X | g.120469014C>A | CA2694598785 | LAMP2 | c.64+92G>T (n.64+92G>T)
| gnomAD v4 |
X | g.120469015C>T | CA2694598786 | LAMP2 | c.64+91G>A (n.64+91G>A)
| gnomAD v4 |
X | g.120469016del | CA2694598787 | LAMP2 | c.64+90del (n.64+90del)
| gnomAD v4 |
X | g.120469016T>C | CA2579692266 | LAMP2 | c.64+90A>G (n.64+90A>G)
| gnomAD v4 |
X | g.120469017C>A | CA2694598788 | LAMP2 | c.64+89G>T (n.64+89G>T)
| gnomAD v4 |
X | g.120469017C>T | CA2694598789 | LAMP2 | c.64+89G>A (n.64+89G>A)
| gnomAD v4 |
X | g.120469018C>A | CA2823249960 | LAMP2 | c.64+88G>T (n.64+88G>T)
| |
X | g.120469018C= | CA2454879123 | LAMP2 | c.64+88G= (n.64+88G=)
| |
X | g.120469018C>G | CA870742976 | LAMP2 | c.64+88G>C (n.64+88G>C)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469019C= | CA2454879124 | LAMP2 | c.64+87G= (n.64+87G=)
| |
X | g.120469019C>T | CA2454879125 | LAMP2 | c.64+87G>A (n.64+87G>A)
| dbSNP |
X | g.120469020C>A | CA2694598790 | LAMP2 | c.64+86G>T (n.64+86G>T)
| gnomAD v4 |
X | g.120469020C= | CA2454879126 | LAMP2 | c.64+86G= (n.64+86G=)
| |
X | g.120469020C>G | CA644135655 | LAMP2 | c.64+86G>C (n.64+86G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469020C>T | CA2579692267 | LAMP2 | c.64+86G>A (n.64+86G>A)
| |
X | g.120469021C>A | CA2694598791 | LAMP2 | c.64+85G>T (n.64+85G>T)
| gnomAD v4 |
X | g.120469021C= | CA2454879127 | LAMP2 | c.64+85G= (n.64+85G=)
| |
X | g.120469021C>G | CA870742981 | LAMP2 | c.64+85G>C (n.64+85G>C)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469021C>T | CA2694598792 | LAMP2 | c.64+85G>A (n.64+85G>A)
| dbSNP gnomAD v4 |
X | g.120469021_120469022delinsCT | CA2454879128 | LAMP2 | c.64+84_64+85delinsAG (n.64+84_64+85delinsAG)
| |
X | g.120469022del | CA2454879129 | LAMP2 | c.64+84del (n.64+84del)
| dbSNP |
X | g.120469023C>A | CA2694598793 | LAMP2 | c.64+83G>T (n.64+83G>T)
| gnomAD v4 |
X | g.120469023C= | CA2454879130 | LAMP2 | c.64+83G= (n.64+83G=)
| |
X | g.120469023C>G | CA2454879131 | LAMP2 | c.64+83G>C (n.64+83G>C)
| dbSNP |
X | g.120469024G>T | CA2694598794 | LAMP2 | c.64+82C>A (n.64+82C>A)
| gnomAD v4 |
X | g.120469025G>T | CA2694598795 | LAMP2 | c.64+81C>A (n.64+81C>A)
| gnomAD v4 |
X | g.120469027C>A | CA2694598796 | LAMP2 | c.64+79G>T (n.64+79G>T)
| gnomAD v4 |
X | g.120469030G>T | CA2694598797 | LAMP2 | c.64+76C>A (n.64+76C>A)
| gnomAD v4 |
X | g.120469031T>C | CA335014942 | LAMP2 | c.64+75A>G (n.64+75A>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469031T= | CA2454879132 | LAMP2 | c.64+75A= (n.64+75A=)
| |
X | g.120469037A>G | CA2579692268 | LAMP2 | c.64+69T>C (n.64+69T>C)
| |
X | g.120469037A>T | CA2579692269 | LAMP2 | c.64+69T>A (n.64+69T>A)
| |
X | g.120469038G>C | CA870742985 | LAMP2 | c.64+68C>G (n.64+68C>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469038G= | CA2454879133 | LAMP2 | c.64+68C= (n.64+68C=)
| |
X | g.120469038G>T | CA2579692270 | LAMP2 | c.64+68C>A (n.64+68C>A)
| gnomAD v4 |
X | g.120469039G>T | CA2579692271 | LAMP2 | c.64+67C>A (n.64+67C>A)
| gnomAD v4 |
X | g.120469040T>C | CA870742987 | LAMP2 | c.64+66A>G (n.64+66A>G)
