Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153870329C>A | CA658515072 | L1CAM | c.806+59G>T (n.806+59G>T) c.791+59G>T (n.791+59G>T) | dbSNP gnomAD v4 COSMIC |
X | g.153870329C= | CA2466507112 | L1CAM | c.806+59G= (n.806+59G=) c.791+59G= (n.791+59G=) | |
X | g.153870330C= | CA2466507113 | L1CAM | c.806+58G= (n.806+58G=) c.791+58G= (n.791+58G=) | |
X | g.153870330C>T | CA2466507114 | L1CAM | c.806+58G>A (n.806+58G>A) c.791+58G>A (n.791+58G>A) | dbSNP |
X | g.153870331C= | CA2466507115 | L1CAM | c.806+57G= (n.806+57G=) c.791+57G= (n.791+57G=) | |
X | g.153870331C>G | CA1138548881 | L1CAM | c.806+57G>C (n.806+57G>C) c.791+57G>C (n.791+57G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153870331C>T | CA1138548886 | L1CAM | c.806+57G>A (n.806+57G>A) c.791+57G>A (n.791+57G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153870333G>A | CA2579732990 | L1CAM | c.806+55C>T (n.806+55C>T) c.791+55C>T (n.791+55C>T) | |
X | g.153870333G>T | CA2579732991 | L1CAM | c.806+55C>A (n.806+55C>A) c.791+55C>A (n.791+55C>A) | |
X | g.153870334_153870382delinsTCTTGATCTGTGTCGCCTTTTCCCTGGGGTTTTCCCTTCGCATTCCATCCTCCCTGAGCTTTCTGCTTCCTGAGCGCTCTCCT | CA2697544837 | L1CAM | c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA (n.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA) c.791+6_791+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA (n.791+6_791+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA) | ClinVar |
X | g.153870336A>G | CA2695068613 | L1CAM | c.806+52T>C (n.806+52T>C) c.791+52T>C (n.791+52T>C) | gnomAD v4 |
X | g.153870337G>C | CA10554492 | L1CAM | c.806+51C>G (n.806+51C>G) c.791+51C>G (n.791+51C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870337G= | CA2466507116 | L1CAM | c.806+51C= (n.806+51C=) c.791+51C= (n.791+51C=) | |
X | g.153870337G>T | CA2579732993 | L1CAM | c.806+51C>A (n.806+51C>A) c.791+51C>A (n.791+51C>A) | |
X | g.153870339del | CA2579732992 | L1CAM | c.806+51del (n.806+51del) c.791+51del (n.791+51del) | |
X | g.153870339G= | CA2466507117 | L1CAM | c.806+49C= (n.806+49C=) c.791+49C= (n.791+49C=) | |
X | g.153870339G>T | CA10554493 | L1CAM | c.806+49C>A (n.806+49C>A) c.791+49C>A (n.791+49C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870340C>A | CA2540716484 | L1CAM | c.806+48G>T (n.806+48G>T) c.791+48G>T (n.791+48G>T) | |
X | g.153870340C>T | CA2695068614 | L1CAM | c.806+48G>A (n.806+48G>A) c.791+48G>A (n.791+48G>A) | gnomAD v4 |
X | g.153870343C= | CA2466507118 | L1CAM | c.806+45G= (n.806+45G=) c.791+45G= (n.791+45G=) | |
X | g.153870343C>T | CA10554494 | L1CAM | c.806+45G>A (n.806+45G>A) c.791+45G>A (n.791+45G>A) | dbSNP ExAC gnomAD v4 |
X | g.153870344G>A | CA10554495 | L1CAM | c.806+44C>T (n.806+44C>T) c.791+44C>T (n.791+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870344G= | CA2466507119 | L1CAM | c.806+44C= (n.806+44C=) c.791+44C= (n.791+44C=) | |
X | g.153870344G>T | CA2554143108 | L1CAM | c.806+44C>A (n.806+44C>A) c.791+44C>A (n.791+44C>A) | |
X | g.153870346C= | CA2466507120 | L1CAM | c.806+42G= (n.806+42G=) c.791+42G= (n.791+42G=) | |
X | g.153870346C>T | CA645152260 | L1CAM | c.806+42G>A (n.806+42G>A) c.791+42G>A (n.791+42G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870347A= | CA2466507122 | L1CAM | c.806+41T= (n.806+41T=) c.791+41T= (n.791+41T=) | |
