Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100341828G>C | CA2447955640 | PCDH19 | c.2707+75C>G (n.2707+75C>G) c.2848+75C>G (n.2848+75C>G) c.2704+75C>G (n.2704+75C>G) c.2845+75C>G (n.2845+75C>G) | dbSNP gnomAD v4 |
X | g.100341828G= | CA2447955639 | PCDH19 | c.2707+75C= (n.2707+75C=) c.2848+75C= (n.2848+75C=) c.2704+75C= (n.2704+75C=) c.2845+75C= (n.2845+75C=) | |
X | g.100341828G>T | CA2579659176 | PCDH19 | c.2707+75C>A (n.2707+75C>A) c.2848+75C>A (n.2848+75C>A) c.2704+75C>A (n.2704+75C>A) c.2845+75C>A (n.2845+75C>A) | gnomAD v4 |
X | g.100341829T>C | CA2822655080 | PCDH19 | c.2707+74A>G (n.2707+74A>G) c.2848+74A>G (n.2848+74A>G) c.2704+74A>G (n.2704+74A>G) c.2845+74A>G (n.2845+74A>G) | |
X | g.100341830A>T | CA2579659177 | PCDH19 | c.2707+73T>A (n.2707+73T>A) c.2848+73T>A (n.2848+73T>A) c.2704+73T>A (n.2704+73T>A) c.2845+73T>A (n.2845+73T>A) | gnomAD v4 |
X | g.100341831G>A | CA2579659178 | PCDH19 | c.2707+72C>T (n.2707+72C>T) c.2848+72C>T (n.2848+72C>T) c.2704+72C>T (n.2704+72C>T) c.2845+72C>T (n.2845+72C>T) | |
X | g.100341831G>T | CA2694250680 | PCDH19 | c.2707+72C>A (n.2707+72C>A) c.2848+72C>A (n.2848+72C>A) c.2704+72C>A (n.2704+72C>A) c.2845+72C>A (n.2845+72C>A) | gnomAD v4 |
X | g.100341832T>C | CA2579659179 | PCDH19 | c.2707+71A>G (n.2707+71A>G) c.2848+71A>G (n.2848+71A>G) c.2704+71A>G (n.2704+71A>G) c.2845+71A>G (n.2845+71A>G) | |
X | g.100341833A= | CA2447955641 | PCDH19 | c.2707+70T= (n.2707+70T=) c.2848+70T= (n.2848+70T=) c.2704+70T= (n.2704+70T=) c.2845+70T= (n.2845+70T=) | |
X | g.100341833A>G | CA869216674 | PCDH19 | c.2707+70T>C (n.2707+70T>C) c.2848+70T>C (n.2848+70T>C) c.2704+70T>C (n.2704+70T>C) c.2845+70T>C (n.2845+70T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100341835A>T | CA2579659180 | PCDH19 | c.2707+68T>A (n.2707+68T>A) c.2848+68T>A (n.2848+68T>A) c.2704+68T>A (n.2704+68T>A) c.2845+68T>A (n.2845+68T>A) | |
X | g.100341836G>A | CA2694250681 | PCDH19 | c.2707+67C>T (n.2707+67C>T) c.2848+67C>T (n.2848+67C>T) c.2704+67C>T (n.2704+67C>T) c.2845+67C>T (n.2845+67C>T) | gnomAD v4 |
X | g.100341836G>C | CA643538067 | PCDH19 | c.2707+67C>G (n.2707+67C>G) c.2848+67C>G (n.2848+67C>G) c.2704+67C>G (n.2704+67C>G) c.2845+67C>G (n.2845+67C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341836G= | CA2447955642 | PCDH19 | c.2707+67C= (n.2707+67C=) c.2848+67C= (n.2848+67C=) c.2704+67C= (n.2704+67C=) c.2845+67C= (n.2845+67C=) | |
X | g.100341836G>T | CA2694250682 | PCDH19 | c.2707+67C>A (n.2707+67C>A) c.2848+67C>A (n.2848+67C>A) c.2704+67C>A (n.2704+67C>A) c.2845+67C>A (n.2845+67C>A) | gnomAD v4 |
X | g.100341838G>A | CA2579659181 | PCDH19 | c.2707+65C>T (n.2707+65C>T) c.2848+65C>T (n.2848+65C>T) c.2704+65C>T (n.2704+65C>T) c.2845+65C>T (n.2845+65C>T) | |
X | g.100341838G>T | CA2694250683 | PCDH19 | c.2707+65C>A (n.2707+65C>A) c.2848+65C>A (n.2848+65C>A) c.2704+65C>A (n.2704+65C>A) c.2845+65C>A (n.2845+65C>A) | gnomAD v4 |
X | g.100341840G= | CA2447955643 | PCDH19 | c.2707+63C= (n.2707+63C=) c.2848+63C= (n.2848+63C=) c.2704+63C= (n.2704+63C=) c.2845+63C= (n.2845+63C=) | |
X | g.100341840G>T | CA333821203 | PCDH19 | c.2707+63C>A (n.2707+63C>A) c.2848+63C>A (n.2848+63C>A) c.2704+63C>A (n.2704+63C>A) c.2845+63C>A (n.2845+63C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341841C>A | CA2694250684 | PCDH19 | c.2707+62G>T (n.2707+62G>T) c.2848+62G>T (n.2848+62G>T) c.2704+62G>T (n.2704+62G>T) c.2845+62G>T (n.2845+62G>T) | gnomAD v4 |
X | g.100341841C>T | CA2694250685 | PCDH19 | c.2707+62G>A (n.2707+62G>A) c.2848+62G>A (n.2848+62G>A) c.2704+62G>A (n.2704+62G>A) c.2845+62G>A (n.2845+62G>A) | gnomAD v4 |
X | g.100341843T>A | CA643538068 | PCDH19 | c.2707+60A>T (n.2707+60A>T) c.2848+60A>T (n.2848+60A>T) c.2704+60A>T (n.2704+60A>T) c.2845+60A>T (n.2845+60A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100341843T>C | CA2694250687 | PCDH19 | c.2707+60A>G (n.2707+60A>G) c.2848+60A>G (n.2848+60A>G) c.2704+60A>G (n.2704+60A>G) c.2845+60A>G (n.2845+60A>G) | gnomAD v4 |
