| X | g.120469054_120469064delinsTGGTGCCCCGG | CA2454879142 | LAMP2 | c.64+42_64+52delinsCCGGGGCACCA (n.64+42_64+52delinsCCGGGGCACCA)
| |
| X | g.120469056_120469065del | CA335014944 | LAMP2 | c.64+42_64+51del (n.64+42_64+51del)
| dbSNP gnomAD v3 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)
| |
| X | g.120469115G>A | CA518411588 | LAMP2 | c.55C>T (p.Leu19=)
| |
| X | g.120469115G>C | CA414397826 | LAMP2 | c.55C>G (p.Leu19Val)
| gnomAD v4 |
| X | g.120469115G>T | CA414397827 | LAMP2 | c.55C>A (p.Leu19Ile)
| |
| X | g.120469116G>A | CA518411593 | LAMP2 | c.54C>T (p.Cys18=)
| |
| X | g.120469116G>C | CA414397828 | LAMP2 | c.54C>G (p.Cys18Trp)
| |
| X | g.120469116G>T | CA414397829 | LAMP2 | c.54C>A (p.Cys18Ter)
| ClinVar dbSNP |
| X | g.120469117C>A | CA414397830 | LAMP2 | c.53G>T (p.Cys18Phe)
| gnomAD v4 |
| X | g.120469117C= | CA2454879175 | LAMP2 | c.53G= (p.Cys18=)
| |
| X | g.120469117C>G | CA414397831 | LAMP2 | c.53G>C (p.Cys18Ser)
| dbSNP |
| X | g.120469117C>T | CA414397832 | LAMP2 | c.53G>A (p.Cys18Tyr)
| |
| X | g.120469118A>C | CA414397835 | LAMP2 | c.52T>G (p.Cys18Gly)
| |
| X | g.120469118A>G | CA414397834 | LAMP2 | c.52T>C (p.Cys18Arg)
| ClinVar |
| X | g.120469118A>T | CA414397833 | LAMP2 | c.52T>A (p.Cys18Ser)
| |
| X | g.120469120_120469137del | CA2499226342 | LAMP2 | c.35_52del (p.Ser12_Val17del)
| ClinVar dbSNP |
| X | g.120469119G>A | CA518411612 | LAMP2 | c.51C>T (p.Val17=)
| |
| X | g.120469119G>C | CA518411610 | LAMP2 | c.51C>G (p.Val17=)
| |
| X | g.120469119G>T | CA518411607 | LAMP2 | c.51C>A (p.Val17=)
| |
| X | g.120469120A>C | CA414397836 | LAMP2 | c.50T>G (p.Val17Gly)
| |
| X | g.120469120A>G | CA414397838 | LAMP2 | c.50T>C (p.Val17Ala)
| |
| X | g.120469120A>T | CA414397837 | LAMP2 | c.50T>A (p.Val17Asp)
| |
| X | g.120469121C>A | CA10505371 | LAMP2 | c.49G>T (p.Val17Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469121C= | CA2454879176 | LAMP2 | c.49G= (p.Val17=)
| |
| X | g.120469121C>G | CA414397839 | LAMP2 | c.49G>C (p.Val17Leu)
| |
| X | g.120469121C>T | CA10505372 | LAMP2 | c.49G>A (p.Val17Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469122C>A | CA518411624 | LAMP2 | c.48G>T (p.Leu16=)
| |
| X | g.120469122C>G | CA518411625 | LAMP2 | c.48G>C (p.Leu16=)
| |
| X | g.120469122C>T | CA518411627 | LAMP2 | c.48G>A (p.Leu16=)
| |
| X | g.120469123A>C | CA414397840 | LAMP2 | c.47T>G (p.Leu16Arg)
| |
| X | g.120469123A>G | CA414397841 | LAMP2 | c.47T>C (p.Leu16Pro)
| |
| X | g.120469123A>T | CA414397842 | LAMP2 | c.47T>A (p.Leu16Gln)
