4 | g.87610960G>T | CA357601925 | DSPP | c.51+1G>T (n.51+1G>T)
| |
4 | g.87610961T>A | CA357601926 | DSPP | c.51+2T>A (n.51+2T>A)
| |
4 | g.87610961T>C | CA357601927 | DSPP | c.51+2T>C (n.51+2T>C)
| |
4 | g.87610961T>G | CA357601928 | DSPP | c.51+2T>G (n.51+2T>G)
| |
4 | g.87610963A= | CA1474383768 | DSPP | c.51+4A= (n.51+4A=)
| |
4 | g.87610963A>C | CA3000797 | DSPP | c.51+4A>C (n.51+4A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87610963A>T | CA2671358116 | DSPP | c.51+4A>T (n.51+4A>T)
| gnomAD v4 |
4 | g.87610964G>A | CA3000798 | DSPP | c.51+5G>A (n.51+5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87610964G= | CA1474383769 | DSPP | c.51+5G= (n.51+5G=)
| |
4 | g.87610965T>A | CA2671358117 | DSPP | c.51+6T>A (n.51+6T>A)
| gnomAD v4 |
4 | g.87610965T>C | CA3000799 | DSPP | c.51+6T>C (n.51+6T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87610965T>G | CA2671358118 | DSPP | c.51+6T>G (n.51+6T>G)
| dbSNP gnomAD v4 |
4 | g.87610965T= | CA1474383770 | DSPP | c.51+6T= (n.51+6T=)
| |
4 | g.87610966A= | CA1474383771 | DSPP | c.51+7A= (n.51+7A=)
| |
4 | g.87610966A>G | CA3000800 | DSPP | c.51+7A>G (n.51+7A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87610967T>C | CA2671358119 | DSPP | c.51+8T>C (n.51+8T>C)
| gnomAD v4 |
4 | g.87610968G>A | CA3000801 | DSPP | c.51+9G>A (n.51+9G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87610968G= | CA1474383772 | DSPP | c.51+9G= (n.51+9G=)
| |
4 | g.87610969C= | CA1474383773 | DSPP | c.51+10C= (n.51+10C=)
| |
4 | g.87610969C>G | CA1474383774 | DSPP | c.51+10C>G (n.51+10C>G)
| dbSNP |
4 | g.87610972T>C | CA2671358120 | DSPP | c.51+13T>C (n.51+13T>C)
| gnomAD v4 |
4 | g.87610975T>C | CA1474383776 | DSPP | c.51+16T>C (n.51+16T>C)
| dbSNP |
4 | g.87610975T= | CA1474383775 | DSPP | c.51+16T= (n.51+16T=)
| |
4 | g.87610976T>C | CA552859221 | DSPP | c.51+17T>C (n.51+17T>C)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87610976T= | CA1474383777 | DSPP | c.51+17T= (n.51+17T=)
| |
4 | g.87610977A>G | CA2671358121 | DSPP | c.51+18A>G (n.51+18A>G)
| gnomAD v4 |
4 | g.87610979A>G | CA2578139679 | DSPP | c.51+20A>G (n.51+20A>G)
| |
4 | g.87610982del | CA2671358122 | DSPP | c.51+23del (n.51+23del)
| gnomAD v4 |
4 | g.87610980A= | CA1474383778 | DSPP | c.51+21A= (n.51+21A=)
| |
4 | g.87610980A>G | CA3000802 | DSPP | c.51+21A>G (n.51+21A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87610983C= | CA1474383779 | DSPP | c.51+24C= (n.51+24C=)
| |
4 | g.87610983C>G | CA799576501 | DSPP | c.51+24C>G (n.51+24C>G)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87610983C>T | CA3000803 | DSPP | c.51+24C>T (n.51+24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87610984C>A | CA2671358123 | DSPP | c.51+25C>A (n.51+25C>A)
| gnomAD v4 |
4 | g.87610984C>T | CA2671358124 | DSPP | c.51+25C>T (n.51+25C>T)
| gnomAD v4 |
4 | g.87610986C>G | CA2671358125 | DSPP | c.51+27C>G (n.51+27C>G)
| gnomAD v4 |
4 | g.87610987T>G | CA2578139680 | DSPP | c.51+28T>G (n.51+28T>G)
| |
4 | g.87610989C>A | CA2671358126 | DSPP | c.51+30C>A (n.51+30C>A)
| gnomAD v4 |
4 | g.87610989C= | CA1474383780 | DSPP | c.51+30C= (n.51+30C=)
| |
4 | g.87610989C>T | CA3000804 | DSPP | c.51+30C>T (n.51+30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87610990A= | CA1474383781 | DSPP | c.51+31A= (n.51+31A=)
