Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72105994A>CCA381717091LRRC51,LRTOMT,TOMTc.43A>C (p.Thr15Pro)
c.438-2611A>C (n.438-2611A>C)
c.73-62A>C (n.73-62A>C)
c.142A>C (p.Thr48Pro)
c.84-62A>C (n.84-62A>C)
c.545A>C (p.Asn182Thr)
n.200A>C
c.487-62A>C (n.487-62A>C)
c.367A>C (p.Thr123Pro)
11g.72105994A>GCA381717092LRRC51,LRTOMT,TOMTc.43A>G (p.Thr15Ala)
c.438-2611A>G (n.438-2611A>G)
c.73-62A>G (n.73-62A>G)
c.142A>G (p.Thr48Ala)
c.84-62A>G (n.84-62A>G)
c.545A>G (p.Asn182Ser)
n.200A>G
c.487-62A>G (n.487-62A>G)
c.367A>G (p.Thr123Ala)
11g.72105994A>TCA381717094LRRC51,LRTOMT,TOMTc.43A>T (p.Thr15Ser)
c.438-2611A>T (n.438-2611A>T)
c.73-62A>T (n.73-62A>T)
c.142A>T (p.Thr48Ser)
c.84-62A>T (n.84-62A>T)
c.545A>T (p.Asn182Ile)
n.200A>T
c.487-62A>T (n.487-62A>T)
c.367A>T (p.Thr123Ser)
11g.72105995C>ACA381717095LRRC51,LRTOMT,TOMTc.44C>A (p.Thr15Lys)
c.438-2610C>A (n.438-2610C>A)
c.73-61C>A (n.73-61C>A)
c.143C>A (p.Thr48Lys)
c.84-61C>A (n.84-61C>A)
c.546C>A (p.Asn182Lys)
n.201C>A
c.487-61C>A (n.487-61C>A)
c.368C>A (p.Thr123Lys)
11g.72105995C>GCA381717096LRRC51,LRTOMT,TOMTc.44C>G (p.Thr15Arg)
c.438-2610C>G (n.438-2610C>G)
c.73-61C>G (n.73-61C>G)
c.143C>G (p.Thr48Arg)
c.84-61C>G (n.84-61C>G)
c.546C>G (p.Asn182Lys)
n.201C>G
c.487-61C>G (n.487-61C>G)
c.368C>G (p.Thr123Arg)
11g.72105995C>TCA381717097LRRC51,LRTOMT,TOMTc.44C>T (p.Thr15Ile)
c.438-2610C>T (n.438-2610C>T)
c.73-61C>T (n.73-61C>T)
c.143C>T (p.Thr48Ile)
c.84-61C>T (n.84-61C>T)
c.546C>T (p.Asn182=)
n.201C>T
c.487-61C>T (n.487-61C>T)
c.368C>T (p.Thr123Ile)
11g.72105995_72106025delinsCATTGCTGGTGCGGTACCGGCACTACTTCCGCA1981839856LRRC51,LRTOMT,TOMTc.44_74delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (p.Thr15=)
c.438-2610_438-2580delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (n.438-2610_438-2580delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG)
c.73-61_73-31delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (n.73-61_73-31delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG)
c.143_173delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (p.Thr48=)
c.84-61_84-31delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (n.84-61_84-31delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG)
c.546_576delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (p.Asn182=)
n.201_231delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG
c.487-61_487-31delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (n.487-61_487-31delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG)
c.368_398delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG (p.Thr123=)
11g.72105996A>CCA475864783LRRC51,LRTOMT,TOMTc.45A>C (p.Thr15=)
c.438-2609A>C (n.438-2609A>C)
c.73-60A>C (n.73-60A>C)
c.144A>C (p.Thr48=)
c.84-60A>C (n.84-60A>C)
c.547A>C (p.Ile183Leu)
n.202A>C
c.487-60A>C (n.487-60A>C)
c.369A>C (p.Thr123=)
11g.72105996A>GCA475864784LRRC51,LRTOMT,TOMTc.45A>G (p.Thr15=)
c.438-2609A>G (n.438-2609A>G)
c.73-60A>G (n.73-60A>G)
c.144A>G (p.Thr48=)
c.84-60A>G (n.84-60A>G)
c.547A>G (p.Ile183Val)
n.202A>G
c.487-60A>G (n.487-60A>G)
c.369A>G (p.Thr123=)
 gnomAD v4
11g.72105996A>TCA475864785LRRC51,LRTOMT,TOMTc.45A>T (p.Thr15=)
c.438-2609A>T (n.438-2609A>T)
c.73-60A>T (n.73-60A>T)
c.144A>T (p.Thr48=)
c.84-60A>T (n.84-60A>T)
c.547A>T (p.Ile183Phe)
n.202A>T
c.487-60A>T (n.487-60A>T)
c.369A>T (p.Thr123=)
11g.72106008_72106037dupCA939434508LRRC51,LRTOMT,TOMTc.57_86dup (p.Arg29_Thr30insTyrArgHisTyrPheArgLeuLeuValArg)
c.438-2597_438-2568dup (n.438-2597_438-2568dup)
c.73-48_73-19dup (n.73-48_73-19dup)
c.156_185dup (p.Arg62_Thr63insTyrArgHisTyrPheArgLeuLeuValArg)
c.84-48_84-19dup (n.84-48_84-19dup)
c.559_588dup (p.Ala196_His197insValProAlaLeuLeuProIleAlaGlyAla)
n.214_243dup
c.487-48_487-19dup (n.487-48_487-19dup)
c.381_410dup (p.Arg137_Thr138insTyrArgHisTyrPheArgLeuLeuValArg)
 dbSNP gnomAD v3 gnomAD v4
11g.72106008_72106037delCA600242548LRRC51,LRTOMT,TOMTc.57_86del (p.Tyr20_Arg29del)
c.438-2597_438-2568del (n.438-2597_438-2568del)
c.73-48_73-19del (n.73-48_73-19del)
c.156_185del (p.Tyr53_Arg62del)
c.84-48_84-19del (n.84-48_84-19del)
c.559_588del (p.Val187_Ala196del)
n.214_243del
c.487-48_487-19del (n.487-48_487-19del)
c.381_410del (p.Tyr128_Arg137del)
 dbSNP gnomAD v2 gnomAD v4
11g.72105997T>ACA381717098LRRC51,LRTOMT,TOMTc.46T>A (p.Leu16Met)
c.438-2608T>A (n.438-2608T>A)
c.73-59T>A (n.73-59T>A)
c.145T>A (p.Leu49Met)
c.84-59T>A (n.84-59T>A)
c.548T>A (p.Ile183Asn)
n.203T>A
c.487-59T>A (n.487-59T>A)
c.370T>A (p.Leu124Met)
11g.72105997T>CCA6168568LRRC51,LRTOMT,TOMTc.46T>C (p.Leu16=)
c.438-2608T>C (n.438-2608T>C)
c.73-59T>C (n.73-59T>C)
c.145T>C (p.Leu49=)
c.84-59T>C (n.84-59T>C)
c.548T>C (p.Ile183Thr)
n.203T>C
c.487-59T>C (n.487-59T>C)
c.370T>C (p.Leu124=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72105997T>GCA381717105LRRC51,LRTOMT,TOMTc.46T>G (p.Leu16Val)
c.438-2608T>G (n.438-2608T>G)
c.73-59T>G (n.73-59T>G)
c.145T>G (p.Leu49Val)
c.84-59T>G (n.84-59T>G)
c.548T>G (p.Ile183Ser)
n.203T>G
c.487-59T>G (n.487-59T>G)
c.370T>G (p.Leu124Val)
11g.72105997T=CA1981839857LRRC51,LRTOMT,TOMTc.46T= (p.Leu16=)
c.438-2608T= (n.438-2608T=)
c.73-59T= (n.73-59T=)
c.145T= (p.Leu49=)
c.84-59T= (n.84-59T=)
c.548T= (p.Ile183=)
n.203T=