| dbSNP gnomAD v4 |
X | g.120469040T>G | CA2694598798 | LAMP2 | c.64+66A>C (n.64+66A>C)
| gnomAD v4 |
X | g.120469040T= | CA2454879134 | LAMP2 | c.64+66A= (n.64+66A=)
| |
X | g.120469041T>G | CA2579692272 | LAMP2 | c.64+65A>C (n.64+65A>C)
| gnomAD v4 |
X | g.120469045G>T | CA2579692273 | LAMP2 | c.64+61C>A (n.64+61C>A)
| gnomAD v4 |
X | g.120469046C= | CA2454879135 | LAMP2 | c.64+60G= (n.64+60G=)
| |
X | g.120469046C>G | CA644135656 | LAMP2 | c.64+60G>C (n.64+60G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469047T>C | CA2579692274 | LAMP2 | c.64+59A>G (n.64+59A>G)
| |
X | g.120469049T>C | CA2694598799 | LAMP2 | c.64+57A>G (n.64+57A>G)
| gnomAD v4 |
X | g.120469049T>G | CA870742992 | LAMP2 | c.64+57A>C (n.64+57A>C)
| dbSNP |
X | g.120469049T= | CA2454879136 | LAMP2 | c.64+57A= (n.64+57A=)
| |
X | g.120469050G>T | CA2579692275 | LAMP2 | c.64+56C>A (n.64+56C>A)
| |
X | g.120469052A= | CA2454879137 | LAMP2 | c.64+54T= (n.64+54T=)
| |
X | g.120469052A>C | CA2454879138 | LAMP2 | c.64+54T>G (n.64+54T>G)
| dbSNP |
X | g.120469053C>A | CA2454879140 | LAMP2 | c.64+53G>T (n.64+53G>T)
| dbSNP |
X | g.120469053C= | CA2454879139 | LAMP2 | c.64+53G= (n.64+53G=)
| |
X | g.120469053C>T | CA2454879141 | LAMP2 | c.64+53G>A (n.64+53G>A)
| dbSNP |
X | g.120469054T>G | CA335014943 | LAMP2 | c.64+52A>C (n.64+52A>C)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469054T= | CA2454879143 | LAMP2 | c.64+52A= (n.64+52A=)
| |
X | g.120469054_120469064delinsTGGTGCCCCGG | CA2454879142 | LAMP2 | c.64+42_64+52delinsCCGGGGCACCA (n.64+42_64+52delinsCCGGGGCACCA)
| |
X | g.120469056del | CA2579692276 | LAMP2 | c.64+51del (n.64+51del)
| |
X | g.120469056_120469065del | CA335014944 | LAMP2 | c.64+42_64+51del (n.64+42_64+51del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469056G>C | CA2694598800 | LAMP2 | c.64+50C>G (n.64+50C>G)
| gnomAD v4 |
X | g.120469057T>C | CA335014945 | LAMP2 | c.64+49A>G (n.64+49A>G)
| dbSNP gnomAD v4 |
X | g.120469057T= | CA2454879144 | LAMP2 | c.64+49A= (n.64+49A=)
| |
X | g.120469058G>A | CA2694598801 | LAMP2 | c.64+48C>T (n.64+48C>T)
| gnomAD v4 |
X | g.120469059C>T | CA2579692278 | LAMP2 | c.64+47G>A (n.64+47G>A)
| |
X | g.120469062del | CA2579692277 | LAMP2 | c.64+47del (n.64+47del)
| |
X | g.120469060C>A | CA335014946 | LAMP2 | c.64+46G>T (n.64+46G>T)
| dbSNP |
X | g.120469060C= | CA2454879145 | LAMP2 | c.64+46G= (n.64+46G=)
| |
X | g.120469061C>A | CA2544632954 | LAMP2 | c.64+45G>T (n.64+45G>T)
| |
X | g.120469061C>T | CA2694598802 | LAMP2 | c.64+45G>A (n.64+45G>A)
| gnomAD v4 |
X | g.120469062C>G | CA2579692279 | LAMP2 | c.64+44G>C (n.64+44G>C)
| gnomAD v4 |
X | g.120469062C>T | CA2694598803 | LAMP2 | c.64+44G>A (n.64+44G>A)
| gnomAD v4 |
X | g.120469063G>A | CA10505360 | LAMP2 | c.64+43C>T (n.64+43C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469063G>C | CA644135657 | LAMP2 | c.64+43C>G (n.64+43C>G)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.120469063G= | CA2454879146 | LAMP2 | c.64+43C= (n.64+43C=)
| |