| |
4 | g.87610990A>G | CA2671358127 | DSPP | c.51+31A>G (n.51+31A>G)
| gnomAD v4 |
4 | g.87610990A>T | CA552859224 | DSPP | c.51+31A>T (n.51+31A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87610991C= | CA1474383782 | DSPP | c.51+32C= (n.51+32C=)
| |
4 | g.87610991C>G | CA3000805 | DSPP | c.51+32C>G (n.51+32C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87610991C>T | CA799576507 | DSPP | c.51+32C>T (n.51+32C>T)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87610991_87610993dup | CA552859225 | DSPP | c.51+32_51+34dup (n.51+32_51+34dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87610992T>A | CA552859227 | DSPP | c.51+33T>A (n.51+33T>A)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87610992T>C | CA2671358128 | DSPP | c.51+33T>C (n.51+33T>C)
| gnomAD v4 |
4 | g.87610992T= | CA1474383783 | DSPP | c.51+33T= (n.51+33T=)
| |
4 | g.87610993T>C | CA799576510 | DSPP | c.51+34T>C (n.51+34T>C)
| dbSNP |
4 | g.87610993T= | CA1474383784 | DSPP | c.51+34T= (n.51+34T=)
| |
4 | g.87610994T>G | CA2671358129 | DSPP | c.51+35T>G (n.51+35T>G)
| gnomAD v4 |
4 | g.87610995G>T | CA1065114261 | DSPP | c.51+36G>T (n.51+36G>T)
| gnomAD v3 gnomAD v4 |
4 | g.87610996T>C | CA2671358131 | DSPP | c.51+37T>C (n.51+37T>C)
| gnomAD v4 |
4 | g.87610997del | CA2671358130 | DSPP | c.51+38del (n.51+38del)
| gnomAD v4 |
4 | g.87610998A>G | CA2671358132 | DSPP | c.51+39A>G (n.51+39A>G)
| gnomAD v4 |
4 | g.87610999T>C | CA1474383786 | DSPP | c.51+40T>C (n.51+40T>C)
| dbSNP gnomAD v4 |
4 | g.87610999T= | CA1474383785 | DSPP | c.51+40T= (n.51+40T=)
| |
4 | g.87611000C>A | CA2671358133 | DSPP | c.51+41C>A (n.51+41C>A)
| gnomAD v4 |
4 | g.87611000C= | CA1474383787 | DSPP | c.51+41C= (n.51+41C=)
| |
4 | g.87611000C>G | CA1474383788 | DSPP | c.51+41C>G (n.51+41C>G)
| dbSNP |
4 | g.87611001T>A | CA440253935 | DSPP | c.51+42T>A (n.51+42T>A)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87611001T>C | CA2578139681 | DSPP | c.51+42T>C (n.51+42T>C)
| |
4 | g.87611001T= | CA1474383789 | DSPP | c.51+42T= (n.51+42T=)
| |
4 | g.87611006del | CA649136855 | DSPP | c.51+47del (n.51+47del)
| gnomAD v4 COSMIC |
4 | g.87611002T>C | CA2706380071 | DSPP | c.51+43T>C (n.51+43T>C)
| dbSNP |
4 | g.87611006T>A | CA3000806 | DSPP | c.51+47T>A (n.51+47T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611006T= | CA1474383790 | DSPP | c.51+47T= (n.51+47T=)
| |
4 | g.87611007A= | CA1474383791 | DSPP | c.51+48A= (n.51+48A=)
| |
4 | g.87611007A>T | CA100848217 | DSPP | c.51+48A>T (n.51+48A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611008A>T | CA1065114267 | DSPP | c.51+49A>T (n.51+49A>T)
| gnomAD v3 gnomAD v4 |
4 | g.87611009C>A | CA3000807 | DSPP | c.51+50C>A (n.51+50C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611009C= | CA1474383792 | DSPP | c.51+50C= (n.51+50C=)
| |
4 | g.87611009C>T | CA552859230 | DSPP | c.51+50C>T (n.51+50C>T)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87611010del | CA2671358134 | DSPP | c.51+51del (n.51+51del)
| gnomAD v4 |
4 | g.87611010C>A | CA2671358135 | DSPP | c.51+51C>A (n.51+51C>A)
| gnomAD v4 |
4 | g.87611010C= | CA1474383793 | DSPP | c.51+51C= (n.51+51C=)
| |
4 | g.87611010C>T | CA3000808 | DSPP | c.51+51C>T (n.51+51C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611011del | CA2671358136 | DSPP | c.51+52del (n.51+52del)