c.487-59T= (n.487-59T=)
c.370T= (p.Leu124=)
11g.72105998T>ACA381717108LRRC51,LRTOMT,TOMTc.47T>A (p.Leu16Ter)
c.438-2607T>A (n.438-2607T>A)
c.73-58T>A (n.73-58T>A)
c.146T>A (p.Leu49Ter)
c.84-58T>A (n.84-58T>A)
c.549T>A (p.Ile183=)
n.204T>A
c.487-58T>A (n.487-58T>A)
c.371T>A (p.Leu124Ter)
11g.72105998T>CCA381717111LRRC51,LRTOMT,TOMTc.47T>C (p.Leu16Ser)
c.438-2607T>C (n.438-2607T>C)
c.73-58T>C (n.73-58T>C)
c.146T>C (p.Leu49Ser)
c.84-58T>C (n.84-58T>C)
c.549T>C (p.Ile183=)
n.204T>C
c.487-58T>C (n.487-58T>C)
c.371T>C (p.Leu124Ser)
11g.72105998T>GCA381717112LRRC51,LRTOMT,TOMTc.47T>G (p.Leu16Trp)
c.438-2607T>G (n.438-2607T>G)
c.73-58T>G (n.73-58T>G)
c.146T>G (p.Leu49Trp)
c.84-58T>G (n.84-58T>G)
c.549T>G (p.Ile183Met)
n.204T>G
c.487-58T>G (n.487-58T>G)
c.371T>G (p.Leu124Trp)
11g.72105999G>ACA475864786LRRC51,LRTOMT,TOMTc.48G>A (p.Leu16=)
c.438-2606G>A (n.438-2606G>A)
c.73-57G>A (n.73-57G>A)
c.147G>A (p.Leu49=)
c.84-57G>A (n.84-57G>A)
c.550G>A (p.Ala184Thr)
n.205G>A
c.487-57G>A (n.487-57G>A)
c.372G>A (p.Leu124=)
11g.72105999G>CCA381717114LRRC51,LRTOMT,TOMTc.48G>C (p.Leu16Phe)
c.438-2606G>C (n.438-2606G>C)
c.73-57G>C (n.73-57G>C)
c.147G>C (p.Leu49Phe)
c.84-57G>C (n.84-57G>C)
c.550G>C (p.Ala184Pro)
n.205G>C
c.487-57G>C (n.487-57G>C)
c.372G>C (p.Leu124Phe)
11g.72105999G>TCA381717117LRRC51,LRTOMT,TOMTc.48G>T (p.Leu16Phe)
c.438-2606G>T (n.438-2606G>T)
c.73-57G>T (n.73-57G>T)
c.147G>T (p.Leu49Phe)
c.84-57G>T (n.84-57G>T)
c.550G>T (p.Ala184Ser)
n.205G>T
c.487-57G>T (n.487-57G>T)
c.372G>T (p.Leu124Phe)
11g.72106000C>ACA6168569LRRC51,LRTOMT,TOMTc.49C>A (p.Leu17Met)
c.438-2605C>A (n.438-2605C>A)
c.73-56C>A (n.73-56C>A)
c.148C>A (p.Leu50Met)
c.84-56C>A (n.84-56C>A)
c.551C>A (p.Ala184Asp)
n.206C>A
c.487-56C>A (n.487-56C>A)
c.373C>A (p.Leu125Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106000C=CA1981839858LRRC51,LRTOMT,TOMTc.49C= (p.Leu17=)
c.438-2605C= (n.438-2605C=)
c.73-56C= (n.73-56C=)
c.148C= (p.Leu50=)
c.84-56C= (n.84-56C=)
c.551C= (p.Ala184=)
n.206C=
c.487-56C= (n.487-56C=)
c.373C= (p.Leu125=)
11g.72106000C>GCA381717120LRRC51,LRTOMT,TOMTc.49C>G (p.Leu17Val)
c.438-2605C>G (n.438-2605C>G)
c.73-56C>G (n.73-56C>G)
c.148C>G (p.Leu50Val)
c.84-56C>G (n.84-56C>G)
c.551C>G (p.Ala184Gly)
n.206C>G
c.487-56C>G (n.487-56C>G)
c.373C>G (p.Leu125Val)
 dbSNP gnomAD v3 gnomAD v4
11g.72106000C>TCA475864787LRRC51,LRTOMT,TOMTc.49C>T (p.Leu17=)
c.438-2605C>T (n.438-2605C>T)
c.73-56C>T (n.73-56C>T)
c.148C>T (p.Leu50=)
c.84-56C>T (n.84-56C>T)
c.551C>T (p.Ala184Val)
n.206C>T
c.487-56C>T (n.487-56C>T)
c.373C>T (p.Leu125=)
 gnomAD v4
11g.72106001T>ACA381717122LRRC51,LRTOMT,TOMTc.50T>A (p.Leu17Gln)
c.438-2604T>A (n.438-2604T>A)
c.73-55T>A (n.73-55T>A)
c.149T>A (p.Leu50Gln)
c.84-55T>A (n.84-55T>A)
c.552T>A (p.Ala184=)
n.207T>A
c.487-55T>A (n.487-55T>A)
c.374T>A (p.Leu125Gln)
11g.72106001T>CCA381717123LRRC51,LRTOMT,TOMTc.50T>C (p.Leu17Pro)
c.438-2604T>C (n.438-2604T>C)
c.73-55T>C (n.73-55T>C)
c.149T>C (p.Leu50Pro)
c.84-55T>C (n.84-55T>C)
c.552T>C (p.Ala184=)
n.207T>C
c.487-55T>C (n.487-55T>C)
c.374T>C (p.Leu125Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.72106001T>GCA381717129LRRC51,LRTOMT,TOMTc.50T>G (p.Leu17Arg)
c.438-2604T>G (n.438-2604T>G)
c.73-55T>G (n.73-55T>G)
c.149T>G (p.Leu50Arg)
c.84-55T>G (n.84-55T>G)
c.552T>G (p.Ala184=)
n.207T>G
c.487-55T>G (n.487-55T>G)
c.374T>G (p.Leu125Arg)
11g.72106001T=CA1981839859LRRC51,LRTOMT,TOMTc.50T= (p.Leu17=)
c.438-2604T= (n.438-2604T=)
c.73-55T= (n.73-55T=)
c.149T= (p.Leu50=)
c.84-55T= (n.84-55T=)
c.552T= (p.Ala184=)
n.207T=
c.487-55T= (n.487-55T=)
c.374T= (p.Leu125=)
11g.72106002G>ACA475864788LRRC51,LRTOMT,TOMTc.51G>A (p.Leu17=)
c.438-2603G>A (n.438-2603G>A)
c.73-54G>A (n.73-54G>A)
c.150G>A (p.Leu50=)
c.84-54G>A (n.84-54G>A)
c.553G>A (p.Gly185Ser)
n.208G>A
c.487-54G>A (n.487-54G>A)
c.375G>A (p.Leu125=)
11g.72106002G>CCA475864789LRRC51,LRTOMT,TOMTc.51G>C (p.Leu17=)
c.438-2603G>C (n.438-2603G>C)
c.73-54G>C (n.73-54G>C)
c.150G>C (p.Leu50=)
c.84-54G>C (n.84-54G>C)
c.553G>C (p.Gly185Arg)
n.208G>C
c.487-54G>C (n.487-54G>C)
c.375G>C (p.Leu125=)
11g.72106002G>TCA475864790LRRC51,LRTOMT,TOMTc.51G>T (p.Leu17=)
c.438-2603G>T (n.438-2603G>T)
c.73-54G>T (n.73-54G>T)
c.150G>T (p.Leu50=)
c.84-54G>T (n.84-54G>T)
c.553G>T (p.Gly185Cys)
n.208G>T
c.487-54G>T (n.487-54G>T)
c.375G>T (p.Leu125=)
11g.72106003dupCA2695214940LRRC51,LRTOMT,TOMTc.52dup (p.Val18GlyfsTer?)
c.438-2602dup (n.438-2602dup)
c.73-53dup (n.73-53dup)
c.151dup (p.Val51GlyfsTer?)
c.84-53dup (n.84-53dup)
c.554dup (p.Ala186CysfsTer?)
n.209dup
c.487-53dup (n.487-53dup)
c.376dup (p.Val126GlyfsTer?)
11g.72106003G>ACA381717131LRRC51,LRTOMT,TOMTc.52G>A (p.Val18Met)
c.438-2602G>A (n.438-2602G>A)
c.73-53G>A (n.73-53G>A)
c.151G>A (p.Val51Met)
c.84-53G>A (n.84-53G>A)
c.554G>A (p.Gly185Asp)
n.209G>A
c.487-53G>A (n.487-53G>A)
c.376G>A (p.Val126Met)
 gnomAD v4
11g.72106003G>CCA6168570LRRC51,LRTOMT,TOMTc.52G>C (p.Val18Leu)
c.438-2602G>C (n.438-2602G>C)
c.73-53G>C (n.73-53G>C)
c.151G>C (p.Val51Leu)
c.84-53G>C (n.84-53G>C)
c.554G>C (p.Gly185Ala)
n.209G>C
c.487-53G>C (n.487-53G>C)
c.376G>C (p.Val126Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106003G=CA1981839860LRRC51,LRTOMT,TOMTc.52G= (p.Val18=)
