Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.62012964A= | CA2181971795 | VPS13C | c.825+75T= (n.825+75T=) c.696+75T= (n.696+75T=) n.877+75T= | |
15 | g.62012964A>C | CA970584294 | VPS13C | c.825+75T>G (n.825+75T>G) c.696+75T>G (n.696+75T>G) n.877+75T>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62012964A>G | CA2628797779 | VPS13C | c.825+75T>C (n.825+75T>C) c.696+75T>C (n.696+75T>C) n.877+75T>C | gnomAD v4 |
15 | g.62012965T>A | CA2575748304 | VPS13C | c.825+74A>T (n.825+74A>T) c.696+74A>T (n.696+74A>T) n.877+74A>T | gnomAD v4 |
15 | g.62012965T>C | CA2628797780 | VPS13C | c.825+74A>G (n.825+74A>G) c.696+74A>G (n.696+74A>G) n.877+74A>G | gnomAD v4 |
15 | g.62012965dup | CA714654786 | VPS13C | c.825+74dup (n.825+74dup) c.696+74dup (n.696+74dup) n.877+74dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62012966G>T | CA2628797781 | VPS13C | c.825+73C>A (n.825+73C>A) c.696+73C>A (n.696+73C>A) n.877+73C>A | gnomAD v4 |
15 | g.62012967A>G | CA2628797782 | VPS13C | c.825+72T>C (n.825+72T>C) c.696+72T>C (n.696+72T>C) n.877+72T>C | gnomAD v4 |
15 | g.62012968A= | CA2181971796 | VPS13C | c.825+71T= (n.825+71T=) c.696+71T= (n.696+71T=) n.877+71T= | |
15 | g.62012968A>G | CA2575748305 | VPS13C | c.825+71T>C (n.825+71T>C) c.696+71T>C (n.696+71T>C) n.877+71T>C | gnomAD v4 |
15 | g.62012968A>T | CA2181971797 | VPS13C | c.825+71T>A (n.825+71T>A) c.696+71T>A (n.696+71T>A) n.877+71T>A | dbSNP gnomAD v4 |
15 | g.62012969G>A | CA714654787 | VPS13C | c.825+70C>T (n.825+70C>T) c.696+70C>T (n.696+70C>T) n.877+70C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62012969G= | CA2181971798 | VPS13C | c.825+70C= (n.825+70C=) c.696+70C= (n.696+70C=) n.877+70C= | |
15 | g.62012969G>T | CA2628797783 | VPS13C | c.825+70C>A (n.825+70C>A) c.696+70C>A (n.696+70C>A) n.877+70C>A | gnomAD v4 |
15 | g.62012970G>A | CA2628797784 | VPS13C | c.825+69C>T (n.825+69C>T) c.696+69C>T (n.696+69C>T) n.877+69C>T | gnomAD v4 |
15 | g.62012970G>T | CA2575748306 | VPS13C | c.825+69C>A (n.825+69C>A) c.696+69C>A (n.696+69C>A) n.877+69C>A | gnomAD v4 |
15 | g.62012971C>A | CA2628797786 | VPS13C | c.825+68G>T (n.825+68G>T) c.696+68G>T (n.696+68G>T) n.877+68G>T | gnomAD v4 |
15 | g.62012971C= | CA2181971799 | VPS13C | c.825+68G= (n.825+68G=) c.696+68G= (n.696+68G=) n.877+68G= | |
15 | g.62012971C>G | CA714654793 | VPS13C | c.825+68G>C (n.825+68G>C) c.696+68G>C (n.696+68G>C) n.877+68G>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62012971C>T | CA2628797787 | VPS13C | c.825+68G>A (n.825+68G>A) c.696+68G>A (n.696+68G>A) n.877+68G>A | gnomAD v4 |
15 | g.62012973del | CA2628797785 | VPS13C | c.825+68del (n.825+68del) c.696+68del (n.696+68del) n.877+68del | gnomAD v4 |
15 | g.62012972C>A | CA2628797788 | VPS13C | c.825+67G>T (n.825+67G>T) c.696+67G>T (n.696+67G>T) n.877+67G>T | gnomAD v4 |
15 | g.62012972C>T | CA2628797789 | VPS13C | c.825+67G>A (n.825+67G>A) c.696+67G>A (n.696+67G>A) n.877+67G>A | gnomAD v4 |
15 | g.62012973C>G | CA2628797790 | VPS13C | c.825+66G>C (n.825+66G>C) c.696+66G>C (n.696+66G>C) n.877+66G>C | gnomAD v4 |
15 | g.62012974T>C | CA2575748307 | VPS13C | c.825+65A>G (n.825+65A>G) c.696+65A>G (n.696+65A>G) n.877+65A>G | |
15 | g.62012976T>C | CA2181971801 | VPS13C | c.825+63A>G (n.825+63A>G) c.696+63A>G (n.696+63A>G) n.877+63A>G | dbSNP gnomAD v4 |