| gnomAD v4 |
4 | g.87611011T>A | CA2671358137 | DSPP | c.51+52T>A (n.51+52T>A)
| gnomAD v4 |
4 | g.87611014C>A | CA2578139682 | DSPP | c.51+55C>A (n.51+55C>A)
| gnomAD v4 |
4 | g.87611014C= | CA1474383794 | DSPP | c.51+55C= (n.51+55C=)
| |
4 | g.87611014C>T | CA799576525 | DSPP | c.51+55C>T (n.51+55C>T)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611015A= | CA1474383795 | DSPP | c.51+56A= (n.51+56A=)
| |
4 | g.87611015A>G | CA1474383796 | DSPP | c.51+56A>G (n.51+56A>G)
| dbSNP gnomAD v4 |
4 | g.87611015A>T | CA799576527 | DSPP | c.51+56A>T (n.51+56A>T)
| dbSNP gnomAD v4 |
4 | g.87611016_87611018del | CA2671358138 | DSPP | c.51+57_51+59del (n.51+57_51+59del)
| gnomAD v4 |
4 | g.87611016T>A | CA2578139684 | DSPP | c.51+57T>A (n.51+57T>A)
| gnomAD v4 |
4 | g.87611016T>C | CA1065114275 | DSPP | c.51+57T>C (n.51+57T>C)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611016T= | CA1474383797 | DSPP | c.51+57T= (n.51+57T=)
| |
4 | g.87611017T>A | CA2578139685 | DSPP | c.51+58T>A (n.51+58T>A)
| gnomAD v4 |
4 | g.87611017T>C | CA2671358139 | DSPP | c.51+58T>C (n.51+58T>C)
| gnomAD v4 |
4 | g.87611019A= | CA1474383798 | DSPP | c.51+60A= (n.51+60A=)
| |
4 | g.87611019A>G | CA100848223 | DSPP | c.51+60A>G (n.51+60A>G)
| dbSNP |
4 | g.87611020T>A | CA2578139686 | DSPP | c.51+61T>A (n.51+61T>A)
| gnomAD v4 |
4 | g.87611020T>C | CA2671358140 | DSPP | c.51+61T>C (n.51+61T>C)
| gnomAD v4 |
4 | g.87611021A= | CA1474383799 | DSPP | c.51+62A= (n.51+62A=)
| |
4 | g.87611021A>G | CA100848234 | DSPP | c.51+62A>G (n.51+62A>G)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611021A>T | CA2578139687 | DSPP | c.51+62A>T (n.51+62A>T)
| |
4 | g.87611022del | CA2578139688 | DSPP | c.51+63del (n.51+63del)
| |
4 | g.87611022C>A | CA2578139689 | DSPP | c.51+63C>A (n.51+63C>A)
| gnomAD v4 |
4 | g.87611023A= | CA1474383800 | DSPP | c.51+64A= (n.51+64A=)
| |
4 | g.87611023A>G | CA1474383801 | DSPP | c.51+64A>G (n.51+64A>G)
| dbSNP gnomAD v4 |
4 | g.87611026del | CA2578139690 | DSPP | c.51+67del (n.51+67del)
| |
4 | g.87611024A>C | CA2671358141 | DSPP | c.51+65A>C (n.51+65A>C)
| gnomAD v4 |
4 | g.87611025A>T | CA2671358142 | DSPP | c.51+66A>T (n.51+66A>T)
| gnomAD v4 |
4 | g.87611026A>C | CA2671358143 | DSPP | c.51+67A>C (n.51+67A>C)
| gnomAD v4 |
4 | g.87611027T>A | CA2671358144 | DSPP | c.51+68T>A (n.51+68T>A)
| gnomAD v4 |
4 | g.87611027T>C | CA2671358145 | DSPP | c.51+68T>C (n.51+68T>C)
| gnomAD v4 |
4 | g.87611027T>G | CA100848238 | DSPP | c.51+68T>G (n.51+68T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611027T= | CA1474383802 | DSPP | c.51+68T= (n.51+68T=)
| |
4 | g.87611027_87611028insTTTGT | CA2578139691 | DSPP | c.51+68_51+69insTTTGT (n.51+68_51+69insTTTGT)
| |
4 | g.87611028G>A | CA2671358147 | DSPP | c.51+69G>A (n.51+69G>A)
| gnomAD v4 |
4 | g.87611028G>C | CA2671358148 | DSPP | c.51+69G>C (n.51+69G>C)
| gnomAD v4 |
4 | g.87611028G>T | CA2671358146 | DSPP | c.51+69G>T (n.51+69G>T)
| gnomAD v4 |
4 | g.87611029T>A | CA2671358149 | DSPP | c.51+70T>A (n.51+70T>A)
| gnomAD v4 |
4 | g.87611029T>G | CA2671358150 | DSPP | c.51+70T>G (n.51+70T>G)
| gnomAD v4 |
4 | g.87611029T= | CA1474383806 | DSPP | c.51+70T= (n.51+70T=)
| |
4 | g.87611029_87611035delinsTAGTGTG | CA1474383804 | DSPP | c.51+70_51+76delinsTAGTGTG (n.51+70_51+76delinsTAGTGTG)