c.438-2602G= (n.438-2602G=)
c.73-53G= (n.73-53G=)
c.151G= (p.Val51=)
c.84-53G= (n.84-53G=)
c.554G= (p.Gly185=)
n.209G=
c.487-53G= (n.487-53G=)
c.376G= (p.Val126=)
11g.72106003G>TCA381717137LRRC51,LRTOMT,TOMTc.52G>T (p.Val18Leu)
c.438-2602G>T (n.438-2602G>T)
c.73-53G>T (n.73-53G>T)
c.151G>T (p.Val51Leu)
c.84-53G>T (n.84-53G>T)
c.554G>T (p.Gly185Val)
n.209G>T
c.487-53G>T (n.487-53G>T)
c.376G>T (p.Val126Leu)
11g.72106004T>ACA381717142LRRC51,LRTOMT,TOMTc.53T>A (p.Val18Glu)
c.438-2601T>A (n.438-2601T>A)
c.73-52T>A (n.73-52T>A)
c.152T>A (p.Val51Glu)
c.84-52T>A (n.84-52T>A)
c.555T>A (p.Gly185=)
n.210T>A
c.487-52T>A (n.487-52T>A)
c.377T>A (p.Val126Glu)
11g.72106004T>CCA381717145LRRC51,LRTOMT,TOMTc.53T>C (p.Val18Ala)
c.438-2601T>C (n.438-2601T>C)
c.73-52T>C (n.73-52T>C)
c.152T>C (p.Val51Ala)
c.84-52T>C (n.84-52T>C)
c.555T>C (p.Gly185=)
n.210T>C
c.487-52T>C (n.487-52T>C)
c.377T>C (p.Val126Ala)
 gnomAD v4
11g.72106004T>GCA381717149LRRC51,LRTOMT,TOMTc.53T>G (p.Val18Gly)
c.438-2601T>G (n.438-2601T>G)
c.73-52T>G (n.73-52T>G)
c.152T>G (p.Val51Gly)
c.84-52T>G (n.84-52T>G)
c.555T>G (p.Gly185=)
n.210T>G
c.487-52T>G (n.487-52T>G)
c.377T>G (p.Val126Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106004T=CA1981839861LRRC51,LRTOMT,TOMTc.53T= (p.Val18=)
c.438-2601T= (n.438-2601T=)
c.73-52T= (n.73-52T=)
c.152T= (p.Val51=)
c.84-52T= (n.84-52T=)
c.555T= (p.Gly185=)
n.210T=
c.487-52T= (n.487-52T=)
c.377T= (p.Val126=)
11g.72106005G>ACA475864791LRRC51,LRTOMT,TOMTc.54G>A (p.Val18=)
c.438-2600G>A (n.438-2600G>A)
c.73-51G>A (n.73-51G>A)
c.153G>A (p.Val51=)
c.84-51G>A (n.84-51G>A)
c.556G>A (p.Ala186Thr)
n.211G>A
c.487-51G>A (n.487-51G>A)
c.378G>A (p.Val126=)
 gnomAD v4
11g.72106005G>CCA475864793LRRC51,LRTOMT,TOMTc.54G>C (p.Val18=)
c.438-2600G>C (n.438-2600G>C)
c.73-51G>C (n.73-51G>C)
c.153G>C (p.Val51=)
c.84-51G>C (n.84-51G>C)
c.556G>C (p.Ala186Pro)
n.211G>C
c.487-51G>C (n.487-51G>C)
c.378G>C (p.Val126=)
11g.72106005G>TCA475864792LRRC51,LRTOMT,TOMTc.54G>T (p.Val18=)
c.438-2600G>T (n.438-2600G>T)
c.73-51G>T (n.73-51G>T)
c.153G>T (p.Val51=)
c.84-51G>T (n.84-51G>T)
c.556G>T (p.Ala186Ser)
n.211G>T
c.487-51G>T (n.487-51G>T)
c.378G>T (p.Val126=)
11g.72106006C>ACA475864794LRRC51,LRTOMT,TOMTc.55C>A (p.Arg19=)
c.438-2599C>A (n.438-2599C>A)
c.73-50C>A (n.73-50C>A)
c.154C>A (p.Arg52=)
c.84-50C>A (n.84-50C>A)
c.557C>A (p.Ala186Glu)
n.212C>A
c.487-50C>A (n.487-50C>A)
c.379C>A (p.Arg127=)
 gnomAD v4
11g.72106006C=CA1981839862LRRC51,LRTOMT,TOMTc.55C= (p.Arg19=)
c.438-2599C= (n.438-2599C=)
c.73-50C= (n.73-50C=)
c.154C= (p.Arg52=)
c.84-50C= (n.84-50C=)
c.557C= (p.Ala186=)
n.212C=
c.487-50C= (n.487-50C=)
c.379C= (p.Arg127=)
11g.72106006C>GCA381717152LRRC51,LRTOMT,TOMTc.55C>G (p.Arg19Gly)
c.438-2599C>G (n.438-2599C>G)
c.73-50C>G (n.73-50C>G)
c.154C>G (p.Arg52Gly)
c.84-50C>G (n.84-50C>G)
c.557C>G (p.Ala186Gly)
n.212C>G
c.487-50C>G (n.487-50C>G)
c.379C>G (p.Arg127Gly)
11g.72106006C>TCA381717154LRRC51,LRTOMT,TOMTc.55C>T (p.Arg19Trp)
c.438-2599C>T (n.438-2599C>T)
c.73-50C>T (n.73-50C>T)
c.154C>T (p.Arg52Trp)
c.84-50C>T (n.84-50C>T)
c.557C>T (p.Ala186Val)
n.212C>T
c.487-50C>T (n.487-50C>T)
c.379C>T (p.Arg127Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72106007G>ACA224374463LRRC51,LRTOMT,TOMTc.56G>A (p.Arg19Gln)
c.438-2598G>A (n.438-2598G>A)
c.73-49G>A (n.73-49G>A)
c.155G>A (p.Arg52Gln)
c.84-49G>A (n.84-49G>A)
c.558G>A (p.Ala186=)
n.213G>A
c.487-49G>A (n.487-49G>A)
c.380G>A (p.Arg127Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106007G>CCA381717161LRRC51,LRTOMT,TOMTc.56G>C (p.Arg19Pro)
c.438-2598G>C (n.438-2598G>C)
c.73-49G>C (n.73-49G>C)
c.155G>C (p.Arg52Pro)
c.84-49G>C (n.84-49G>C)
c.558G>C (p.Ala186=)
n.213G>C
c.487-49G>C (n.487-49G>C)
c.380G>C (p.Arg127Pro)
11g.72106007G=CA1981839863LRRC51,LRTOMT,TOMTc.56G= (p.Arg19=)
c.438-2598G= (n.438-2598G=)
c.73-49G= (n.73-49G=)
c.155G= (p.Arg52=)
c.84-49G= (n.84-49G=)
c.558G= (p.Ala186=)
n.213G=
c.487-49G= (n.487-49G=)
c.380G= (p.Arg127=)
11g.72106007G>TCA381717157LRRC51,LRTOMT,TOMTc.56G>T (p.Arg19Leu)
c.438-2598G>T (n.438-2598G>T)
c.73-49G>T (n.73-49G>T)
c.155G>T (p.Arg52Leu)
c.84-49G>T (n.84-49G>T)
c.558G>T (p.Ala186=)
n.213G>T
c.487-49G>T (n.487-49G>T)
c.380G>T (p.Arg127Leu)
11g.72106008G>ACA475864795LRRC51,LRTOMT,TOMTc.57G>A (p.Arg19=)
c.438-2597G>A (n.438-2597G>A)
c.73-48G>A (n.73-48G>A)
c.156G>A (p.Arg52=)
c.84-48G>A (n.84-48G>A)
c.559G>A (p.Val187Ile)
n.214G>A
c.487-48G>A (n.487-48G>A)
c.381G>A (p.Arg127=)
 COSMIC
11g.72106008G>CCA475864796LRRC51,LRTOMT,TOMTc.57G>C (p.Arg19=)
c.438-2597G>C (n.438-2597G>C)
c.73-48G>C (n.73-48G>C)
c.156G>C (p.Arg52=)
c.84-48G>C (n.84-48G>C)
c.559G>C (p.Val187Leu)
n.214G>C
c.487-48G>C (n.487-48G>C)
c.381G>C (p.Arg127=)
11g.72106008G>TCA475864797LRRC51,LRTOMT,TOMTc.57G>T (p.Arg19=)
c.438-2597G>T (n.438-2597G>T)
c.73-48G>T (n.73-48G>T)
c.156G>T (p.Arg52=)
c.84-48G>T (n.84-48G>T)
c.559G>T (p.Val187Leu)
n.214G>T
c.487-48G>T (n.487-48G>T)
c.381G>T (p.Arg127=)
11g.72106009T>ACA381717167LRRC51,LRTOMT,TOMTc.58T>A (p.Tyr20Asn)
c.438-2596T>A (n.438-2596T>A)
c.73-47T>A (n.73-47T>A)
c.157T>A (p.Tyr53Asn)
c.84-47T>A (n.84-47T>A)
c.560T>A (p.Val187Glu)
n.215T>A
c.487-47T>A (n.487-47T>A)
c.382T>A (p.Tyr128Asn)