X | g.120469063G>T | CA2579692280 | LAMP2 | c.64+43C>A (n.64+43C>A)
| |
X | g.120469064G>A | CA2694598804 | LAMP2 | c.64+42C>T (n.64+42C>T)
| gnomAD v4 |
X | g.120469064G>C | CA10505361 | LAMP2 | c.64+42C>G (n.64+42C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469064G= | CA2454879147 | LAMP2 | c.64+42C= (n.64+42C=)
| |
X | g.120469064G>T | CA2579692281 | LAMP2 | c.64+42C>A (n.64+42C>A)
| gnomAD v4 |
X | g.120469065G= | CA2454879148 | LAMP2 | c.64+41C= (n.64+41C=)
| |
X | g.120469065G>T | CA2454879149 | LAMP2 | c.64+41C>A (n.64+41C>A)
| dbSNP gnomAD v4 |
X | g.120469069A= | CA2454879150 | LAMP2 | c.64+37T= (n.64+37T=)
| |
X | g.120469069A>C | CA335014947 | LAMP2 | c.64+37T>G (n.64+37T>G)
| dbSNP |
X | g.120469069A>G | CA2694598805 | LAMP2 | c.64+37T>C (n.64+37T>C)
| gnomAD v4 |
X | g.120469070G>A | CA2454879152 | LAMP2 | c.64+36C>T (n.64+36C>T)
| dbSNP gnomAD v4 |
X | g.120469070G= | CA2454879151 | LAMP2 | c.64+36C= (n.64+36C=)
| |
X | g.120469070G>T | CA2694598806 | LAMP2 | c.64+36C>A (n.64+36C>A)
| gnomAD v4 |
X | g.120469071G>A | CA870743000 | LAMP2 | c.64+35C>T (n.64+35C>T)
| dbSNP |
X | g.120469071G>C | CA2694598807 | LAMP2 | c.64+35C>G (n.64+35C>G)
| gnomAD v4 |
X | g.120469071G= | CA2454879153 | LAMP2 | c.64+35C= (n.64+35C=)
| |
X | g.120469071G>T | CA2823249972 | LAMP2 | c.64+35C>A (n.64+35C>A)
| |
X | g.120469072C>A | CA644135658 | LAMP2 | c.64+34G>T (n.64+34G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469072C= | CA2454879154 | LAMP2 | c.64+34G= (n.64+34G=)
| |
X | g.120469072C>T | CA10505362 | LAMP2 | c.64+34G>A (n.64+34G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120469073G>A | CA10505363 | LAMP2 | c.64+33C>T (n.64+33C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469073G= | CA2454879155 | LAMP2 | c.64+33C= (n.64+33C=)
| |
X | g.120469073G>T | CA10505364 | LAMP2 | c.64+33C>A (n.64+33C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469074G>A | CA2694598808 | LAMP2 | c.64+32C>T (n.64+32C>T)
| gnomAD v4 |
X | g.120469074G>C | CA2694598809 | LAMP2 | c.64+32C>G (n.64+32C>G)
| gnomAD v4 |
X | g.120469074G>T | CA2694598810 | LAMP2 | c.64+32C>A (n.64+32C>A)
| gnomAD v4 |
X | g.120469076C>A | CA1136820724 | LAMP2 | c.64+30G>T (n.64+30G>T)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469076C= | CA2454879156 | LAMP2 | c.64+30G= (n.64+30G=)
| |
X | g.120469076C>G | CA10505365 | LAMP2 | c.64+30G>C (n.64+30G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120469076C>T | CA2694598811 | LAMP2 | c.64+30G>A (n.64+30G>A)
| gnomAD v4 |
X | g.120469077A= | CA2454879157 | LAMP2 | c.64+29T= (n.64+29T=)
| |
X | g.120469077A>G | CA2579692282 | LAMP2 | c.64+29T>C (n.64+29T>C)
| |
X | g.120469077A>T | CA870743008 | LAMP2 | c.64+29T>A (n.64+29T>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469078G>A | CA2694598812 | LAMP2 | c.64+28C>T (n.64+28C>T)
| gnomAD v4 |
X | g.120469080C= | CA2454879158 | LAMP2 | c.64+26G= (n.64+26G=)
| |
X | g.120469080C>G | CA644135659 | LAMP2 | c.64+26G>C (n.64+26G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469080C>T | CA870743016 | LAMP2 | c.64+26G>A (n.64+26G>A)