| |
4 | g.87611029_87611037delinsTAGTGTGTG | CA1474383803 | DSPP | c.51+70_51+78delinsTAGTGTGTG (n.51+70_51+78delinsTAGTGTGTG)
| |
4 | g.87611029_87611041delinsTAGTGTGTGTGTG | CA1474383805 | DSPP | c.51+70_51+82delinsTAGTGTGTGTGTG (n.51+70_51+82delinsTAGTGTGTGTGTG)
| |
4 | g.87611029_87611030insTG | CA2578139696 | DSPP | c.51+70_51+71insTG (n.51+70_51+71insTG)
| gnomAD v4 |
4 | g.87611029_87611030insCGTG | CA1474383810 | DSPP | c.51+70_51+71insCGTG (n.51+70_51+71insCGTG)
| dbSNP |
4 | g.87611029_87611030insTGTG | CA2578139695 | DSPP | c.51+70_51+71insTGTG (n.51+70_51+71insTGTG)
| gnomAD v4 |
4 | g.87611029_87611030insTGTGTG | CA2578139694 | DSPP | c.51+70_51+71insTGTGTG (n.51+70_51+71insTGTGTG)
| gnomAD v4 |
4 | g.87611029_87611030insTGTGTGTG | CA2671358153 | DSPP | c.51+70_51+71insTGTGTGTG (n.51+70_51+71insTGTGTGTG)
| gnomAD v4 |
4 | g.87611029_87611030insGGTGTGTGTG | CA2578139698 | DSPP | c.51+70_51+71insGGTGTGTGTG (n.51+70_51+71insGGTGTGTGTG)
| |
4 | g.87611029_87611030insTGTGTGTGTG | CA2578139693 | DSPP | c.51+70_51+71insTGTGTGTGTG (n.51+70_51+71insTGTGTGTGTG)
| gnomAD v4 |
4 | g.87611029_87611030insTGTGTGTGTGTG | CA2671358152 | DSPP | c.51+70_51+71insTGTGTGTGTGTG (n.51+70_51+71insTGTGTGTGTGTG)
| gnomAD v4 |
4 | g.87611030del | CA2578139697 | DSPP | c.51+71del (n.51+71del)
| gnomAD v4 |
4 | g.87611030A= | CA1474383808 | DSPP | c.51+71A= (n.51+71A=)
| |
4 | g.87611030A>G | CA2671358151 | DSPP | c.51+71A>G (n.51+71A>G)
| gnomAD v4 |
4 | g.87611030A>T | CA799576544 | DSPP | c.51+71A>T (n.51+71A>T)
| dbSNP gnomAD v4 |
4 | g.87611030_87611031del | CA2578139699 | DSPP | c.51+71_51+72del (n.51+71_51+72del)
| gnomAD v4 |
4 | g.87611030_87611031delinsAG | CA1474383807 | DSPP | c.51+71_51+72delinsAG (n.51+71_51+72delinsAG)
| |
4 | g.87611030_87611032delinsAGT | CA2695196102 | DSPP | c.51+71_51+73delinsAGT (n.51+71_51+73delinsAGT)
| |
4 | g.87611030_87611033del | CA2578139692 | DSPP | c.51+71_51+74del (n.51+71_51+74del)
| |
4 | g.87611030_87611034delinsAGTGT | CA2588340157 | DSPP | c.51+71_51+75delinsAGTGT (n.51+71_51+75delinsAGTGT)
| |
4 | g.87611030_87611035del | CA552859232 | DSPP | c.51+71_51+76del (n.51+71_51+76del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611030_87611037del | CA100848249 | DSPP | c.51+71_51+78del (n.51+71_51+78del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611030_87611039del | CA2578139700 | DSPP | c.51+71_51+80del (n.51+71_51+80del)
| gnomAD v4 |
4 | g.87611030_87611041del | CA552859231 | DSPP | c.51+71_51+82del (n.51+71_51+82del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611030_87611042delinsAGTGTGTGTGTGT | CA1474383809 | DSPP | c.51+71_51+83delinsAGTGTGTGTGTGT (n.51+71_51+83delinsAGTGTGTGTGTGT)
| |
4 | g.87611030_87611031insCT | CA2671358163 | DSPP | c.51+71_51+72insCT (n.51+71_51+72insCT)
| gnomAD v4 |
4 | g.87611030_87611031insTTGT | CA440253937 | DSPP | c.51+71_51+72insTTGT (n.51+71_51+72insTTGT)
| |
4 | g.87611030_87611031insTTGTGTGT | CA2578139704 | DSPP | c.51+71_51+72insTTGTGTGT (n.51+71_51+72insTTGTGTGT)
| |
4 | g.87611031del | CA100848296 | DSPP | c.51+72del (n.51+72del)
| dbSNP |
4 | g.87611031G>C | CA799576595 | DSPP | c.51+72G>C (n.51+72G>C)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611031G= | CA1474383811 | DSPP | c.51+72G= (n.51+72G=)