11g.72106009T>CCA381717184LRRC51,LRTOMT,TOMTc.58T>C (p.Tyr20His)
c.438-2596T>C (n.438-2596T>C)
c.73-47T>C (n.73-47T>C)
c.157T>C (p.Tyr53His)
c.84-47T>C (n.84-47T>C)
c.560T>C (p.Val187Ala)
n.215T>C
c.487-47T>C (n.487-47T>C)
c.382T>C (p.Tyr128His)
11g.72106009T>GCA381717173LRRC51,LRTOMT,TOMTc.58T>G (p.Tyr20Asp)
c.438-2596T>G (n.438-2596T>G)
c.73-47T>G (n.73-47T>G)
c.157T>G (p.Tyr53Asp)
c.84-47T>G (n.84-47T>G)
c.560T>G (p.Val187Gly)
n.215T>G
c.487-47T>G (n.487-47T>G)
c.382T>G (p.Tyr128Asp)
11g.72106010A>CCA381717192LRRC51,LRTOMT,TOMTc.59A>C (p.Tyr20Ser)
c.438-2595A>C (n.438-2595A>C)
c.73-46A>C (n.73-46A>C)
c.158A>C (p.Tyr53Ser)
c.84-46A>C (n.84-46A>C)
c.561A>C (p.Val187=)
n.216A>C
c.487-46A>C (n.487-46A>C)
c.383A>C (p.Tyr128Ser)
11g.72106010A>GCA381717195LRRC51,LRTOMT,TOMTc.59A>G (p.Tyr20Cys)
c.438-2595A>G (n.438-2595A>G)
c.73-46A>G (n.73-46A>G)
c.158A>G (p.Tyr53Cys)
c.84-46A>G (n.84-46A>G)
c.561A>G (p.Val187=)
n.216A>G
c.487-46A>G (n.487-46A>G)
c.383A>G (p.Tyr128Cys)
11g.72106010A>TCA381717197LRRC51,LRTOMT,TOMTc.59A>T (p.Tyr20Phe)
c.438-2595A>T (n.438-2595A>T)
c.73-46A>T (n.73-46A>T)
c.158A>T (p.Tyr53Phe)
c.84-46A>T (n.84-46A>T)
c.561A>T (p.Val187=)
n.216A>T
c.487-46A>T (n.487-46A>T)
c.383A>T (p.Tyr128Phe)
11g.72106011C>ACA381717202LRRC51,LRTOMT,TOMTc.60C>A (p.Tyr20Ter)
c.438-2594C>A (n.438-2594C>A)
c.73-45C>A (n.73-45C>A)
c.159C>A (p.Tyr53Ter)
c.84-45C>A (n.84-45C>A)
c.562C>A (p.Pro188Thr)
n.217C>A
c.487-45C>A (n.487-45C>A)
c.384C>A (p.Tyr128Ter)
11g.72106011C=CA1981839864LRRC51,LRTOMT,TOMTc.60C= (p.Tyr20=)
c.438-2594C= (n.438-2594C=)
c.73-45C= (n.73-45C=)
c.159C= (p.Tyr53=)
c.84-45C= (n.84-45C=)
c.562C= (p.Pro188=)
n.217C=
c.487-45C= (n.487-45C=)
c.384C= (p.Tyr128=)
11g.72106011C>GCA381717203LRRC51,LRTOMT,TOMTc.60C>G (p.Tyr20Ter)
c.438-2594C>G (n.438-2594C>G)
c.73-45C>G (n.73-45C>G)
c.159C>G (p.Tyr53Ter)
c.84-45C>G (n.84-45C>G)
c.562C>G (p.Pro188Ala)
n.217C>G
c.487-45C>G (n.487-45C>G)
c.384C>G (p.Tyr128Ter)
 gnomAD v4
11g.72106011C>TCA475864798LRRC51,LRTOMT,TOMTc.60C>T (p.Tyr20=)
c.438-2594C>T (n.438-2594C>T)
c.73-45C>T (n.73-45C>T)
c.159C>T (p.Tyr53=)
c.84-45C>T (n.84-45C>T)
c.562C>T (p.Pro188Ser)
n.217C>T
c.487-45C>T (n.487-45C>T)
c.384C>T (p.Tyr128=)
 dbSNP gnomAD v4
11g.72106012C>ACA475864799LRRC51,LRTOMT,TOMTc.61C>A (p.Arg21=)
c.438-2593C>A (n.438-2593C>A)
c.73-44C>A (n.73-44C>A)
c.160C>A (p.Arg54=)
c.84-44C>A (n.84-44C>A)
c.563C>A (p.Pro188Gln)
n.218C>A
c.487-44C>A (n.487-44C>A)
c.385C>A (p.Arg129=)
11g.72106012C=CA1981839865LRRC51,LRTOMT,TOMTc.61C= (p.Arg21=)
c.438-2593C= (n.438-2593C=)
c.73-44C= (n.73-44C=)
c.160C= (p.Arg54=)
c.84-44C= (n.84-44C=)
c.563C= (p.Pro188=)
n.218C=
c.487-44C= (n.487-44C=)
c.385C= (p.Arg129=)
11g.72106012C>GCA381717208LRRC51,LRTOMT,TOMTc.61C>G (p.Arg21Gly)
c.438-2593C>G (n.438-2593C>G)
c.73-44C>G (n.73-44C>G)
c.160C>G (p.Arg54Gly)
c.84-44C>G (n.84-44C>G)
c.563C>G (p.Pro188Arg)
n.218C>G
c.487-44C>G (n.487-44C>G)
c.385C>G (p.Arg129Gly)
11g.72106012C>TCA6168571LRRC51,LRTOMT,TOMTc.61C>T (p.Arg21Trp)
c.438-2593C>T (n.438-2593C>T)
c.73-44C>T (n.73-44C>T)
c.160C>T (p.Arg54Trp)
c.84-44C>T (n.84-44C>T)
c.563C>T (p.Pro188Leu)
n.218C>T
c.487-44C>T (n.487-44C>T)
c.385C>T (p.Arg129Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106013G>ACA6168572LRRC51,LRTOMT,TOMTc.62G>A (p.Arg21Gln)
c.438-2592G>A (n.438-2592G>A)
c.73-43G>A (n.73-43G>A)
c.161G>A (p.Arg54Gln)
c.84-43G>A (n.84-43G>A)
c.564G>A (p.Pro188=)
n.219G>A
c.487-43G>A (n.487-43G>A)
c.386G>A (p.Arg129Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106013G>CCA381717218LRRC51,LRTOMT,TOMTc.62G>C (p.Arg21Pro)
c.438-2592G>C (n.438-2592G>C)
c.73-43G>C (n.73-43G>C)
c.161G>C (p.Arg54Pro)
c.84-43G>C (n.84-43G>C)
c.564G>C (p.Pro188=)
n.219G>C
c.487-43G>C (n.487-43G>C)
c.386G>C (p.Arg129Pro)
 gnomAD v4
11g.72106013G=CA1981839866LRRC51,LRTOMT,TOMTc.62G= (p.Arg21=)
c.438-2592G= (n.438-2592G=)
c.73-43G= (n.73-43G=)
c.161G= (p.Arg54=)
c.84-43G= (n.84-43G=)
c.564G= (p.Pro188=)
n.219G=
c.487-43G= (n.487-43G=)
c.386G= (p.Arg129=)
11g.72106013G>TCA381717219LRRC51,LRTOMT,TOMTc.62G>T (p.Arg21Leu)
c.438-2592G>T (n.438-2592G>T)
c.73-43G>T (n.73-43G>T)
c.161G>T (p.Arg54Leu)
c.84-43G>T (n.84-43G>T)
c.564G>T (p.Pro188=)
n.219G>T
c.487-43G>T (n.487-43G>T)
c.386G>T (p.Arg129Leu)
11g.72106014G>ACA475864800LRRC51,LRTOMT,TOMTc.63G>A (p.Arg21=)
c.438-2591G>A (n.438-2591G>A)
c.73-42G>A (n.73-42G>A)
c.162G>A (p.Arg54=)
c.84-42G>A (n.84-42G>A)
c.565G>A (p.Ala189Thr)
n.220G>A
c.487-42G>A (n.487-42G>A)
c.387G>A (p.Arg129=)
 gnomAD v4
11g.72106014G>CCA475864801LRRC51,LRTOMT,TOMTc.63G>C (p.Arg21=)
c.438-2591G>C (n.438-2591G>C)
c.73-42G>C (n.73-42G>C)
c.162G>C (p.Arg54=)
c.84-42G>C (n.84-42G>C)
c.565G>C (p.Ala189Pro)
n.220G>C
c.487-42G>C (n.487-42G>C)
c.387G>C (p.Arg129=)
11g.72106014G>TCA475864802LRRC51,LRTOMT,TOMTc.63G>T (p.Arg21=)
c.438-2591G>T (n.438-2591G>T)
c.73-42G>T (n.73-42G>T)
c.162G>T (p.Arg54=)
c.84-42G>T (n.84-42G>T)
c.565G>T (p.Ala189Ser)
n.220G>T
c.487-42G>T (n.487-42G>T)
c.387G>T (p.Arg129=)
 gnomAD v4
11g.72106015C>ACA381717222LRRC51,LRTOMT,TOMTc.64C>A (p.His22Asn)
c.438-2590C>A (n.438-2590C>A)
c.73-41C>A (n.73-41C>A)
c.163C>A (p.His55Asn)
c.84-41C>A (n.84-41C>A)
c.566C>A (p.Ala189Glu)