| |
| X | g.120469124G>A | CA518411633 | LAMP2 | c.46C>T (p.Leu16=)
| ClinVar |
| X | g.120469124G>C | CA414397843 | LAMP2 | c.46C>G (p.Leu16Val)
| |
| X | g.120469124G>T | CA414397845 | LAMP2 | c.46C>A (p.Leu16Met)
| |
| X | g.120469125A= | CA2454879177 | LAMP2 | c.45T= (p.Val15=)
| |
| X | g.120469125A>C | CA518411638 | LAMP2 | c.45T>G (p.Val15=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469125A>G | CA518411642 | LAMP2 | c.45T>C (p.Val15=)
| |
| X | g.120469125A>T | CA518411640 | LAMP2 | c.45T>A (p.Val15=)
| ClinVar |
| X | g.120469126A>C | CA414397847 | LAMP2 | c.44T>G (p.Val15Gly)
| |
| X | g.120469126A>G | CA414397850 | LAMP2 | c.44T>C (p.Val15Ala)
| |
| X | g.120469126A>T | CA414397853 | LAMP2 | c.44T>A (p.Val15Asp)
| |
| X | g.120469127C>A | CA414397859 | LAMP2 | c.43G>T (p.Val15Phe)
| |
| X | g.120469127C>G | CA414397858 | LAMP2 | c.43G>C (p.Val15Leu)
| |
| X | g.120469127C>T | CA414397856 | LAMP2 | c.43G>A (p.Val15Ile)
| |
| X | g.120469127_120469134delinsCGAGCCCT | CA2454879178 | LAMP2 | c.36_43delinsAGGGCTCG (p.Ser12=)
| |
| X | g.120469128G>A | CA176523 | LAMP2 | c.42C>T (p.Leu14=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120469128G>C | CA518411656 | LAMP2 | c.42C>G (p.Leu14=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120469128G= | CA2454879179 | LAMP2 | c.42C= (p.Leu14=)
| |
| X | g.120469128G>T | CA518411659 | LAMP2 | c.42C>A (p.Leu14=)
| |
| X | g.120469134_120469140del | CA870743116 | LAMP2 | c.36_42del (p.Gly13PhefsTer5)
| ClinVar dbSNP |
| X | g.120469129A= | CA2454879180 | LAMP2 | c.41T= (p.Leu14=)
| |
| X | g.120469129A>C | CA414397864 | LAMP2 | c.41T>G (p.Leu14Arg)
| |
| X | g.120469129A>G | CA414397865 | LAMP2 | c.41T>C (p.Leu14Pro)
| dbSNP |
| X | g.120469129A>T | CA414397866 | LAMP2 | c.41T>A (p.Leu14His)
| |
| X | g.120469130G>A | CA414397867 | LAMP2 | c.40C>T (p.Leu14Phe)
| gnomAD v4 |
| X | g.120469130G>C | CA414397868 | LAMP2 | c.40C>G (p.Leu14Val)
| |
| X | g.120469130G>T | CA414397869 | LAMP2 | c.40C>A (p.Leu14Ile)
| COSMIC COSMIC COSMIC |
| X | g.120469131C>A | CA10505373 | LAMP2 | c.39G>T (p.Gly13=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469131C= | CA2454879181 | LAMP2 | c.39G= (p.Gly13=)
| |
| X | g.120469131C>G | CA518411674 | LAMP2 | c.39G>C (p.Gly13=)
| |
| X | g.120469131C>T | CA518411672 | LAMP2 | c.39G>A (p.Gly13=)
| |
| X | g.120469132C>A | CA414397870 | LAMP2 | c.38G>T (p.Gly13Val)
| |
| X | g.120469132C= | CA2454879182 | LAMP2 | c.38G= (p.Gly13=)
| |
| X | g.120469132C>G | CA414397871 | LAMP2 | c.38G>C (p.Gly13Ala)
