| 1 | g.209649918_209649919del | CA2650324053 | LAMB3 | c.183+50_183+51del (n.183+50_183+51del)
| gnomAD v4 |
| 1 | g.209649918A= | CA2484309299 | LAMB3 | c.183+46T= (n.183+46T=)
| |
| 1 | g.209649918A>C | CA2484309300 | LAMB3 | c.183+46T>G (n.183+46T>G)
| dbSNP |
| 1 | g.209649919C= | CA2484309301 | LAMB3 | c.183+45G= (n.183+45G=)
| |
| 1 | g.209649919C>T | CA529000337 | LAMB3 | c.183+45G>A (n.183+45G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209649922del | CA2650324056 | LAMB3 | c.183+45del (n.183+45del)
| gnomAD v4 |
| 1 | g.209649920C>A | CA1376078 | LAMB3 | c.183+44G>T (n.183+44G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649920C= | CA1143575824 | LAMB3 | c.183+44G= (n.183+44G=)
| |
| 1 | g.209649920C>T | CA529000338 | LAMB3 | c.183+44G>A (n.183+44G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649921C= | CA1143739075 | LAMB3 | c.183+43G= (n.183+43G=)
| |
| 1 | g.209649921C>T | CA1376079 | LAMB3 | c.183+43G>A (n.183+43G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649922C>A | CA2650324057 | LAMB3 | c.183+42G>T (n.183+42G>T)
| gnomAD v4 |
| 1 | g.209649922C= | CA1143954489 | LAMB3 | c.183+42G= (n.183+42G=)
| |
| 1 | g.209649922C>T | CA1376080 | LAMB3 | c.183+42G>A (n.183+42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649923T>C | CA2484309303 | LAMB3 | c.183+41A>G (n.183+41A>G)
| dbSNP |
| 1 | g.209649923T= | CA2484309302 | LAMB3 | c.183+41A= (n.183+41A=)
| |
| 1 | g.209649924C= | CA2484309304 | LAMB3 | c.183+40G= (n.183+40G=)
| |
| 1 | g.209649924C>T | CA1376081 | LAMB3 | c.183+40G>A (n.183+40G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649926del | CA2573996425 | LAMB3 | c.183+40del (n.183+40del)
| |
| 1 | g.209649925C>G | CA2650324058 | LAMB3 | c.183+39G>C (n.183+39G>C)
| gnomAD v4 |
| 1 | g.209649926C>A | CA2607036602 | LAMB3 | c.183+38G>T (n.183+38G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209649926C>T | CA2650324059 | LAMB3 | c.183+38G>A (n.183+38G>A)
| gnomAD v4 |
| 1 | g.209649927A= | CA2484309305 | LAMB3 | c.183+37T= (n.183+37T=)
| |
| 1 | g.209649927A>C | CA2484309306 | LAMB3 | c.183+37T>G (n.183+37T>G)
| dbSNP |
| 1 | g.209649927A>G | CA2650324060 | LAMB3 | c.183+37T>C (n.183+37T>C)
| gnomAD v4 |
| 1 | g.209649928T>C | CA2484309307 | LAMB3 | c.183+36A>G (n.183+36A>G)
| dbSNP gnomAD v4 |
| 1 | g.209649928T= | CA2484309308 | LAMB3 | c.183+36A= (n.183+36A=)
| |
| 1 | g.209649929C= | CA2484309309 | LAMB3 | c.183+35G= (n.183+35G=)
| |
| 1 | g.209649929C>G | CA2650324061 | LAMB3 | c.183+35G>C (n.183+35G>C)
| gnomAD v4 |
