Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209632592G>A | CA1375843 | LAMB3 | c.813C>T (p.Thr271=) c.621C>T (p.Thr207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632592G>C | CA1375844 | LAMB3 | c.813C>G (p.Thr271=) c.621C>G (p.Thr207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632592G= | CA1142132051 | LAMB3 | c.813C= (p.Thr271=) c.621C= (p.Thr207=) | |
1 | g.209632592G>T | CA423032585 | LAMB3 | c.813C>A (p.Thr271=) c.621C>A (p.Thr207=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632593G>A | CA344594035 | LAMB3 | c.812C>T (p.Thr271Ile) c.620C>T (p.Thr207Ile) | |
1 | g.209632593G>C | CA344594038 | LAMB3 | c.812C>G (p.Thr271Ser) c.620C>G (p.Thr207Ser) | |
1 | g.209632593G= | CA1141490397 | LAMB3 | c.812C= (p.Thr271=) c.620C= (p.Thr207=) | |
1 | g.209632593G>T | CA1375845 | LAMB3 | c.812C>A (p.Thr271Asn) c.620C>A (p.Thr207Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632594T>A | CA344594043 | LAMB3 | c.811A>T (p.Thr271Ser) c.619A>T (p.Thr207Ser) | |
1 | g.209632594T>C | CA344594045 | LAMB3 | c.811A>G (p.Thr271Ala) c.619A>G (p.Thr207Ala) | ClinVar dbSNP gnomAD v4 |
1 | g.209632594T>G | CA344594047 | LAMB3 | c.811A>C (p.Thr271Pro) c.619A>C (p.Thr207Pro) | gnomAD v4 |
1 | g.209632594T= | CA2484301972 | LAMB3 | c.811A= (p.Thr271=) c.619A= (p.Thr207=) | |
1 | g.209632594_209632595delinsTG | CA2484301973 | LAMB3 | c.810_811delinsCA (p.Ser270=) c.618_619delinsCA (p.Ser206=) | |
1 | g.209632595G>A | CA423032587 | LAMB3 | c.810C>T (p.Ser270=) c.618C>T (p.Ser206=) | COSMIC |
1 | g.209632595G>C | CA423032588 | LAMB3 | c.810C>G (p.Ser270=) c.618C>G (p.Ser206=) | gnomAD v4 |
1 | g.209632595G>T | CA423032589 | LAMB3 | c.810C>A (p.Ser270=) c.618C>A (p.Ser206=) | |
1 | g.209632596del | CA1011769436 | LAMB3 | c.810del (p.Thr271ProfsTer?) c.618del (p.Thr207ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632596G>A | CA344594050 | LAMB3 | c.809C>T (p.Ser270Phe) c.617C>T (p.Ser206Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209632596G>C | CA344594051 | LAMB3 | c.809C>G (p.Ser270Cys) c.617C>G (p.Ser206Cys) | |
1 | g.209632596G= | CA2484301974 | LAMB3 | c.809C= (p.Ser270=) c.617C= (p.Ser206=) | |
1 | g.209632596G>T | CA344594053 | LAMB3 | c.809C>A (p.Ser270Tyr) c.617C>A (p.Ser206Tyr) | |
1 | g.209632597A>C | CA344594056 | LAMB3 | c.808T>G (p.Ser270Ala) c.616T>G (p.Ser206Ala) | |
1 | g.209632597A>G | CA344594058 | LAMB3 | c.808T>C (p.Ser270Pro) c.616T>C (p.Ser206Pro) | |
1 | g.209632597A>T | CA344594060 | LAMB3 | c.808T>A (p.Ser270Thr) c.616T>A (p.Ser206Thr) | |
1 | g.209632598G>A | CA423032590 | LAMB3 | c.807C>T (p.Pro269=) c.615C>T (p.Pro205=) | |
1 | g.209632598G>C | CA423032591 | LAMB3 | c.807C>G (p.Pro269=) c.615C>G (p.Pro205=) | |
1 | g.209632598G>T | CA423032592 | LAMB3 | c.807C>A (p.Pro269=) c.615C>A (p.Pro205=) | |
1 | g.209632600_209632601del | CA2650321950 | LAMB3 | c.806_807del (p.Pro269LeufsTer22) c.614_615del (p.Pro205LeufsTer22) | ClinVar gnomAD v4 |
1 | g.209632599G>A | CA344594063 | LAMB3 | c.806C>T (p.Pro269Leu) c.614C>T (p.Pro205Leu) | gnomAD v4 |
1 | g.209632599G>C | CA344594077 | LAMB3 | c.806C>G (p.Pro269Arg) c.614C>G (p.Pro205Arg) | gnomAD v4 |
1 | g.209632599G>T | CA344594075 | LAMB3 | c.806C>A (p.Pro269His) c.614C>A (p.Pro205His) | |
1 | g.209632600G>A | CA344594082 | LAMB3 | c.805C>T (p.Pro269Ser) c.613C>T (p.Pro205Ser) | gnomAD v4 COSMIC |
1 | g.209632600G>C | CA344594084 | LAMB3 | c.805C>G (p.Pro269Ala) c.613C>G (p.Pro205Ala) | gnomAD v4 |
1 | g.209632600G>T | CA344594086 | LAMB3 | c.805C>A (p.Pro269Thr) c.613C>A (p.Pro205Thr) | |
1 | g.209632601G>A | CA423032594 | LAMB3 | c.804C>T (p.Gly268=) c.612C>T (p.Gly204=) | gnomAD v4 |
1 | g.209632601G>C | CA423032596 | LAMB3 | c.804C>G (p.Gly268=) c.612C>G (p.Gly204=) | |
1 | g.209632601G= | CA2484301975 | LAMB3 | c.804C= (p.Gly268=) c.612C= (p.Gly204=) | |
1 | g.209632601G>T | CA423032593 | LAMB3 | c.804C>A (p.Gly268=) c.612C>A (p.Gly204=) | ClinVar dbSNP gnomAD v4 |
1 | g.209632602C>A | CA344594090 | LAMB3 | c.803G>T (p.Gly268Val) c.611G>T (p.Gly204Val) | gnomAD v4 |
1 | g.209632602C>G | CA344594092 | LAMB3 | c.803G>C (p.Gly268Ala) c.611G>C (p.Gly204Ala) | |
1 | g.209632602C>T | CA344594095 | LAMB3 | c.803G>A (p.Gly268Asp) c.611G>A (p.Gly204Asp) | |
1 | g.209632603C>A | CA344594098 | LAMB3 | c.802G>T (p.Gly268Cys) c.610G>T (p.Gly204Cys) | gnomAD v4 |