n.221C>A
c.487-41C>A (n.487-41C>A)
c.388C>A (p.His130Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.72106015C=CA1981839867LRRC51,LRTOMT,TOMTc.64C= (p.His22=)
c.438-2590C= (n.438-2590C=)
c.73-41C= (n.73-41C=)
c.163C= (p.His55=)
c.84-41C= (n.84-41C=)
c.566C= (p.Ala189=)
n.221C=
c.487-41C= (n.487-41C=)
c.388C= (p.His130=)
11g.72106015C>GCA381717223LRRC51,LRTOMT,TOMTc.64C>G (p.His22Asp)
c.438-2590C>G (n.438-2590C>G)
c.73-41C>G (n.73-41C>G)
c.163C>G (p.His55Asp)
c.84-41C>G (n.84-41C>G)
c.566C>G (p.Ala189Gly)
n.221C>G
c.487-41C>G (n.487-41C>G)
c.388C>G (p.His130Asp)
11g.72106015C>TCA381717224LRRC51,LRTOMT,TOMTc.64C>T (p.His22Tyr)
c.438-2590C>T (n.438-2590C>T)
c.73-41C>T (n.73-41C>T)
c.163C>T (p.His55Tyr)
c.84-41C>T (n.84-41C>T)
c.566C>T (p.Ala189Val)
n.221C>T
c.487-41C>T (n.487-41C>T)
c.388C>T (p.His130Tyr)
 dbSNP gnomAD v2
11g.72106016A>CCA381717229LRRC51,LRTOMT,TOMTc.65A>C (p.His22Pro)
c.438-2589A>C (n.438-2589A>C)
c.73-40A>C (n.73-40A>C)
c.164A>C (p.His55Pro)
c.84-40A>C (n.84-40A>C)
c.567A>C (p.Ala189=)
n.222A>C
c.487-40A>C (n.487-40A>C)
c.389A>C (p.His130Pro)
11g.72106016A>GCA381717238LRRC51,LRTOMT,TOMTc.65A>G (p.His22Arg)
c.438-2589A>G (n.438-2589A>G)
c.73-40A>G (n.73-40A>G)
c.164A>G (p.His55Arg)
c.84-40A>G (n.84-40A>G)
c.567A>G (p.Ala189=)
n.222A>G
c.487-40A>G (n.487-40A>G)
c.389A>G (p.His130Arg)
11g.72106016A>TCA381717235LRRC51,LRTOMT,TOMTc.65A>T (p.His22Leu)
c.438-2589A>T (n.438-2589A>T)
c.73-40A>T (n.73-40A>T)
c.164A>T (p.His55Leu)
c.84-40A>T (n.84-40A>T)
c.567A>T (p.Ala189=)
n.222A>T
c.487-40A>T (n.487-40A>T)
c.389A>T (p.His130Leu)
11g.72106017C>ACA381717244LRRC51,LRTOMT,TOMTc.66C>A (p.His22Gln)
c.438-2588C>A (n.438-2588C>A)
c.73-39C>A (n.73-39C>A)
c.165C>A (p.His55Gln)
c.84-39C>A (n.84-39C>A)
c.568C>A (p.Leu190Ile)
n.223C>A
c.487-39C>A (n.487-39C>A)
c.390C>A (p.His130Gln)
11g.72106017C=CA1981839868LRRC51,LRTOMT,TOMTc.66C= (p.His22=)
c.438-2588C= (n.438-2588C=)
c.73-39C= (n.73-39C=)
c.165C= (p.His55=)
c.84-39C= (n.84-39C=)
c.568C= (p.Leu190=)
n.223C=
c.487-39C= (n.487-39C=)
c.390C= (p.His130=)
11g.72106017C>GCA176672LRRC51,LRTOMT,TOMTc.66C>G (p.His22Gln)
c.438-2588C>G (n.438-2588C>G)
c.73-39C>G (n.73-39C>G)
c.165C>G (p.His55Gln)
c.84-39C>G (n.84-39C>G)
c.568C>G (p.Leu190Val)
n.223C>G
c.487-39C>G (n.487-39C>G)
c.390C>G (p.His130Gln)
 ClinVar dbSNP
11g.72106017C>TCA475864803LRRC51,LRTOMT,TOMTc.66C>T (p.His22=)
c.438-2588C>T (n.438-2588C>T)
c.73-39C>T (n.73-39C>T)
c.165C>T (p.His55=)
c.84-39C>T (n.84-39C>T)
c.568C>T (p.Leu190=)
n.223C>T
c.487-39C>T (n.487-39C>T)
c.390C>T (p.His130=)
 gnomAD v4
11g.72106018T>ACA381717247LRRC51,LRTOMT,TOMTc.67T>A (p.Tyr23Asn)
c.438-2587T>A (n.438-2587T>A)
c.73-38T>A (n.73-38T>A)
c.166T>A (p.Tyr56Asn)
c.84-38T>A (n.84-38T>A)
c.569T>A (p.Leu190Gln)
n.224T>A
c.487-38T>A (n.487-38T>A)
c.391T>A (p.Tyr131Asn)
11g.72106018T>CCA381717250LRRC51,LRTOMT,TOMTc.67T>C (p.Tyr23His)
c.438-2587T>C (n.438-2587T>C)
c.73-38T>C (n.73-38T>C)
c.166T>C (p.Tyr56His)
c.84-38T>C (n.84-38T>C)
c.569T>C (p.Leu190Pro)
n.224T>C
c.487-38T>C (n.487-38T>C)
c.391T>C (p.Tyr131His)
 gnomAD v4
11g.72106018T>GCA381717251LRRC51,LRTOMT,TOMTc.67T>G (p.Tyr23Asp)
c.438-2587T>G (n.438-2587T>G)
c.73-38T>G (n.73-38T>G)
c.166T>G (p.Tyr56Asp)
c.84-38T>G (n.84-38T>G)
c.569T>G (p.Leu190Arg)
n.224T>G
c.487-38T>G (n.487-38T>G)
c.391T>G (p.Tyr131Asp)
11g.72106019A=CA1981839869LRRC51,LRTOMT,TOMTc.68A= (p.Tyr23=)
c.438-2586A= (n.438-2586A=)
c.73-37A= (n.73-37A=)
c.167A= (p.Tyr56=)
c.84-37A= (n.84-37A=)
c.570A= (p.Leu190=)
n.225A=
c.487-37A= (n.487-37A=)
c.392A= (p.Tyr131=)
11g.72106019A>CCA381717252LRRC51,LRTOMT,TOMTc.68A>C (p.Tyr23Ser)
c.438-2586A>C (n.438-2586A>C)
c.73-37A>C (n.73-37A>C)
c.167A>C (p.Tyr56Ser)
c.84-37A>C (n.84-37A>C)
c.570A>C (p.Leu190=)
n.225A>C
c.487-37A>C (n.487-37A>C)
c.392A>C (p.Tyr131Ser)
 dbSNP
11g.72106019A>GCA381717254LRRC51,LRTOMT,TOMTc.68A>G (p.Tyr23Cys)
c.438-2586A>G (n.438-2586A>G)
c.73-37A>G (n.73-37A>G)
c.167A>G (p.Tyr56Cys)
c.84-37A>G (n.84-37A>G)
c.570A>G (p.Leu190=)
n.225A>G
c.487-37A>G (n.487-37A>G)
c.392A>G (p.Tyr131Cys)
11g.72106019A>TCA381717258LRRC51,LRTOMT,TOMTc.68A>T (p.Tyr23Phe)
c.438-2586A>T (n.438-2586A>T)
c.73-37A>T (n.73-37A>T)
c.167A>T (p.Tyr56Phe)
c.84-37A>T (n.84-37A>T)
c.570A>T (p.Leu190=)
n.225A>T
c.487-37A>T (n.487-37A>T)
c.392A>T (p.Tyr131Phe)
11g.72106020C>ACA381717264LRRC51,LRTOMT,TOMTc.69C>A (p.Tyr23Ter)
c.438-2585C>A (n.438-2585C>A)
c.73-36C>A (n.73-36C>A)
c.168C>A (p.Tyr56Ter)
c.84-36C>A (n.84-36C>A)
c.571C>A (p.Leu191Ile)
n.226C>A
c.487-36C>A (n.487-36C>A)
c.393C>A (p.Tyr131Ter)
11g.72106020C>GCA381717266LRRC51,LRTOMT,TOMTc.69C>G (p.Tyr23Ter)
c.438-2585C>G (n.438-2585C>G)
c.73-36C>G (n.73-36C>G)
c.168C>G (p.Tyr56Ter)
c.84-36C>G (n.84-36C>G)
c.571C>G (p.Leu191Val)
n.226C>G
c.487-36C>G (n.487-36C>G)
c.393C>G (p.Tyr131Ter)
11g.72106020C>TCA475864804LRRC51,LRTOMT,TOMTc.69C>T (p.Tyr23=)
c.438-2585C>T (n.438-2585C>T)
c.73-36C>T (n.73-36C>T)
c.168C>T (p.Tyr56=)
c.84-36C>T (n.84-36C>T)
c.571C>T (p.Leu191Phe)
n.226C>T
c.487-36C>T (n.487-36C>T)
c.393C>T (p.Tyr131=)
 dbSNP gnomAD v4
11g.72106021T>ACA381717272LRRC51,LRTOMT,TOMTc.70T>A (p.Phe24Ile)
c.438-2584T>A (n.438-2584T>A)
c.73-35T>A (n.73-35T>A)
c.169T>A (p.Phe57Ile)