X | g.100341843T>G | CA2694250686 | PCDH19 | c.2707+60A>C (n.2707+60A>C) c.2848+60A>C (n.2848+60A>C) c.2704+60A>C (n.2704+60A>C) c.2845+60A>C (n.2845+60A>C) | gnomAD v4 |
X | g.100341843T= | CA2447955644 | PCDH19 | c.2707+60A= (n.2707+60A=) c.2848+60A= (n.2848+60A=) c.2704+60A= (n.2704+60A=) c.2845+60A= (n.2845+60A=) | |
X | g.100341844A= | CA2447955645 | PCDH19 | c.2707+59T= (n.2707+59T=) c.2848+59T= (n.2848+59T=) c.2704+59T= (n.2704+59T=) c.2845+59T= (n.2845+59T=) | |
X | g.100341844A>G | CA658388781 | PCDH19 | c.2707+59T>C (n.2707+59T>C) c.2848+59T>C (n.2848+59T>C) c.2704+59T>C (n.2704+59T>C) c.2845+59T>C (n.2845+59T>C) | dbSNP gnomAD v4 COSMIC |
X | g.100341845C= | CA2447955646 | PCDH19 | c.2707+58G= (n.2707+58G=) c.2848+58G= (n.2848+58G=) c.2704+58G= (n.2704+58G=) c.2845+58G= (n.2845+58G=) | |
X | g.100341845C>T | CA1135800706 | PCDH19 | c.2707+58G>A (n.2707+58G>A) c.2848+58G>A (n.2848+58G>A) c.2704+58G>A (n.2704+58G>A) c.2845+58G>A (n.2845+58G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100341848del | CA2694250688 | PCDH19 | c.2707+57del (n.2707+57del) c.2848+57del (n.2848+57del) c.2704+57del (n.2704+57del) c.2845+57del (n.2845+57del) | gnomAD v4 |
X | g.100341849C>T | CA2579659182 | PCDH19 | c.2707+54G>A (n.2707+54G>A) c.2848+54G>A (n.2848+54G>A) c.2704+54G>A (n.2704+54G>A) c.2845+54G>A (n.2845+54G>A) | |
X | g.100341853T>C | CA869216680 | PCDH19 | c.2707+50A>G (n.2707+50A>G) c.2848+50A>G (n.2848+50A>G) c.2704+50A>G (n.2704+50A>G) c.2845+50A>G (n.2845+50A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100341853T>G | CA2822655081 | PCDH19 | c.2707+50A>C (n.2707+50A>C) c.2848+50A>C (n.2848+50A>C) c.2704+50A>C (n.2704+50A>C) c.2845+50A>C (n.2845+50A>C) | |
X | g.100341853T= | CA2447955647 | PCDH19 | c.2707+50A= (n.2707+50A=) c.2848+50A= (n.2848+50A=) c.2704+50A= (n.2704+50A=) c.2845+50A= (n.2845+50A=) | |
X | g.100341854T>C | CA2694250689 | PCDH19 | c.2707+49A>G (n.2707+49A>G) c.2848+49A>G (n.2848+49A>G) c.2704+49A>G (n.2704+49A>G) c.2845+49A>G (n.2845+49A>G) | gnomAD v4 |
X | g.100341854T>G | CA2694250690 | PCDH19 | c.2707+49A>C (n.2707+49A>C) c.2848+49A>C (n.2848+49A>C) c.2704+49A>C (n.2704+49A>C) c.2845+49A>C (n.2845+49A>C) | gnomAD v4 |
X | g.100341855G>T | CA2579659183 | PCDH19 | c.2707+48C>A (n.2707+48C>A) c.2848+48C>A (n.2848+48C>A) c.2704+48C>A (n.2704+48C>A) c.2845+48C>A (n.2845+48C>A) | gnomAD v4 |
X | g.100341856G>A | CA2694250691 | PCDH19 | c.2707+47C>T (n.2707+47C>T) c.2848+47C>T (n.2848+47C>T) c.2704+47C>T (n.2704+47C>T) c.2845+47C>T (n.2845+47C>T) | gnomAD v4 |
X | g.100341856G>T | CA2694250692 | PCDH19 | c.2707+47C>A (n.2707+47C>A) c.2848+47C>A (n.2848+47C>A) c.2704+47C>A (n.2704+47C>A) c.2845+47C>A (n.2845+47C>A) | gnomAD v4 |
X | g.100341857G>A | CA2694250693 | PCDH19 | c.2707+46C>T (n.2707+46C>T) c.2848+46C>T (n.2848+46C>T) c.2704+46C>T (n.2704+46C>T) c.2845+46C>T (n.2845+46C>T) | gnomAD v4 |
X | g.100341857G>T | CA2579659184 | PCDH19 | c.2707+46C>A (n.2707+46C>A) c.2848+46C>A (n.2848+46C>A) c.2704+46C>A (n.2704+46C>A) c.2845+46C>A (n.2845+46C>A) | gnomAD v4 |
X | g.100341858T>A | CA2694250694 | PCDH19 | c.2707+45A>T (n.2707+45A>T) c.2848+45A>T (n.2848+45A>T) c.2704+45A>T (n.2704+45A>T) c.2845+45A>T (n.2845+45A>T) | gnomAD v4 |
X | g.100341859T>A | CA2694250695 | PCDH19 | c.2707+44A>T (n.2707+44A>T) c.2848+44A>T (n.2848+44A>T) c.2704+44A>T (n.2704+44A>T) c.2845+44A>T (n.2845+44A>T) | gnomAD v4 |
X | g.100341859T>C | CA10468700 | PCDH19 | c.2707+44A>G (n.2707+44A>G) c.2848+44A>G (n.2848+44A>G) c.2704+44A>G (n.2704+44A>G) c.2845+44A>G (n.2845+44A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341859T= | CA2447955648 | PCDH19 | c.2707+44A= (n.2707+44A=) c.2848+44A= (n.2848+44A=) c.2704+44A= (n.2704+44A=) c.2845+44A= (n.2845+44A=) | |