1 | g.209632603C>G | CA344594099 | LAMB3 | c.802G>C (p.Gly268Arg) c.610G>C (p.Gly204Arg) | |
1 | g.209632603C>T | CA344594101 | LAMB3 | c.802G>A (p.Gly268Ser) c.610G>A (p.Gly204Ser) | |
1 | g.209632604T>A | CA423032599 | LAMB3 | c.801A>T (p.Ala267=) c.609A>T (p.Ala203=) | |
1 | g.209632604T>C | CA423032600 | LAMB3 | c.801A>G (p.Ala267=) c.609A>G (p.Ala203=) | ClinVar dbSNP |
1 | g.209632604T>G | CA423032601 | LAMB3 | c.801A>C (p.Ala267=) c.609A>C (p.Ala203=) | |
1 | g.209632604T= | CA2484301976 | LAMB3 | c.801A= (p.Ala267=) c.609A= (p.Ala203=) | |
1 | g.209632605G>A | CA344594104 | LAMB3 | c.800C>T (p.Ala267Val) c.608C>T (p.Ala203Val) | gnomAD v4 |
1 | g.209632605G>C | CA344594106 | LAMB3 | c.800C>G (p.Ala267Gly) c.608C>G (p.Ala203Gly) | |
1 | g.209632605G>T | CA344594109 | LAMB3 | c.800C>A (p.Ala267Glu) c.608C>A (p.Ala203Glu) | |
1 | g.209632607_209632612del | CA2650321971 | LAMB3 | c.795_800del (p.Ser266_Ala267del) c.603_608del (p.Ser202_Ala203del) | gnomAD v4 |
1 | g.209632606C>A | CA344594115 | LAMB3 | c.799G>T (p.Ala267Ser) c.607G>T (p.Ala203Ser) | |
1 | g.209632606C>G | CA344594111 | LAMB3 | c.799G>C (p.Ala267Pro) c.607G>C (p.Ala203Pro) | |
1 | g.209632606C>T | CA344594113 | LAMB3 | c.799G>A (p.Ala267Thr) c.607G>A (p.Ala203Thr) | |
1 | g.209632607A= | CA2484301977 | LAMB3 | c.798T= (p.Ser266=) c.606T= (p.Ser202=) | |
1 | g.209632607A>C | CA423032604 | LAMB3 | c.798T>G (p.Ser266=) c.606T>G (p.Ser202=) | |
1 | g.209632607A>G | CA423032605 | LAMB3 | c.798T>C (p.Ser266=) c.606T>C (p.Ser202=) | dbSNP |
1 | g.209632607A>T | CA423032606 | LAMB3 | c.798T>A (p.Ser266=) c.606T>A (p.Ser202=) | |
1 | g.209632608G>A | CA344594118 | LAMB3 | c.797C>T (p.Ser266Phe) c.605C>T (p.Ser202Phe) | COSMIC |
1 | g.209632608G>C | CA344594120 | LAMB3 | c.797C>G (p.Ser266Cys) c.605C>G (p.Ser202Cys) | |
1 | g.209632608G>T | CA344594122 | LAMB3 | c.797C>A (p.Ser266Tyr) c.605C>A (p.Ser202Tyr) | |
1 | g.209632609A>C | CA344594125 | LAMB3 | c.796T>G (p.Ser266Ala) c.604T>G (p.Ser202Ala) | |
1 | g.209632609A>G | CA344594127 | LAMB3 | c.796T>C (p.Ser266Pro) c.604T>C (p.Ser202Pro) | |
1 | g.209632609A>T | CA344594129 | LAMB3 | c.796T>A (p.Ser266Thr) c.604T>A (p.Ser202Thr) | |
1 | g.209632610G>A | CA423032607 | LAMB3 | c.795C>T (p.Ala265=) c.603C>T (p.Ala201=) | ClinVar dbSNP |
1 | g.209632610G>C | CA423032608 | LAMB3 | c.795C>G (p.Ala265=) c.603C>G (p.Ala201=) | |
1 | g.209632610G>T | CA423032609 | LAMB3 | c.795C>A (p.Ala265=) c.603C>A (p.Ala201=) | |
1 | g.209632611G>A | CA344594133 | LAMB3 | c.794C>T (p.Ala265Val) c.602C>T (p.Ala201Val) | gnomAD v4 |
1 | g.209632611G>C | CA344594135 | LAMB3 | c.794C>G (p.Ala265Gly) c.602C>G (p.Ala201Gly) | |
1 | g.209632611G>T | CA344594137 | LAMB3 | c.794C>A (p.Ala265Asp) c.602C>A (p.Ala201Asp) | |
1 | g.209632612C>A | CA344594142 | LAMB3 | c.793G>T (p.Ala265Ser) c.601G>T (p.Ala201Ser) | gnomAD v4 |
1 | g.209632612C= | CA2484301978 | LAMB3 | c.793G= (p.Ala265=) c.601G= (p.Ala201=) | |
1 | g.209632612C>G | CA344594144 | LAMB3 | c.793G>C (p.Ala265Pro) c.601G>C (p.Ala201Pro) | dbSNP gnomAD v4 |
1 | g.209632612C>T | CA344594145 | LAMB3 | c.793G>A (p.Ala265Thr) c.601G>A (p.Ala201Thr) | |
1 | g.209632613C>A | CA36759664 | LAMB3 | c.792G>T (p.Gly264=) c.600G>T (p.Gly200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632613C= | CA2484301979 | LAMB3 | c.792G= (p.Gly264=) c.600G= (p.Gly200=) | |
1 | g.209632613C>G | CA423032610 | LAMB3 | c.792G>C (p.Gly264=) c.600G>C (p.Gly200=) | |
1 | g.209632613C>T | CA423032611 | LAMB3 | c.792G>A (p.Gly264=) c.600G>A (p.Gly200=) | ClinVar dbSNP gnomAD v4 |
1 | g.209632614C>A | CA344594149 | LAMB3 | c.791G>T (p.Gly264Val) c.599G>T (p.Gly200Val) | |
1 | g.209632614C>G | CA344594153 | LAMB3 | c.791G>C (p.Gly264Ala) c.599G>C (p.Gly200Ala) | |
1 | g.209632614C>T | CA344594148 | LAMB3 | c.791G>A (p.Gly264Glu) c.599G>A (p.Gly200Glu) | gnomAD v4 |
1 | g.209632615C>A | CA344594160 | LAMB3 | c.790G>T (p.Gly264Trp) c.598G>T (p.Gly200Trp) | gnomAD v4 |
1 | g.209632615C>G | CA344594155 | LAMB3 | c.790G>C (p.Gly264Arg) c.598G>C (p.Gly200Arg) | |
1 | g.209632615C>T | CA344594157 | LAMB3 | c.790G>A (p.Gly264Arg) c.598G>A (p.Gly200Arg) | |
1 | g.209632616A>C | CA423032612 | LAMB3 | c.789T>G (p.Pro263=) c.597T>G (p.Pro199=) | |
1 | g.209632616A>G | CA423032613 | LAMB3 | c.789T>C (p.Pro263=) c.597T>C (p.Pro199=) | |
1 | g.209632616A>T | CA423032614 | LAMB3 | c.789T>A (p.Pro263=) c.597T>A (p.Pro199=) | |