X | g.153870347A>C | CA645152263 | L1CAM | c.806+41T>G (n.806+41T>G) c.791+41T>G (n.791+41T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870347A>G | CA873291108 | L1CAM | c.806+41T>C (n.806+41T>C) c.791+41T>C (n.791+41T>C) | dbSNP |
X | g.153870347_153870352delinsACCCTG | CA2466507121 | L1CAM | c.806+36_806+41delinsCAGGGT (n.806+36_806+41delinsCAGGGT) c.791+36_791+41delinsCAGGGT (n.791+36_791+41delinsCAGGGT) | |
X | g.153870348C>A | CA645152267 | L1CAM | c.806+40G>T (n.806+40G>T) c.791+40G>T (n.791+40G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870348C= | CA2466507123 | L1CAM | c.806+40G= (n.806+40G=) c.791+40G= (n.791+40G=) | |
X | g.153870348C>T | CA645152266 | L1CAM | c.806+40G>A (n.806+40G>A) c.791+40G>A (n.791+40G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870368_153870372dup | CA10554496 | L1CAM | c.806+36_806+40dup (n.806+36_806+40dup) c.791+36_791+40dup (n.791+36_791+40dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870363_153870372dup | CA10554497 | L1CAM | c.806+31_806+40dup (n.806+31_806+40dup) c.791+31_791+40dup (n.791+31_791+40dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870368_153870372del | CA645152269 | L1CAM | c.806+36_806+40del (n.806+36_806+40del) c.791+36_791+40del (n.791+36_791+40del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870363_153870372del | CA2579732994 | L1CAM | c.806+31_806+40del (n.806+31_806+40del) c.791+31_791+40del (n.791+31_791+40del) | gnomAD v4 |
X | g.153870352G>A | CA2579732995 | L1CAM | c.806+36C>T (n.806+36C>T) c.791+36C>T (n.791+36C>T) | |
X | g.153870352G>T | CA2579732996 | L1CAM | c.806+36C>A (n.806+36C>A) c.791+36C>A (n.791+36C>A) | gnomAD v4 |
X | g.153870352_153870353delinsGC | CA2466507124 | L1CAM | c.806+35_806+36delinsGC (n.806+35_806+36delinsGC) c.791+35_791+36delinsGC (n.791+35_791+36delinsGC) | |
X | g.153870353C= | CA2466507125 | L1CAM | c.806+35G= (n.806+35G=) c.791+35G= (n.791+35G=) | |
X | g.153870353C>G | CA645152270 | L1CAM | c.806+35G>C (n.806+35G>C) c.791+35G>C (n.791+35G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870353C>T | CA2695068615 | L1CAM | c.806+35G>A (n.806+35G>A) c.791+35G>A (n.791+35G>A) | gnomAD v4 |
X | g.153870355del | CA1138548904 | L1CAM | c.806+35del (n.806+35del) c.791+35del (n.791+35del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153870355C= | CA2466507126 | L1CAM | c.806+33G= (n.806+33G=) c.791+33G= (n.791+33G=) | |
X | g.153870355C>G | CA645152273 | L1CAM | c.806+33G>C (n.806+33G>C) c.791+33G>C (n.791+33G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870355C>T | CA2579732997 | L1CAM | c.806+33G>A (n.806+33G>A) c.791+33G>A (n.791+33G>A) | |
X | g.153870356T>A | CA2579732998 | L1CAM | c.806+32A>T (n.806+32A>T) c.791+32A>T (n.791+32A>T) | |
X | g.153870357G>T | CA2579732999 | L1CAM | c.806+31C>A (n.806+31C>A) c.791+31C>A (n.791+31C>A) | |
X | g.153870359C= | CA2466507127 | L1CAM | c.806+29G= (n.806+29G=) c.791+29G= (n.791+29G=) | |
X | g.153870359C>G | CA2466507128 | L1CAM | c.806+29G>C (n.806+29G>C) c.791+29G>C (n.791+29G>C) | dbSNP gnomAD v4 |
X | g.153870359C>T | CA658515073 | L1CAM | c.806+29G>A (n.806+29G>A) c.791+29G>A (n.791+29G>A) | COSMIC |