15 | g.62012976T= | CA2181971800 | VPS13C | c.825+63A= (n.825+63A=) c.696+63A= (n.696+63A=) n.877+63A= | |
15 | g.62012977T>C | CA2628797791 | VPS13C | c.825+62A>G (n.825+62A>G) c.696+62A>G (n.696+62A>G) n.877+62A>G | gnomAD v4 |
15 | g.62012978A>T | CA2575748308 | VPS13C | c.825+61T>A (n.825+61T>A) c.696+61T>A (n.696+61T>A) n.877+61T>A | |
15 | g.62012979T>A | CA2575748309 | VPS13C | c.825+60A>T (n.825+60A>T) c.696+60A>T (n.696+60A>T) n.877+60A>T | |
15 | g.62012979T>C | CA271923926 | VPS13C | c.825+60A>G (n.825+60A>G) c.696+60A>G (n.696+60A>G) n.877+60A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62012979T= | CA2181971802 | VPS13C | c.825+60A= (n.825+60A=) c.696+60A= (n.696+60A=) n.877+60A= | |
15 | g.62012980A>G | CA2628797792 | VPS13C | c.825+59T>C (n.825+59T>C) c.696+59T>C (n.696+59T>C) n.877+59T>C | gnomAD v4 |
15 | g.62012981T>C | CA2628797793 | VPS13C | c.825+58A>G (n.825+58A>G) c.696+58A>G (n.696+58A>G) n.877+58A>G | gnomAD v4 |
15 | g.62012982T>C | CA271923936 | VPS13C | c.825+57A>G (n.825+57A>G) c.696+57A>G (n.696+57A>G) n.877+57A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62012982T>G | CA2628797794 | VPS13C | c.825+57A>C (n.825+57A>C) c.696+57A>C (n.696+57A>C) n.877+57A>C | gnomAD v4 |
15 | g.62012982T= | CA2181971803 | VPS13C | c.825+57A= (n.825+57A=) c.696+57A= (n.696+57A=) n.877+57A= | |
15 | g.62012983A>G | CA2628797796 | VPS13C | c.825+56T>C (n.825+56T>C) c.696+56T>C (n.696+56T>C) n.877+56T>C | gnomAD v4 |
15 | g.62012983A>T | CA2575748310 | VPS13C | c.825+56T>A (n.825+56T>A) c.696+56T>A (n.696+56T>A) n.877+56T>A | gnomAD v4 |
15 | g.62012985del | CA2628797795 | VPS13C | c.825+56del (n.825+56del) c.696+56del (n.696+56del) n.877+56del | gnomAD v4 |
15 | g.62012985A= | CA2181971804 | VPS13C | c.825+54T= (n.825+54T=) c.696+54T= (n.696+54T=) n.877+54T= | |
15 | g.62012985A>G | CA271923948 | VPS13C | c.825+54T>C (n.825+54T>C) c.696+54T>C (n.696+54T>C) n.877+54T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62012986C>A | CA271923961 | VPS13C | c.825+53G>T (n.825+53G>T) c.696+53G>T (n.696+53G>T) n.877+53G>T | dbSNP gnomAD v4 |
15 | g.62012986C= | CA2181971805 | VPS13C | c.825+53G= (n.825+53G=) c.696+53G= (n.696+53G=) n.877+53G= | |
15 | g.62012986C>T | CA618227278 | VPS13C | c.825+53G>A (n.825+53G>A) c.696+53G>A (n.696+53G>A) n.877+53G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.62012987A>G | CA2628797797 | VPS13C | c.825+52T>C (n.825+52T>C) c.696+52T>C (n.696+52T>C) n.877+52T>C | gnomAD v4 |
15 | g.62012988A= | CA2181971806 | VPS13C | c.825+51T= (n.825+51T=) c.696+51T= (n.696+51T=) n.877+51T= | |
15 | g.62012988A>C | CA2628797798 | VPS13C | c.825+51T>G (n.825+51T>G) c.696+51T>G (n.696+51T>G) n.877+51T>G | gnomAD v4 |
15 | g.62012988A>G | CA7597343 | VPS13C | c.825+51T>C (n.825+51T>C) c.696+51T>C (n.696+51T>C) n.877+51T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62012990T>C | CA2628797799 | VPS13C | c.825+49A>G (n.825+49A>G) c.696+49A>G (n.696+49A>G) n.877+49A>G | gnomAD v4 |
15 | g.62012993A>G | CA2628797800 | VPS13C | c.825+46T>C (n.825+46T>C) c.696+46T>C (n.696+46T>C) n.877+46T>C | gnomAD v4 |
15 | g.62012993A>T | CA2575748311 | VPS13C | c.825+46T>A (n.825+46T>A) c.696+46T>A (n.696+46T>A) n.877+46T>A | gnomAD v4 |