| |
| X | g.120469132C>T | CA414397872 | LAMP2 | c.38G>A (p.Gly13Glu)
| dbSNP gnomAD v4 |
| X | g.120469133C>A | CA335014949 | LAMP2 | c.37G>T (p.Gly13Trp)
| dbSNP |
| X | g.120469133C= | CA2454879183 | LAMP2 | c.37G= (p.Gly13=)
| |
| X | g.120469133C>G | CA414397878 | LAMP2 | c.37G>C (p.Gly13Arg)
| |
| X | g.120469133C>T | CA414397876 | LAMP2 | c.37G>A (p.Gly13Arg)
| |
| X | g.120469134T>A | CA518411682 | LAMP2 | c.36A>T (p.Ser12=)
| |
| X | g.120469134T>C | CA518411684 | LAMP2 | c.36A>G (p.Ser12=)
| dbSNP gnomAD v4 |
| X | g.120469134T>G | CA518411686 | LAMP2 | c.36A>C (p.Ser12=)
| |
| X | g.120469134T= | CA2454879184 | LAMP2 | c.36A= (p.Ser12=)
| |
| X | g.120469135G>A | CA414397884 | LAMP2 | c.35C>T (p.Ser12Leu)
| COSMIC COSMIC COSMIC |
| X | g.120469135G>C | CA414397888 | LAMP2 | c.35C>G (p.Ser12Ter)
| |
| X | g.120469135G= | CA2454879185 | LAMP2 | c.35C= (p.Ser12=)
| |
| X | g.120469135G>T | CA414397900 | LAMP2 | c.35C>A (p.Ser12Ter)
| |
| X | g.120469137_120469143dup | CA2695235730 | LAMP2 | c.29_35dup (p.Val15ArgfsTer20)
| |
| X | g.120469136A= | CA2454879186 | LAMP2 | c.34T= (p.Ser12=)
| |
| X | g.120469136A>C | CA414397916 | LAMP2 | c.34T>G (p.Ser12Ala)
| dbSNP |
| X | g.120469136A>G | CA10505374 | LAMP2 | c.34T>C (p.Ser12Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120469136A>T | CA335014950 | LAMP2 | c.34T>A (p.Ser12Thr)
| dbSNP |
| X | g.120469136dup | CA1139667768 | LAMP2 | c.34dup (p.Ser12PhefsTer21)
| ClinVar dbSNP |
| X | g.120469137G>A | CA518411704 | LAMP2 | c.33C>T (p.Gly11=)
| gnomAD v4 |
| X | g.120469137G>C | CA518411705 | LAMP2 | c.33C>G (p.Gly11=)
| |
| X | g.120469137G>T | CA518411707 | LAMP2 | c.33C>A (p.Gly11=)
| |
| X | g.120469138C>A | CA176530 | LAMP2 | c.32G>T (p.Gly11Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469138C= | CA2454879187 | LAMP2 | c.32G= (p.Gly11=)
| |
| X | g.120469138C>G | CA335014951 | LAMP2 | c.32G>C (p.Gly11Ala)
| dbSNP |
| X | g.120469138C>T | CA414397933 | LAMP2 | c.32G>A (p.Gly11Asp)
| |
| X | g.120469139C>A | CA414397938 | LAMP2 | c.31G>T (p.Gly11Cys)
| |
| X | g.120469139C>G | CA414397941 | LAMP2 | c.31G>C (p.Gly11Arg)
| |
| X | g.120469139C>T | CA414397945 | LAMP2 | c.31G>A (p.Gly11Ser)
| |
| X | g.120469140C>A | CA518411724 | LAMP2 | c.30G>T (p.Pro10=)
| gnomAD v4 |
| X | g.120469140C= | CA2454879188 | LAMP2 | c.30G= (p.Pro10=)
| |
| X | g.120469140C>G | CA518411719 | LAMP2 | c.30G>C (p.Pro10=)
| ClinVar |