X | g.153870360C>G | CA2695068616 | L1CAM | c.806+28G>C (n.806+28G>C) c.791+28G>C (n.791+28G>C) | gnomAD v4 |
X | g.153870361T>C | CA337263520 | L1CAM | c.806+27A>G (n.806+27A>G) c.791+27A>G (n.791+27A>G) | dbSNP |
X | g.153870361T= | CA2466507129 | L1CAM | c.806+27A= (n.806+27A=) c.791+27A= (n.791+27A=) | |
X | g.153870362G>T | CA2695068617 | L1CAM | c.806+26C>A (n.806+26C>A) c.791+26C>A (n.791+26C>A) | gnomAD v4 |
X | g.153870364C= | CA2466507130 | L1CAM | c.806+24G= (n.806+24G=) c.791+24G= (n.791+24G=) | |
X | g.153870364C>T | CA10554498 | L1CAM | c.806+24G>A (n.806+24G>A) c.791+24G>A (n.791+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870365C= | CA2466507131 | L1CAM | c.806+23G= (n.806+23G=) c.791+23G= (n.791+23G=) | |
X | g.153870365C>T | CA10554499 | L1CAM | c.806+23G>A (n.806+23G>A) c.791+23G>A (n.791+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870366T>C | CA2579733000 | L1CAM | c.806+22A>G (n.806+22A>G) c.791+22A>G (n.791+22A>G) | |
X | g.153870367G>A | CA2695068618 | L1CAM | c.806+21C>T (n.806+21C>T) c.791+21C>T (n.791+21C>T) | gnomAD v4 |
X | g.153870368C>A | CA519208623 | L1CAM | c.806+20G>T (n.806+20G>T) c.791+20G>T (n.791+20G>T) | ClinVar gnomAD v4 |
X | g.153870368C= | CA2466507132 | L1CAM | c.806+20G= (n.806+20G=) c.791+20G= (n.791+20G=) | |
X | g.153870368C>T | CA337263536 | L1CAM | c.806+20G>A (n.806+20G>A) c.791+20G>A (n.791+20G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153870369C= | CA2466507133 | L1CAM | c.806+19G= (n.806+19G=) c.791+19G= (n.791+19G=) | |
X | g.153870369C>G | CA1138548911 | L1CAM | c.806+19G>C (n.806+19G>C) c.791+19G>C (n.791+19G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153870370C>A | CA645152278 | L1CAM | c.806+18G>T (n.806+18G>T) c.791+18G>T (n.791+18G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870370C= | CA2466507134 | L1CAM | c.806+18G= (n.806+18G=) c.791+18G= (n.791+18G=) | |
X | g.153870370C>T | CA10554500 | L1CAM | c.806+18G>A (n.806+18G>A) c.791+18G>A (n.791+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870372G>A | CA2695068620 | L1CAM | c.806+16C>T (n.806+16C>T) c.791+16C>T (n.791+16C>T) | gnomAD v4 |
X | g.153870372G>C | CA2739273901 | L1CAM | c.806+16C>G (n.806+16C>G) c.791+16C>G (n.791+16C>G) | ClinVar |
X | g.153870372G= | CA2466507135 | L1CAM | c.806+16C= (n.806+16C=) c.791+16C= (n.791+16C=) | |
X | g.153870372G>T | CA10554501 | L1CAM | c.806+16C>A (n.806+16C>A) c.791+16C>A (n.791+16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870374del | CA2695068619 | L1CAM | c.806+16del (n.806+16del) c.791+16del (n.791+16del) | gnomAD v4 |
X | g.153870373G>A | CA2695068621 | L1CAM | c.806+15C>T (n.806+15C>T) c.791+15C>T (n.791+15C>T) | ClinVar gnomAD v4 |
X | g.153870373G>T | CA2579733001 | L1CAM | c.806+15C>A (n.806+15C>A) c.791+15C>A (n.791+15C>A) | |
X | g.153870374G>A | CA10554502 | L1CAM | c.806+14C>T (n.806+14C>T) c.791+14C>T (n.791+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870374G= | CA2466507136 | L1CAM | c.806+14C= (n.806+14C=) c.791+14C= (n.791+14C=) | |
X | g.153870374G>T | CA645152280 | L1CAM | c.806+14C>A (n.806+14C>A) c.791+14C>A (n.791+14C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153870377C>T | CA2551645175 | L1CAM | c.806+11G>A (n.806+11G>A) c.791+11G>A (n.791+11G>A) | gnomAD v4 |