X | g.100341860C>T | CA2579659185 | PCDH19 | c.2707+43G>A (n.2707+43G>A) c.2848+43G>A (n.2848+43G>A) c.2704+43G>A (n.2704+43G>A) c.2845+43G>A (n.2845+43G>A) | |
X | g.100341861T>C | CA2447955650 | PCDH19 | c.2707+42A>G (n.2707+42A>G) c.2848+42A>G (n.2848+42A>G) c.2704+42A>G (n.2704+42A>G) c.2845+42A>G (n.2845+42A>G) | dbSNP gnomAD v4 |
X | g.100341861T= | CA2447955649 | PCDH19 | c.2707+42A= (n.2707+42A=) c.2848+42A= (n.2848+42A=) c.2704+42A= (n.2704+42A=) c.2845+42A= (n.2845+42A=) | |
X | g.100341864G>T | CA2694250696 | PCDH19 | c.2707+39C>A (n.2707+39C>A) c.2848+39C>A (n.2848+39C>A) c.2704+39C>A (n.2704+39C>A) c.2845+39C>A (n.2845+39C>A) | gnomAD v4 |
X | g.100341865G>A | CA2579659186 | PCDH19 | c.2707+38C>T (n.2707+38C>T) c.2848+38C>T (n.2848+38C>T) c.2704+38C>T (n.2704+38C>T) c.2845+38C>T (n.2845+38C>T) | gnomAD v4 |
X | g.100341865G>T | CA2694250697 | PCDH19 | c.2707+38C>A (n.2707+38C>A) c.2848+38C>A (n.2848+38C>A) c.2704+38C>A (n.2704+38C>A) c.2845+38C>A (n.2845+38C>A) | gnomAD v4 |
X | g.100341866A>C | CA2694250698 | PCDH19 | c.2707+37T>G (n.2707+37T>G) c.2848+37T>G (n.2848+37T>G) c.2704+37T>G (n.2704+37T>G) c.2845+37T>G (n.2845+37T>G) | gnomAD v4 |
X | g.100341866A>T | CA2694250699 | PCDH19 | c.2707+37T>A (n.2707+37T>A) c.2848+37T>A (n.2848+37T>A) c.2704+37T>A (n.2704+37T>A) c.2845+37T>A (n.2845+37T>A) | gnomAD v4 |
X | g.100341867G>T | CA2694250700 | PCDH19 | c.2707+36C>A (n.2707+36C>A) c.2848+36C>A (n.2848+36C>A) c.2704+36C>A (n.2704+36C>A) c.2845+36C>A (n.2845+36C>A) | gnomAD v4 |
X | g.100341868T>C | CA1135800715 | PCDH19 | c.2707+35A>G (n.2707+35A>G) c.2848+35A>G (n.2848+35A>G) c.2704+35A>G (n.2704+35A>G) c.2845+35A>G (n.2845+35A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100341868T= | CA2447955651 | PCDH19 | c.2707+35A= (n.2707+35A=) c.2848+35A= (n.2848+35A=) c.2704+35A= (n.2704+35A=) c.2845+35A= (n.2845+35A=) | |
X | g.100341869C>T | CA2579659187 | PCDH19 | c.2707+34G>A (n.2707+34G>A) c.2848+34G>A (n.2848+34G>A) c.2704+34G>A (n.2704+34G>A) c.2845+34G>A (n.2845+34G>A) | gnomAD v4 |
X | g.100341870G>A | CA10468701 | PCDH19 | c.2707+33C>T (n.2707+33C>T) c.2848+33C>T (n.2848+33C>T) c.2704+33C>T (n.2704+33C>T) c.2845+33C>T (n.2845+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341870G>C | CA2822655082 | PCDH19 | c.2707+33C>G (n.2707+33C>G) c.2848+33C>G (n.2848+33C>G) c.2704+33C>G (n.2704+33C>G) c.2845+33C>G (n.2845+33C>G) | |
X | g.100341870G= | CA2447955652 | PCDH19 | c.2707+33C= (n.2707+33C=) c.2848+33C= (n.2848+33C=) c.2704+33C= (n.2704+33C=) c.2845+33C= (n.2845+33C=) | |
X | g.100341870G>T | CA2579659188 | PCDH19 | c.2707+33C>A (n.2707+33C>A) c.2848+33C>A (n.2848+33C>A) c.2704+33C>A (n.2704+33C>A) c.2845+33C>A (n.2845+33C>A) | gnomAD v4 |
X | g.100341872T>C | CA10468702 | PCDH19 | c.2707+31A>G (n.2707+31A>G) c.2848+31A>G (n.2848+31A>G) c.2704+31A>G (n.2704+31A>G) c.2845+31A>G (n.2845+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341872T>G | CA2694250701 | PCDH19 | c.2707+31A>C (n.2707+31A>C) c.2848+31A>C (n.2848+31A>C) c.2704+31A>C (n.2704+31A>C) c.2845+31A>C (n.2845+31A>C) | gnomAD v4 |
X | g.100341872T= | CA2447955653 | PCDH19 | c.2707+31A= (n.2707+31A=) c.2848+31A= (n.2848+31A=) c.2704+31A= (n.2704+31A=) c.2845+31A= (n.2845+31A=) | |
X | g.100341873T>A | CA2568586823 | PCDH19 | c.2707+30A>T (n.2707+30A>T) c.2848+30A>T (n.2848+30A>T) c.2704+30A>T (n.2704+30A>T) c.2845+30A>T (n.2845+30A>T) | |
X | g.100341873T>G | CA2694250702 | PCDH19 | c.2707+30A>C (n.2707+30A>C) c.2848+30A>C (n.2848+30A>C) c.2704+30A>C (n.2704+30A>C) c.2845+30A>C (n.2845+30A>C) | gnomAD v4 |