| X | g.120469140C>T | CA335014952 | LAMP2 | c.30G>A (p.Pro10=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469141G>A | CA10505375 | LAMP2 | c.29C>T (p.Pro10Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120469141G>C | CA414397954 | LAMP2 | c.29C>G (p.Pro10Arg)
| |
| X | g.120469141G= | CA2454879189 | LAMP2 | c.29C= (p.Pro10=)
| |
| X | g.120469141G>T | CA414397957 | LAMP2 | c.29C>A (p.Pro10Gln)
| |
| X | g.120469142del | CA2573055088 | LAMP2 | c.29del (p.Pro10ArgfsTer10)
| dbSNP |
| X | g.120469142G>A | CA414397964 | LAMP2 | c.28C>T (p.Pro10Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469142G>C | CA414397969 | LAMP2 | c.28C>G (p.Pro10Ala)
| |
| X | g.120469142G= | CA2454879190 | LAMP2 | c.28C= (p.Pro10=)
| |
| X | g.120469142G>T | CA414397972 | LAMP2 | c.28C>A (p.Pro10Thr)
| |
| X | g.120469143A>C | CA518411736 | LAMP2 | c.27T>G (p.Val9=)
| |
| X | g.120469143A>G | CA518411737 | LAMP2 | c.27T>C (p.Val9=)
| |
| X | g.120469143A>T | CA518411740 | LAMP2 | c.27T>A (p.Val9=)
| |
| X | g.120469144A= | CA2454879191 | LAMP2 | c.26T= (p.Val9=)
| |
| X | g.120469144A>C | CA414397977 | LAMP2 | c.26T>G (p.Val9Gly)
| |
| X | g.120469144A>G | CA335014953 | LAMP2 | c.26T>C (p.Val9Ala)
| dbSNP |
| X | g.120469144A>T | CA414397983 | LAMP2 | c.26T>A (p.Val9Asp)
| |
| X | g.120469145C>A | CA414397988 | LAMP2 | c.25G>T (p.Val9Phe)
| gnomAD v4 |
| X | g.120469145C= | CA2454879192 | LAMP2 | c.25G= (p.Val9=)
| |
| X | g.120469145C>G | CA414397990 | LAMP2 | c.25G>C (p.Val9Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.120469145C>T | CA414397992 | LAMP2 | c.25G>A (p.Val9Ile)
| |
| X | g.120469146C>A | CA518411750 | LAMP2 | c.24G>T (p.Pro8=)
| |
| X | g.120469146C= | CA2454879193 | LAMP2 | c.24G= (p.Pro8=)
| |
| X | g.120469146C>G | CA518411751 | LAMP2 | c.24G>C (p.Pro8=)
| |
| X | g.120469146C>T | CA518411754 | LAMP2 | c.24G>A (p.Pro8=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120469147G>A | CA10583929 | LAMP2 | c.23C>T (p.Pro8Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120469147G>C | CA414398000 | LAMP2 | c.23C>G (p.Pro8Arg)
| ClinVar dbSNP |
| X | g.120469147G= | CA2454879194 | LAMP2 | c.23C= (p.Pro8=)
| |
| X | g.120469147G>T | CA414398004 | LAMP2 | c.23C>A (p.Pro8Gln)
| |
| X | g.120469148G>A | CA414398015 | LAMP2 | c.22C>T (p.Pro8Ser)
| |
| X | g.120469148G>C | CA414398018 | LAMP2 | c.22C>G (p.Pro8Ala)
| |
| X | g.120469148G>T | CA414398010 | LAMP2 | c.22C>A (p.Pro8Thr)
| |
| X | g.120469149G>A | CA518411762 | LAMP2 | c.21C>T (p.Phe7=)
| COSMIC COSMIC COSMIC |
| X | g.120469149G>C | CA414398021 | LAMP2 | c.21C>G (p.Phe7Leu)