X | g.153870379del | CA2579733002 | L1CAM | c.806+11del (n.806+11del) c.791+11del (n.791+11del) | |
X | g.153870378C= | CA2466507137 | L1CAM | c.806+10G= (n.806+10G=) c.791+10G= (n.791+10G=) | |
X | g.153870378C>G | CA2466507138 | L1CAM | c.806+10G>C (n.806+10G>C) c.791+10G>C (n.791+10G>C) | ClinVar dbSNP |
X | g.153870380A>T | CA2697544838 | L1CAM | c.806+8T>A (n.806+8T>A) c.791+8T>A (n.791+8T>A) | ClinVar |
X | g.153870383C= | CA2466507139 | L1CAM | c.806+5G= (n.806+5G=) c.791+5G= (n.791+5G=) | |
X | g.153870383C>G | CA2580612518 | L1CAM | c.806+5G>C (n.806+5G>C) c.791+5G>C (n.791+5G>C) | ClinVar |
X | g.153870383C>T | CA10583933 | L1CAM | c.806+5G>A (n.806+5G>A) c.791+5G>A (n.791+5G>A) | ClinVar dbSNP |
X | g.153870384T>A | CA2513479282 | L1CAM | c.806+4A>T (n.806+4A>T) c.791+4A>T (n.791+4A>T) | gnomAD v4 |
X | g.153870386A>C | CA415132795 | L1CAM | c.806+2T>G (n.806+2T>G) c.791+2T>G (n.791+2T>G) | |
X | g.153870386A>G | CA415132798 | L1CAM | c.806+2T>C (n.806+2T>C) c.791+2T>C (n.791+2T>C) | |
X | g.153870386A>T | CA415132802 | L1CAM | c.806+2T>A (n.806+2T>A) c.791+2T>A (n.791+2T>A) | |
X | g.153870387C>A | CA415132807 | L1CAM | c.806+1G>T (n.806+1G>T) c.791+1G>T (n.791+1G>T) | |
X | g.153870387C= | CA2466507140 | L1CAM | c.806+1G= (n.806+1G=) c.791+1G= (n.791+1G=) | |
X | g.153870387C>G | CA16621237 | L1CAM | c.806+1G>C (n.806+1G>C) c.791+1G>C (n.791+1G>C) | ClinVar dbSNP |
X | g.153870387C>T | CA415132810 | L1CAM | c.806+1G>A (n.806+1G>A) c.791+1G>A (n.791+1G>A) | |
X | g.153870388A= | CA2466507141 | L1CAM | c.806T= (p.Phe269=) c.791T= (p.Phe264=) | |
X | g.153870388A>C | CA415132824 | L1CAM | c.806T>G (p.Phe269Cys) c.791T>G (p.Phe264Cys) | |
X | g.153870388A>G | CA415132826 | L1CAM | c.806T>C (p.Phe269Ser) c.791T>C (p.Phe264Ser) | ClinVar dbSNP gnomAD v4 |
X | g.153870388A>T | CA415132828 | L1CAM | c.806T>A (p.Phe269Tyr) c.791T>A (p.Phe264Tyr) | |
X | g.153870389A>C | CA415132837 | L1CAM | c.805T>G (p.Phe269Val) c.790T>G (p.Phe264Val) | |
X | g.153870389A>G | CA415132840 | L1CAM | c.805T>C (p.Phe269Leu) c.790T>C (p.Phe264Leu) | |
X | g.153870389A>T | CA415132844 | L1CAM | c.805T>A (p.Phe269Ile) c.790T>A (p.Phe264Ile) | |
X | g.153870390G>A | CA519208674 | L1CAM | c.804C>T (p.Gly268=) c.789C>T (p.Gly263=) | |
X | g.153870390G>C | CA519208673 | L1CAM | c.804C>G (p.Gly268=) c.789C>G (p.Gly263=) | |
X | g.153870390G= | CA2466507142 | L1CAM | c.804C= (p.Gly268=) c.789C= (p.Gly263=) | |
X | g.153870390G>T | CA10554503 | L1CAM | c.804C>A (p.Gly268=) c.789C>A (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870391C>A | CA415132848 | L1CAM | c.803G>T (p.Gly268Val) c.788G>T (p.Gly263Val) | |
X | g.153870391C>G | CA415132849 | L1CAM | c.803G>C (p.Gly268Ala) c.788G>C (p.Gly263Ala) | |
X | g.153870391C>T | CA415132850 | L1CAM | c.803G>A (p.Gly268Asp) c.788G>A (p.Gly263Asp) | |
X | g.153870392C>A | CA415132858 | L1CAM | c.802G>T (p.Gly268Cys) c.787G>T (p.Gly263Cys) | |
X | g.153870392C>G | CA415132855 | L1CAM | c.802G>C (p.Gly268Arg) c.787G>C (p.Gly263Arg) | |
X | g.153870392C>T | CA415132853 | L1CAM | c.802G>A (p.Gly268Ser) c.787G>A (p.Gly263Ser) | gnomAD v4 |