| 1 | g.209649929C>T | CA1376082 | LAMB3 | c.183+35G>A (n.183+35G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209649931del | CA2607036603 | LAMB3 | c.183+35del (n.183+35del)
| gnomAD v3 gnomAD v4 |
| 1 | g.209649930C>T | CA2573996427 | LAMB3 | c.183+34G>A (n.183+34G>A)
| |
| 1 | g.209649931C= | CA2484309310 | LAMB3 | c.183+33G= (n.183+33G=)
| |
| 1 | g.209649931C>T | CA1376083 | LAMB3 | c.183+33G>A (n.183+33G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649932G>A | CA1376084 | LAMB3 | c.183+32C>T (n.183+32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649932G= | CA1143547143 | LAMB3 | c.183+32C= (n.183+32C=)
| |
| 1 | g.209649932G>T | CA2484309311 | LAMB3 | c.183+32C>A (n.183+32C>A)
| dbSNP |
| 1 | g.209649933C>T | CA2607036604 | LAMB3 | c.183+31G>A (n.183+31G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209649937C>A | CA1011772103 | LAMB3 | c.183+27G>T (n.183+27G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209649937C= | CA2484309312 | LAMB3 | c.183+27G= (n.183+27G=)
| |
| 1 | g.209649937C>T | CA2650324062 | LAMB3 | c.183+27G>A (n.183+27G>A)
| gnomAD v4 |
| 1 | g.209649939del | CA2650324063 | LAMB3 | c.183+25del (n.183+25del)
| gnomAD v4 |
| 1 | g.209649939T>C | CA2559028060 | LAMB3 | c.183+25A>G (n.183+25A>G)
| gnomAD v4 |
| 1 | g.209649940C>G | CA2650324064 | LAMB3 | c.183+24G>C (n.183+24G>C)
| gnomAD v4 |
| 1 | g.209649940C>T | CA2573996438 | LAMB3 | c.183+24G>A (n.183+24G>A)
| |
| 1 | g.209649941C>T | CA2650324065 | LAMB3 | c.183+23G>A (n.183+23G>A)
| gnomAD v4 |
| 1 | g.209649942A= | CA2484309313 | LAMB3 | c.183+22T= (n.183+22T=)
| |
| 1 | g.209649942A>G | CA2484309314 | LAMB3 | c.183+22T>C (n.183+22T>C)
| dbSNP gnomAD v4 |
| 1 | g.209649943G= | CA2484309315 | LAMB3 | c.183+21C= (n.183+21C=)
| |
| 1 | g.209649943G>T | CA1376085 | LAMB3 | c.183+21C>A (n.183+21C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209649945C>A | CA2484309317 | LAMB3 | c.183+19G>T (n.183+19G>T)
| dbSNP |
| 1 | g.209649945C= | CA2484309316 | LAMB3 | c.183+19G= (n.183+19G=)
| |
| 1 | g.209649945C>T | CA36731768 | LAMB3 | c.183+19G>A (n.183+19G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209649947T>C | CA2484309318 | LAMB3 | c.183+17A>G (n.183+17A>G)
| dbSNP |
| 1 | g.209649947T= | CA2484309319 | LAMB3 | c.183+17A= (n.183+17A=)
| |
| 1 | g.209649948G>A | CA1376086 | LAMB3 | c.183+16C>T (n.183+16C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209649948G= | CA2484309320 | LAMB3 | c.183+16C= (n.183+16C=)
| |
| 1 | g.209649948G>T | CA2573996446 | LAMB3 | c.183+16C>A (n.183+16C>A)
| |
| 1 | g.209649949G>A | CA529000349 | LAMB3 | c.183+15C>T (n.183+15C>T)
| dbSNP gnomAD v2 |