15 | g.62012994G>A | CA2628797801 | VPS13C | c.825+45C>T (n.825+45C>T) c.696+45C>T (n.696+45C>T) n.877+45C>T | gnomAD v4 |
15 | g.62012994G>C | CA618227279 | VPS13C | c.825+45C>G (n.825+45C>G) c.696+45C>G (n.696+45C>G) n.877+45C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.62012994G= | CA2181971807 | VPS13C | c.825+45C= (n.825+45C=) c.696+45C= (n.696+45C=) n.877+45C= | |
15 | g.62012994G>T | CA2575748312 | VPS13C | c.825+45C>A (n.825+45C>A) c.696+45C>A (n.696+45C>A) n.877+45C>A | gnomAD v4 |
15 | g.62012995G>A | CA2628797803 | VPS13C | c.825+44C>T (n.825+44C>T) c.696+44C>T (n.696+44C>T) n.877+44C>T | gnomAD v4 |
15 | g.62012995G>C | CA2575748313 | VPS13C | c.825+44C>G (n.825+44C>G) c.696+44C>G (n.696+44C>G) n.877+44C>G | |
15 | g.62012995G>T | CA2628797802 | VPS13C | c.825+44C>A (n.825+44C>A) c.696+44C>A (n.696+44C>A) n.877+44C>A | gnomAD v4 |
15 | g.62012996G>A | CA7597344 | VPS13C | c.825+43C>T (n.825+43C>T) c.696+43C>T (n.696+43C>T) n.877+43C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62012996G= | CA2181971809 | VPS13C | c.825+43C= (n.825+43C=) c.696+43C= (n.696+43C=) n.877+43C= | |
15 | g.62012996G>T | CA2181971808 | VPS13C | c.825+43C>A (n.825+43C>A) c.696+43C>A (n.696+43C>A) n.877+43C>A | dbSNP gnomAD v4 |
15 | g.62012997A>G | CA2628797804 | VPS13C | c.825+42T>C (n.825+42T>C) c.696+42T>C (n.696+42T>C) n.877+42T>C | gnomAD v4 |
15 | g.62012998T>A | CA2628797805 | VPS13C | c.825+41A>T (n.825+41A>T) c.696+41A>T (n.696+41A>T) n.877+41A>T | gnomAD v4 |
15 | g.62012998T>C | CA7597345 | VPS13C | c.825+41A>G (n.825+41A>G) c.696+41A>G (n.696+41A>G) n.877+41A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62012998T= | CA2181971810 | VPS13C | c.825+41A= (n.825+41A=) c.696+41A= (n.696+41A=) n.877+41A= | |
15 | g.62012999G>A | CA2628797806 | VPS13C | c.825+40C>T (n.825+40C>T) c.696+40C>T (n.696+40C>T) n.877+40C>T | gnomAD v4 |
15 | g.62012999G>T | CA2575748314 | VPS13C | c.825+40C>A (n.825+40C>A) c.696+40C>A (n.696+40C>A) n.877+40C>A | gnomAD v4 |
15 | g.62013000G>A | CA618227280 | VPS13C | c.825+39C>T (n.825+39C>T) c.696+39C>T (n.696+39C>T) n.877+39C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.62013000G= | CA2181971811 | VPS13C | c.825+39C= (n.825+39C=) c.696+39C= (n.696+39C=) n.877+39C= | |
15 | g.62013000G>T | CA2628797807 | VPS13C | c.825+39C>A (n.825+39C>A) c.696+39C>A (n.696+39C>A) n.877+39C>A | gnomAD v4 |
15 | g.62013001G>A | CA7597346 | VPS13C | c.825+38C>T (n.825+38C>T) c.696+38C>T (n.696+38C>T) n.877+38C>T | dbSNP ExAC gnomAD v2 |
15 | g.62013001G= | CA2181971812 | VPS13C | c.825+38C= (n.825+38C=) c.696+38C= (n.696+38C=) n.877+38C= | |
15 | g.62013001G>T | CA2628797808 | VPS13C | c.825+38C>A (n.825+38C>A) c.696+38C>A (n.696+38C>A) n.877+38C>A | gnomAD v4 |
15 | g.62013002A= | CA2181971813 | VPS13C | c.825+37T= (n.825+37T=) c.696+37T= (n.696+37T=) n.877+37T= | |
15 | g.62013002A>C | CA714654816 | VPS13C | c.825+37T>G (n.825+37T>G) c.696+37T>G (n.696+37T>G) n.877+37T>G | dbSNP |
15 | g.62013002A>T | CA2628797809 | VPS13C | c.825+37T>A (n.825+37T>A) c.696+37T>A (n.696+37T>A) n.877+37T>A | gnomAD v4 |
15 | g.62013003del | CA2628797810 | VPS13C | c.825+36del (n.825+36del) c.696+36del (n.696+36del) n.877+36del | gnomAD v4 |
15 | g.62013003G>A | CA2628797811 | VPS13C | c.825+36C>T (n.825+36C>T) c.696+36C>T (n.696+36C>T) n.877+36C>T | gnomAD v4 |