1 | g.209632617G>A | CA344594162 | LAMB3 | c.788C>T (p.Pro263Leu) c.596C>T (p.Pro199Leu) | |
1 | g.209632617G>C | CA344594164 | LAMB3 | c.788C>G (p.Pro263Arg) c.596C>G (p.Pro199Arg) | gnomAD v4 |
1 | g.209632617G>T | CA344594168 | LAMB3 | c.788C>A (p.Pro263His) c.596C>A (p.Pro199His) | |
1 | g.209632618G>A | CA344594170 | LAMB3 | c.787C>T (p.Pro263Ser) c.595C>T (p.Pro199Ser) | |
1 | g.209632618G>C | CA344594172 | LAMB3 | c.787C>G (p.Pro263Ala) c.595C>G (p.Pro199Ala) | |
1 | g.209632618G>T | CA344594175 | LAMB3 | c.787C>A (p.Pro263Thr) c.595C>A (p.Pro199Thr) | |
1 | g.209632619del | CA2586967987 | LAMB3 | c.786del (p.Lys262AsnfsTer?) c.594del (p.Lys198AsnfsTer?) | |
1 | g.209632619C>A | CA344594178 | LAMB3 | c.786G>T (p.Lys262Asn) c.594G>T (p.Lys198Asn) | |
1 | g.209632619C>G | CA344594180 | LAMB3 | c.786G>C (p.Lys262Asn) c.594G>C (p.Lys198Asn) | |
1 | g.209632619C>T | CA423032615 | LAMB3 | c.786G>A (p.Lys262=) c.594G>A (p.Lys198=) | |
1 | g.209632620T>A | CA344594183 | LAMB3 | c.785A>T (p.Lys262Met) c.593A>T (p.Lys198Met) | |
1 | g.209632620T>C | CA344594185 | LAMB3 | c.785A>G (p.Lys262Arg) c.593A>G (p.Lys198Arg) | |
1 | g.209632620T>G | CA344594187 | LAMB3 | c.785A>C (p.Lys262Thr) c.593A>C (p.Lys198Thr) | |
1 | g.209632621del | CA2650321986 | LAMB3 | c.785del (p.Lys262SerfsTer?) c.593del (p.Lys198SerfsTer?) | gnomAD v4 |
1 | g.209632621T>A | CA344594194 | LAMB3 | c.784A>T (p.Lys262Ter) c.592A>T (p.Lys198Ter) | ClinVar dbSNP |
1 | g.209632621T>C | CA344594190 | LAMB3 | c.784A>G (p.Lys262Glu) c.592A>G (p.Lys198Glu) | |
1 | g.209632621T>G | CA344594192 | LAMB3 | c.784A>C (p.Lys262Gln) c.592A>C (p.Lys198Gln) | |
1 | g.209632621T= | CA2484301980 | LAMB3 | c.784A= (p.Lys262=) c.592A= (p.Lys198=) | |
1 | g.209632621_209632638dup | CA2650321988 | LAMB3 | c.767_784dup (p.Pro261_Lys262insThrAspArgCysAlaPro) c.575_592dup (p.Pro197_Lys198insThrAspArgCysAlaPro) | gnomAD v4 |
1 | g.209632622G>A | CA423032616 | LAMB3 | c.783C>T (p.Pro261=) c.591C>T (p.Pro197=) | |
1 | g.209632622G>C | CA423032617 | LAMB3 | c.783C>G (p.Pro261=) c.591C>G (p.Pro197=) | gnomAD v4 |
1 | g.209632622G>T | CA423032618 | LAMB3 | c.783C>A (p.Pro261=) c.591C>A (p.Pro197=) | ClinVar |
1 | g.209632623G>A | CA344594197 | LAMB3 | c.782C>T (p.Pro261Leu) c.590C>T (p.Pro197Leu) | |
1 | g.209632623G>C | CA344594199 | LAMB3 | c.782C>G (p.Pro261Arg) c.590C>G (p.Pro197Arg) | |
1 | g.209632623G>T | CA344594200 | LAMB3 | c.782C>A (p.Pro261His) c.590C>A (p.Pro197His) | gnomAD v4 |
1 | g.209632624G>A | CA1375847 | LAMB3 | c.781C>T (p.Pro261Ser) c.589C>T (p.Pro197Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632624G>C | CA1375846 | LAMB3 | c.781C>G (p.Pro261Ala) c.589C>G (p.Pro197Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632624G= | CA1145052839 | LAMB3 | c.781C= (p.Pro261=) c.589C= (p.Pro197=) | |
1 | g.209632624G>T | CA344594208 | LAMB3 | c.781C>A (p.Pro261Thr) c.589C>A (p.Pro197Thr) | dbSNP COSMIC |
1 | g.209632625T>A | CA423032619 | LAMB3 | c.780A>T (p.Ala260=) c.588A>T (p.Ala196=) | dbSNP gnomAD v4 |
1 | g.209632625T>C | CA423032620 | LAMB3 | c.780A>G (p.Ala260=) c.588A>G (p.Ala196=) | |
1 | g.209632625T>G | CA423032621 | LAMB3 | c.780A>C (p.Ala260=) c.588A>C (p.Ala196=) | dbSNP |
1 | g.209632625T= | CA2484301981 | LAMB3 | c.780A= (p.Ala260=) c.588A= (p.Ala196=) | |
1 | g.209632626G>A | CA344594211 | LAMB3 | c.779C>T (p.Ala260Val) c.587C>T (p.Ala196Val) | |
1 | g.209632626G>C | CA344594213 | LAMB3 | c.779C>G (p.Ala260Gly) c.587C>G (p.Ala196Gly) | gnomAD v4 |
1 | g.209632626G>T | CA344594219 | LAMB3 | c.779C>A (p.Ala260Glu) c.587C>A (p.Ala196Glu) | |
1 | g.209632627C>A | CA344594222 | LAMB3 | c.778G>T (p.Ala260Ser) c.586G>T (p.Ala196Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632627C= | CA1141311817 | LAMB3 | c.778G= (p.Ala260=) c.586G= (p.Ala196=) | |
1 | g.209632627C>G | CA344594224 | LAMB3 | c.778G>C (p.Ala260Pro) c.586G>C (p.Ala196Pro) | |
1 | g.209632627C>T | CA1375848 | LAMB3 | c.778G>A (p.Ala260Thr) c.586G>A (p.Ala196Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632628G>A | CA1375849 | LAMB3 | c.777C>T (p.Cys259=) c.585C>T (p.Cys195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632628G>C | CA344594232 | LAMB3 | c.777C>G (p.Cys259Trp) c.585C>G (p.Cys195Trp) | |
1 | g.209632628G= | CA1142122122 | LAMB3 | c.777C= (p.Cys259=) c.585C= (p.Cys195=) | |
1 | g.209632628G>T | CA344594230 | LAMB3 | c.777C>A (p.Cys259Ter) c.585C>A (p.Cys195Ter) | |