| 1 | g.209649949G= | CA2484309321 | LAMB3 | c.183+15C= (n.183+15C=)
| |
| 1 | g.209649950G>A | CA1376087 | LAMB3 | c.183+14C>T (n.183+14C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649950G= | CA2484309322 | LAMB3 | c.183+14C= (n.183+14C=)
| |
| 1 | g.209649953G>A | CA2650324066 | LAMB3 | c.183+11C>T (n.183+11C>T)
| gnomAD v4 |
| 1 | g.209649953G>T | CA2650324067 | LAMB3 | c.183+11C>A (n.183+11C>A)
| gnomAD v4 |
| 1 | g.209649954T>A | CA2650324068 | LAMB3 | c.183+10A>T (n.183+10A>T)
| gnomAD v4 |
| 1 | g.209649956G>A | CA1376088 | LAMB3 | c.183+8C>T (n.183+8C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209649956G= | CA2484309323 | LAMB3 | c.183+8C= (n.183+8C=)
| |
| 1 | g.209649957G>A | CA1376089 | LAMB3 | c.183+7C>T (n.183+7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209649957G= | CA2484309324 | LAMB3 | c.183+7C= (n.183+7C=)
| |
| 1 | g.209649957G>T | CA2580061961 | LAMB3 | c.183+7C>A (n.183+7C>A)
| ClinVar |
| 1 | g.209649958G>A | CA529000350 | LAMB3 | c.183+6C>T (n.183+6C>T)
| dbSNP gnomAD v2 |
| 1 | g.209649958G= | CA2484309325 | LAMB3 | c.183+6C= (n.183+6C=)
| |
| 1 | g.209649962A= | CA2484309326 | LAMB3 | c.183+2T= (n.183+2T=)
| |
| 1 | g.209649962A>C | CA344566094 | LAMB3 | c.183+2T>G (n.183+2T>G)
| dbSNP |
| 1 | g.209649962A>G | CA344566095 | LAMB3 | c.183+2T>C (n.183+2T>C)
| ClinVar dbSNP |
| 1 | g.209649962A>T | CA344566096 | LAMB3 | c.183+2T>A (n.183+2T>A)
| |
| 1 | g.209649963C>A | CA344566097 | LAMB3 | c.183+1G>T (n.183+1G>T)
| |
| 1 | g.209649963C>G | CA344566098 | LAMB3 | c.183+1G>C (n.183+1G>C)
| |
| 1 | g.209649963C>T | CA344566099 | LAMB3 | c.183+1G>A (n.183+1G>A)
| ClinVar |
| 1 | g.209649964C>A | CA344566101 | LAMB3 | c.183G>T (p.Glu61Asp)
| |
| 1 | g.209649964C= | CA1148249865 | LAMB3 | c.183G= (p.Glu61=)
| |
| 1 | g.209649964C>G | CA344566100 | LAMB3 | c.183G>C (p.Glu61Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209649964C>T | CA1376090 | LAMB3 | c.183G>A (p.Glu61=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649965T>A | CA344566102 | LAMB3 | c.182A>T (p.Glu61Val)
| |
| 1 | g.209649965T>C | CA344566103 | LAMB3 | c.182A>G (p.Glu61Gly)
| |
| 1 | g.209649965T>G | CA344566104 | LAMB3 | c.182A>C (p.Glu61Ala)
| |
| 1 | g.209649966C>A | CA344566105 | LAMB3 | c.181G>T (p.Glu61Ter)
| dbSNP gnomAD v2 |
| 1 | g.209649966C= | CA2484309327 | LAMB3 | c.181G= (p.Glu61=)
| |
| 1 | g.209649966C>G | CA344566106 | LAMB3 | c.181G>C (p.Glu61Gln)
| COSMIC |
| 1 | g.209649966C>T | CA36731805 | LAMB3 | c.181G>A (p.Glu61Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649967G>A | CA1376091 | LAMB3 | c.180C>T (p.Gly60=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649967G>C | CA423010764 | LAMB3 | c.180C>G (p.Gly60=)