X | g.100341874G>A | CA643538069 | PCDH19 | c.2707+29C>T (n.2707+29C>T) c.2848+29C>T (n.2848+29C>T) c.2704+29C>T (n.2704+29C>T) c.2845+29C>T (n.2845+29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341874G= | CA2447955654 | PCDH19 | c.2707+29C= (n.2707+29C=) c.2848+29C= (n.2848+29C=) c.2704+29C= (n.2704+29C=) c.2845+29C= (n.2845+29C=) | |
X | g.100341874G>T | CA2579659189 | PCDH19 | c.2707+29C>A (n.2707+29C>A) c.2848+29C>A (n.2848+29C>A) c.2704+29C>A (n.2704+29C>A) c.2845+29C>A (n.2845+29C>A) | gnomAD v3 gnomAD v4 |
X | g.100341875C>A | CA643538070 | PCDH19 | c.2707+28G>T (n.2707+28G>T) c.2848+28G>T (n.2848+28G>T) c.2704+28G>T (n.2704+28G>T) c.2845+28G>T (n.2845+28G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100341875C= | CA2447955655 | PCDH19 | c.2707+28G= (n.2707+28G=) c.2848+28G= (n.2848+28G=) c.2704+28G= (n.2704+28G=) c.2845+28G= (n.2845+28G=) | |
X | g.100341875C>G | CA2694250703 | PCDH19 | c.2707+28G>C (n.2707+28G>C) c.2848+28G>C (n.2848+28G>C) c.2704+28G>C (n.2704+28G>C) c.2845+28G>C (n.2845+28G>C) | gnomAD v4 |
X | g.100341875C>T | CA2556823728 | PCDH19 | c.2707+28G>A (n.2707+28G>A) c.2848+28G>A (n.2848+28G>A) c.2704+28G>A (n.2704+28G>A) c.2845+28G>A (n.2845+28G>A) | gnomAD v4 |
X | g.100341876T>A | CA2694250704 | PCDH19 | c.2707+27A>T (n.2707+27A>T) c.2848+27A>T (n.2848+27A>T) c.2704+27A>T (n.2704+27A>T) c.2845+27A>T (n.2845+27A>T) | gnomAD v4 |
X | g.100341876T>G | CA2694250705 | PCDH19 | c.2707+27A>C (n.2707+27A>C) c.2848+27A>C (n.2848+27A>C) c.2704+27A>C (n.2704+27A>C) c.2845+27A>C (n.2845+27A>C) | gnomAD v4 |
X | g.100341877G>A | CA2694250706 | PCDH19 | c.2707+26C>T (n.2707+26C>T) c.2848+26C>T (n.2848+26C>T) c.2704+26C>T (n.2704+26C>T) c.2845+26C>T (n.2845+26C>T) | dbSNP gnomAD v4 |
X | g.100341877G>T | CA2579659190 | PCDH19 | c.2707+26C>A (n.2707+26C>A) c.2848+26C>A (n.2848+26C>A) c.2704+26C>A (n.2704+26C>A) c.2845+26C>A (n.2845+26C>A) | gnomAD v4 |
X | g.100341878C>T | CA2694250707 | PCDH19 | c.2707+25G>A (n.2707+25G>A) c.2848+25G>A (n.2848+25G>A) c.2704+25G>A (n.2704+25G>A) c.2845+25G>A (n.2845+25G>A) | gnomAD v4 |
X | g.100341880A>T | CA2694250708 | PCDH19 | c.2707+23T>A (n.2707+23T>A) c.2848+23T>A (n.2848+23T>A) c.2704+23T>A (n.2704+23T>A) c.2845+23T>A (n.2845+23T>A) | gnomAD v4 |
X | g.100341881C>A | CA2694250709 | PCDH19 | c.2707+22G>T (n.2707+22G>T) c.2848+22G>T (n.2848+22G>T) c.2704+22G>T (n.2704+22G>T) c.2845+22G>T (n.2845+22G>T) | gnomAD v4 |
X | g.100341882T>A | CA2579659191 | PCDH19 | c.2707+21A>T (n.2707+21A>T) c.2848+21A>T (n.2848+21A>T) c.2704+21A>T (n.2704+21A>T) c.2845+21A>T (n.2845+21A>T) | gnomAD v4 |
X | g.100341882T>C | CA2694250710 | PCDH19 | c.2707+21A>G (n.2707+21A>G) c.2848+21A>G (n.2848+21A>G) c.2704+21A>G (n.2704+21A>G) c.2845+21A>G (n.2845+21A>G) | gnomAD v4 |
X | g.100341883del | CA2579659192 | PCDH19 | c.2707+21del (n.2707+21del) c.2848+21del (n.2848+21del) c.2704+21del (n.2704+21del) c.2845+21del (n.2845+21del) | |
X | g.100341883T>A | CA2694250711 | PCDH19 | c.2707+20A>T (n.2707+20A>T) c.2848+20A>T (n.2848+20A>T) c.2704+20A>T (n.2704+20A>T) c.2845+20A>T (n.2845+20A>T) | gnomAD v4 |
X | g.100341885C>A | CA2694250712 | PCDH19 | c.2707+18G>T (n.2707+18G>T) c.2848+18G>T (n.2848+18G>T) c.2704+18G>T (n.2704+18G>T) c.2845+18G>T (n.2845+18G>T) | gnomAD v4 |
X | g.100341886A= | CA2447955656 | PCDH19 | c.2707+17T= (n.2707+17T=) c.2848+17T= (n.2848+17T=) c.2704+17T= (n.2704+17T=) c.2845+17T= (n.2845+17T=) | |
X | g.100341886A>G | CA869216687 | PCDH19 | c.2707+17T>C (n.2707+17T>C) c.2848+17T>C (n.2848+17T>C) c.2704+17T>C (n.2704+17T>C) c.2845+17T>C (n.2845+17T>C) | dbSNP gnomAD v4 |
X | g.100341886A>T | CA2543113600 | PCDH19 | c.2707+17T>A (n.2707+17T>A) c.2848+17T>A (n.2848+17T>A) c.2704+17T>A (n.2704+17T>A) c.2845+17T>A (n.2845+17T>A) | gnomAD v4 |
X | g.100341887T>A | CA2694250713 | PCDH19 | c.2707+16A>T (n.2707+16A>T) c.2848+16A>T (n.2848+16A>T) c.2704+16A>T (n.2704+16A>T) c.2845+16A>T (n.2845+16A>T) | gnomAD v4 |