1 | g.209632629C>A | CA344594247 | LAMB3 | c.776G>T (p.Cys259Phe) c.584G>T (p.Cys195Phe) | |
1 | g.209632629C>G | CA344594253 | LAMB3 | c.776G>C (p.Cys259Ser) c.584G>C (p.Cys195Ser) | |
1 | g.209632629C>T | CA344594256 | LAMB3 | c.776G>A (p.Cys259Tyr) c.584G>A (p.Cys195Tyr) | |
1 | g.209632633_209632639del | CA2650322014 | LAMB3 | c.770_776del (p.Asp257AlafsTer?) c.578_584del (p.Asp193AlafsTer?) | gnomAD v4 |
1 | g.209632630A>C | CA344594258 | LAMB3 | c.775T>G (p.Cys259Gly) c.583T>G (p.Cys195Gly) | |
1 | g.209632630A>G | CA344594260 | LAMB3 | c.775T>C (p.Cys259Arg) c.583T>C (p.Cys195Arg) | |
1 | g.209632630A>T | CA344594262 | LAMB3 | c.775T>A (p.Cys259Ser) c.583T>A (p.Cys195Ser) | |
1 | g.209632631G>A | CA423032622 | LAMB3 | c.774C>T (p.Arg258=) c.582C>T (p.Arg194=) | |
1 | g.209632631G>C | CA423032623 | LAMB3 | c.774C>G (p.Arg258=) c.582C>G (p.Arg194=) | gnomAD v4 |
1 | g.209632631G>T | CA423032624 | LAMB3 | c.774C>A (p.Arg258=) c.582C>A (p.Arg194=) | |
1 | g.209632632C>A | CA344594269 | LAMB3 | c.773G>T (p.Arg258Leu) c.581G>T (p.Arg194Leu) | |
1 | g.209632632C= | CA1147411813 | LAMB3 | c.773G= (p.Arg258=) c.581G= (p.Arg194=) | |
1 | g.209632632C>G | CA344594267 | LAMB3 | c.773G>C (p.Arg258Pro) c.581G>C (p.Arg194Pro) | |
1 | g.209632632C>T | CA1375850 | LAMB3 | c.773G>A (p.Arg258His) c.581G>A (p.Arg194His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632633G>A | CA1375851 | LAMB3 | c.772C>T (p.Arg258Cys) c.580C>T (p.Arg194Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632633G>C | CA344594274 | LAMB3 | c.772C>G (p.Arg258Gly) c.580C>G (p.Arg194Gly) | |
1 | g.209632633G= | CA1142062515 | LAMB3 | c.772C= (p.Arg258=) c.580C= (p.Arg194=) | |
1 | g.209632633G>T | CA344594276 | LAMB3 | c.772C>A (p.Arg258Ser) c.580C>A (p.Arg194Ser) | COSMIC |
1 | g.209632634A= | CA2484301982 | LAMB3 | c.771T= (p.Asp257=) c.579T= (p.Asp193=) | |
1 | g.209632634A>C | CA344594278 | LAMB3 | c.771T>G (p.Asp257Glu) c.579T>G (p.Asp193Glu) | |
1 | g.209632634A>G | CA1375852 | LAMB3 | c.771T>C (p.Asp257=) c.579T>C (p.Asp193=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632634A>T | CA344594281 | LAMB3 | c.771T>A (p.Asp257Glu) c.579T>A (p.Asp193Glu) | |
1 | g.209632635T>A | CA344594284 | LAMB3 | c.770A>T (p.Asp257Val) c.578A>T (p.Asp193Val) | |
1 | g.209632635T>C | CA344594289 | LAMB3 | c.770A>G (p.Asp257Gly) c.578A>G (p.Asp193Gly) | dbSNP gnomAD v4 |
1 | g.209632635T>G | CA344594287 | LAMB3 | c.770A>C (p.Asp257Ala) c.578A>C (p.Asp193Ala) | |
1 | g.209632635T= | CA2484301983 | LAMB3 | c.770A= (p.Asp257=) c.578A= (p.Asp193=) | |
1 | g.209632636C>A | CA344594293 | LAMB3 | c.769G>T (p.Asp257Tyr) c.577G>T (p.Asp193Tyr) | |
1 | g.209632636C>G | CA344594295 | LAMB3 | c.769G>C (p.Asp257His) c.577G>C (p.Asp193His) | |
1 | g.209632636C>T | CA344594298 | LAMB3 | c.769G>A (p.Asp257Asn) c.577G>A (p.Asp193Asn) | gnomAD v4 |
1 | g.209632637A>C | CA423032625 | LAMB3 | c.768T>G (p.Ala256=) c.576T>G (p.Ala192=) | |
1 | g.209632637A>G | CA423032626 | LAMB3 | c.768T>C (p.Ala256=) c.576T>C (p.Ala192=) | |
1 | g.209632637A>T | CA423032627 | LAMB3 | c.768T>A (p.Ala256=) c.576T>A (p.Ala192=) | |
1 | g.209632638G>A | CA344594301 | LAMB3 | c.767C>T (p.Ala256Val) c.575C>T (p.Ala192Val) | |
1 | g.209632638G>C | CA344594303 | LAMB3 | c.767C>G (p.Ala256Gly) c.575C>G (p.Ala192Gly) | dbSNP |
1 | g.209632638G= | CA2484301984 | LAMB3 | c.767C= (p.Ala256=) c.575C= (p.Ala192=) | |
1 | g.209632638G>T | CA344594305 | LAMB3 | c.767C>A (p.Ala256Asp) c.575C>A (p.Ala192Asp) | |
1 | g.209632639C>A | CA344594309 | LAMB3 | c.766G>T (p.Ala256Ser) c.574G>T (p.Ala192Ser) | |
1 | g.209632639C>G | CA344594311 | LAMB3 | c.766G>C (p.Ala256Pro) c.574G>C (p.Ala192Pro) | |
1 | g.209632639C>T | CA344594313 | LAMB3 | c.766G>A (p.Ala256Thr) c.574G>A (p.Ala192Thr) | |
1 | g.209632640A= | CA1149057334 | LAMB3 | c.765T= (p.His255=) c.573T= (p.His191=) | |
1 | g.209632640A>C | CA344594315 | LAMB3 | c.765T>G (p.His255Gln) c.573T>G (p.His191Gln) | |
1 | g.209632640A>G | CA1375853 | LAMB3 | c.765T>C (p.His255=) c.573T>C (p.His191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632640A>T | CA344594320 | LAMB3 | c.765T>A (p.His255Gln) c.573T>A (p.His191Gln) | |
1 | g.209632641T>A | CA344594324 | LAMB3 | c.764A>T (p.His255Leu) c.572A>T (p.His191Leu) | |
1 | g.209632641T>C | CA344594325 | LAMB3 | c.764A>G (p.His255Arg) c.572A>G (p.His191Arg) | |