| |
| 1 | g.209649967G= | CA1141393354 | LAMB3 | c.180C= (p.Gly60=)
| |
| 1 | g.209649967G>T | CA423010761 | LAMB3 | c.180C>A (p.Gly60=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209649968C>A | CA344566107 | LAMB3 | c.179G>T (p.Gly60Val)
| |
| 1 | g.209649968C>G | CA344566108 | LAMB3 | c.179G>C (p.Gly60Ala)
| |
| 1 | g.209649968C>T | CA344566109 | LAMB3 | c.179G>A (p.Gly60Asp)
| |
| 1 | g.209649969C>A | CA344566110 | LAMB3 | c.178G>T (p.Gly60Cys)
| |
| 1 | g.209649969C>G | CA344566111 | LAMB3 | c.178G>C (p.Gly60Arg)
| |
| 1 | g.209649969C>T | CA344566112 | LAMB3 | c.178G>A (p.Gly60Ser)
| |
| 1 | g.209649970A= | CA2484309328 | LAMB3 | c.177T= (p.Tyr59=)
| |
| 1 | g.209649970A>C | CA344566113 | LAMB3 | c.177T>G (p.Tyr59Ter)
| |
| 1 | g.209649970A>G | CA423010773 | LAMB3 | c.177T>C (p.Tyr59=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209649970A>T | CA344566114 | LAMB3 | c.177T>A (p.Tyr59Ter)
| |
| 1 | g.209649971T>A | CA344566115 | LAMB3 | c.176A>T (p.Tyr59Phe)
| |
| 1 | g.209649971T>C | CA344566117 | LAMB3 | c.176A>G (p.Tyr59Cys)
| |
| 1 | g.209649971T>G | CA344566116 | LAMB3 | c.176A>C (p.Tyr59Ser)
| |
| 1 | g.209649972A>C | CA344566118 | LAMB3 | c.175T>G (p.Tyr59Asp)
| gnomAD v4 |
| 1 | g.209649972A>G | CA344566119 | LAMB3 | c.175T>C (p.Tyr59His)
| |
| 1 | g.209649972A>T | CA344566120 | LAMB3 | c.175T>A (p.Tyr59Asn)
| |
| 1 | g.209649973C>A | CA344566121 | LAMB3 | c.174G>T (p.Gln58His)
| |
| 1 | g.209649973C= | CA2484309329 | LAMB3 | c.174G= (p.Gln58=)
| |
| 1 | g.209649973C>G | CA344566122 | LAMB3 | c.174G>C (p.Gln58His)
| |
| 1 | g.209649973C>T | CA1376092 | LAMB3 | c.174G>A (p.Gln58=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649974T>A | CA344566123 | LAMB3 | c.173A>T (p.Gln58Leu)
| |
| 1 | g.209649974T>C | CA344566124 | LAMB3 | c.173A>G (p.Gln58Arg)
| gnomAD v4 |
| 1 | g.209649974T>G | CA344566125 | LAMB3 | c.173A>C (p.Gln58Pro)
| |
| 1 | g.209649975G>A | CA344566126 | LAMB3 | c.172C>T (p.Gln58Ter)
| |
| 1 | g.209649975G>C | CA344566127 | LAMB3 | c.172C>G (p.Gln58Glu)
| |
| 1 | g.209649975G>T | CA344566128 | LAMB3 | c.172C>A (p.Gln58Lys)
| gnomAD v4 |
| 1 | g.209649976G>A | CA423010795 | LAMB3 | c.171C>T (p.Thr57=)
| |
| 1 | g.209649976G>C | CA423010797 | LAMB3 | c.171C>G (p.Thr57=)
| |
| 1 | g.209649976G= | CA2484309330 | LAMB3 | c.171C= (p.Thr57=)
| |
| 1 | g.209649976G>T | CA423010799 | LAMB3 | c.171C>A (p.Thr57=)
| ClinVar dbSNP |