X | g.153870393C>A | CA415132871 | L1CAM | c.801G>T (p.Glu267Asp) c.786G>T (p.Glu262Asp) | |
X | g.153870393C= | CA2466507143 | L1CAM | c.801G= (p.Glu267=) c.786G= (p.Glu262=) | |
X | g.153870393C>G | CA415132874 | L1CAM | c.801G>C (p.Glu267Asp) c.786G>C (p.Glu262Asp) | |
X | g.153870393C>T | CA10554504 | L1CAM | c.801G>A (p.Glu267=) c.786G>A (p.Glu262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870394T>A | CA415132880 | L1CAM | c.800A>T (p.Glu267Val) c.785A>T (p.Glu262Val) | |
X | g.153870394T>C | CA415132885 | L1CAM | c.800A>G (p.Glu267Gly) c.785A>G (p.Glu262Gly) | |
X | g.153870394T>G | CA415132888 | L1CAM | c.800A>C (p.Glu267Ala) c.785A>C (p.Glu262Ala) | |
X | g.153870394dup | CA519208696 | L1CAM | c.800dup (p.Phe269LeufsTer?) c.785dup (p.Phe264LeufsTer?) | |
X | g.153870395C>A | CA415132891 | L1CAM | c.799G>T (p.Glu267Ter) c.784G>T (p.Glu262Ter) | |
X | g.153870395C= | CA2466507144 | L1CAM | c.799G= (p.Glu267=) c.784G= (p.Glu262=) | |
X | g.153870395C>G | CA415132893 | L1CAM | c.799G>C (p.Glu267Gln) c.784G>C (p.Glu262Gln) | |
X | g.153870395C>T | CA10554505 | L1CAM | c.799G>A (p.Glu267Lys) c.784G>A (p.Glu262Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870396G>A | CA10554506 | L1CAM | c.798C>T (p.Ala266=) c.783C>T (p.Ala261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870396G>C | CA519208705 | L1CAM | c.798C>G (p.Ala266=) c.783C>G (p.Ala261=) | ClinVar |
X | g.153870396G= | CA2466507145 | L1CAM | c.798C= (p.Ala266=) c.783C= (p.Ala261=) | |
X | g.153870396G>T | CA519208715 | L1CAM | c.798C>A (p.Ala266=) c.783C>A (p.Ala261=) | |
X | g.153870397G>A | CA415132904 | L1CAM | c.797C>T (p.Ala266Val) c.782C>T (p.Ala261Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870397G>C | CA415132908 | L1CAM | c.797C>G (p.Ala266Gly) c.782C>G (p.Ala261Gly) | |
X | g.153870397G= | CA2466507146 | L1CAM | c.797C= (p.Ala266=) c.782C= (p.Ala261=) | |
X | g.153870397G>T | CA415132912 | L1CAM | c.797C>A (p.Ala266Asp) c.782C>A (p.Ala261Asp) | |
X | g.153870398C>A | CA415132920 | L1CAM | c.796G>T (p.Ala266Ser) c.781G>T (p.Ala261Ser) | |
X | g.153870398C= | CA2466507147 | L1CAM | c.796G= (p.Ala266=) c.781G= (p.Ala261=) | |
X | g.153870398C>G | CA415132917 | L1CAM | c.796G>C (p.Ala266Pro) c.781G>C (p.Ala261Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870398C>T | CA415132915 | L1CAM | c.796G>A (p.Ala266Thr) c.781G>A (p.Ala261Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153870399G>A | CA10554507 | L1CAM | c.795C>T (p.Ile265=) c.780C>T (p.Ile260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870399G>C | CA415132928 | L1CAM | c.795C>G (p.Ile265Met) c.780C>G (p.Ile260Met) | |
X | g.153870399G= | CA2466507148 | L1CAM | c.795C= (p.Ile265=) c.780C= (p.Ile260=) | |
X | g.153870399G>T | CA519208740 | L1CAM | c.795C>A (p.Ile265=) c.780C>A (p.Ile260=) | |
X | g.153870400A>C | CA415132931 | L1CAM | c.794T>G (p.Ile265Ser) c.779T>G (p.Ile260Ser) | |
X | g.153870400A>G | CA415132933 | L1CAM | c.794T>C (p.Ile265Thr) c.779T>C (p.Ile260Thr) | |
X | g.153870400A>T | CA415132937 | L1CAM | c.794T>A (p.Ile265Asn) c.779T>A (p.Ile260Asn) | |
X | g.153870401T>A | CA415132947 | L1CAM | c.793A>T (p.Ile265Phe) c.778A>T (p.Ile260Phe) | |
X | g.153870401T>C | CA415132951 | L1CAM | c.793A>G (p.Ile265Val) c.778A>G (p.Ile260Val) | |