1 | g.209632641T>G | CA1375854 | LAMB3 | c.764A>C (p.His255Pro) c.572A>C (p.His191Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632641T= | CA2484301985 | LAMB3 | c.764A= (p.His255=) c.572A= (p.His191=) | |
1 | g.209632642G>A | CA344594328 | LAMB3 | c.763C>T (p.His255Tyr) c.571C>T (p.His191Tyr) | |
1 | g.209632642G>C | CA344594334 | LAMB3 | c.763C>G (p.His255Asp) c.571C>G (p.His191Asp) | |
1 | g.209632642G>T | CA344594331 | LAMB3 | c.763C>A (p.His255Asn) c.571C>A (p.His191Asn) | |
1 | g.209632643G>A | CA423032628 | LAMB3 | c.762C>T (p.Gly254=) c.570C>T (p.Gly190=) | ClinVar dbSNP |
1 | g.209632643G>C | CA423032629 | LAMB3 | c.762C>G (p.Gly254=) c.570C>G (p.Gly190=) | |
1 | g.209632643G>T | CA423032630 | LAMB3 | c.762C>A (p.Gly254=) c.570C>A (p.Gly190=) | |
1 | g.209632644C>A | CA344594338 | LAMB3 | c.761G>T (p.Gly254Val) c.569G>T (p.Gly190Val) | |
1 | g.209632644C>G | CA344594343 | LAMB3 | c.761G>C (p.Gly254Ala) c.569G>C (p.Gly190Ala) | |
1 | g.209632644C>T | CA344594340 | LAMB3 | c.761G>A (p.Gly254Asp) c.569G>A (p.Gly190Asp) | |
1 | g.209632645C>A | CA344594348 | LAMB3 | c.760G>T (p.Gly254Cys) c.568G>T (p.Gly190Cys) | |
1 | g.209632645C= | CA2484301986 | LAMB3 | c.760G= (p.Gly254=) c.568G= (p.Gly190=) | |
1 | g.209632645C>G | CA344594349 | LAMB3 | c.760G>C (p.Gly254Arg) c.568G>C (p.Gly190Arg) | |
1 | g.209632645C>T | CA344594352 | LAMB3 | c.760G>A (p.Gly254Ser) c.568G>A (p.Gly190Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632646G>A | CA1375855 | LAMB3 | c.759C>T (p.His253=) c.567C>T (p.His189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632646G>C | CA344594357 | LAMB3 | c.759C>G (p.His253Gln) c.567C>G (p.His189Gln) | |
1 | g.209632646G= | CA2484301987 | LAMB3 | c.759C= (p.His253=) c.567C= (p.His189=) | |
1 | g.209632646G>T | CA344594359 | LAMB3 | c.759C>A (p.His253Gln) c.567C>A (p.His189Gln) | |
1 | g.209632647_209632648del | CA2580061966 | LAMB3 | c.758_759del (p.His253ArgfsTer4) c.566_567del (p.His189ArgfsTer4) | ClinVar |
1 | g.209632647T>A | CA344594367 | LAMB3 | c.758A>T (p.His253Leu) c.566A>T (p.His189Leu) | gnomAD v4 |
1 | g.209632647T>C | CA344594362 | LAMB3 | c.758A>G (p.His253Arg) c.566A>G (p.His189Arg) | ClinVar gnomAD v4 |
1 | g.209632647T>G | CA344594364 | LAMB3 | c.758A>C (p.His253Pro) c.566A>C (p.His189Pro) | |
1 | g.209632648G>A | CA344594371 | LAMB3 | c.757C>T (p.His253Tyr) c.565C>T (p.His189Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632648G>C | CA344594373 | LAMB3 | c.757C>G (p.His253Asp) c.565C>G (p.His189Asp) | |
1 | g.209632648G= | CA2484301988 | LAMB3 | c.757C= (p.His253=) c.565C= (p.His189=) | |
1 | g.209632648G>T | CA344594375 | LAMB3 | c.757C>A (p.His253Asn) c.565C>A (p.His189Asn) | |
1 | g.209632649A= | CA2484301989 | LAMB3 | c.756T= (p.Cys252=) c.564T= (p.Cys188=) | |
1 | g.209632649A>C | CA344594379 | LAMB3 | c.756T>G (p.Cys252Trp) c.564T>G (p.Cys188Trp) | |
1 | g.209632649A>G | CA423032631 | LAMB3 | c.756T>C (p.Cys252=) c.564T>C (p.Cys188=) | dbSNP gnomAD v4 |
1 | g.209632649A>T | CA344594381 | LAMB3 | c.756T>A (p.Cys252Ter) c.564T>A (p.Cys188Ter) | |
1 | g.209632650C>A | CA1375856 | LAMB3 | c.755G>T (p.Cys252Phe) c.563G>T (p.Cys188Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632650C= | CA1148474061 | LAMB3 | c.755G= (p.Cys252=) c.563G= (p.Cys188=) | |
1 | g.209632650C>G | CA344594384 | LAMB3 | c.755G>C (p.Cys252Ser) c.563G>C (p.Cys188Ser) | |
1 | g.209632650C>T | CA344594386 | LAMB3 | c.755G>A (p.Cys252Tyr) c.563G>A (p.Cys188Tyr) | |
1 | g.209632651A>C | CA344594392 | LAMB3 | c.754T>G (p.Cys252Gly) c.562T>G (p.Cys188Gly) | |
1 | g.209632651A>G | CA344594393 | LAMB3 | c.754T>C (p.Cys252Arg) c.562T>C (p.Cys188Arg) | |
1 | g.209632651A>T | CA344594394 | LAMB3 | c.754T>A (p.Cys252Ser) c.562T>A (p.Cys188Ser) | |
1 | g.209632652G>A | CA423032632 | LAMB3 | c.753C>T (p.Phe251=) c.561C>T (p.Phe187=) | ClinVar gnomAD v4 |
1 | g.209632652G>C | CA344594398 | LAMB3 | c.753C>G (p.Phe251Leu) c.561C>G (p.Phe187Leu) | |
1 | g.209632652G>T | CA344594401 | LAMB3 | c.753C>A (p.Phe251Leu) c.561C>A (p.Phe187Leu) | |
1 | g.209632653A>C | CA344594404 | LAMB3 | c.752T>G (p.Phe251Cys) c.560T>G (p.Phe187Cys) | |
1 | g.209632653A>G | CA344594415 | LAMB3 | c.752T>C (p.Phe251Ser) c.560T>C (p.Phe187Ser) | |
1 | g.209632653A>T | CA344594416 | LAMB3 | c.752T>A (p.Phe251Tyr) c.560T>A (p.Phe187Tyr) | |