15 | g.62013004T>A | CA2628797812 | VPS13C | c.825+35A>T (n.825+35A>T) c.696+35A>T (n.696+35A>T) n.877+35A>T | gnomAD v4 |
15 | g.62013004T>C | CA7597347 | VPS13C | c.825+35A>G (n.825+35A>G) c.696+35A>G (n.696+35A>G) n.877+35A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013004T= | CA2181971814 | VPS13C | c.825+35A= (n.825+35A=) c.696+35A= (n.696+35A=) n.877+35A= | |
15 | g.62013005G>A | CA7597348 | VPS13C | c.825+34C>T (n.825+34C>T) c.696+34C>T (n.696+34C>T) n.877+34C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013005G= | CA2181971815 | VPS13C | c.825+34C= (n.825+34C=) c.696+34C= (n.696+34C=) n.877+34C= | |
15 | g.62013005G>T | CA2575748315 | VPS13C | c.825+34C>A (n.825+34C>A) c.696+34C>A (n.696+34C>A) n.877+34C>A | gnomAD v4 |
15 | g.62013008G>A | CA714654819 | VPS13C | c.825+31C>T (n.825+31C>T) c.696+31C>T (n.696+31C>T) n.877+31C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62013008G= | CA2181971816 | VPS13C | c.825+31C= (n.825+31C=) c.696+31C= (n.696+31C=) n.877+31C= | |
15 | g.62013010T>C | CA714654822 | VPS13C | c.825+29A>G (n.825+29A>G) c.696+29A>G (n.696+29A>G) n.877+29A>G | dbSNP |
15 | g.62013010T= | CA2181971817 | VPS13C | c.825+29A= (n.825+29A=) c.696+29A= (n.696+29A=) n.877+29A= | |
15 | g.62013011A>G | CA2628797813 | VPS13C | c.825+28T>C (n.825+28T>C) c.696+28T>C (n.696+28T>C) n.877+28T>C | dbSNP gnomAD v4 |
15 | g.62013012G>C | CA7597349 | VPS13C | c.825+27C>G (n.825+27C>G) c.696+27C>G (n.696+27C>G) n.877+27C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013012G= | CA2181971818 | VPS13C | c.825+27C= (n.825+27C=) c.696+27C= (n.696+27C=) n.877+27C= | |
15 | g.62013012G>T | CA2628797814 | VPS13C | c.825+27C>A (n.825+27C>A) c.696+27C>A (n.696+27C>A) n.877+27C>A | gnomAD v4 |
15 | g.62013013C>A | CA2628797815 | VPS13C | c.825+26G>T (n.825+26G>T) c.696+26G>T (n.696+26G>T) n.877+26G>T | gnomAD v4 |
15 | g.62013013C= | CA2181971819 | VPS13C | c.825+26G= (n.825+26G=) c.696+26G= (n.696+26G=) n.877+26G= | |
15 | g.62013013C>G | CA618227281 | VPS13C | c.825+26G>C (n.825+26G>C) c.696+26G>C (n.696+26G>C) n.877+26G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013013C>T | CA618227282 | VPS13C | c.825+26G>A (n.825+26G>A) c.696+26G>A (n.696+26G>A) n.877+26G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.62013014T>C | CA2628797816 | VPS13C | c.825+25A>G (n.825+25A>G) c.696+25A>G (n.696+25A>G) n.877+25A>G | gnomAD v4 |
15 | g.62013015C= | CA2181971820 | VPS13C | c.825+24G= (n.825+24G=) c.696+24G= (n.696+24G=) n.877+24G= | |
15 | g.62013015C>G | CA7597350 | VPS13C | c.825+24G>C (n.825+24G>C) c.696+24G>C (n.696+24G>C) n.877+24G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013016T>C | CA7597351 | VPS13C | c.825+23A>G (n.825+23A>G) c.696+23A>G (n.696+23A>G) n.877+23A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013016T= | CA2181971821 | VPS13C | c.825+23A= (n.825+23A=) c.696+23A= (n.696+23A=) n.877+23A= | |
15 | g.62013018C>A | CA2628797818 | VPS13C | c.825+21G>T (n.825+21G>T) c.696+21G>T (n.696+21G>T) n.877+21G>T | gnomAD v4 |
15 | g.62013019dup | CA2628797817 | VPS13C | c.825+21dup (n.825+21dup) c.696+21dup (n.696+21dup) n.877+21dup | gnomAD v4 |
15 | g.62013019C= | CA2181971822 | VPS13C | c.825+20G= (n.825+20G=) c.696+20G= (n.696+20G=) n.877+20G= | |