X | g.100341887T>C | CA2694250714 | PCDH19 | c.2707+16A>G (n.2707+16A>G) c.2848+16A>G (n.2848+16A>G) c.2704+16A>G (n.2704+16A>G) c.2845+16A>G (n.2845+16A>G) | gnomAD v4 |
X | g.100341888C>A | CA2694250715 | PCDH19 | c.2707+15G>T (n.2707+15G>T) c.2848+15G>T (n.2848+15G>T) c.2704+15G>T (n.2704+15G>T) c.2845+15G>T (n.2845+15G>T) | gnomAD v4 |
X | g.100341889C>T | CA2526477481 | PCDH19 | c.2707+14G>A (n.2707+14G>A) c.2848+14G>A (n.2848+14G>A) c.2704+14G>A (n.2704+14G>A) c.2845+14G>A (n.2845+14G>A) | |
X | g.100341892C>A | CA2694250716 | PCDH19 | c.2707+11G>T (n.2707+11G>T) c.2848+11G>T (n.2848+11G>T) c.2704+11G>T (n.2704+11G>T) c.2845+11G>T (n.2845+11G>T) | gnomAD v4 |
X | g.100341893C>A | CA2694250717 | PCDH19 | c.2707+10G>T (n.2707+10G>T) c.2848+10G>T (n.2848+10G>T) c.2704+10G>T (n.2704+10G>T) c.2845+10G>T (n.2845+10G>T) | gnomAD v4 |
X | g.100341895G>A | CA2579659193 | PCDH19 | c.2707+8C>T (n.2707+8C>T) c.2848+8C>T (n.2848+8C>T) c.2704+8C>T (n.2704+8C>T) c.2845+8C>T (n.2845+8C>T) | |
X | g.100341896T>C | CA2447955658 | PCDH19 | c.2707+7A>G (n.2707+7A>G) c.2848+7A>G (n.2848+7A>G) c.2704+7A>G (n.2704+7A>G) c.2845+7A>G (n.2845+7A>G) | ClinVar dbSNP gnomAD v4 |
X | g.100341896T= | CA2447955657 | PCDH19 | c.2707+7A= (n.2707+7A=) c.2848+7A= (n.2848+7A=) c.2704+7A= (n.2704+7A=) c.2845+7A= (n.2845+7A=) | |
X | g.100341897C>A | CA2694250718 | PCDH19 | c.2707+6G>T (n.2707+6G>T) c.2848+6G>T (n.2848+6G>T) c.2704+6G>T (n.2704+6G>T) c.2845+6G>T (n.2845+6G>T) | gnomAD v4 |
X | g.100341899T>A | CA2694250719 | PCDH19 | c.2707+4A>T (n.2707+4A>T) c.2848+4A>T (n.2848+4A>T) c.2704+4A>T (n.2704+4A>T) c.2845+4A>T (n.2845+4A>T) | gnomAD v4 |
X | g.100341901A>C | CA413999685 | PCDH19 | c.2707+2T>G (n.2707+2T>G) c.2848+2T>G (n.2848+2T>G) c.2704+2T>G (n.2704+2T>G) c.2845+2T>G (n.2845+2T>G) | |
X | g.100341901A>G | CA413999688 | PCDH19 | c.2707+2T>C (n.2707+2T>C) c.2848+2T>C (n.2848+2T>C) c.2704+2T>C (n.2704+2T>C) c.2845+2T>C (n.2845+2T>C) | |
X | g.100341901A>T | CA413999690 | PCDH19 | c.2707+2T>A (n.2707+2T>A) c.2848+2T>A (n.2848+2T>A) c.2704+2T>A (n.2704+2T>A) c.2845+2T>A (n.2845+2T>A) | |
X | g.100341902C>A | CA413999692 | PCDH19 | c.2707+1G>T (n.2707+1G>T) c.2848+1G>T (n.2848+1G>T) c.2704+1G>T (n.2704+1G>T) c.2845+1G>T (n.2845+1G>T) | gnomAD v4 |
X | g.100341902C>G | CA413999693 | PCDH19 | c.2707+1G>C (n.2707+1G>C) c.2848+1G>C (n.2848+1G>C) c.2704+1G>C (n.2704+1G>C) c.2845+1G>C (n.2845+1G>C) | |
X | g.100341902C>T | CA413999695 | PCDH19 | c.2707+1G>A (n.2707+1G>A) c.2848+1G>A (n.2848+1G>A) c.2704+1G>A (n.2704+1G>A) c.2845+1G>A (n.2845+1G>A) | ClinVar |
X | g.100341903C>A | CA413999698 | PCDH19 | c.2707G>T (p.Asp903Tyr) c.2848G>T (p.Asp950Tyr) c.2704G>T (p.Asp902Tyr) c.2845G>T (p.Asp949Tyr) | |
X | g.100341903C>G | CA413999697 | PCDH19 | c.2707G>C (p.Asp903His) c.2848G>C (p.Asp950His) c.2704G>C (p.Asp902His) c.2845G>C (p.Asp949His) | |
X | g.100341903C>T | CA413999696 | PCDH19 | c.2707G>A (p.Asp903Asn) c.2848G>A (p.Asp950Asn) c.2704G>A (p.Asp902Asn) c.2845G>A (p.Asp949Asn) | |
X | g.100341904A>C | CA413999700 | PCDH19 | c.2706T>G (p.His902Gln) c.2847T>G (p.His949Gln) c.2703T>G (p.His901Gln) c.2844T>G (p.His948Gln) | |
X | g.100341904A>G | CA517696539 | PCDH19 | c.2706T>C (p.His902=) c.2847T>C (p.His949=) c.2703T>C (p.His901=) c.2844T>C (p.His948=) | |
X | g.100341904A>T | CA413999702 | PCDH19 | c.2706T>A (p.His902Gln) c.2847T>A (p.His949Gln) c.2703T>A (p.His901Gln) c.2844T>A (p.His948Gln) | |
X | g.100341905T>A | CA413999703 | PCDH19 | c.2705A>T (p.His902Leu) c.2846A>T (p.His949Leu) c.2702A>T (p.His901Leu) c.2843A>T (p.His948Leu) | gnomAD v4 COSMIC COSMIC |
X | g.100341905T>C | CA413999705 | PCDH19 | c.2705A>G (p.His902Arg) c.2846A>G (p.His949Arg) c.2702A>G (p.His901Arg) c.2843A>G (p.His948Arg) | dbSNP |