| 1 | g.209649977G>A | CA1376093 | LAMB3 | c.170C>T (p.Thr57Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649977G>C | CA344566129 | LAMB3 | c.170C>G (p.Thr57Ser)
| |
| 1 | g.209649977G= | CA1148872316 | LAMB3 | c.170C= (p.Thr57=)
| |
| 1 | g.209649977G>T | CA344566130 | LAMB3 | c.170C>A (p.Thr57Asn)
| gnomAD v4 |
| 1 | g.209649978T>A | CA344566131 | LAMB3 | c.169A>T (p.Thr57Ser)
| |
| 1 | g.209649978T>C | CA344566132 | LAMB3 | c.169A>G (p.Thr57Ala)
| |
| 1 | g.209649978T>G | CA344566133 | LAMB3 | c.169A>C (p.Thr57Pro)
| |
| 1 | g.209649979G>A | CA1376094 | LAMB3 | c.168C>T (p.Cys56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209649979G>C | CA344566134 | LAMB3 | c.168C>G (p.Cys56Trp)
| |
| 1 | g.209649979G= | CA2484309331 | LAMB3 | c.168C= (p.Cys56=)
| |
| 1 | g.209649979G>T | CA344566135 | LAMB3 | c.168C>A (p.Cys56Ter)
| |
| 1 | g.209649980C>A | CA344566136 | LAMB3 | c.167G>T (p.Cys56Phe)
| |
| 1 | g.209649980C>G | CA344566137 | LAMB3 | c.167G>C (p.Cys56Ser)
| |
| 1 | g.209649980C>T | CA344566138 | LAMB3 | c.167G>A (p.Cys56Tyr)
| |
| 1 | g.209649981A>C | CA344566139 | LAMB3 | c.166T>G (p.Cys56Gly)
| |
| 1 | g.209649981A>G | CA344566140 | LAMB3 | c.166T>C (p.Cys56Arg)
| gnomAD v4 |
| 1 | g.209649981A>T | CA344566141 | LAMB3 | c.166T>A (p.Cys56Ser)
| |
| 1 | g.209649981dup | CA2586967994 | LAMB3 | c.166dup (p.Cys56LeufsTer15)
| |
| 1 | g.209649982G>A | CA423010819 | LAMB3 | c.165C>T (p.Tyr55=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209649982G>C | CA344566142 | LAMB3 | c.165C>G (p.Tyr55Ter)
| |
| 1 | g.209649982G= | CA2484309332 | LAMB3 | c.165C= (p.Tyr55=)
| |
| 1 | g.209649982G>T | CA344566143 | LAMB3 | c.165C>A (p.Tyr55Ter)
| |
| 1 | g.209649983T>A | CA344566144 | LAMB3 | c.164A>T (p.Tyr55Phe)
| |
| 1 | g.209649983T>C | CA344566145 | LAMB3 | c.164A>G (p.Tyr55Cys)
| |
| 1 | g.209649983T>G | CA344566146 | LAMB3 | c.164A>C (p.Tyr55Ser)
| |
| 1 | g.209649984A>C | CA344566147 | LAMB3 | c.163T>G (p.Tyr55Asp)
| |
| 1 | g.209649984A>G | CA344566148 | LAMB3 | c.163T>C (p.Tyr55His)
| |
| 1 | g.209649984A>T | CA344566149 | LAMB3 | c.163T>A (p.Tyr55Asn)
| |
| 1 | g.209649985G>A | CA423010831 | LAMB3 | c.162C>T (p.Thr54=)
| |
| 1 | g.209649985G>C | CA423010833 | LAMB3 | c.162C>G (p.Thr54=)
| |
| 1 | g.209649985G>T | CA423010834 | LAMB3 | c.162C>A (p.Thr54=)
| |
| 1 | g.209649986G>A | CA344566152 | LAMB3 | c.161C>T (p.Thr54Ile)
| |
| 1 | g.209649986G>C | CA344566150 | LAMB3 | c.161C>G (p.Thr54Ser)
| |
| 1 | g.209649986G= | CA2484309333 | LAMB3 | c.161C= (p.Thr54=)
| |
| 1 | g.209649986G>T | CA344566151 | LAMB3 | c.161C>A (p.Thr54Asn)
| dbSNP |
| 1 | g.209649987T>A | CA344566153 | LAMB3 | c.160A>T (p.Thr54Ser)
| |