| dbSNP |
X | g.120469082A= | CA2454879159 | LAMP2 | c.64+24T= (n.64+24T=)
| |
X | g.120469082A>T | CA10505366 | LAMP2 | c.64+24T>A (n.64+24T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120469083del | CA2579692283 | LAMP2 | c.64+24del (n.64+24del)
| |
X | g.120469084T>C | CA10505367 | LAMP2 | c.64+22A>G (n.64+22A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120469084T>G | CA2694598813 | LAMP2 | c.64+22A>C (n.64+22A>C)
| gnomAD v4 |
X | g.120469084T= | CA2454879160 | LAMP2 | c.64+22A= (n.64+22A=)
| |
X | g.120469085C= | CA2454879161 | LAMP2 | c.64+21G= (n.64+21G=)
| |
X | g.120469085C>T | CA2454879162 | LAMP2 | c.64+21G>A (n.64+21G>A)
| dbSNP |
X | g.120469086G>A | CA2580100259 | LAMP2 | c.64+20C>T (n.64+20C>T)
| ClinVar |
X | g.120469086G>C | CA658799852 | LAMP2 | c.64+20C>G (n.64+20C>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.120469086G= | CA2454879163 | LAMP2 | c.64+20C= (n.64+20C=)
| |
X | g.120469086G>T | CA2694598814 | LAMP2 | c.64+20C>A (n.64+20C>A)
| gnomAD v4 |
X | g.120469087G>A | CA658475694 | LAMP2 | c.64+19C>T (n.64+19C>T)
| COSMIC |
X | g.120469088G>A | CA644135660 | LAMP2 | c.64+18C>T (n.64+18C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.120469088G= | CA2454879164 | LAMP2 | c.64+18C= (n.64+18C=)
| |
X | g.120469090G>A | CA1139667767 | LAMP2 | c.64+16C>T (n.64+16C>T)
| ClinVar dbSNP gnomAD v4 |
X | g.120469090G>C | CA10505368 | LAMP2 | c.64+16C>G (n.64+16C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120469090G= | CA2454879165 | LAMP2 | c.64+16C= (n.64+16C=)
| |
X | g.120469092del | CA2579692284 | LAMP2 | c.64+16del (n.64+16del)
| |
X | g.120469091G>T | CA2580100260 | LAMP2 | c.64+15C>A (n.64+15C>A)
| ClinVar |
X | g.120469092G>A | CA2579692285 | LAMP2 | c.64+14C>T (n.64+14C>T)
| |
X | g.120469092G>T | CA2694598815 | LAMP2 | c.64+14C>A (n.64+14C>A)
| gnomAD v4 |
X | g.120469095del | CA2579692286 | LAMP2 | c.64+13del (n.64+13del)
| |
X | g.120469094C>A | CA2579692287 | LAMP2 | c.64+12G>T (n.64+12G>T)
| |
X | g.120469094C>T | CA2694598816 | LAMP2 | c.64+12G>A (n.64+12G>A)
| gnomAD v4 |
X | g.120469095C>A | CA2510453404 | LAMP2 | c.64+11G>T (n.64+11G>T)
| gnomAD v4 |
X | g.120469095C= | CA2454879166 | LAMP2 | c.64+11G= (n.64+11G=)
| |
X | g.120469095C>G | CA1136820739 | LAMP2 | c.64+11G>C (n.64+11G>C)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.120469096G>A | CA2694598817 | LAMP2 | c.64+10C>T (n.64+10C>T)
| gnomAD v4 |
X | g.120469096G>T | CA2694598818 | LAMP2 | c.64+10C>A (n.64+10C>A)
| gnomAD v4 |
X | g.120469098C>G | CA2694598819 | LAMP2 | c.64+8G>C (n.64+8G>C)
| gnomAD v4 |
X | g.120469100A= | CA2454879167 | LAMP2 | c.64+6T= (n.64+6T=)
| |
X | g.120469100A>G | CA1136820742 | LAMP2 | c.64+6T>C (n.64+6T>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.120469101_120469102delinsCT | CA2454879168 | LAMP2 | c.64+4_64+5delinsAG (n.64+4_64+5delinsAG)
| |
X | g.120469102T>A | CA645616635 | LAMP2 | c.64+4A>T (n.64+4A>T)
| COSMIC COSMIC COSMIC |