X | g.100341905T>G | CA413999707 | PCDH19 | c.2705A>C (p.His902Pro) c.2846A>C (p.His949Pro) c.2702A>C (p.His901Pro) c.2843A>C (p.His948Pro) | ClinVar dbSNP |
X | g.100341905T= | CA2447955659 | PCDH19 | c.2705A= (p.His902=) c.2846A= (p.His949=) c.2702A= (p.His901=) c.2843A= (p.His948=) | |
X | g.100341906G>A | CA413999708 | PCDH19 | c.2704C>T (p.His902Tyr) c.2845C>T (p.His949Tyr) c.2701C>T (p.His901Tyr) c.2842C>T (p.His948Tyr) | |
X | g.100341906G>C | CA413999709 | PCDH19 | c.2704C>G (p.His902Asp) c.2845C>G (p.His949Asp) c.2701C>G (p.His901Asp) c.2842C>G (p.His948Asp) | |
X | g.100341906G>T | CA413999711 | PCDH19 | c.2704C>A (p.His902Asn) c.2845C>A (p.His949Asn) c.2701C>A (p.His901Asn) c.2842C>A (p.His948Asn) | gnomAD v4 |
X | g.100341907A>C | CA413999713 | PCDH19 | c.2703T>G (p.Asp901Glu) c.2844T>G (p.Asp948Glu) c.2700T>G (p.Asp900Glu) c.2841T>G (p.Asp947Glu) | |
X | g.100341907A>G | CA517696552 | PCDH19 | c.2703T>C (p.Asp901=) c.2844T>C (p.Asp948=) c.2700T>C (p.Asp900=) c.2841T>C (p.Asp947=) | |
X | g.100341907A>T | CA413999715 | PCDH19 | c.2703T>A (p.Asp901Glu) c.2844T>A (p.Asp948Glu) c.2700T>A (p.Asp900Glu) c.2841T>A (p.Asp947Glu) | |
X | g.100341908T>A | CA413999716 | PCDH19 | c.2702A>T (p.Asp901Val) c.2843A>T (p.Asp948Val) c.2699A>T (p.Asp900Val) c.2840A>T (p.Asp947Val) | |
X | g.100341908T>C | CA413999717 | PCDH19 | c.2702A>G (p.Asp901Gly) c.2843A>G (p.Asp948Gly) c.2699A>G (p.Asp900Gly) c.2840A>G (p.Asp947Gly) | |
X | g.100341908T>G | CA413999719 | PCDH19 | c.2702A>C (p.Asp901Ala) c.2843A>C (p.Asp948Ala) c.2699A>C (p.Asp900Ala) c.2840A>C (p.Asp947Ala) | |
X | g.100341909C>A | CA413999722 | PCDH19 | c.2701G>T (p.Asp901Tyr) c.2842G>T (p.Asp948Tyr) c.2698G>T (p.Asp900Tyr) c.2839G>T (p.Asp947Tyr) | |
X | g.100341909C>G | CA413999724 | PCDH19 | c.2701G>C (p.Asp901His) c.2842G>C (p.Asp948His) c.2698G>C (p.Asp900His) c.2839G>C (p.Asp947His) | |
X | g.100341909C>T | CA413999721 | PCDH19 | c.2701G>A (p.Asp901Asn) c.2842G>A (p.Asp948Asn) c.2698G>A (p.Asp900Asn) c.2839G>A (p.Asp947Asn) | |
X | g.100341910A>C | CA517696564 | PCDH19 | c.2700T>G (p.Pro900=) c.2841T>G (p.Pro947=) c.2697T>G (p.Pro899=) c.2838T>G (p.Pro946=) | |
X | g.100341910A>G | CA517696565 | PCDH19 | c.2700T>C (p.Pro900=) c.2841T>C (p.Pro947=) c.2697T>C (p.Pro899=) c.2838T>C (p.Pro946=) | |
X | g.100341910A>T | CA517696567 | PCDH19 | c.2700T>A (p.Pro900=) c.2841T>A (p.Pro947=) c.2697T>A (p.Pro899=) c.2838T>A (p.Pro946=) | |
X | g.100341911G>A | CA413999729 | PCDH19 | c.2699C>T (p.Pro900Leu) c.2840C>T (p.Pro947Leu) c.2696C>T (p.Pro899Leu) c.2837C>T (p.Pro946Leu) | gnomAD v4 |
X | g.100341911G>C | CA413999726 | PCDH19 | c.2699C>G (p.Pro900Arg) c.2840C>G (p.Pro947Arg) c.2696C>G (p.Pro899Arg) c.2837C>G (p.Pro946Arg) | |
X | g.100341911G>T | CA413999727 | PCDH19 | c.2699C>A (p.Pro900His) c.2840C>A (p.Pro947His) c.2696C>A (p.Pro899His) c.2837C>A (p.Pro946His) | |
X | g.100341912G>A | CA413999731 | PCDH19 | c.2698C>T (p.Pro900Ser) c.2839C>T (p.Pro947Ser) c.2695C>T (p.Pro899Ser) c.2836C>T (p.Pro946Ser) | gnomAD v4 |
X | g.100341912G>C | CA413999733 | PCDH19 | c.2698C>G (p.Pro900Ala) c.2839C>G (p.Pro947Ala) c.2695C>G (p.Pro899Ala) c.2836C>G (p.Pro946Ala) | |
X | g.100341912G>T | CA413999735 | PCDH19 | c.2698C>A (p.Pro900Thr) c.2839C>A (p.Pro947Thr) c.2695C>A (p.Pro899Thr) c.2836C>A (p.Pro946Thr) | gnomAD v4 |
X | g.100341913C>A | CA413999736 | PCDH19 | c.2697G>T (p.Met899Ile) c.2838G>T (p.Met946Ile) c.2694G>T (p.Met898Ile) c.2835G>T (p.Met945Ile) | |
X | g.100341913C>G | CA413999738 | PCDH19 | c.2697G>C (p.Met899Ile) c.2838G>C (p.Met946Ile) c.2694G>C (p.Met898Ile) c.2835G>C (p.Met945Ile) | |
X | g.100341913C>T | CA413999739 | PCDH19 | c.2697G>A (p.Met899Ile) c.2838G>A (p.Met946Ile) c.2694G>A (p.Met898Ile) c.2835G>A (p.Met945Ile) | gnomAD v4 |