1 | g.209632654A= | CA2484301990 | LAMB3 | c.751T= (p.Phe251=) c.559T= (p.Phe187=) | |
1 | g.209632654A>C | CA344594417 | LAMB3 | c.751T>G (p.Phe251Val) c.559T>G (p.Phe187Val) | |
1 | g.209632654A>G | CA36759690 | LAMB3 | c.751T>C (p.Phe251Leu) c.559T>C (p.Phe187Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632654A>T | CA344594421 | LAMB3 | c.751T>A (p.Phe251Ile) c.559T>A (p.Phe187Ile) | |
1 | g.209632655G>A | CA423032633 | LAMB3 | c.750C>T (p.Cys250=) c.558C>T (p.Cys186=) | |
1 | g.209632655G>C | CA344594424 | LAMB3 | c.750C>G (p.Cys250Trp) c.558C>G (p.Cys186Trp) | |
1 | g.209632655G>T | CA344594426 | LAMB3 | c.750C>A (p.Cys250Ter) c.558C>A (p.Cys186Ter) | |
1 | g.209632656C>A | CA344594432 | LAMB3 | c.749G>T (p.Cys250Phe) c.557G>T (p.Cys186Phe) | |
1 | g.209632656C>G | CA344594428 | LAMB3 | c.749G>C (p.Cys250Ser) c.557G>C (p.Cys186Ser) | |
1 | g.209632656C>T | CA344594430 | LAMB3 | c.749G>A (p.Cys250Tyr) c.557G>A (p.Cys186Tyr) | |
1 | g.209632657_209632661del | CA2650322072 | LAMB3 | c.745_749del (p.Ser249LeufsTer7) c.553_557del (p.Ser185LeufsTer7) | gnomAD v4 |
1 | g.209632657A>C | CA344594434 | LAMB3 | c.748T>G (p.Cys250Gly) c.556T>G (p.Cys186Gly) | |
1 | g.209632657A>G | CA344594436 | LAMB3 | c.748T>C (p.Cys250Arg) c.556T>C (p.Cys186Arg) | |
1 | g.209632657A>T | CA344594438 | LAMB3 | c.748T>A (p.Cys250Ser) c.556T>A (p.Cys186Ser) | |
1 | g.209632658G>A | CA1375857 | LAMB3 | c.747C>T (p.Ser249=) c.555C>T (p.Ser185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632658G>C | CA344594443 | LAMB3 | c.747C>G (p.Ser249Arg) c.555C>G (p.Ser185Arg) | |
1 | g.209632658G= | CA2484301991 | LAMB3 | c.747C= (p.Ser249=) c.555C= (p.Ser185=) | |
1 | g.209632658G>T | CA344594445 | LAMB3 | c.747C>A (p.Ser249Arg) c.555C>A (p.Ser185Arg) | |
1 | g.209632658_209632659del | CA2650322080 | LAMB3 | c.746_747del (p.Ser249MetfsTer8) c.554_555del (p.Ser185MetfsTer8) | gnomAD v4 |
1 | g.209632659C>A | CA344594453 | LAMB3 | c.746G>T (p.Ser249Ile) c.554G>T (p.Ser185Ile) | |
1 | g.209632659C= | CA2484301992 | LAMB3 | c.746G= (p.Ser249=) c.554G= (p.Ser185=) | |
1 | g.209632659C>G | CA344594448 | LAMB3 | c.746G>C (p.Ser249Thr) c.554G>C (p.Ser185Thr) | |
1 | g.209632659C>T | CA344594450 | LAMB3 | c.746G>A (p.Ser249Asn) c.554G>A (p.Ser185Asn) | dbSNP gnomAD v4 |
1 | g.209632660T>A | CA344594456 | LAMB3 | c.745A>T (p.Ser249Cys) c.553A>T (p.Ser185Cys) | |
1 | g.209632660T>C | CA344594458 | LAMB3 | c.745A>G (p.Ser249Gly) c.553A>G (p.Ser185Gly) | |
1 | g.209632660T>G | CA344594460 | LAMB3 | c.745A>C (p.Ser249Arg) c.553A>C (p.Ser185Arg) | |
1 | g.209632661C>A | CA423032634 | LAMB3 | c.744G>T (p.Gly248=) c.552G>T (p.Gly184=) | |
1 | g.209632661C= | CA2484301993 | LAMB3 | c.744G= (p.Gly248=) c.552G= (p.Gly184=) | |
1 | g.209632661C>G | CA1375859 | LAMB3 | c.744G>C (p.Gly248=) c.552G>C (p.Gly184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632661C>T | CA1375858 | LAMB3 | c.744G>A (p.Gly248=) c.552G>A (p.Gly184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632662C>A | CA344594467 | LAMB3 | c.743G>T (p.Gly248Val) c.551G>T (p.Gly184Val) | |
1 | g.209632662C>G | CA344594471 | LAMB3 | c.743G>C (p.Gly248Ala) c.551G>C (p.Gly184Ala) | |
1 | g.209632662C>T | CA344594469 | LAMB3 | c.743G>A (p.Gly248Glu) c.551G>A (p.Gly184Glu) | |
1 | g.209632663C>A | CA344594475 | LAMB3 | c.742G>T (p.Gly248Trp) c.550G>T (p.Gly184Trp) | |
1 | g.209632663C>G | CA344594476 | LAMB3 | c.742G>C (p.Gly248Arg) c.550G>C (p.Gly184Arg) | gnomAD v4 |
1 | g.209632663C>T | CA344594479 | LAMB3 | c.742G>A (p.Gly248Arg) c.550G>A (p.Gly184Arg) | |
1 | g.209632664C>A | CA344594482 | LAMB3 | c.741G>T (p.Gln247His) c.549G>T (p.Gln183His) | dbSNP |
1 | g.209632664C= | CA2484301994 | LAMB3 | c.741G= (p.Gln247=) c.549G= (p.Gln183=) | |
1 | g.209632664C>G | CA344594484 | LAMB3 | c.741G>C (p.Gln247His) c.549G>C (p.Gln183His) | gnomAD v4 |
1 | g.209632664C>T | CA423032635 | LAMB3 | c.741G>A (p.Gln247=) c.549G>A (p.Gln183=) | ClinVar |
1 | g.209632665T>A | CA344594486 | LAMB3 | c.740A>T (p.Gln247Leu) c.548A>T (p.Gln183Leu) | gnomAD v4 |
1 | g.209632665T>C | CA344594488 | LAMB3 | c.740A>G (p.Gln247Arg) c.548A>G (p.Gln183Arg) | |
1 | g.209632665T>G | CA344594490 | LAMB3 | c.740A>C (p.Gln247Pro) c.548A>C (p.Gln183Pro) | |
1 | g.209632666G>A | CA344594492 | LAMB3 | c.739C>T (p.Gln247Ter) c.547C>T (p.Gln183Ter) | gnomAD v4 |
1 | g.209632666G>C | CA344594494 | LAMB3 | c.739C>G (p.Gln247Glu) c.547C>G (p.Gln183Glu) | |