c.84-35T>A (n.84-35T>A)
c.572T>A (p.Leu191His)
n.227T>A
c.487-35T>A (n.487-35T>A)
c.394T>A (p.Phe132Ile)
11g.72106021T>CCA381717269LRRC51,LRTOMT,TOMTc.70T>C (p.Phe24Leu)
c.438-2584T>C (n.438-2584T>C)
c.73-35T>C (n.73-35T>C)
c.169T>C (p.Phe57Leu)
c.84-35T>C (n.84-35T>C)
c.572T>C (p.Leu191Pro)
n.227T>C
c.487-35T>C (n.487-35T>C)
c.394T>C (p.Phe132Leu)
 gnomAD v4
11g.72106021T>GCA381717267LRRC51,LRTOMT,TOMTc.70T>G (p.Phe24Val)
c.438-2584T>G (n.438-2584T>G)
c.73-35T>G (n.73-35T>G)
c.169T>G (p.Phe57Val)
c.84-35T>G (n.84-35T>G)
c.572T>G (p.Leu191Arg)
n.227T>G
c.487-35T>G (n.487-35T>G)
c.394T>G (p.Phe132Val)
11g.72106022T>ACA381717277LRRC51,LRTOMT,TOMTc.71T>A (p.Phe24Tyr)
c.438-2583T>A (n.438-2583T>A)
c.73-34T>A (n.73-34T>A)
c.170T>A (p.Phe57Tyr)
c.84-34T>A (n.84-34T>A)
c.573T>A (p.Leu191=)
n.228T>A
c.487-34T>A (n.487-34T>A)
c.395T>A (p.Phe132Tyr)
11g.72106022T>CCA381717279LRRC51,LRTOMT,TOMTc.71T>C (p.Phe24Ser)
c.438-2583T>C (n.438-2583T>C)
c.73-34T>C (n.73-34T>C)
c.170T>C (p.Phe57Ser)
c.84-34T>C (n.84-34T>C)
c.573T>C (p.Leu191=)
n.228T>C
c.487-34T>C (n.487-34T>C)
c.395T>C (p.Phe132Ser)
11g.72106022T>GCA381717282LRRC51,LRTOMT,TOMTc.71T>G (p.Phe24Cys)
c.438-2583T>G (n.438-2583T>G)
c.73-34T>G (n.73-34T>G)
c.170T>G (p.Phe57Cys)
c.84-34T>G (n.84-34T>G)
c.573T>G (p.Leu191=)
n.228T>G
c.487-34T>G (n.487-34T>G)
c.395T>G (p.Phe132Cys)
11g.72106023C>ACA381717287LRRC51,LRTOMT,TOMTc.72C>A (p.Phe24Leu)
c.438-2582C>A (n.438-2582C>A)
c.73-33C>A (n.73-33C>A)
c.171C>A (p.Phe57Leu)
c.84-33C>A (n.84-33C>A)
c.574C>A (p.Pro192Thr)
n.229C>A
c.487-33C>A (n.487-33C>A)
c.396C>A (p.Phe132Leu)
11g.72106023C>GCA381717290LRRC51,LRTOMT,TOMTc.72C>G (p.Phe24Leu)
c.438-2582C>G (n.438-2582C>G)
c.73-33C>G (n.73-33C>G)
c.171C>G (p.Phe57Leu)
c.84-33C>G (n.84-33C>G)
c.574C>G (p.Pro192Ala)
n.229C>G
c.487-33C>G (n.487-33C>G)
c.396C>G (p.Phe132Leu)
11g.72106023C>TCA475864805LRRC51,LRTOMT,TOMTc.72C>T (p.Phe24=)
c.438-2582C>T (n.438-2582C>T)
c.73-33C>T (n.73-33C>T)
c.171C>T (p.Phe57=)
c.84-33C>T (n.84-33C>T)
c.574C>T (p.Pro192Ser)
n.229C>T
c.487-33C>T (n.487-33C>T)
c.396C>T (p.Phe132=)
11g.72106024C>ACA475864806LRRC51,LRTOMT,TOMTc.73C>A (p.Arg25=)
c.438-2581C>A (n.438-2581C>A)
c.73-32C>A (n.73-32C>A)
c.172C>A (p.Arg58=)
c.84-32C>A (n.84-32C>A)
c.575C>A (p.Pro192Gln)
n.230C>A
c.487-32C>A (n.487-32C>A)
c.397C>A (p.Arg133=)
11g.72106024C=CA1981839870LRRC51,LRTOMT,TOMTc.73C= (p.Arg25=)
c.438-2581C= (n.438-2581C=)
c.73-32C= (n.73-32C=)
c.172C= (p.Arg58=)
c.84-32C= (n.84-32C=)
c.575C= (p.Pro192=)
n.230C=
c.487-32C= (n.487-32C=)
c.397C= (p.Arg133=)
11g.72106024C>GCA381717293LRRC51,LRTOMT,TOMTc.73C>G (p.Arg25Gly)
c.438-2581C>G (n.438-2581C>G)
c.73-32C>G (n.73-32C>G)
c.172C>G (p.Arg58Gly)
c.84-32C>G (n.84-32C>G)
c.575C>G (p.Pro192Arg)
n.230C>G
c.487-32C>G (n.487-32C>G)
c.397C>G (p.Arg133Gly)
11g.72106024C>TCA381717295LRRC51,LRTOMT,TOMTc.73C>T (p.Arg25Ter)
c.438-2581C>T (n.438-2581C>T)
c.73-32C>T (n.73-32C>T)
c.172C>T (p.Arg58Ter)
c.84-32C>T (n.84-32C>T)
c.575C>T (p.Pro192Leu)
n.230C>T
c.487-32C>T (n.487-32C>T)
c.397C>T (p.Arg133Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72106025G>ACA224374471LRRC51,LRTOMT,TOMTc.74G>A (p.Arg25Gln)
c.438-2580G>A (n.438-2580G>A)
c.73-31G>A (n.73-31G>A)
c.173G>A (p.Arg58Gln)
c.84-31G>A (n.84-31G>A)
c.576G>A (p.Pro192=)
n.231G>A
c.487-31G>A (n.487-31G>A)
c.398G>A (p.Arg133Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106025G>CCA381717309LRRC51,LRTOMT,TOMTc.74G>C (p.Arg25Pro)
c.438-2580G>C (n.438-2580G>C)
c.73-31G>C (n.73-31G>C)
c.173G>C (p.Arg58Pro)
c.84-31G>C (n.84-31G>C)
c.576G>C (p.Pro192=)
n.231G>C
c.487-31G>C (n.487-31G>C)
c.398G>C (p.Arg133Pro)
11g.72106025G=CA1981839871LRRC51,LRTOMT,TOMTc.74G= (p.Arg25=)
c.438-2580G= (n.438-2580G=)
c.73-31G= (n.73-31G=)
c.173G= (p.Arg58=)
c.84-31G= (n.84-31G=)
c.576G= (p.Pro192=)
n.231G=
c.487-31G= (n.487-31G=)
c.398G= (p.Arg133=)
11g.72106025G>TCA381717311LRRC51,LRTOMT,TOMTc.74G>T (p.Arg25Leu)
c.438-2580G>T (n.438-2580G>T)
c.73-31G>T (n.73-31G>T)
c.173G>T (p.Arg58Leu)
c.84-31G>T (n.84-31G>T)
c.576G>T (p.Pro192=)
n.231G>T
c.487-31G>T (n.487-31G>T)
c.398G>T (p.Arg133Leu)
11g.72106026A>CCA475864809LRRC51,LRTOMT,TOMTc.75A>C (p.Arg25=)
c.438-2579A>C (n.438-2579A>C)
c.73-30A>C (n.73-30A>C)
c.174A>C (p.Arg58=)
c.84-30A>C (n.84-30A>C)
c.577A>C (p.Ile193Leu)
n.232A>C
c.487-30A>C (n.487-30A>C)
c.399A>C (p.Arg133=)
11g.72106026A>GCA475864808LRRC51,LRTOMT,TOMTc.75A>G (p.Arg25=)
c.438-2579A>G (n.438-2579A>G)
c.73-30A>G (n.73-30A>G)
c.174A>G (p.Arg58=)
c.84-30A>G (n.84-30A>G)
c.577A>G (p.Ile193Val)
n.232A>G
c.487-30A>G (n.487-30A>G)
c.399A>G (p.Arg133=)
11g.72106026A>TCA475864807LRRC51,LRTOMT,TOMTc.75A>T (p.Arg25=)
c.438-2579A>T (n.438-2579A>T)
c.73-30A>T (n.73-30A>T)
c.174A>T (p.Arg58=)
c.84-30A>T (n.84-30A>T)
c.577A>T (p.Ile193Phe)
n.232A>T
c.487-30A>T (n.487-30A>T)
c.399A>T (p.Arg133=)
11g.72106027T>ACA381717314LRRC51,LRTOMT,TOMTc.76T>A (p.Leu26Met)
c.438-2578T>A (n.438-2578T>A)
c.73-29T>A (n.73-29T>A)
c.175T>A (p.Leu59Met)
c.84-29T>A (n.84-29T>A)
c.578T>A (p.Ile193Asn)
n.233T>A
c.487-29T>A (n.487-29T>A)
c.400T>A (p.Leu134Met)
11g.72106027T>CCA475864810LRRC51,LRTOMT,TOMTc.76T>C (p.Leu26=)
c.438-2578T>C (n.438-2578T>C)