| |
4 | g.87611031_87611032insAGTG | CA2578139702 | DSPP | c.51+72_51+73insAGTG (n.51+72_51+73insAGTG)
| |
4 | g.87611031_87611032insGGTG | CA2578139706 | DSPP | c.51+72_51+73insGGTG (n.51+72_51+73insGGTG)
| |
4 | g.87611031_87611032delinsGT | CA1474383812 | DSPP | c.51+72_51+73delinsGT (n.51+72_51+73delinsGT)
| |
4 | g.87611032_87611033insATGT | CA2671358159 | DSPP | c.51+73_51+74insATGT (n.51+73_51+74insATGT)
| gnomAD v4 |
4 | g.87611032_87611033insCTGT | CA799576563 | DSPP | c.51+73_51+74insCTGT (n.51+73_51+74insCTGT)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611032_87611033insTTGT | CA2671358157 | DSPP | c.51+73_51+74insTTGT (n.51+73_51+74insTTGT)
| gnomAD v4 |
4 | g.87611032_87611033insCTGTGT | CA799576564 | DSPP | c.51+73_51+74insCTGTGT (n.51+73_51+74insCTGTGT)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611032_87611033insCTGTGTGT | CA2671358160 | DSPP | c.51+73_51+74insCTGTGTGT (n.51+73_51+74insCTGTGTGT)
| gnomAD v4 |
4 | g.87611032_87611033insCTGTGTGTGT | CA2671358161 | DSPP | c.51+73_51+74insCTGTGTGTGT (n.51+73_51+74insCTGTGTGTGT)
| gnomAD v4 |
4 | g.87611035_87611036insAGTGTGTGTG | CA2671358162 | DSPP | c.51+76_51+77insAGTGTGTGTG (n.51+76_51+77insAGTGTGTGTG)
| gnomAD v4 |
4 | g.87611036_87611037insCTGTGTGTGT | CA2671358165 | DSPP | c.51+77_51+78insCTGTGTGTGT (n.51+77_51+78insCTGTGTGTGT)
| gnomAD v4 |
4 | g.87611037_87611038insCGTGTGTG | CA2671358164 | DSPP | c.51+78_51+79insCGTGTGTG (n.51+78_51+79insCGTGTGTG)
| gnomAD v4 |
4 | g.87611043_87611044insCGTGTGTGTGTGTG | CA2671358158 | DSPP | c.51+84_51+85insCGTGTGTGTGTGTG (n.51+84_51+85insCGTGTGTGTGTGTG)
| gnomAD v4 |
4 | g.87611043_87611044insAATACAAAATGTAGTGTGTGTGTGTGTGTGTGTGTG | CA1065114331 | DSPP | c.51+84_51+85insAATACAAAATGTAGTGTGTGTGTGTGTGTGTGTGTG (n.51+84_51+85insAATACAAAATGTAGTGTGTGTGTGTGTGTGTGTGTG)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611062_87611063dup | CA100848294 | DSPP | c.51+103_51+104dup (n.51+103_51+104dup)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611060_87611063dup | CA100848286 | DSPP | c.51+101_51+104dup (n.51+101_51+104dup)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611058_87611063dup | CA100848292 | DSPP | c.51+99_51+104dup (n.51+99_51+104dup)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611056_87611063dup | CA799576566 | DSPP | c.51+97_51+104dup (n.51+97_51+104dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611054_87611063dup | CA100848278 | DSPP | c.51+95_51+104dup (n.51+95_51+104dup)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611052_87611063dup | CA799576571 | DSPP | c.51+93_51+104dup (n.51+93_51+104dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611050_87611063dup | CA799576576 | DSPP | c.51+91_51+104dup (n.51+91_51+104dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611048_87611063dup | CA799576577 | DSPP | c.51+89_51+104dup (n.51+89_51+104dup)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611046_87611063dup | CA2671358154 | DSPP | c.51+87_51+104dup (n.51+87_51+104dup)
| gnomAD v4 |
4 | g.87611044_87611063dup | CA2671358155 | DSPP | c.51+85_51+104dup (n.51+85_51+104dup)
| gnomAD v4 |
4 | g.87611042_87611063dup | CA2671358156 | DSPP | c.51+83_51+104dup (n.51+83_51+104dup)
| gnomAD v4 |