1 | g.209632666G>T | CA344594497 | LAMB3 | c.739C>A (p.Gln247Lys) c.547C>A (p.Gln183Lys) | |
1 | g.209632667C>A | CA423032636 | LAMB3 | c.738G>T (p.Leu246=) c.546G>T (p.Leu182=) | |
1 | g.209632667C>G | CA423032637 | LAMB3 | c.738G>C (p.Leu246=) c.546G>C (p.Leu182=) | |
1 | g.209632667C>T | CA423032638 | LAMB3 | c.738G>A (p.Leu246=) c.546G>A (p.Leu182=) | gnomAD v4 |
1 | g.209632668A>C | CA344594500 | LAMB3 | c.737T>G (p.Leu246Arg) c.545T>G (p.Leu182Arg) | |
1 | g.209632668A>G | CA344594504 | LAMB3 | c.737T>C (p.Leu246Pro) c.545T>C (p.Leu182Pro) | |
1 | g.209632668A>T | CA344594502 | LAMB3 | c.737T>A (p.Leu246Gln) c.545T>A (p.Leu182Gln) | |
1 | g.209632669G>A | CA423032639 | LAMB3 | c.736C>T (p.Leu246=) c.544C>T (p.Leu182=) | |
1 | g.209632669G>C | CA344594507 | LAMB3 | c.736C>G (p.Leu246Val) c.544C>G (p.Leu182Val) | gnomAD v4 |
1 | g.209632669G>T | CA344594509 | LAMB3 | c.736C>A (p.Leu246Met) c.544C>A (p.Leu182Met) | |
1 | g.209632670A>C | CA423032640 | LAMB3 | c.735T>G (p.Arg245=) c.543T>G (p.Arg181=) | |
1 | g.209632670A>G | CA423032641 | LAMB3 | c.735T>C (p.Arg245=) c.543T>C (p.Arg181=) | |
1 | g.209632670A>T | CA423032642 | LAMB3 | c.735T>A (p.Arg245=) c.543T>A (p.Arg181=) | |
1 | g.209632671C>A | CA344594512 | LAMB3 | c.734G>T (p.Arg245Leu) c.542G>T (p.Arg181Leu) | |
1 | g.209632671C= | CA1141431189 | LAMB3 | c.734G= (p.Arg245=) c.542G= (p.Arg181=) | |
1 | g.209632671C>G | CA344594514 | LAMB3 | c.734G>C (p.Arg245Pro) c.542G>C (p.Arg181Pro) | |
1 | g.209632671C>T | CA1375860 | LAMB3 | c.734G>A (p.Arg245His) c.542G>A (p.Arg181His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209632672G>A | CA1375861 | LAMB3 | c.733C>T (p.Arg245Cys) c.541C>T (p.Arg181Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632672G>C | CA344594520 | LAMB3 | c.733C>G (p.Arg245Gly) c.541C>G (p.Arg181Gly) | dbSNP gnomAD v4 |
1 | g.209632672G= | CA2484301995 | LAMB3 | c.733C= (p.Arg245=) c.541C= (p.Arg181=) | |
1 | g.209632672G>T | CA344594523 | LAMB3 | c.733C>A (p.Arg245Ser) c.541C>A (p.Arg181Ser) | |
1 | g.209632673G>A | CA423032643 | LAMB3 | c.732C>T (p.Leu244=) c.540C>T (p.Leu180=) | |
1 | g.209632673G>C | CA423032645 | LAMB3 | c.732C>G (p.Leu244=) c.540C>G (p.Leu180=) | |
1 | g.209632673G>T | CA423032644 | LAMB3 | c.732C>A (p.Leu244=) c.540C>A (p.Leu180=) | |
1 | g.209632674A>C | CA344594527 | LAMB3 | c.731T>G (p.Leu244Arg) c.539T>G (p.Leu180Arg) | |
1 | g.209632674A>G | CA344594529 | LAMB3 | c.731T>C (p.Leu244Pro) c.539T>C (p.Leu180Pro) | |
1 | g.209632674A>T | CA344594531 | LAMB3 | c.731T>A (p.Leu244His) c.539T>A (p.Leu180His) | |
1 | g.209632675G>A | CA1375862 | LAMB3 | c.730C>T (p.Leu244Phe) c.538C>T (p.Leu180Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632675G>C | CA344594536 | LAMB3 | c.730C>G (p.Leu244Val) c.538C>G (p.Leu180Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632675G= | CA2484301996 | LAMB3 | c.730C= (p.Leu244=) c.538C= (p.Leu180=) | |
1 | g.209632675G>T | CA344594539 | LAMB3 | c.730C>A (p.Leu244Ile) c.538C>A (p.Leu180Ile) | |
1 | g.209632676C>A | CA344594544 | LAMB3 | c.729G>T (p.Gln243His) c.537G>T (p.Gln179His) | |
1 | g.209632676C>G | CA344594541 | LAMB3 | c.729G>C (p.Gln243His) c.537G>C (p.Gln179His) | |
1 | g.209632676C>T | CA423032646 | LAMB3 | c.729G>A (p.Gln243=) c.537G>A (p.Gln179=) | |
1 | g.209632677T>A | CA344594546 | LAMB3 | c.728A>T (p.Gln243Leu) c.536A>T (p.Gln179Leu) | |
1 | g.209632677T>C | CA344594548 | LAMB3 | c.728A>G (p.Gln243Arg) c.536A>G (p.Gln179Arg) | dbSNP |
1 | g.209632677T>G | CA344594552 | LAMB3 | c.728A>C (p.Gln243Pro) c.536A>C (p.Gln179Pro) | |
1 | g.209632677T= | CA2484301997 | LAMB3 | c.728A= (p.Gln243=) c.536A= (p.Gln179=) | |
1 | g.209632678G>A | CA341658 | LAMB3 | c.727C>T (p.Gln243Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209632678G>C | CA344594554 | LAMB3 | c.727C>G (p.Gln243Glu) c.535C>G (p.Gln179Glu) | gnomAD v4 |
1 | g.209632678G= | CA1141188135 | LAMB3 | c.727C= (p.Gln243=) c.535C= (p.Gln179=) | |
1 | g.209632678G>T | CA344594557 | LAMB3 | c.727C>A (p.Gln243Lys) c.535C>A (p.Gln179Lys) | |
1 | g.209632680del | CA2650322127 | LAMB3 | c.727del (p.Gln243SerfsTer?) c.535del (p.Gln179SerfsTer?) | gnomAD v4 |
1 | g.209632679G>A | CA423032647 | LAMB3 | c.726C>T (p.Ser242=) c.534C>T (p.Ser178=) | |
1 | g.209632679G>C | CA423032648 | LAMB3 | c.726C>G (p.Ser242=) c.534C>G (p.Ser178=) | dbSNP gnomAD v4 |