X | g.120469102delinsAC | CA658799853 | LAMP2 | c.64+4delinsGT (n.64+4delinsGT)
| ClinVar dbSNP |
X | g.120469104A= | CA2454879169 | LAMP2 | c.64+2T= (n.64+2T=)
| |
X | g.120469104A>C | CA414397788 | LAMP2 | c.64+2T>G (n.64+2T>G)
| |
X | g.120469104A>G | CA414397790 | LAMP2 | c.64+2T>C (n.64+2T>C)
| |
X | g.120469104A>T | CA333707 | LAMP2 | c.64+2T>A (n.64+2T>A)
| ClinVar dbSNP |
X | g.120469105C>A | CA414397802 | LAMP2 | c.64+1G>T (n.64+1G>T)
| dbSNP |
X | g.120469105C= | CA2454879170 | LAMP2 | c.64+1G= (n.64+1G=)
| |
X | g.120469105C>G | CA414397804 | LAMP2 | c.64+1G>C (n.64+1G>C)
| ClinVar dbSNP |
X | g.120469105C>T | CA335014948 | LAMP2 | c.64+1G>A (n.64+1G>A)
| dbSNP |
X | g.120469106C>A | CA414397805 | LAMP2 | c.64G>T (p.Gly22Ter)
| ClinVar dbSNP |
X | g.120469106C>G | CA414397806 | LAMP2 | c.64G>C (p.Gly22Arg)
| |
X | g.120469106C>T | CA414397807 | LAMP2 | c.64G>A (p.Gly22Arg)
| gnomAD v4 |
X | g.120469107C>A | CA518411547 | LAMP2 | c.63G>T (p.Leu21=)
| |
X | g.120469107C>G | CA518411550 | LAMP2 | c.63G>C (p.Leu21=)
| |
X | g.120469107C>T | CA518411552 | LAMP2 | c.63G>A (p.Leu21=)
| COSMIC COSMIC COSMIC |
X | g.120469107_120469108del | CA2579692288 | LAMP2 | c.62_63del (p.Leu21ArgfsTer11)
| |
X | g.120469108A>C | CA414397809 | LAMP2 | c.62T>G (p.Leu21Arg)
| |
X | g.120469108A>G | CA414397811 | LAMP2 | c.62T>C (p.Leu21Pro)
| |
X | g.120469108A>T | CA414397812 | LAMP2 | c.62T>A (p.Leu21Gln)
| |
X | g.120469109G>A | CA518411558 | LAMP2 | c.61C>T (p.Leu21=)
| |
X | g.120469109G>C | CA414397814 | LAMP2 | c.61C>G (p.Leu21Val)
| |
X | g.120469109G>T | CA414397815 | LAMP2 | c.61C>A (p.Leu21Met)
| |
X | g.120469110G>A | CA518411562 | LAMP2 | c.60C>T (p.Val20=)
| |
X | g.120469110G>C | CA10505369 | LAMP2 | c.60C>G (p.Val20=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120469110G= | CA2454879171 | LAMP2 | c.60C= (p.Val20=)
| |
X | g.120469110G>T | CA518411566 | LAMP2 | c.60C>A (p.Val20=)
| gnomAD v4 |
X | g.120469111A= | CA2454879172 | LAMP2 | c.59T= (p.Val20=)
| |
X | g.120469111A>C | CA414397818 | LAMP2 | c.59T>G (p.Val20Gly)
| ClinVar dbSNP |
X | g.120469111A>G | CA414397819 | LAMP2 | c.59T>C (p.Val20Ala)
| gnomAD v4 |
X | g.120469111A>T | CA414397820 | LAMP2 | c.59T>A (p.Val20Asp)
| |
X | g.120469112C>A | CA414397823 | LAMP2 | c.58G>T (p.Val20Phe)
| gnomAD v4 |
X | g.120469112C>G | CA414397821 | LAMP2 | c.58G>C (p.Val20Leu)
| |
X | g.120469112C>T | CA414397822 | LAMP2 | c.58G>A (p.Val20Ile)
| |
X | g.120469113T>A | CA518411577 | LAMP2 | c.57A>T (p.Leu19=)
| |
X | g.120469113T>C | CA10505370 | LAMP2 | c.57A>G (p.Leu19=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120469113T>G | CA518411580 | LAMP2 | c.57A>C (p.Leu19=)
| |
X | g.120469113T= | CA2454879173 | LAMP2 | c.57A= (p.Leu19=)
| |
X | g.120469114A= | CA2454879174 | LAMP2 | c.56T= (p.Leu19=)
| |
X | g.120469114A>C | CA134140 | LAMP2 | c.56T>G (p.Leu19Arg)
| ClinVar dbSNP |
X | g.120469114A>G | CA414397824 | LAMP2 | c.56T>C (p.Leu19Pro)
| |
X | g.120469114A>T | CA414397825 | LAMP2 | c.56T>A (p.Leu19Gln)
| |