| |
| X | g.120469149G= | CA2454879195 | LAMP2 | c.21C= (p.Phe7=)
| |
| X | g.120469149G>T | CA414398025 | LAMP2 | c.21C>A (p.Phe7Leu)
| ClinVar dbSNP |
| X | g.120469150A>C | CA414398026 | LAMP2 | c.20T>G (p.Phe7Cys)
| |
| X | g.120469150A>G | CA414398027 | LAMP2 | c.20T>C (p.Phe7Ser)
| |
| X | g.120469150A>T | CA414398030 | LAMP2 | c.20T>A (p.Phe7Tyr)
| |
| X | g.120469151A>C | CA414398039 | LAMP2 | c.19T>G (p.Phe7Val)
| |
| X | g.120469151A>G | CA414398038 | LAMP2 | c.19T>C (p.Phe7Leu)
| |
| X | g.120469151A>T | CA414398037 | LAMP2 | c.19T>A (p.Phe7Ile)
| |
| X | g.120469152G>A | CA518411775 | LAMP2 | c.18C>T (p.Leu6=)
| |
| X | g.120469152G>C | CA518411777 | LAMP2 | c.18C>G (p.Leu6=)
| |
| X | g.120469152G>T | CA518411779 | LAMP2 | c.18C>A (p.Leu6=)
| |
| X | g.120469153A>C | CA414398041 | LAMP2 | c.17T>G (p.Leu6Arg)
| |
| X | g.120469153A>G | CA414398042 | LAMP2 | c.17T>C (p.Leu6Pro)
| |
| X | g.120469153A>T | CA414398044 | LAMP2 | c.17T>A (p.Leu6His)
| |
| X | g.120469154G>A | CA414398047 | LAMP2 | c.16C>T (p.Leu6Phe)
| gnomAD v4 |
| X | g.120469154G>C | CA414398051 | LAMP2 | c.16C>G (p.Leu6Val)
| |
| X | g.120469154G>T | CA414398054 | LAMP2 | c.16C>A (p.Leu6Ile)
| |
| X | g.120469155G>A | CA518411789 | LAMP2 | c.15C>T (p.Arg5=)
| |
| X | g.120469155G>C | CA518411791 | LAMP2 | c.15C>G (p.Arg5=)
| |
| X | g.120469155G>T | CA518411792 | LAMP2 | c.15C>A (p.Arg5=)
| |
| X | g.120469155_120469156delinsGC | CA2454879196 | LAMP2 | c.14_15delinsGC (p.Arg5=)
| |
| X | g.120469156del | CA870743227 | LAMP2 | c.14del (p.Arg5ProfsTer15)
| ClinVar dbSNP |
| X | g.120469156C>A | CA414398058 | LAMP2 | c.14G>T (p.Arg5Leu)
| ClinVar dbSNP |
| X | g.120469156C= | CA2454879197 | LAMP2 | c.14G= (p.Arg5=)
| |
| X | g.120469156C>G | CA414398064 | LAMP2 | c.14G>C (p.Arg5Pro)
| |
| X | g.120469156C>T | CA414398061 | LAMP2 | c.14G>A (p.Arg5His)
| dbSNP |
| X | g.120469157G>A | CA414398067 | LAMP2 | c.13C>T (p.Arg5Cys)
| ClinVar dbSNP gnomAD v4 |
| X | g.120469157G>C | CA414398069 | LAMP2 | c.13C>G (p.Arg5Gly)
| |
| X | g.120469157G>T | CA414398071 | LAMP2 | c.13C>A (p.Arg5Ser)
| |
| X | g.120469158G>A | CA518411803 | LAMP2 | c.12C>T (p.Phe4=)
| ClinVar |
| X | g.120469158G>C | CA414398075 | LAMP2 | c.12C>G (p.Phe4Leu)
| |
| X | g.120469158G>T | CA414398077 | LAMP2 | c.12C>A (p.Phe4Leu)
| |
| X | g.120469159A>C | CA414398082 | LAMP2 | c.11T>G (p.Phe4Cys)
| |
| X | g.120469159A>G | CA414398084 | LAMP2 | c.11T>C (p.Phe4Ser)
| |
| X | g.120469159A>T | CA414398086 | LAMP2 | c.11T>A (p.Phe4Tyr)
| |