4 | g.87611062_87611063del | CA100848282 | DSPP | c.51+103_51+104del (n.51+103_51+104del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611060_87611063del | CA100848300 | DSPP | c.51+101_51+104del (n.51+101_51+104del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611058_87611063del | CA799576581 | DSPP | c.51+99_51+104del (n.51+99_51+104del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611056_87611063del | CA440253936 | DSPP | c.51+97_51+104del (n.51+97_51+104del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611054_87611063del | CA799576588 | DSPP | c.51+95_51+104del (n.51+95_51+104del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611052_87611063del | CA799576591 | DSPP | c.51+93_51+104del (n.51+93_51+104del)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611050_87611063del | CA2578139703 | DSPP | c.51+91_51+104del (n.51+91_51+104del)
| gnomAD v4 |
4 | g.87611048_87611063del | CA1065114321 | DSPP | c.51+89_51+104del (n.51+89_51+104del)
| gnomAD v3 gnomAD v4 |
4 | g.87611046_87611063del | CA2601492202 | DSPP | c.51+87_51+104del (n.51+87_51+104del)
| gnomAD v3 gnomAD v4 |
4 | g.87611032del | CA100848329 | DSPP | c.51+73del (n.51+73del)
| dbSNP gnomAD v4 |
4 | g.87611032T>A | CA1474383814 | DSPP | c.51+73T>A (n.51+73T>A)
| dbSNP gnomAD v4 |
4 | g.87611032T>C | CA1474383813 | DSPP | c.51+73T>C (n.51+73T>C)
| dbSNP |
4 | g.87611032T= | CA1474383815 | DSPP | c.51+73T= (n.51+73T=)
| |
4 | g.87611032_87611033insCT | CA552859237 | DSPP | c.51+73_51+74insCT (n.51+73_51+74insCT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611034_87611035insATGT | CA2671358166 | DSPP | c.51+75_51+76insATGT (n.51+75_51+76insATGT)
| gnomAD v4 |
4 | g.87611036_87611037insTTGTGT | CA2762527023 | DSPP | c.51+77_51+78insTTGTGT (n.51+77_51+78insTTGTGT)
| |
4 | g.87611043_87611094del | CA2671358167 | DSPP | c.51+84_51+135del (n.51+84_51+135del)
| gnomAD v4 |
4 | g.87611032_87611033insTGG | CA2762527029 | DSPP | c.51+73_51+74insTGG (n.51+73_51+74insTGG)
| |
4 | g.87611033del | CA2762527028 | DSPP | c.51+74del (n.51+74del)
| |
4 | g.87611033G>A | CA2762527024 | DSPP | c.51+74G>A (n.51+74G>A)
| |
4 | g.87611033G>C | CA100848331 | DSPP | c.51+74G>C (n.51+74G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611033G= | CA1474383816 | DSPP | c.51+74G= (n.51+74G=)
| |
4 | g.87611033_87611035del | CA2762527027 | DSPP | c.51+74_51+76del (n.51+74_51+76del)
| |
4 | g.87611035_87611036insGGTG | CA2762527030 | DSPP | c.51+76_51+77insGGTG (n.51+76_51+77insGGTG)
| |
4 | g.87611033_87611037del | CA2762527026 | DSPP | c.51+74_51+78del (n.51+74_51+78del)
| |
4 | g.87611033_87611041del | CA2762527025 | DSPP | c.51+74_51+82del (n.51+74_51+82del)
| |
4 | g.87611043_87611044insCGTGTGTGTGTG | CA552859238 | DSPP | c.51+84_51+85insCGTGTGTGTGTG (n.51+84_51+85insCGTGTGTGTGTG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611034T>A | CA2578139707 | DSPP | c.51+75T>A (n.51+75T>A)
| gnomAD v4 |
4 | g.87611034T>C | CA1474383818 | DSPP | c.51+75T>C (n.51+75T>C)
| dbSNP gnomAD v4 |
4 | g.87611034T= | CA1474383817 | DSPP | c.51+75T= (n.51+75T=)
| |
4 | g.87611034_87611035insA | CA1474383819 | DSPP | c.51+75_51+76insA (n.51+75_51+76insA)
| dbSNP |
4 | g.87611035G>A | CA2671358169 | DSPP | c.51+76G>A (n.51+76G>A)
| gnomAD v4 |