c.73-29T>C (n.73-29T>C)
c.175T>C (p.Leu59=)
c.84-29T>C (n.84-29T>C)
c.578T>C (p.Ile193Thr)
n.233T>C
c.487-29T>C (n.487-29T>C)
c.400T>C (p.Leu134=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106027T>GCA381717317LRRC51,LRTOMT,TOMTc.76T>G (p.Leu26Val)
c.438-2578T>G (n.438-2578T>G)
c.73-29T>G (n.73-29T>G)
c.175T>G (p.Leu59Val)
c.84-29T>G (n.84-29T>G)
c.578T>G (p.Ile193Ser)
n.233T>G
c.487-29T>G (n.487-29T>G)
c.400T>G (p.Leu134Val)
11g.72106027T=CA1981839872LRRC51,LRTOMT,TOMTc.76T= (p.Leu26=)
c.438-2578T= (n.438-2578T=)
c.73-29T= (n.73-29T=)
c.175T= (p.Leu59=)
c.84-29T= (n.84-29T=)
c.578T= (p.Ile193=)
n.233T=
c.487-29T= (n.487-29T=)
c.400T= (p.Leu134=)
11g.72106028T>ACA381717332LRRC51,LRTOMT,TOMTc.77T>A (p.Leu26Ter)
c.438-2577T>A (n.438-2577T>A)
c.73-28T>A (n.73-28T>A)
c.176T>A (p.Leu59Ter)
c.84-28T>A (n.84-28T>A)
c.579T>A (p.Ile193=)
n.234T>A
c.487-28T>A (n.487-28T>A)
c.401T>A (p.Leu134Ter)
11g.72106028T>CCA381717328LRRC51,LRTOMT,TOMTc.77T>C (p.Leu26Ser)
c.438-2577T>C (n.438-2577T>C)
c.73-28T>C (n.73-28T>C)
c.176T>C (p.Leu59Ser)
c.84-28T>C (n.84-28T>C)
c.579T>C (p.Ile193=)
n.234T>C
c.487-28T>C (n.487-28T>C)
c.401T>C (p.Leu134Ser)
11g.72106028T>GCA381717325LRRC51,LRTOMT,TOMTc.77T>G (p.Leu26Trp)
c.438-2577T>G (n.438-2577T>G)
c.73-28T>G (n.73-28T>G)
c.176T>G (p.Leu59Trp)
c.84-28T>G (n.84-28T>G)
c.579T>G (p.Ile193Met)
n.234T>G
c.487-28T>G (n.487-28T>G)
c.401T>G (p.Leu134Trp)
11g.72106029G>ACA475864811LRRC51,LRTOMT,TOMTc.78G>A (p.Leu26=)
c.438-2576G>A (n.438-2576G>A)
c.73-27G>A (n.73-27G>A)
c.177G>A (p.Leu59=)
c.84-27G>A (n.84-27G>A)
c.580G>A (p.Ala194Thr)
n.235G>A
c.487-27G>A (n.487-27G>A)
c.402G>A (p.Leu134=)
11g.72106029G>CCA381717342LRRC51,LRTOMT,TOMTc.78G>C (p.Leu26Phe)
c.438-2576G>C (n.438-2576G>C)
c.73-27G>C (n.73-27G>C)
c.177G>C (p.Leu59Phe)
c.84-27G>C (n.84-27G>C)
c.580G>C (p.Ala194Pro)
n.235G>C
c.487-27G>C (n.487-27G>C)
c.402G>C (p.Leu134Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.72106029G=CA1981839873LRRC51,LRTOMT,TOMTc.78G= (p.Leu26=)
c.438-2576G= (n.438-2576G=)
c.73-27G= (n.73-27G=)
c.177G= (p.Leu59=)
c.84-27G= (n.84-27G=)
c.580G= (p.Ala194=)
n.235G=
c.487-27G= (n.487-27G=)
c.402G= (p.Leu134=)
11g.72106029G>TCA381717344LRRC51,LRTOMT,TOMTc.78G>T (p.Leu26Phe)
c.438-2576G>T (n.438-2576G>T)
c.73-27G>T (n.73-27G>T)
c.177G>T (p.Leu59Phe)
c.84-27G>T (n.84-27G>T)
c.580G>T (p.Ala194Ser)
n.235G>T
c.487-27G>T (n.487-27G>T)
c.402G>T (p.Leu134Phe)
11g.72106030C>ACA381717367LRRC51,LRTOMT,TOMTc.79C>A (p.Leu27Met)
c.438-2575C>A (n.438-2575C>A)
c.73-26C>A (n.73-26C>A)
c.178C>A (p.Leu60Met)
c.84-26C>A (n.84-26C>A)
c.581C>A (p.Ala194Asp)
n.236C>A
c.487-26C>A (n.487-26C>A)
c.403C>A (p.Leu135Met)
11g.72106030C>GCA381717370LRRC51,LRTOMT,TOMTc.79C>G (p.Leu27Val)
c.438-2575C>G (n.438-2575C>G)
c.73-26C>G (n.73-26C>G)
c.178C>G (p.Leu60Val)
c.84-26C>G (n.84-26C>G)
c.581C>G (p.Ala194Gly)
n.236C>G
c.487-26C>G (n.487-26C>G)
c.403C>G (p.Leu135Val)
11g.72106030C>TCA475864812LRRC51,LRTOMT,TOMTc.79C>T (p.Leu27=)
c.438-2575C>T (n.438-2575C>T)
c.73-26C>T (n.73-26C>T)
c.178C>T (p.Leu60=)
c.84-26C>T (n.84-26C>T)
c.581C>T (p.Ala194Val)
n.236C>T
c.487-26C>T (n.487-26C>T)
c.403C>T (p.Leu135=)
11g.72106031T>ACA381717377LRRC51,LRTOMT,TOMTc.80T>A (p.Leu27Gln)
c.438-2574T>A (n.438-2574T>A)
c.73-25T>A (n.73-25T>A)
c.179T>A (p.Leu60Gln)
c.84-25T>A (n.84-25T>A)
c.582T>A (p.Ala194=)
n.237T>A
c.487-25T>A (n.487-25T>A)
c.404T>A (p.Leu135Gln)
11g.72106031T>CCA381717379LRRC51,LRTOMT,TOMTc.80T>C (p.Leu27Pro)
c.438-2574T>C (n.438-2574T>C)
c.73-25T>C (n.73-25T>C)
c.179T>C (p.Leu60Pro)
c.84-25T>C (n.84-25T>C)
c.582T>C (p.Ala194=)
n.237T>C
c.487-25T>C (n.487-25T>C)
c.404T>C (p.Leu135Pro)
 ClinVar
11g.72106031T>GCA381717381LRRC51,LRTOMT,TOMTc.80T>G (p.Leu27Arg)
c.438-2574T>G (n.438-2574T>G)
c.73-25T>G (n.73-25T>G)
c.179T>G (p.Leu60Arg)
c.84-25T>G (n.84-25T>G)
c.582T>G (p.Ala194=)
n.237T>G
c.487-25T>G (n.487-25T>G)
c.404T>G (p.Leu135Arg)
11g.72106032G>ACA475864813LRRC51,LRTOMT,TOMTc.81G>A (p.Leu27=)
c.438-2573G>A (n.438-2573G>A)
c.73-24G>A (n.73-24G>A)
c.180G>A (p.Leu60=)
c.84-24G>A (n.84-24G>A)
c.583G>A (p.Gly195Ser)
n.238G>A
c.487-24G>A (n.487-24G>A)
c.405G>A (p.Leu135=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106032G>CCA475864815LRRC51,LRTOMT,TOMTc.81G>C (p.Leu27=)
c.438-2573G>C (n.438-2573G>C)
c.73-24G>C (n.73-24G>C)
c.180G>C (p.Leu60=)
c.84-24G>C (n.84-24G>C)
c.583G>C (p.Gly195Arg)
n.238G>C
c.487-24G>C (n.487-24G>C)
c.405G>C (p.Leu135=)
 dbSNP
11g.72106032G=CA1981839874LRRC51,LRTOMT,TOMTc.81G= (p.Leu27=)
c.438-2573G= (n.438-2573G=)
c.73-24G= (n.73-24G=)
c.180G= (p.Leu60=)
c.84-24G= (n.84-24G=)
c.583G= (p.Gly195=)
n.238G=
c.487-24G= (n.487-24G=)
c.405G= (p.Leu135=)
11g.72106032G>TCA475864814LRRC51,LRTOMT,TOMTc.81G>T (p.Leu27=)
c.438-2573G>T (n.438-2573G>T)
c.73-24G>T (n.73-24G>T)
c.180G>T (p.Leu60=)
c.84-24G>T (n.84-24G>T)
c.583G>T (p.Gly195Cys)
n.238G>T
c.487-24G>T (n.487-24G>T)
c.405G>T (p.Leu135=)
11g.72106033delCA2614917432LRRC51,LRTOMT,TOMTc.82del (p.Val28CysfsTer?)
c.438-2572del (n.438-2572del)
c.73-23del (n.73-23del)
c.181del (p.Val61CysfsTer?)
c.84-23del (n.84-23del)
c.584del (p.Gly195ValfsTer?)
n.239del
c.487-23del (n.487-23del)
c.406del (p.Val136CysfsTer?)