| 1 | g.209649987T>C | CA344566154 | LAMB3 | c.160A>G (p.Thr54Ala)
| |
| 1 | g.209649987T>G | CA344566155 | LAMB3 | c.160A>C (p.Thr54Pro)
| |
| 1 | g.209649988C>A | CA344566156 | LAMB3 | c.159G>T (p.Glu53Asp)
| |
| 1 | g.209649988C= | CA2484309334 | LAMB3 | c.159G= (p.Glu53=)
| |
| 1 | g.209649988C>G | CA344566157 | LAMB3 | c.159G>C (p.Glu53Asp)
| |
| 1 | g.209649988C>T | CA36731817 | LAMB3 | c.159G>A (p.Glu53=)
| dbSNP |
| 1 | g.209649989T>A | CA344566158 | LAMB3 | c.158A>T (p.Glu53Val)
| COSMIC |
| 1 | g.209649989T>C | CA344566160 | LAMB3 | c.158A>G (p.Glu53Gly)
| |
| 1 | g.209649989T>G | CA344566159 | LAMB3 | c.158A>C (p.Glu53Ala)
| |
| 1 | g.209649990C>A | CA344566161 | LAMB3 | c.157G>T (p.Glu53Ter)
| |
| 1 | g.209649990C>G | CA344566162 | LAMB3 | c.157G>C (p.Glu53Gln)
| |
| 1 | g.209649990C>T | CA344566163 | LAMB3 | c.157G>A (p.Glu53Lys)
| |
| 1 | g.209649991A>C | CA423010858 | LAMB3 | c.156T>G (p.Pro52=)
| |
| 1 | g.209649991A>G | CA423010860 | LAMB3 | c.156T>C (p.Pro52=)
| |
| 1 | g.209649991A>T | CA423010862 | LAMB3 | c.156T>A (p.Pro52=)
| |
| 1 | g.209649991_209649992delinsAG | CA2484309335 | LAMB3 | c.155_156delinsCT (p.Pro52=)
| |
| 1 | g.209649992G>A | CA344566164 | LAMB3 | c.155C>T (p.Pro52Leu)
| |
| 1 | g.209649992G>C | CA344566165 | LAMB3 | c.155C>G (p.Pro52Arg)
| |
| 1 | g.209649992G>T | CA344566166 | LAMB3 | c.155C>A (p.Pro52His)
| |
| 1 | g.209649993del | CA2484309336 | LAMB3 | c.155del (p.Pro52LeufsTer13)
| ClinVar dbSNP |
| 1 | g.209649993G>A | CA344566167 | LAMB3 | c.154C>T (p.Pro52Ser)
| |
| 1 | g.209649993G>C | CA344566168 | LAMB3 | c.154C>G (p.Pro52Ala)
| |
| 1 | g.209649993G>T | CA344566169 | LAMB3 | c.154C>A (p.Pro52Thr)
| |
| 1 | g.209649994C>A | CA344566170 | LAMB3 | c.153G>T (p.Lys51Asn)
| |
| 1 | g.209649994C>G | CA344566171 | LAMB3 | c.153G>C (p.Lys51Asn)
| gnomAD v4 |
| 1 | g.209649994C>T | CA423010874 | LAMB3 | c.153G>A (p.Lys51=)
| gnomAD v4 |
| 1 | g.209649995T>A | CA344566172 | LAMB3 | c.152A>T (p.Lys51Met)
| |
| 1 | g.209649995T>C | CA344566174 | LAMB3 | c.152A>G (p.Lys51Arg)
| |
| 1 | g.209649995T>G | CA344566173 | LAMB3 | c.152A>C (p.Lys51Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209649995T= | CA2484309337 | LAMB3 | c.152A= (p.Lys51=)
| |
| 1 | g.209649996T>A | CA344566175 | LAMB3 | c.151A>T (p.Lys51Ter)
| |
| 1 | g.209649996T>C | CA344566177 | LAMB3 | c.151A>G (p.Lys51Glu)
| gnomAD v4 |
| 1 | g.209649996T>G | CA344566176 | LAMB3 | c.151A>C (p.Lys51Gln)
| |
| 1 | g.209649997G>A | CA423010884 | LAMB3 | c.150C>T (p.Thr50=)
| |
| 1 | g.209649997G>C | CA423010886 | LAMB3 | c.150C>G (p.Thr50=)
| |