X | g.153870401T>G | CA415132955 | L1CAM | c.793A>C (p.Ile265Leu) c.778A>C (p.Ile260Leu) | |
X | g.153870402G>A | CA519208758 | L1CAM | c.792C>T (p.Cys264=) c.777C>T (p.Cys259=) | |
X | g.153870402G>C | CA415132960 | L1CAM | c.792C>G (p.Cys264Trp) c.777C>G (p.Cys259Trp) | |
X | g.153870402G>T | CA415132963 | L1CAM | c.792C>A (p.Cys264Ter) c.777C>A (p.Cys259Ter) | |
X | g.153870403C>A | CA415132966 | L1CAM | c.791G>T (p.Cys264Phe) c.776G>T (p.Cys259Phe) | ClinVar dbSNP |
X | g.153870403C= | CA2466507149 | L1CAM | c.791G= (p.Cys264=) c.776G= (p.Cys259=) | |
X | g.153870403C>G | CA415132969 | L1CAM | c.791G>C (p.Cys264Ser) c.776G>C (p.Cys259Ser) | |
X | g.153870403C>T | CA254954 | L1CAM | c.791G>A (p.Cys264Tyr) c.776G>A (p.Cys259Tyr) | ClinVar dbSNP |
X | g.153870404A>C | CA415132985 | L1CAM | c.790T>G (p.Cys264Gly) c.775T>G (p.Cys259Gly) | |
X | g.153870404A>G | CA415132988 | L1CAM | c.790T>C (p.Cys264Arg) c.775T>C (p.Cys259Arg) | |
X | g.153870404A>T | CA415132976 | L1CAM | c.790T>A (p.Cys264Ser) c.775T>A (p.Cys259Ser) | |
X | g.153870405C>A | CA415132993 | L1CAM | c.789G>T (p.Glu263Asp) c.774G>T (p.Glu258Asp) | |
X | g.153870405C>G | CA415132996 | L1CAM | c.789G>C (p.Glu263Asp) c.774G>C (p.Glu258Asp) | |
X | g.153870405C>T | CA519208785 | L1CAM | c.789G>A (p.Glu263=) c.774G>A (p.Glu258=) | gnomAD v4 |
X | g.153870406T>A | CA415133000 | L1CAM | c.788A>T (p.Glu263Val) c.773A>T (p.Glu258Val) | |
X | g.153870406T>C | CA415133002 | L1CAM | c.788A>G (p.Glu263Gly) c.773A>G (p.Glu258Gly) | |
X | g.153870406T>G | CA415133003 | L1CAM | c.788A>C (p.Glu263Ala) c.773A>C (p.Glu258Ala) | |
X | g.153870407C>A | CA415133006 | L1CAM | c.787G>T (p.Glu263Ter) c.772G>T (p.Glu258Ter) | |
X | g.153870407C>G | CA415133014 | L1CAM | c.787G>C (p.Glu263Gln) c.772G>C (p.Glu258Gln) | |
X | g.153870407C>T | CA415133016 | L1CAM | c.787G>A (p.Glu263Lys) c.772G>A (p.Glu258Lys) | |
X | g.153870408C>A | CA519208802 | L1CAM | c.786G>T (p.Leu262=) c.771G>T (p.Leu257=) | |
X | g.153870408C>G | CA519208810 | L1CAM | c.786G>C (p.Leu262=) c.771G>C (p.Leu257=) | |
X | g.153870408C>T | CA519208806 | L1CAM | c.786G>A (p.Leu262=) c.771G>A (p.Leu257=) | gnomAD v4 |
X | g.153870409A= | CA2466507150 | L1CAM | c.785T= (p.Leu262=) c.770T= (p.Leu257=) | |
X | g.153870409A>C | CA415133019 | L1CAM | c.785T>G (p.Leu262Arg) c.770T>G (p.Leu257Arg) | ClinVar dbSNP |
X | g.153870409A>G | CA415133022 | L1CAM | c.785T>C (p.Leu262Pro) c.770T>C (p.Leu257Pro) | |
X | g.153870409A>T | CA415133026 | L1CAM | c.785T>A (p.Leu262Gln) c.770T>A (p.Leu257Gln) | |
X | g.153870409_153870416del | CA2695236875 | L1CAM | c.778_785del (p.Leu260GlyfsTer?) c.763_770del (p.Leu255GlyfsTer?) | |
X | g.153870410G>A | CA519208822 | L1CAM | c.784C>T (p.Leu262=) c.769C>T (p.Leu257=) | dbSNP gnomAD v4 |
X | g.153870410G>C | CA415133028 | L1CAM | c.784C>G (p.Leu262Val) c.769C>G (p.Leu257Val) | |
X | g.153870410G= | CA2466507151 | L1CAM | c.784C= (p.Leu262=) c.769C= (p.Leu257=) | |
X | g.153870410G>T | CA415133032 | L1CAM | c.784C>A (p.Leu262Met) c.769C>A (p.Leu257Met) | |
X | g.153870411G>A | CA519208832 | L1CAM | c.783C>T (p.Val261=) c.768C>T (p.Val256=) | |
X | g.153870411G>C | CA519208834 | L1CAM | c.783C>G (p.Val261=) c.768C>G (p.Val256=) | |