X | g.100341914A= | CA2447955660 | PCDH19 | c.2696T= (p.Met899=) c.2837T= (p.Met946=) c.2693T= (p.Met898=) c.2834T= (p.Met945=) | |
X | g.100341914A>C | CA413999742 | PCDH19 | c.2696T>G (p.Met899Arg) c.2837T>G (p.Met946Arg) c.2693T>G (p.Met898Arg) c.2834T>G (p.Met945Arg) | |
X | g.100341914A>G | CA413999743 | PCDH19 | c.2696T>C (p.Met899Thr) c.2837T>C (p.Met946Thr) c.2693T>C (p.Met898Thr) c.2834T>C (p.Met945Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341914A>T | CA413999745 | PCDH19 | c.2696T>A (p.Met899Lys) c.2837T>A (p.Met946Lys) c.2693T>A (p.Met898Lys) c.2834T>A (p.Met945Lys) | |
X | g.100341915T>A | CA413999746 | PCDH19 | c.2695A>T (p.Met899Leu) c.2836A>T (p.Met946Leu) c.2692A>T (p.Met898Leu) c.2833A>T (p.Met945Leu) | gnomAD v4 |
X | g.100341915T>C | CA16621144 | PCDH19 | c.2695A>G (p.Met899Val) c.2836A>G (p.Met946Val) c.2692A>G (p.Met898Val) c.2833A>G (p.Met945Val) | ClinVar dbSNP gnomAD v4 |
X | g.100341915T>G | CA413999748 | PCDH19 | c.2695A>C (p.Met899Leu) c.2836A>C (p.Met946Leu) c.2692A>C (p.Met898Leu) c.2833A>C (p.Met945Leu) | |
X | g.100341915T= | CA2447955661 | PCDH19 | c.2695A= (p.Met899=) c.2836A= (p.Met946=) c.2692A= (p.Met898=) c.2833A= (p.Met945=) | |
X | g.100341916C>A | CA413999750 | PCDH19 | c.2694G>T (p.Gln898His) c.2835G>T (p.Gln945His) c.2691G>T (p.Gln897His) c.2832G>T (p.Gln944His) | |
X | g.100341916C>G | CA413999752 | PCDH19 | c.2694G>C (p.Gln898His) c.2835G>C (p.Gln945His) c.2691G>C (p.Gln897His) c.2832G>C (p.Gln944His) | |
X | g.100341916C>T | CA517696588 | PCDH19 | c.2694G>A (p.Gln898=) c.2835G>A (p.Gln945=) c.2691G>A (p.Gln897=) c.2832G>A (p.Gln944=) | |
X | g.100341917T>A | CA413999753 | PCDH19 | c.2693A>T (p.Gln898Leu) c.2834A>T (p.Gln945Leu) c.2690A>T (p.Gln897Leu) c.2831A>T (p.Gln944Leu) | |
X | g.100341917T>C | CA413999755 | PCDH19 | c.2693A>G (p.Gln898Arg) c.2834A>G (p.Gln945Arg) c.2690A>G (p.Gln897Arg) c.2831A>G (p.Gln944Arg) | gnomAD v4 |
X | g.100341917T>G | CA413999757 | PCDH19 | c.2693A>C (p.Gln898Pro) c.2834A>C (p.Gln945Pro) c.2690A>C (p.Gln897Pro) c.2831A>C (p.Gln944Pro) | gnomAD v4 |
X | g.100341918G>A | CA413999758 | PCDH19 | c.2692C>T (p.Gln898Ter) c.2833C>T (p.Gln945Ter) c.2689C>T (p.Gln897Ter) c.2830C>T (p.Gln944Ter) | ClinVar dbSNP COSMIC COSMIC |
X | g.100341918G>C | CA413999760 | PCDH19 | c.2692C>G (p.Gln898Glu) c.2833C>G (p.Gln945Glu) c.2689C>G (p.Gln897Glu) c.2830C>G (p.Gln944Glu) | COSMIC COSMIC |
X | g.100341918G>T | CA413999761 | PCDH19 | c.2692C>A (p.Gln898Lys) c.2833C>A (p.Gln945Lys) c.2689C>A (p.Gln897Lys) c.2830C>A (p.Gln944Lys) | gnomAD v4 |
X | g.100341919A>C | CA517696596 | PCDH19 | c.2691T>G (p.Ser897=) c.2832T>G (p.Ser944=) c.2688T>G (p.Ser896=) c.2829T>G (p.Ser943=) | |
X | g.100341919A>G | CA517696598 | PCDH19 | c.2691T>C (p.Ser897=) c.2832T>C (p.Ser944=) c.2688T>C (p.Ser896=) c.2829T>C (p.Ser943=) | |
X | g.100341919A>T | CA517696600 | PCDH19 | c.2691T>A (p.Ser897=) c.2832T>A (p.Ser944=) c.2688T>A (p.Ser896=) c.2829T>A (p.Ser943=) | |
X | g.100341920G>A | CA413999763 | PCDH19 | c.2690C>T (p.Ser897Phe) c.2831C>T (p.Ser944Phe) c.2687C>T (p.Ser896Phe) c.2828C>T (p.Ser943Phe) | |
X | g.100341920G>C | CA413999765 | PCDH19 | c.2690C>G (p.Ser897Cys) c.2831C>G (p.Ser944Cys) c.2687C>G (p.Ser896Cys) c.2828C>G (p.Ser943Cys) | |
X | g.100341920G>T | CA413999766 | PCDH19 | c.2690C>A (p.Ser897Tyr) c.2831C>A (p.Ser944Tyr) c.2687C>A (p.Ser896Tyr) c.2828C>A (p.Ser943Tyr) | |
X | g.100341921A>C | CA413999768 | PCDH19 | c.2689T>G (p.Ser897Ala) c.2830T>G (p.Ser944Ala) c.2686T>G (p.Ser896Ala) c.2827T>G (p.Ser943Ala) | gnomAD v4 |
X | g.100341921A>G | CA413999770 | PCDH19 | c.2689T>C (p.Ser897Pro) c.2830T>C (p.Ser944Pro) c.2686T>C (p.Ser896Pro) c.2827T>C (p.Ser943Pro) | |
X | g.100341921A>T | CA413999772 | PCDH19 | c.2689T>A (p.Ser897Thr) c.2830T>A (p.Ser944Thr) c.2686T>A (p.Ser896Thr) c.2827T>A (p.Ser943Thr) | |