4 | g.87611035G>C | CA100848336 | DSPP | c.51+76G>C (n.51+76G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611035G= | CA1474383820 | DSPP | c.51+76G= (n.51+76G=)
| |
4 | g.87611035_87611036insGG | CA2762527031 | DSPP | c.51+76_51+77insGG (n.51+76_51+77insGG)
| |
4 | g.87611037_87611038insGGTG | CA2762527032 | DSPP | c.51+78_51+79insGGTG (n.51+78_51+79insGGTG)
| |
4 | g.87611043_87611044insCGTGTGTGTG | CA2671358168 | DSPP | c.51+84_51+85insCGTGTGTGTG (n.51+84_51+85insCGTGTGTGTG)
| gnomAD v4 |
4 | g.87611036del | CA2706380221 | DSPP | c.51+77del (n.51+77del)
| dbSNP |
4 | g.87611036T>C | CA1474383821 | DSPP | c.51+77T>C (n.51+77T>C)
| dbSNP gnomAD v4 |
4 | g.87611036T>G | CA2762527033 | DSPP | c.51+77T>G (n.51+77T>G)
| |
4 | g.87611036T= | CA1474383824 | DSPP | c.51+77T= (n.51+77T=)
| |
4 | g.87611036_87611037insAT | CA1474383823 | DSPP | c.51+77_51+78insAT (n.51+77_51+78insAT)
| dbSNP |
4 | g.87611036dup | CA2671358170 | DSPP | c.51+77dup (n.51+77dup)
| gnomAD v4 |
4 | g.87611038_87611039insTTGT | CA2671358172 | DSPP | c.51+79_51+80insTTGT (n.51+79_51+80insTTGT)
| dbSNP gnomAD v4 |
4 | g.87611040_87611041insCTGTGT | CA1474383822 | DSPP | c.51+81_51+82insCTGTGT (n.51+81_51+82insCTGTGT)
| dbSNP |
4 | g.87611047_87611094del | CA2671358171 | DSPP | c.51+88_51+135del (n.51+88_51+135del)
| gnomAD v4 |
4 | g.87611037G>A | CA2671358174 | DSPP | c.51+78G>A (n.51+78G>A)
| gnomAD v4 |
4 | g.87611037G>C | CA552859240 | DSPP | c.51+78G>C (n.51+78G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87611037G= | CA1474383825 | DSPP | c.51+78G= (n.51+78G=)
| |
4 | g.87611043_87611044insCGTGTGTG | CA2671358173 | DSPP | c.51+84_51+85insCGTGTGTG (n.51+84_51+85insCGTGTGTG)
| gnomAD v4 |
4 | g.87611038T>C | CA1065114350 | DSPP | c.51+79T>C (n.51+79T>C)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611038T= | CA1474383826 | DSPP | c.51+79T= (n.51+79T=)
| |
4 | g.87611038_87611039insTGTGTGTGTG | CA917246866 | DSPP | c.51+79_51+80insTGTGTGTGTG (n.51+79_51+80insTGTGTGTGTG)
| dbSNP |
4 | g.87611039G>A | CA2671358175 | DSPP | c.51+80G>A (n.51+80G>A)
| gnomAD v4 |
4 | g.87611039G= | CA1474383827 | DSPP | c.51+80G= (n.51+80G=)
| |
4 | g.87611043_87611044insCGTGTG | CA2578139708 | DSPP | c.51+84_51+85insCGTGTG (n.51+84_51+85insCGTGTG)
| gnomAD v4 |
4 | g.87611045_87611046insGGTGTGTG | CA2706380228 | DSPP | c.51+86_51+87insGGTGTGTG (n.51+86_51+87insGGTGTGTG)
| dbSNP |
4 | g.87611040T>A | CA2671358178 | DSPP | c.51+81T>A (n.51+81T>A)
| gnomAD v4 |
4 | g.87611040T>G | CA2762527035 | DSPP | c.51+81T>G (n.51+81T>G)
| |
4 | g.87611040T= | CA1474383829 | DSPP | c.51+81T= (n.51+81T=)
| |
4 | g.87611040_87611041insTT | CA2762527034 | DSPP | c.51+81_51+82insTT (n.51+81_51+82insTT)
| |
4 | g.87611042_87611043insATGT | CA2671358176 | DSPP | c.51+83_51+84insATGT (n.51+83_51+84insATGT)
| gnomAD v4 |
4 | g.87611042_87611043insCTGT | CA1474383828 | DSPP | c.51+83_51+84insCTGT (n.51+83_51+84insCTGT)
| dbSNP |
4 | g.87611051_87611094del | CA2671358177 | DSPP | c.51+92_51+135del (n.51+92_51+135del)
| gnomAD v4 |
4 | g.87611041del | CA2762527036 | DSPP | c.51+82del (n.51+82del)
| |
4 | g.87611041G>A | CA2671358179 | DSPP | c.51+82G>A (n.51+82G>A)
| gnomAD v4 |
4 | g.87611041_87611042insGG | CA2762527037 | DSPP | c.51+82_51+83insGG (n.51+82_51+83insGG)
| |
4 | g.87611043_87611044insCGTG | CA799576606 | DSPP | c.51+84_51+85insCGTG (n.51+84_51+85insCGTG)