X | g.153870411G>T | CA519208836 | L1CAM | c.783C>A (p.Val261=) c.768C>A (p.Val256=) | |
X | g.153870412A>C | CA415133044 | L1CAM | c.782T>G (p.Val261Gly) c.767T>G (p.Val256Gly) | |
X | g.153870412A>G | CA415133051 | L1CAM | c.782T>C (p.Val261Ala) c.767T>C (p.Val256Ala) | |
X | g.153870412A>T | CA415133049 | L1CAM | c.782T>A (p.Val261Asp) c.767T>A (p.Val256Asp) | |
X | g.153870413C>A | CA415133056 | L1CAM | c.781G>T (p.Val261Phe) c.766G>T (p.Val256Phe) | |
X | g.153870413C= | CA2466507152 | L1CAM | c.781G= (p.Val261=) c.766G= (p.Val256=) | |
X | g.153870413C>G | CA415133058 | L1CAM | c.781G>C (p.Val261Leu) c.766G>C (p.Val256Leu) | dbSNP |
X | g.153870413C>T | CA415133062 | L1CAM | c.781G>A (p.Val261Ile) c.766G>A (p.Val256Ile) | |
X | g.153870414C>A | CA415133065 | L1CAM | c.780G>T (p.Leu260Phe) c.765G>T (p.Leu255Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153870414C= | CA2466507153 | L1CAM | c.780G= (p.Leu260=) c.765G= (p.Leu255=) | |
X | g.153870414C>G | CA415133067 | L1CAM | c.780G>C (p.Leu260Phe) c.765G>C (p.Leu255Phe) | |
X | g.153870414C>T | CA519208854 | L1CAM | c.780G>A (p.Leu260=) c.765G>A (p.Leu255=) | dbSNP |
X | g.153870415A>C | CA415133069 | L1CAM | c.779T>G (p.Leu260Trp) c.764T>G (p.Leu255Trp) | |
X | g.153870415A>G | CA415133073 | L1CAM | c.779T>C (p.Leu260Ser) c.764T>C (p.Leu255Ser) | |
X | g.153870415A>T | CA415133077 | L1CAM | c.779T>A (p.Leu260Ter) c.764T>A (p.Leu255Ter) | |
X | g.153870416A>C | CA415133079 | L1CAM | c.778T>G (p.Leu260Val) c.763T>G (p.Leu255Val) | |
X | g.153870416A>G | CA519208868 | L1CAM | c.778T>C (p.Leu260=) c.763T>C (p.Leu255=) | |
X | g.153870416A>T | CA415133082 | L1CAM | c.778T>A (p.Leu260Met) c.763T>A (p.Leu255Met) | |
X | g.153870417T>A | CA519208870 | L1CAM | c.777A>T (p.Pro259=) c.762A>T (p.Pro254=) | |
X | g.153870417T>C | CA519208871 | L1CAM | c.777A>G (p.Pro259=) c.762A>G (p.Pro254=) | ClinVar |
X | g.153870417T>G | CA519208872 | L1CAM | c.777A>C (p.Pro259=) c.762A>C (p.Pro254=) | |
X | g.153870418G>A | CA415133085 | L1CAM | c.776C>T (p.Pro259Leu) c.761C>T (p.Pro254Leu) | |
X | g.153870418G>C | CA415133090 | L1CAM | c.776C>G (p.Pro259Arg) c.761C>G (p.Pro254Arg) | |
X | g.153870418G>T | CA415133087 | L1CAM | c.776C>A (p.Pro259Gln) c.761C>A (p.Pro254Gln) | |
X | g.153870419del | CA2579733003 | L1CAM | c.776del (p.Pro259HisfsTer?) c.761del (p.Pro254HisfsTer?) | |
X | g.153870419G>A | CA415133094 | L1CAM | c.775C>T (p.Pro259Ser) c.760C>T (p.Pro254Ser) | |
X | g.153870419G>C | CA415133097 | L1CAM | c.775C>G (p.Pro259Ala) c.760C>G (p.Pro254Ala) | |
X | g.153870419G>T | CA415133095 | L1CAM | c.775C>A (p.Pro259Thr) c.760C>A (p.Pro254Thr) | gnomAD v4 |
X | g.153870419_153870476delinsCTGTCAATGT | CA2499226460 | L1CAM | c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) c.703_760delinsACATTGACAG (p.Pro235_Pro254delinsThrLeuThrAla) | ClinVar dbSNP |
X | g.153870420C>A | CA415133100 | L1CAM | c.774G>T (p.Gln258His) c.759G>T (p.Gln253His) | |
X | g.153870420C= | CA2466507154 | L1CAM | c.774G= (p.Gln258=) c.759G= (p.Gln253=) | |