X | g.100341922T>A | CA517696608 | PCDH19 | c.2688A>T (p.Gly896=) c.2829A>T (p.Gly943=) c.2685A>T (p.Gly895=) c.2826A>T (p.Gly942=) | |
X | g.100341922T>C | CA517696610 | PCDH19 | c.2688A>G (p.Gly896=) c.2829A>G (p.Gly943=) c.2685A>G (p.Gly895=) c.2826A>G (p.Gly942=) | |
X | g.100341922T>G | CA517696612 | PCDH19 | c.2688A>C (p.Gly896=) c.2829A>C (p.Gly943=) c.2685A>C (p.Gly895=) c.2826A>C (p.Gly942=) | |
X | g.100341923C>A | CA413999776 | PCDH19 | c.2687G>T (p.Gly896Val) c.2828G>T (p.Gly943Val) c.2684G>T (p.Gly895Val) c.2825G>T (p.Gly942Val) | |
X | g.100341923C= | CA2447955662 | PCDH19 | c.2687G= (p.Gly896=) c.2828G= (p.Gly943=) c.2684G= (p.Gly895=) c.2825G= (p.Gly942=) | |
X | g.100341923C>G | CA413999774 | PCDH19 | c.2687G>C (p.Gly896Ala) c.2828G>C (p.Gly943Ala) c.2684G>C (p.Gly895Ala) c.2825G>C (p.Gly942Ala) | |
X | g.100341923C>T | CA10468703 | PCDH19 | c.2687G>A (p.Gly896Glu) c.2828G>A (p.Gly943Glu) c.2684G>A (p.Gly895Glu) c.2825G>A (p.Gly942Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341925del | CA2694250720 | PCDH19 | c.2687del (p.Gly896AspfsTer?) c.2828del (p.Gly943AspfsTer?) c.2684del (p.Gly895AspfsTer?) c.2825del (p.Gly942AspfsTer?) | gnomAD v4 |
X | g.100341924C>A | CA413999778 | PCDH19 | c.2686G>T (p.Gly896Ter) c.2827G>T (p.Gly943Ter) c.2683G>T (p.Gly895Ter) c.2824G>T (p.Gly942Ter) | |
X | g.100341924C= | CA2447955663 | PCDH19 | c.2686G= (p.Gly896=) c.2827G= (p.Gly943=) c.2683G= (p.Gly895=) c.2824G= (p.Gly942=) | |
X | g.100341924C>G | CA413999779 | PCDH19 | c.2686G>C (p.Gly896Arg) c.2827G>C (p.Gly943Arg) c.2683G>C (p.Gly895Arg) c.2824G>C (p.Gly942Arg) | |
X | g.100341924C>T | CA413999781 | PCDH19 | c.2686G>A (p.Gly896Arg) c.2827G>A (p.Gly943Arg) c.2683G>A (p.Gly895Arg) c.2824G>A (p.Gly942Arg) | dbSNP |
X | g.100341925C>A | CA413999783 | PCDH19 | c.2685G>T (p.Met895Ile) c.2826G>T (p.Met942Ile) c.2682G>T (p.Met894Ile) c.2823G>T (p.Met941Ile) | |
X | g.100341925C>G | CA413999785 | PCDH19 | c.2685G>C (p.Met895Ile) c.2826G>C (p.Met942Ile) c.2682G>C (p.Met894Ile) c.2823G>C (p.Met941Ile) | |
X | g.100341925C>T | CA413999786 | PCDH19 | c.2685G>A (p.Met895Ile) c.2826G>A (p.Met942Ile) c.2682G>A (p.Met894Ile) c.2823G>A (p.Met941Ile) | |
X | g.100341926A>C | CA413999788 | PCDH19 | c.2684T>G (p.Met895Arg) c.2825T>G (p.Met942Arg) c.2681T>G (p.Met894Arg) c.2822T>G (p.Met941Arg) | |
X | g.100341926A>G | CA413999790 | PCDH19 | c.2684T>C (p.Met895Thr) c.2825T>C (p.Met942Thr) c.2681T>C (p.Met894Thr) c.2822T>C (p.Met941Thr) | ClinVar |
X | g.100341926A>T | CA413999792 | PCDH19 | c.2684T>A (p.Met895Lys) c.2825T>A (p.Met942Lys) c.2681T>A (p.Met894Lys) c.2822T>A (p.Met941Lys) | |
X | g.100341927T>A | CA413999793 | PCDH19 | c.2683A>T (p.Met895Leu) c.2824A>T (p.Met942Leu) c.2680A>T (p.Met894Leu) c.2821A>T (p.Met941Leu) | |
X | g.100341927T>C | CA413999794 | PCDH19 | c.2683A>G (p.Met895Val) c.2824A>G (p.Met942Val) c.2680A>G (p.Met894Val) c.2821A>G (p.Met941Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100341927T>G | CA413999796 | PCDH19 | c.2683A>C (p.Met895Leu) c.2824A>C (p.Met942Leu) c.2680A>C (p.Met894Leu) c.2821A>C (p.Met941Leu) | |
X | g.100341927T= | CA2447955664 | PCDH19 | c.2683A= (p.Met895=) c.2824A= (p.Met942=) c.2680A= (p.Met894=) c.2821A= (p.Met941=) | |
X | g.100341928G>A | CA10468704 | PCDH19 | c.2682C>T (p.Ser894=) c.2823C>T (p.Ser941=) c.2679C>T (p.Ser893=) c.2820C>T (p.Ser940=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100341928G>C | CA517696628 | PCDH19 | c.2682C>G (p.Ser894=) c.2823C>G (p.Ser941=) c.2679C>G (p.Ser893=) c.2820C>G (p.Ser940=) | |
X | g.100341928G= | CA2447955665 | PCDH19 | c.2682C= (p.Ser894=) c.2823C= (p.Ser941=) c.2679C= (p.Ser893=) c.2820C= (p.Ser940=) | |
X | g.100341928G>T | CA517696630 | PCDH19 | c.2682C>A (p.Ser894=) c.2823C>A (p.Ser941=) c.2679C>A (p.Ser893=) c.2820C>A (p.Ser940=) |