15 | g.62013019C>T | CA618227283 | VPS13C | c.825+20G>A (n.825+20G>A) c.696+20G>A (n.696+20G>A) n.877+20G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.62013021A= | CA2181971823 | VPS13C | c.825+18T= (n.825+18T=) c.696+18T= (n.696+18T=) n.877+18T= | |
15 | g.62013021A>G | CA7597352 | VPS13C | c.825+18T>C (n.825+18T>C) c.696+18T>C (n.696+18T>C) n.877+18T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013022G>A | CA7597353 | VPS13C | c.825+17C>T (n.825+17C>T) c.696+17C>T (n.696+17C>T) n.877+17C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013022G>C | CA2628797820 | VPS13C | c.825+17C>G (n.825+17C>G) c.696+17C>G (n.696+17C>G) n.877+17C>G | gnomAD v4 |
15 | g.62013022G= | CA2181971824 | VPS13C | c.825+17C= (n.825+17C=) c.696+17C= (n.696+17C=) n.877+17C= | |
15 | g.62013022G>T | CA2628797819 | VPS13C | c.825+17C>A (n.825+17C>A) c.696+17C>A (n.696+17C>A) n.877+17C>A | gnomAD v4 |
15 | g.62013024A= | CA2181971825 | VPS13C | c.825+15T= (n.825+15T=) c.696+15T= (n.696+15T=) n.877+15T= | |
15 | g.62013024A>G | CA7597354 | VPS13C | c.825+15T>C (n.825+15T>C) c.696+15T>C (n.696+15T>C) n.877+15T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013025T>A | CA2628797821 | VPS13C | c.825+14A>T (n.825+14A>T) c.696+14A>T (n.696+14A>T) n.877+14A>T | gnomAD v4 |
15 | g.62013025T>C | CA7597355 | VPS13C | c.825+14A>G (n.825+14A>G) c.696+14A>G (n.696+14A>G) n.877+14A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013025T= | CA2181971826 | VPS13C | c.825+14A= (n.825+14A=) c.696+14A= (n.696+14A=) n.877+14A= | |
15 | g.62013027C= | CA2181971827 | VPS13C | c.825+12G= (n.825+12G=) c.696+12G= (n.696+12G=) n.877+12G= | |
15 | g.62013027C>T | CA7597356 | VPS13C | c.825+12G>A (n.825+12G>A) c.696+12G>A (n.696+12G>A) n.877+12G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013028A>C | CA2628797822 | VPS13C | c.825+11T>G (n.825+11T>G) c.696+11T>G (n.696+11T>G) n.877+11T>G | gnomAD v4 |
15 | g.62013029T>A | CA7597357 | VPS13C | c.825+10A>T (n.825+10A>T) c.696+10A>T (n.696+10A>T) n.877+10A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013029T>C | CA2804421601 | VPS13C | c.825+10A>G (n.825+10A>G) c.696+10A>G (n.696+10A>G) n.877+10A>G | |
15 | g.62013029T= | CA2181971828 | VPS13C | c.825+10A= (n.825+10A=) c.696+10A= (n.696+10A=) n.877+10A= | |
15 | g.62013032A= | CA2181971829 | VPS13C | c.825+7T= (n.825+7T=) c.696+7T= (n.696+7T=) n.877+7T= | |
15 | g.62013032A>G | CA618508636 | VPS13C | c.825+7T>C (n.825+7T>C) c.696+7T>C (n.696+7T>C) n.877+7T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013034A>G | CA2628797823 | VPS13C | c.825+5T>C (n.825+5T>C) c.696+5T>C (n.696+5T>C) n.877+5T>C | gnomAD v4 |
15 | g.62013036T>C | CA2628797824 | VPS13C | c.825+3A>G (n.825+3A>G) c.696+3A>G (n.696+3A>G) n.877+3A>G | gnomAD v4 |
15 | g.62013037A>C | CA392689740 | VPS13C | c.825+2T>G (n.825+2T>G) c.696+2T>G (n.696+2T>G) n.877+2T>G | |
15 | g.62013037A>G | CA392689741 | VPS13C | c.825+2T>C (n.825+2T>C) c.696+2T>C (n.696+2T>C) n.877+2T>C | ClinVar |
15 | g.62013037A>T | CA392689742 | VPS13C | c.825+2T>A (n.825+2T>A) c.696+2T>A (n.696+2T>A) n.877+2T>A | |
15 | g.62013038C>A | CA392689743 | VPS13C | c.825+1G>T (n.825+1G>T) c.696+1G>T (n.696+1G>T) n.877+1G>T | |
15 | g.62013038C= | CA2181971830 | VPS13C | c.825+1G= (n.825+1G=) c.696+1G= (n.696+1G=) n.877+1G= | |