| dbSNP gnomAD v4 |
4 | g.87611063_87611064insTGCGTGTGTGTGTGTGTGTGTGTGTG | CA1065114352 | DSPP | c.51+104_51+105insTGCGTGTGTGTGTGTGTGTGTGTGTG (n.51+104_51+105insTGCGTGTGTGTGTGTGTGTGTGTGTG)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611042T>A | CA2578139709 | DSPP | c.51+83T>A (n.51+83T>A)
| |
4 | g.87611042_87611044del | CA2762527038 | DSPP | c.51+83_51+85del (n.51+83_51+85del)
| |
4 | g.87611053_87611094del | CA2671358180 | DSPP | c.51+94_51+135del (n.51+94_51+135del)
| gnomAD v4 |
4 | g.87611043G>A | CA799576617 | DSPP | c.51+84G>A (n.51+84G>A)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87611043G= | CA1474383830 | DSPP | c.51+84G= (n.51+84G=)
| |
4 | g.87611043_87611044insCG | CA2578139710 | DSPP | c.51+84_51+85insCG (n.51+84_51+85insCG)
| gnomAD v4 |
4 | g.87611045_87611046insAGTG | CA2706380233 | DSPP | c.51+86_51+87insAGTG (n.51+86_51+87insAGTG)
| dbSNP |
4 | g.87611043_87611047del | CA2762527039 | DSPP | c.51+84_51+88del (n.51+84_51+88del)
| |
4 | g.87611043_87611044insAATACAAAA | CA2671358181 | DSPP | c.51+84_51+85insAATACAAAA (n.51+84_51+85insAATACAAAA)
| gnomAD v4 |
4 | g.87611044T>A | CA2762527041 | DSPP | c.51+85T>A (n.51+85T>A)
| |
4 | g.87611044T>C | CA100848342 | DSPP | c.51+85T>C (n.51+85T>C)
| dbSNP gnomAD v4 |
4 | g.87611044T= | CA1474383831 | DSPP | c.51+85T= (n.51+85T=)
| |
4 | g.87611046_87611047insTTGT | CA2762527040 | DSPP | c.51+87_51+88insTTGT (n.51+87_51+88insTTGT)
| |
4 | g.87611055_87611094del | CA2671358182 | DSPP | c.51+96_51+135del (n.51+96_51+135del)
| gnomAD v4 |
4 | g.87611045G>A | CA2671358183 | DSPP | c.51+86G>A (n.51+86G>A)
| gnomAD v4 |
4 | g.87611045G= | CA1474383832 | DSPP | c.51+86G= (n.51+86G=)
| |
4 | g.87611045G>T | CA100848352 | DSPP | c.51+86G>T (n.51+86G>T)
| dbSNP |
4 | g.87611047_87611048insAGTG | CA2706380447 | DSPP | c.51+88_51+89insAGTG (n.51+88_51+89insAGTG)
| dbSNP |
4 | g.87611047_87611048insCGTG | CA2578139711 | DSPP | c.51+88_51+89insCGTG (n.51+88_51+89insCGTG)
| gnomAD v4 |
4 | g.87611046T>A | CA2671358185 | DSPP | c.51+87T>A (n.51+87T>A)
| gnomAD v4 |
4 | g.87611057_87611094del | CA2671358184 | DSPP | c.51+98_51+135del (n.51+98_51+135del)
| gnomAD v4 |
4 | g.87611048T>C | CA2578139712 | DSPP | c.51+89T>C (n.51+89T>C)
| |
4 | g.87611050_87611051insTTGT | CA2671358186 | DSPP | c.51+91_51+92insTTGT (n.51+91_51+92insTTGT)
| gnomAD v4 |
4 | g.87611059_87611094del | CA2671358187 | DSPP | c.51+100_51+135del (n.51+100_51+135del)
| gnomAD v4 |
4 | g.87611051_87611052insCGTG | CA2671358188 | DSPP | c.51+92_51+93insCGTG (n.51+92_51+93insCGTG)
| gnomAD v4 |
4 | g.87611050T>C | CA1474383834 | DSPP | c.51+91T>C (n.51+91T>C)
| dbSNP gnomAD v4 |
4 | g.87611050T= | CA1474383833 | DSPP | c.51+91T= (n.51+91T=)
| |
4 | g.87611050_87611051insAT | CA1065114355 | DSPP | c.51+91_51+92insAT (n.51+91_51+92insAT)
| gnomAD v3 gnomAD v4 |
4 | g.87611053_87611054insAGTG | CA2706380479 | DSPP | c.51+94_51+95insAGTG (n.51+94_51+95insAGTG)
| dbSNP |
4 | g.87611052T>C | CA2671358190 | DSPP | c.51+93T>C (n.51+93T>C)
| gnomAD v4 |
4 | g.87611052_87611053insAT | CA2671358189 | DSPP | c.51+93_51+94insAT (n.51+93_51+94insAT)
| gnomAD v4 |
4 | g.87611054_87611055insCTGT | CA2706380489 | DSPP | c.51+95_51+96insCTGT (n.51+95_51+96insCTGT)
| dbSNP |