1 | g.209632679G>T | CA423032649 | LAMB3 | c.726C>A (p.Ser242=) c.534C>A (p.Ser178=) | |
1 | g.209632680G>A | CA344594560 | LAMB3 | c.725C>T (p.Ser242Phe) c.533C>T (p.Ser178Phe) | gnomAD v4 |
1 | g.209632680G>C | CA344594562 | LAMB3 | c.725C>G (p.Ser242Cys) c.533C>G (p.Ser178Cys) | |
1 | g.209632680G>T | CA344594564 | LAMB3 | c.725C>A (p.Ser242Tyr) c.533C>A (p.Ser178Tyr) | |
1 | g.209632681A>C | CA344594567 | LAMB3 | c.724T>G (p.Ser242Ala) c.532T>G (p.Ser178Ala) | |
1 | g.209632681A>G | CA344594569 | LAMB3 | c.724T>C (p.Ser242Pro) c.532T>C (p.Ser178Pro) | |
1 | g.209632681A>T | CA344594571 | LAMB3 | c.724T>A (p.Ser242Thr) c.532T>A (p.Ser178Thr) | |
1 | g.209632682C>A | CA423032652 | LAMB3 | c.723G>T (p.Val241=) c.531G>T (p.Val177=) | |
1 | g.209632682C>G | CA423032651 | LAMB3 | c.723G>C (p.Val241=) c.531G>C (p.Val177=) | gnomAD v4 |
1 | g.209632682C>T | CA423032650 | LAMB3 | c.723G>A (p.Val241=) c.531G>A (p.Val177=) | |
1 | g.209632682_209632690delinsCACAGCATA | CA2484301998 | LAMB3 | c.715_723delinsTATGCTGTG (p.Tyr239=) c.523_531delinsTATGCTGTG (p.Tyr175=) | |
1 | g.209632683A>C | CA344594584 | LAMB3 | c.722T>G (p.Val241Gly) c.530T>G (p.Val177Gly) | |
1 | g.209632683A>G | CA344594575 | LAMB3 | c.722T>C (p.Val241Ala) c.530T>C (p.Val177Ala) | gnomAD v4 |
1 | g.209632683A>T | CA344594587 | LAMB3 | c.722T>A (p.Val241Glu) c.530T>A (p.Val177Glu) | |
1 | g.209632683_209632690del | CA1375863 | LAMB3 | c.715_722del (p.Tyr239ValfsTer16) c.523_530del (p.Tyr175ValfsTer16) | dbSNP ExAC gnomAD v2 |
1 | g.209632684C>A | CA344594589 | LAMB3 | c.721G>T (p.Val241Leu) c.529G>T (p.Val177Leu) | |
1 | g.209632684C= | CA2484301999 | LAMB3 | c.721G= (p.Val241=) c.529G= (p.Val177=) | |
1 | g.209632684C>G | CA344594591 | LAMB3 | c.721G>C (p.Val241Leu) c.529G>C (p.Val177Leu) | |
1 | g.209632684C>T | CA1375864 | LAMB3 | c.721G>A (p.Val241Met) c.529G>A (p.Val177Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209632685A>C | CA423032653 | LAMB3 | c.720T>G (p.Ala240=) c.528T>G (p.Ala176=) | |
1 | g.209632685A>G | CA423032654 | LAMB3 | c.720T>C (p.Ala240=) c.528T>C (p.Ala176=) | gnomAD v4 |
1 | g.209632685A>T | CA423032655 | LAMB3 | c.720T>A (p.Ala240=) c.528T>A (p.Ala176=) | |
1 | g.209632686G>A | CA344594597 | LAMB3 | c.719C>T (p.Ala240Val) c.527C>T (p.Ala176Val) | |
1 | g.209632686G>C | CA344594602 | LAMB3 | c.719C>G (p.Ala240Gly) c.527C>G (p.Ala176Gly) | |
1 | g.209632686G>T | CA344594605 | LAMB3 | c.719C>A (p.Ala240Asp) c.527C>A (p.Ala176Asp) | |
1 | g.209632687C>A | CA344594610 | LAMB3 | c.718G>T (p.Ala240Ser) c.526G>T (p.Ala176Ser) | |
1 | g.209632687C>G | CA344594611 | LAMB3 | c.718G>C (p.Ala240Pro) c.526G>C (p.Ala176Pro) | |
1 | g.209632687C>T | CA344594613 | LAMB3 | c.718G>A (p.Ala240Thr) c.526G>A (p.Ala176Thr) | |
1 | g.209632688A>C | CA344594616 | LAMB3 | c.717T>G (p.Tyr239Ter) c.525T>G (p.Tyr175Ter) | |
1 | g.209632688A>G | CA423032656 | LAMB3 | c.717T>C (p.Tyr239=) c.525T>C (p.Tyr175=) | |
1 | g.209632688A>T | CA344594617 | LAMB3 | c.717T>A (p.Tyr239Ter) c.525T>A (p.Tyr175Ter) | |
1 | g.209632689T>A | CA344594625 | LAMB3 | c.716A>T (p.Tyr239Phe) c.524A>T (p.Tyr175Phe) | |
1 | g.209632689T>C | CA344594621 | LAMB3 | c.716A>G (p.Tyr239Cys) c.524A>G (p.Tyr175Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209632689T>G | CA344594623 | LAMB3 | c.716A>C (p.Tyr239Ser) c.524A>C (p.Tyr175Ser) | |
1 | g.209632689T= | CA2484302000 | LAMB3 | c.716A= (p.Tyr239=) c.524A= (p.Tyr175=) | |
1 | g.209632690A>C | CA344594628 | LAMB3 | c.715T>G (p.Tyr239Asp) c.523T>G (p.Tyr175Asp) | |
1 | g.209632690A>G | CA344594631 | LAMB3 | c.715T>C (p.Tyr239His) c.523T>C (p.Tyr175His) | |
1 | g.209632690A>T | CA344594634 | LAMB3 | c.715T>A (p.Tyr239Asn) c.523T>A (p.Tyr175Asn) | |
1 | g.209632691G>A | CA423032657 | LAMB3 | c.714C>T (p.Tyr238=) c.522C>T (p.Tyr174=) | |
1 | g.209632691G>C | CA344594638 | LAMB3 | c.714C>G (p.Tyr238Ter) c.522C>G (p.Tyr174Ter) | |
1 | g.209632691G= | CA2484302001 | LAMB3 | c.714C= (p.Tyr238=) c.522C= (p.Tyr174=) | |
1 | g.209632691G>T | CA344594640 | LAMB3 | c.714C>A (p.Tyr238Ter) c.522C>A (p.Tyr174Ter) | ClinVar dbSNP |
1 | g.209632692T>A | CA344594641 | LAMB3 | c.713A>T (p.Tyr238Phe) c.521A>T (p.Tyr174Phe) | |
1 | g.209632692T>C | CA344594643 | LAMB3 | c.713A>G (p.Tyr238Cys) c.521A>G (p.Tyr174Cys) | |
1 | g.209632692T>G | CA344594646 | LAMB3 | c.713A>C (p.Tyr238Ser) c.521A>C (p.Tyr174Ser) | gnomAD v4 |