15 | g.62013038C>G | CA392689744 | VPS13C | c.825+1G>C (n.825+1G>C) c.696+1G>C (n.696+1G>C) n.877+1G>C | |
15 | g.62013038C>T | CA7597358 | VPS13C | c.825+1G>A (n.825+1G>A) c.696+1G>A (n.696+1G>A) n.877+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013039C>A | CA392689745 | VPS13C | c.825G>T (p.Leu275Phe) c.696G>T (p.Leu232Phe) n.877G>T | |
15 | g.62013039C>G | CA392689746 | VPS13C | c.825G>C (p.Leu275Phe) c.696G>C (p.Leu232Phe) n.877G>C | |
15 | g.62013039C>T | CA490644939 | VPS13C | c.825G>A (p.Leu275=) c.696G>A (p.Leu232=) n.877G>A | |
15 | g.62013040A>C | CA392689747 | VPS13C | c.824T>G (p.Leu275Trp) c.695T>G (p.Leu232Trp) n.876T>G | |
15 | g.62013040A>G | CA392689748 | VPS13C | c.824T>C (p.Leu275Ser) c.695T>C (p.Leu232Ser) n.876T>C | |
15 | g.62013040A>T | CA392689749 | VPS13C | c.824T>A (p.Leu275Ter) c.695T>A (p.Leu232Ter) n.876T>A | |
15 | g.62013041A>C | CA392689750 | VPS13C | c.823T>G (p.Leu275Val) c.694T>G (p.Leu232Val) n.875T>G | |
15 | g.62013041A>G | CA490644941 | VPS13C | c.823T>C (p.Leu275=) c.694T>C (p.Leu232=) n.875T>C | |
15 | g.62013041A>T | CA392689751 | VPS13C | c.823T>A (p.Leu275Met) c.694T>A (p.Leu232Met) n.875T>A | |
15 | g.62013042A= | CA2181971831 | VPS13C | c.822T= (p.Ile274=) c.693T= (p.Ile231=) n.874T= | |
15 | g.62013042A>C | CA392689752 | VPS13C | c.822T>G (p.Ile274Met) c.693T>G (p.Ile231Met) n.874T>G | |
15 | g.62013042A>G | CA490644942 | VPS13C | c.822T>C (p.Ile274=) c.693T>C (p.Ile231=) n.874T>C | |
15 | g.62013042A>T | CA490644943 | VPS13C | c.822T>A (p.Ile274=) c.693T>A (p.Ile231=) n.874T>A | dbSNP |
15 | g.62013043A= | CA2181971832 | VPS13C | c.821T= (p.Ile274=) c.692T= (p.Ile231=) n.873T= | |
15 | g.62013043A>C | CA7597359 | VPS13C | c.821T>G (p.Ile274Ser) c.692T>G (p.Ile231Ser) n.873T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013043A>G | CA392689753 | VPS13C | c.821T>C (p.Ile274Thr) c.692T>C (p.Ile231Thr) n.873T>C | gnomAD v4 |
15 | g.62013043A>T | CA392689754 | VPS13C | c.821T>A (p.Ile274Asn) c.692T>A (p.Ile231Asn) n.873T>A | |
15 | g.62013044T>A | CA392689756 | VPS13C | c.820A>T (p.Ile274Phe) c.691A>T (p.Ile231Phe) n.872A>T | |
15 | g.62013044T>C | CA392689757 | VPS13C | c.820A>G (p.Ile274Val) c.691A>G (p.Ile231Val) n.872A>G | |
15 | g.62013044T>G | CA392689755 | VPS13C | c.820A>C (p.Ile274Leu) c.691A>C (p.Ile231Leu) n.872A>C | |
15 | g.62013045C>A | CA392689759 | VPS13C | c.819G>T (p.Gln273His) c.690G>T (p.Gln230His) n.871G>T | |
15 | g.62013045C>G | CA392689758 | VPS13C | c.819G>C (p.Gln273His) c.690G>C (p.Gln230His) n.871G>C | |
15 | g.62013045C>T | CA490644944 | VPS13C | c.819G>A (p.Gln273=) c.690G>A (p.Gln230=) n.871G>A | |
15 | g.62013046T>A | CA392689760 | VPS13C | c.818A>T (p.Gln273Leu) c.689A>T (p.Gln230Leu) n.870A>T | |
15 | g.62013046T>C | CA7597360 | VPS13C | c.818A>G (p.Gln273Arg) c.689A>G (p.Gln230Arg) n.870A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013046T>G | CA392689761 | VPS13C | c.818A>C (p.Gln273Pro) c.689A>C (p.Gln230Pro) n.870A>C | |
15 | g.62013046T= | CA2181971833 | VPS13C | c.818A= (p.Gln273=) c.689A= (p.Gln230=) n.870A= | |
15 | g.62013047G>A | CA392689762 | VPS13C | c.817C>T (p.Gln273Ter) c.688C>T (p.Gln230Ter) n.869C>T | |