| 1 | g.209649997G>T | CA423010883 | LAMB3 | c.150C>A (p.Thr50=)
| ClinVar gnomAD v4 |
| 1 | g.209649998G>A | CA344566178 | LAMB3 | c.149C>T (p.Thr50Ile)
| |
| 1 | g.209649998G>C | CA344566180 | LAMB3 | c.149C>G (p.Thr50Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209649998G= | CA2484309338 | LAMB3 | c.149C= (p.Thr50=)
| |
| 1 | g.209649998G>T | CA344566179 | LAMB3 | c.149C>A (p.Thr50Asn)
| |
| 1 | g.209649999T>A | CA344566181 | LAMB3 | c.148A>T (p.Thr50Ser)
| |
| 1 | g.209649999T>C | CA344566182 | LAMB3 | c.148A>G (p.Thr50Ala)
| |
| 1 | g.209649999T>G | CA344566183 | LAMB3 | c.148A>C (p.Thr50Pro)
| |
| 1 | g.209650000C>A | CA423010898 | LAMB3 | c.147G>T (p.Leu49=)
| |
| 1 | g.209650000C>G | CA423010899 | LAMB3 | c.147G>C (p.Leu49=)
| |
| 1 | g.209650000C>T | CA423010901 | LAMB3 | c.147G>A (p.Leu49=)
| |
| 1 | g.209650001A>C | CA344566184 | LAMB3 | c.146T>G (p.Leu49Arg)
| |
| 1 | g.209650001A>G | CA344566185 | LAMB3 | c.146T>C (p.Leu49Pro)
| |
| 1 | g.209650001A>T | CA344566186 | LAMB3 | c.146T>A (p.Leu49Gln)
| |
| 1 | g.209650002G>A | CA423010907 | LAMB3 | c.145C>T (p.Leu49=)
| ClinVar |
| 1 | g.209650002G>C | CA344566187 | LAMB3 | c.145C>G (p.Leu49Val)
| |
| 1 | g.209650002G>T | CA344566188 | LAMB3 | c.145C>A (p.Leu49Met)
| |
| 1 | g.209650003T>A | CA423010916 | LAMB3 | c.144A>T (p.Gly48=)
| |
| 1 | g.209650003T>C | CA423010914 | LAMB3 | c.144A>G (p.Gly48=)
| |
| 1 | g.209650003T>G | CA423010912 | LAMB3 | c.144A>C (p.Gly48=)
| |
| 1 | g.209650004C>A | CA344566189 | LAMB3 | c.143G>T (p.Gly48Val)
| |
| 1 | g.209650004C>G | CA344566190 | LAMB3 | c.143G>C (p.Gly48Ala)
| |
| 1 | g.209650004C>T | CA344566191 | LAMB3 | c.143G>A (p.Gly48Glu)
| |
| 1 | g.209650005C>A | CA344566192 | LAMB3 | c.142G>T (p.Gly48Ter)
| |
| 1 | g.209650005C>G | CA344566193 | LAMB3 | c.142G>C (p.Gly48Arg)
| |
| 1 | g.209650005C>T | CA344566194 | LAMB3 | c.142G>A (p.Gly48Arg)
| gnomAD v4 |
| 1 | g.209650006A>C | CA344566196 | LAMB3 | c.141T>G (p.Cys47Trp)
| |
| 1 | g.209650006A>G | CA423010927 | LAMB3 | c.141T>C (p.Cys47=)
| gnomAD v4 |
| 1 | g.209650006A>T | CA344566195 | LAMB3 | c.141T>A (p.Cys47Ter)
| |
| 1 | g.209650007C>A | CA344566197 | LAMB3 | c.140G>T (p.Cys47Phe)
| |
| 1 | g.209650007C>G | CA344566198 | LAMB3 | c.140G>C (p.Cys47Ser)
| |
| 1 | g.209650007C>T | CA344566199 | LAMB3 | c.140G>A (p.Cys47Tyr)
| |
| 1 | g.209650008A>C | CA344566200 | LAMB3 | c.139T>G (p.Cys47Gly)
| |
| 1 | g.209650008A>G | CA344566201 | LAMB3 | c.139T>C (p.Cys47Arg)
| |
| 1 | g.209650008A>T | CA344566202 | LAMB3 | c.139T>A (p.Cys47Ser)
| |