X | g.153870420C>G | CA415133102 | L1CAM | c.774G>C (p.Gln258His) c.759G>C (p.Gln253His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153870420C>T | CA337263561 | L1CAM | c.774G>A (p.Gln258=) c.759G>A (p.Gln253=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153870421T>A | CA415133104 | L1CAM | c.773A>T (p.Gln258Leu) c.758A>T (p.Gln253Leu) | |
X | g.153870421T>C | CA415133107 | L1CAM | c.773A>G (p.Gln258Arg) c.758A>G (p.Gln253Arg) | |
X | g.153870421T>G | CA415133110 | L1CAM | c.773A>C (p.Gln258Pro) c.758A>C (p.Gln253Pro) | |
X | g.153870422G>A | CA415133113 | L1CAM | c.772C>T (p.Gln258Ter) c.757C>T (p.Gln253Ter) | |
X | g.153870422G>C | CA415133114 | L1CAM | c.772C>G (p.Gln258Glu) c.757C>G (p.Gln253Glu) | dbSNP |
X | g.153870422G= | CA2466507155 | L1CAM | c.772C= (p.Gln258=) c.757C= (p.Gln253=) | |
X | g.153870422G>T | CA415133116 | L1CAM | c.772C>A (p.Gln258Lys) c.757C>A (p.Gln253Lys) | |
X | g.153870423C>A | CA10554508 | L1CAM | c.771G>T (p.Gly257=) c.756G>T (p.Gly252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870423C= | CA2466507156 | L1CAM | c.771G= (p.Gly257=) c.756G= (p.Gly252=) | |
X | g.153870423C>G | CA519208906 | L1CAM | c.771G>C (p.Gly257=) c.756G>C (p.Gly252=) | |
X | g.153870423C>T | CA519208911 | L1CAM | c.771G>A (p.Gly257=) c.756G>A (p.Gly252=) | dbSNP gnomAD v4 |
X | g.153870424C>A | CA415133127 | L1CAM | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) | COSMIC |
X | g.153870424C>G | CA415133124 | L1CAM | c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) | |
X | g.153870424C>T | CA415133122 | L1CAM | c.770G>A (p.Gly257Glu) c.755G>A (p.Gly252Glu) | |
X | g.153870425C>A | CA415133129 | L1CAM | c.769G>T (p.Gly257Trp) c.754G>T (p.Gly252Trp) | |
X | g.153870425C>G | CA415133132 | L1CAM | c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) | |
X | g.153870425C>T | CA415133135 | L1CAM | c.769G>A (p.Gly257Arg) c.754G>A (p.Gly252Arg) | ClinVar dbSNP gnomAD v4 |
X | g.153870426C>A | CA415133136 | L1CAM | c.768G>T (p.Gln256His) c.753G>T (p.Gln251His) | |
X | g.153870426C>G | CA415133138 | L1CAM | c.768G>C (p.Gln256His) c.753G>C (p.Gln251His) | |
X | g.153870426C>T | CA519208931 | L1CAM | c.768G>A (p.Gln256=) c.753G>A (p.Gln251=) | |
X | g.153870426_153870427del | CA2579733004 | L1CAM | c.767_768del (p.Gln256ArgfsTer?) c.752_753del (p.Gln251ArgfsTer?) | |
X | g.153870427T>A | CA415133140 | L1CAM | c.767A>T (p.Gln256Leu) c.752A>T (p.Gln251Leu) | |
X | g.153870427T>C | CA415133142 | L1CAM | c.767A>G (p.Gln256Arg) c.752A>G (p.Gln251Arg) | |
X | g.153870427T>G | CA415133144 | L1CAM | c.767A>C (p.Gln256Pro) c.752A>C (p.Gln251Pro) | |
X | g.153870428G>A | CA415133148 | L1CAM | c.766C>T (p.Gln256Ter) c.751C>T (p.Gln251Ter) | |
X | g.153870428G>C | CA415133150 | L1CAM | c.766C>G (p.Gln256Glu) c.751C>G (p.Gln251Glu) | |
X | g.153870428G>T | CA415133151 | L1CAM | c.766C>A (p.Gln256Lys) c.751C>A (p.Gln251Lys) | |
X | g.153870429del | CA2579733005 | L1CAM | c.765del (p.Leu255PhefsTer?) c.750del (p.Leu250PhefsTer?) | |
X | g.153870429C>A | CA415133164 | L1CAM | c.765G>T (p.Leu255Phe) c.750G>T (p.Leu250Phe) | |
X | g.153870429C= | CA2466507157 | L1CAM | c.765G= (p.Leu255=) c.750G= (p.Leu250=) | |
X | g.153870429C>G | CA415133165 | L1CAM | c.765G>C (p.Leu255Phe) c.750G>C (p.Leu250Phe) | |
X | g.153870429C>T | CA10554509 | L1CAM | c.765G>A (p.Leu255=) c.750G>A (p.Leu250=) | dbSNP ExAC gnomAD v2 |