15 | g.62013047G>C | CA392689763 | VPS13C | c.817C>G (p.Gln273Glu) c.688C>G (p.Gln230Glu) n.869C>G | ClinVar |
15 | g.62013047G>T | CA392689764 | VPS13C | c.817C>A (p.Gln273Lys) c.688C>A (p.Gln230Lys) n.869C>A | |
15 | g.62013048T>A | CA392689765 | VPS13C | c.816A>T (p.Glu272Asp) c.687A>T (p.Glu229Asp) n.868A>T | |
15 | g.62013048T>C | CA490644945 | VPS13C | c.816A>G (p.Glu272=) c.687A>G (p.Glu229=) n.868A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62013048T>G | CA392689766 | VPS13C | c.816A>C (p.Glu272Asp) c.687A>C (p.Glu229Asp) n.868A>C | |
15 | g.62013048T= | CA2181971834 | VPS13C | c.816A= (p.Glu272=) c.687A= (p.Glu229=) n.868A= | |
15 | g.62013049T>A | CA392689767 | VPS13C | c.815A>T (p.Glu272Val) c.686A>T (p.Glu229Val) n.867A>T | |
15 | g.62013049T>C | CA392689768 | VPS13C | c.815A>G (p.Glu272Gly) c.686A>G (p.Glu229Gly) n.867A>G | |
15 | g.62013049T>G | CA392689769 | VPS13C | c.815A>C (p.Glu272Ala) c.686A>C (p.Glu229Ala) n.867A>C | |
15 | g.62013050C>A | CA392689770 | VPS13C | c.814G>T (p.Glu272Ter) c.685G>T (p.Glu229Ter) n.866G>T | |
15 | g.62013050C= | CA2181971835 | VPS13C | c.814G= (p.Glu272=) c.685G= (p.Glu229=) n.866G= | |
15 | g.62013050C>G | CA392689771 | VPS13C | c.814G>C (p.Glu272Gln) c.685G>C (p.Glu229Gln) n.866G>C | gnomAD v4 |
15 | g.62013050C>T | CA7597361 | VPS13C | c.814G>A (p.Glu272Lys) c.685G>A (p.Glu229Lys) n.866G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013052dup | CA2628797825 | VPS13C | c.814dup (p.Glu272GlyfsTer10) c.685dup (p.Glu229GlyfsTer10) n.866dup | gnomAD v4 |
15 | g.62013051C>A | CA392689772 | VPS13C | c.813G>T (p.Arg271Ser) c.684G>T (p.Arg228Ser) n.865G>T | |
15 | g.62013051C>G | CA392689773 | VPS13C | c.813G>C (p.Arg271Ser) c.684G>C (p.Arg228Ser) n.865G>C | |
15 | g.62013051C>T | CA490644946 | VPS13C | c.813G>A (p.Arg271=) c.684G>A (p.Arg228=) n.865G>A | gnomAD v4 |
15 | g.62013052C>A | CA392689774 | VPS13C | c.812G>T (p.Arg271Met) c.683G>T (p.Arg228Met) n.864G>T | |
15 | g.62013052C>G | CA392689775 | VPS13C | c.812G>C (p.Arg271Thr) c.683G>C (p.Arg228Thr) n.864G>C | |
15 | g.62013052C>T | CA392689776 | VPS13C | c.812G>A (p.Arg271Lys) c.683G>A (p.Arg228Lys) n.864G>A | |
15 | g.62013053T>A | CA392689778 | VPS13C | c.811A>T (p.Arg271Trp) c.682A>T (p.Arg228Trp) n.863A>T | |
15 | g.62013053T>C | CA392689777 | VPS13C | c.811A>G (p.Arg271Gly) c.682A>G (p.Arg228Gly) n.863A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.62013053T>G | CA490644947 | VPS13C | c.811A>C (p.Arg271=) c.682A>C (p.Arg228=) n.863A>C | |
15 | g.62013053T= | CA2181971836 | VPS13C | c.811A= (p.Arg271=) c.682A= (p.Arg228=) n.863A= | |
15 | g.62013054T>A | CA490644948 | VPS13C | c.810A>T (p.Ser270=) c.681A>T (p.Ser227=) n.862A>T | |
15 | g.62013054T>C | CA490644949 | VPS13C | c.810A>G (p.Ser270=) c.681A>G (p.Ser227=) n.862A>G | |
15 | g.62013054T>G | CA490644950 | VPS13C | c.810A>C (p.Ser270=) c.681A>C (p.Ser227=) n.862A>C | gnomAD v4 |
15 | g.62013055G>A | CA7597362 | VPS13C | c.809C>T (p.Ser270Leu) c.680C>T (p.Ser227Leu) n.861C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013055G>C | CA392689779 | VPS13C | c.809C>G (p.Ser270Ter) c.680C>G (p.Ser227Ter) n.861C>G | |
15 | g.62013055G= | CA2181971837 | VPS13C | c.809C= (p.Ser270=) c.680C= (p.Ser227=) n.861C= | |
15 | g.62013055G>T | CA392689780 | VPS13C | c.809C>A (p.Ser270Ter) c.680C>A (p.Ser227Ter) n.861C>A | gnomAD v4 |