| 1 | g.209650009G>A | CA1376095 | LAMB3 | c.138C>T (p.Thr46=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209650009G>C | CA423010940 | LAMB3 | c.138C>G (p.Thr46=)
| dbSNP |
| 1 | g.209650009G= | CA1139922141 | LAMB3 | c.138C= (p.Thr46=)
| |
| 1 | g.209650009G>T | CA423010942 | LAMB3 | c.138C>A (p.Thr46=)
| dbSNP |
| 1 | g.209650010G>A | CA344566203 | LAMB3 | c.137C>T (p.Thr46Ile)
| |
| 1 | g.209650010G>C | CA344566204 | LAMB3 | c.137C>G (p.Thr46Ser)
| |
| 1 | g.209650010G>T | CA344566205 | LAMB3 | c.137C>A (p.Thr46Asn)
| |
| 1 | g.209650011T>A | CA344566206 | LAMB3 | c.136A>T (p.Thr46Ser)
| |
| 1 | g.209650011T>C | CA344566207 | LAMB3 | c.136A>G (p.Thr46Ala)
| gnomAD v4 |
| 1 | g.209650011T>G | CA344566208 | LAMB3 | c.136A>C (p.Thr46Pro)
| |
| 1 | g.209650012A= | CA2484309339 | LAMB3 | c.135T= (p.Ser45=)
| |
| 1 | g.209650012A>C | CA423010952 | LAMB3 | c.135T>G (p.Ser45=)
| |
| 1 | g.209650012A>G | CA423010954 | LAMB3 | c.135T>C (p.Ser45=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209650012A>T | CA423010957 | LAMB3 | c.135T>A (p.Ser45=)
| |
| 1 | g.209650013G>A | CA344566209 | LAMB3 | c.134C>T (p.Ser45Phe)
| |
| 1 | g.209650013G>C | CA344566211 | LAMB3 | c.134C>G (p.Ser45Cys)
| dbSNP gnomAD v2 |
| 1 | g.209650013G= | CA2484309340 | LAMB3 | c.134C= (p.Ser45=)
| |
| 1 | g.209650013G>T | CA344566210 | LAMB3 | c.134C>A (p.Ser45Tyr)
| |
| 1 | g.209650014A= | CA2484309341 | LAMB3 | c.133T= (p.Ser45=)
| |
| 1 | g.209650014A>C | CA203919 | LAMB3 | c.133T>G (p.Ser45Ala)
| ClinVar dbSNP |
| 1 | g.209650014A>G | CA344566212 | LAMB3 | c.133T>C (p.Ser45Pro)
| gnomAD v4 |
| 1 | g.209650014A>T | CA344566213 | LAMB3 | c.133T>A (p.Ser45Thr)
| |
| 1 | g.209650015T>A | CA423010967 | LAMB3 | c.132A>T (p.Ser44=)
| |
| 1 | g.209650015T>C | CA36731843 | LAMB3 | c.132A>G (p.Ser44=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.209650015T>G | CA423010970 | LAMB3 | c.132A>C (p.Ser44=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.209650015T= | CA2484309342 | LAMB3 | c.132A= (p.Ser44=)
| |
| 1 | g.209650016G>A | CA344566214 | LAMB3 | c.131C>T (p.Ser44Leu)
| |
| 1 | g.209650016G>C | CA344566215 | LAMB3 | c.131C>G (p.Ser44Ter)
| |
| 1 | g.209650016G>T | CA344566216 | LAMB3 | c.131C>A (p.Ser44Ter)
| |
| 1 | g.209650017A>C | CA344566217 | LAMB3 | c.130T>G (p.Ser44Ala)
| |
| 1 | g.209650017A>G | CA344566218 | LAMB3 | c.130T>C (p.Ser44Pro)
| |
| 1 | g.209650017A>T | CA344566219 | LAMB3 | c.130T>A (p.Ser44Thr)
| |
| 1 | g.209650018A>C | CA423010984 | LAMB3 | c.129T>G (p.Ala43=)
| |
| 1 | g.209650018A>G | CA423010982 | LAMB3 | c.129T>C (p.Ala43=)
| |
| 1 | g.209650018A>T | CA423010981 | LAMB3 | c.129T>A (p.Ala43=)
| |