15 | g.62013056A>C | CA392689781 | VPS13C | c.808T>G (p.Ser270Ala) c.679T>G (p.Ser227Ala) n.860T>G | |
15 | g.62013056A>G | CA392689782 | VPS13C | c.808T>C (p.Ser270Pro) c.679T>C (p.Ser227Pro) n.860T>C | |
15 | g.62013056A>T | CA392689783 | VPS13C | c.808T>A (p.Ser270Thr) c.679T>A (p.Ser227Thr) n.860T>A | |
15 | g.62013057T>A | CA392689785 | VPS13C | c.807A>T (p.Arg269Ser) c.678A>T (p.Arg226Ser) n.859A>T | |
15 | g.62013057T>C | CA7597363 | VPS13C | c.807A>G (p.Arg269=) c.678A>G (p.Arg226=) n.859A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.62013057T>G | CA392689784 | VPS13C | c.807A>C (p.Arg269Ser) c.678A>C (p.Arg226Ser) n.859A>C | |
15 | g.62013057T= | CA2181971838 | VPS13C | c.807A= (p.Arg269=) c.678A= (p.Arg226=) n.859A= | |
15 | g.62013057_62013058insTCTG | CA10575854 | VPS13C | c.806_807insCAGA (p.Arg269SerfsTer14) c.677_678insCAGA (p.Arg226SerfsTer14) n.858_859insCAGA | ClinVar dbSNP |
15 | g.62013058C>A | CA271924107 | VPS13C | c.806G>T (p.Arg269Ile) c.677G>T (p.Arg226Ile) n.858G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013058C= | CA2181971839 | VPS13C | c.806G= (p.Arg269=) c.677G= (p.Arg226=) n.858G= | |
15 | g.62013058C>G | CA392689786 | VPS13C | c.806G>C (p.Arg269Thr) c.677G>C (p.Arg226Thr) n.858G>C | gnomAD v4 |
15 | g.62013058C>T | CA392689787 | VPS13C | c.806G>A (p.Arg269Lys) c.677G>A (p.Arg226Lys) n.858G>A | COSMIC COSMIC |
15 | g.62013059T>A | CA392689788 | VPS13C | c.805A>T (p.Arg269Ter) c.676A>T (p.Arg226Ter) n.857A>T | |
15 | g.62013059T>C | CA392689789 | VPS13C | c.805A>G (p.Arg269Gly) c.676A>G (p.Arg226Gly) n.857A>G | |
15 | g.62013059T>G | CA490644951 | VPS13C | c.805A>C (p.Arg269=) c.676A>C (p.Arg226=) n.857A>C | |
15 | g.62013059_62013062dup | CA358731 | VPS13C | c.802_805dup (p.Arg269ThrfsTer14) c.673_676dup (p.Arg226ThrfsTer14) n.854_857dup | ClinVar dbSNP |
15 | g.62013060C>A | CA392689790 | VPS13C | c.804G>T (p.Gln268His) c.675G>T (p.Gln225His) n.856G>T | COSMIC |
15 | g.62013060C>G | CA392689791 | VPS13C | c.804G>C (p.Gln268His) c.675G>C (p.Gln225His) n.856G>C | |
15 | g.62013060C>T | CA490644952 | VPS13C | c.804G>A (p.Gln268=) c.675G>A (p.Gln225=) n.856G>A | |
15 | g.62013061T>A | CA392689792 | VPS13C | c.803A>T (p.Gln268Leu) c.674A>T (p.Gln225Leu) n.855A>T | |
15 | g.62013061T>C | CA392689793 | VPS13C | c.803A>G (p.Gln268Arg) c.674A>G (p.Gln225Arg) n.855A>G | |
15 | g.62013061T>G | CA392689794 | VPS13C | c.803A>C (p.Gln268Pro) c.674A>C (p.Gln225Pro) n.855A>C | |
15 | g.62013062G>A | CA392689796 | VPS13C | c.802C>T (p.Gln268Ter) c.673C>T (p.Gln225Ter) n.854C>T | gnomAD v4 |
15 | g.62013062G>C | CA7597364 | VPS13C | c.802C>G (p.Gln268Glu) c.673C>G (p.Gln225Glu) n.854C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.62013062G= | CA2181971840 | VPS13C | c.802C= (p.Gln268=) c.673C= (p.Gln225=) n.854C= | |
15 | g.62013062G>T | CA392689795 | VPS13C | c.802C>A (p.Gln268Lys) c.673C>A (p.Gln225Lys) n.854C>A | |
15 | g.62013063G>A | CA490644953 | VPS13C | c.801C>T (p.Tyr267=) c.672C>T (p.Tyr224=) n.853C>T | gnomAD v4 |
15 | g.62013063G>C | CA392689797 | VPS13C | c.801C>G (p.Tyr267Ter) c.672C>G (p.Tyr224Ter) n.853C>G | gnomAD v4 |
15 | g.62013063G>T | CA392689798 | VPS13C | c.801C>A (p.Tyr267Ter) c.672C>A (p.Tyr224Ter) n.853C>A |