 gnomAD v4
11g.72106033G>ACA381717389LRRC51,LRTOMT,TOMTc.82G>A (p.Val28Met)
c.438-2572G>A (n.438-2572G>A)
c.73-23G>A (n.73-23G>A)
c.181G>A (p.Val61Met)
c.84-23G>A (n.84-23G>A)
c.584G>A (p.Gly195Asp)
n.239G>A
c.487-23G>A (n.487-23G>A)
c.406G>A (p.Val136Met)
11g.72106033G>CCA381717391LRRC51,LRTOMT,TOMTc.82G>C (p.Val28Leu)
c.438-2572G>C (n.438-2572G>C)
c.73-23G>C (n.73-23G>C)
c.181G>C (p.Val61Leu)
c.84-23G>C (n.84-23G>C)
c.584G>C (p.Gly195Ala)
n.239G>C
c.487-23G>C (n.487-23G>C)
c.406G>C (p.Val136Leu)
11g.72106033G>TCA381717394LRRC51,LRTOMT,TOMTc.82G>T (p.Val28Leu)
c.438-2572G>T (n.438-2572G>T)
c.73-23G>T (n.73-23G>T)
c.181G>T (p.Val61Leu)
c.84-23G>T (n.84-23G>T)
c.584G>T (p.Gly195Val)
n.239G>T
c.487-23G>T (n.487-23G>T)
c.406G>T (p.Val136Leu)
11g.72106033_72106036delinsGTGCCA1981839875LRRC51,LRTOMT,TOMTc.82_85delinsGTGC (p.Val28=)
c.438-2572_438-2569delinsGTGC (n.438-2572_438-2569delinsGTGC)
c.73-23_73-20delinsGTGC (n.73-23_73-20delinsGTGC)
c.181_184delinsGTGC (p.Val61=)
c.84-23_84-20delinsGTGC (n.84-23_84-20delinsGTGC)
c.584_587delinsGTGC (p.Gly195=)
n.239_242delinsGTGC
c.487-23_487-20delinsGTGC (n.487-23_487-20delinsGTGC)
c.406_409delinsGTGC (p.Val136=)
11g.72106034T>ACA381717395LRRC51,LRTOMT,TOMTc.83T>A (p.Val28Glu)
c.438-2571T>A (n.438-2571T>A)
c.73-22T>A (n.73-22T>A)
c.182T>A (p.Val61Glu)
c.84-22T>A (n.84-22T>A)
c.585T>A (p.Gly195=)
n.240T>A
c.487-22T>A (n.487-22T>A)
c.407T>A (p.Val136Glu)
11g.72106034T>CCA381717396LRRC51,LRTOMT,TOMTc.83T>C (p.Val28Ala)
c.438-2571T>C (n.438-2571T>C)
c.73-22T>C (n.73-22T>C)
c.182T>C (p.Val61Ala)
c.84-22T>C (n.84-22T>C)
c.585T>C (p.Gly195=)
n.240T>C
c.487-22T>C (n.487-22T>C)
c.407T>C (p.Val136Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106034T>GCA381717398LRRC51,LRTOMT,TOMTc.83T>G (p.Val28Gly)
c.438-2571T>G (n.438-2571T>G)
c.73-22T>G (n.73-22T>G)
c.182T>G (p.Val61Gly)
c.84-22T>G (n.84-22T>G)
c.585T>G (p.Gly195=)
n.240T>G
c.487-22T>G (n.487-22T>G)
c.407T>G (p.Val136Gly)
11g.72106034T=CA1981839876LRRC51,LRTOMT,TOMTc.83T= (p.Val28=)
c.438-2571T= (n.438-2571T=)
c.73-22T= (n.73-22T=)
c.182T= (p.Val61=)
c.84-22T= (n.84-22T=)
c.585T= (p.Gly195=)
n.240T=
c.487-22T= (n.487-22T=)
c.407T= (p.Val136=)
11g.72106034_72106036delCA600242549LRRC51,LRTOMT,TOMTc.83_85del (p.Val28_Arg29delinsGly)
c.438-2571_438-2569del (n.438-2571_438-2569del)
c.73-22_73-20del (n.73-22_73-20del)
c.182_184del (p.Val61_Arg62delinsGly)
c.84-22_84-20del (n.84-22_84-20del)
c.585_587del (p.Ala196del)
n.240_242del
c.487-22_487-20del (n.487-22_487-20del)
c.407_409del (p.Val136_Arg137delinsGly)
 dbSNP gnomAD v2
11g.72106035G>ACA475864816LRRC51,LRTOMT,TOMTc.84G>A (p.Val28=)
c.438-2570G>A (n.438-2570G>A)
c.73-21G>A (n.73-21G>A)
c.183G>A (p.Val61=)
c.84-21G>A (n.84-21G>A)
c.586G>A (p.Ala196Thr)
n.241G>A
c.487-21G>A (n.487-21G>A)
c.408G>A (p.Val136=)
 dbSNP gnomAD v3 gnomAD v4
11g.72106035G>CCA475864817LRRC51,LRTOMT,TOMTc.84G>C (p.Val28=)
c.438-2570G>C (n.438-2570G>C)
c.73-21G>C (n.73-21G>C)
c.183G>C (p.Val61=)
c.84-21G>C (n.84-21G>C)
c.586G>C (p.Ala196Pro)
n.241G>C
c.487-21G>C (n.487-21G>C)
c.408G>C (p.Val136=)
11g.72106035G=CA1981839877LRRC51,LRTOMT,TOMTc.84G= (p.Val28=)
c.438-2570G= (n.438-2570G=)
c.73-21G= (n.73-21G=)
c.183G= (p.Val61=)
c.84-21G= (n.84-21G=)
c.586G= (p.Ala196=)
n.241G=
c.487-21G= (n.487-21G=)
c.408G= (p.Val136=)
11g.72106035G>TCA475864818LRRC51,LRTOMT,TOMTc.84G>T (p.Val28=)
c.438-2570G>T (n.438-2570G>T)
c.73-21G>T (n.73-21G>T)
c.183G>T (p.Val61=)
c.84-21G>T (n.84-21G>T)
c.586G>T (p.Ala196Ser)
n.241G>T
c.487-21G>T (n.487-21G>T)
c.408G>T (p.Val136=)
11g.72106036C>ACA381717405LRRC51,LRTOMT,TOMTc.85C>A (p.Arg29Ser)
c.438-2569C>A (n.438-2569C>A)
c.73-20C>A (n.73-20C>A)
c.184C>A (p.Arg62Ser)
c.84-20C>A (n.84-20C>A)
c.587C>A (p.Ala196Glu)
n.242C>A
c.487-20C>A (n.487-20C>A)
c.409C>A (p.Arg137Ser)
11g.72106036C=CA1981839878LRRC51,LRTOMT,TOMTc.85C= (p.Arg29=)
c.438-2569C= (n.438-2569C=)
c.73-20C= (n.73-20C=)
c.184C= (p.Arg62=)
c.84-20C= (n.84-20C=)
c.587C= (p.Ala196=)
n.242C=
c.487-20C= (n.487-20C=)
c.409C= (p.Arg137=)
11g.72106036C>GCA381717408LRRC51,LRTOMT,TOMTc.85C>G (p.Arg29Gly)
c.438-2569C>G (n.438-2569C>G)
c.73-20C>G (n.73-20C>G)
c.184C>G (p.Arg62Gly)
c.84-20C>G (n.84-20C>G)
c.587C>G (p.Ala196Gly)
n.242C>G
c.487-20C>G (n.487-20C>G)
c.409C>G (p.Arg137Gly)
11g.72106036C>TCA6168573LRRC51,LRTOMT,TOMTc.85C>T (p.Arg29Cys)
c.438-2569C>T (n.438-2569C>T)
c.73-20C>T (n.73-20C>T)
c.184C>T (p.Arg62Cys)
c.84-20C>T (n.84-20C>T)
c.587C>T (p.Ala196Val)
n.242C>T
c.487-20C>T (n.487-20C>T)
c.409C>T (p.Arg137Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106037G>ACA6168574LRRC51,LRTOMT,TOMTc.86G>A (p.Arg29His)
c.438-2568G>A (n.438-2568G>A)
c.73-19G>A (n.73-19G>A)
c.185G>A (p.Arg62His)
c.84-19G>A (n.84-19G>A)
c.588G>A (p.Ala196=)
n.243G>A
c.487-19G>A (n.487-19G>A)
c.410G>A (p.Arg137His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106037G>CCA381717426LRRC51,LRTOMT,TOMTc.86G>C (p.Arg29Pro)
c.438-2568G>C (n.438-2568G>C)
c.73-19G>C (n.73-19G>C)
c.185G>C (p.Arg62Pro)
c.84-19G>C (n.84-19G>C)
c.588G>C (p.Ala196=)
n.243G>C
c.487-19G>C (n.487-19G>C)
c.410G>C (p.Arg137Pro)
11g.72106037G=CA1981839879LRRC51,LRTOMT,TOMTc.86G= (p.Arg29=)
c.438-2568G= (n.438-2568G=)
c.73-19G= (n.73-19G=)
c.185G= (p.Arg62=)
c.84-19G= (n.84-19G=)
c.588G= (p.Ala196=)
n.243G=
c.487-19G= (n.487-19G=)
c.410G= (p.Arg137=)
11g.72106037G>TCA381717423LRRC51,LRTOMT,TOMTc.86G>T (p.Arg29Leu)
c.438-2568G>T (n.438-2568G>T)
c.73-19G>T (n.73-19G>T)
c.185G>T (p.Arg62Leu)
c.84-19G>T (n.84-19G>T)
c.588G>T (p.Ala196=)
n.243G>T
c.487-19G>T (n.487-19G>T)
c.410G>T (p.Arg137Leu)
11g.72106038C>ACA475864819LRRC51,LRTOMT,TOMTc.87C>A (p.Arg29=)
c.438-2567C>A (n.438-2567C>A)
c.73-18C>A (n.73-18C>A)
c.186C>A (p.Arg62=)
c.84-18C>A (n.84-18C>A)
c.589C>A (p.His197Asn)
n.244C>A
c.487-18C>A (n.487-18C>A)
c.411C>A (p.Arg137=)
11g.72106038C>GCA475864820LRRC51,LRTOMT,TOMTc.87C>G (p.Arg29=)
c.438-2567C>G (n.438-2567C>G)
c.73-18C>G (n.73-18C>G)
c.186C>G (p.Arg62=)
c.84-18C>G (n.84-18C>G)
c.589C>G (p.His197Asp)
n.244C>G
c.487-18C>G (n.487-18C>G)
c.411C>G (p.Arg137=)
11g.72106038C>TCA475864821LRRC51,LRTOMT,TOMTc.87C>T (p.Arg29=)
c.438-2567C>T (n.438-2567C>T)
c.73-18C>T (n.73-18C>T)
c.186C>T (p.Arg62=)
c.84-18C>T (n.84-18C>T)
c.589C>T (p.His197Tyr)
n.244C>T
c.487-18C>T (n.487-18C>T)
c.411C>T (p.Arg137=)
11g.72106039A>CCA381717431LRRC51,LRTOMT,TOMTc.88A>C (p.Thr30Pro)
c.438-2566A>C (n.438-2566A>C)
c.73-17A>C (n.73-17A>C)
c.187A>C (p.Thr63Pro)
c.84-17A>C (n.84-17A>C)
c.590A>C (p.His197Pro)
n.245A>C
c.487-17A>C (n.487-17A>C)
c.412A>C (p.Thr138Pro)
11g.72106039A>GCA381717437LRRC51,LRTOMT,TOMTc.88A>G (p.Thr30Ala)
c.438-2566A>G (n.438-2566A>G)
c.73-17A>G (n.73-17A>G)
c.187A>G (p.Thr63Ala)
c.84-17A>G (n.84-17A>G)
c.590A>G (p.His197Arg)
n.245A>G
c.487-17A>G (n.487-17A>G)
c.412A>G (p.Thr138Ala)
 gnomAD v4
11g.72106039A>TCA381717434LRRC51,LRTOMT,TOMTc.88A>T (p.Thr30Ser)
c.438-2566A>T (n.438-2566A>T)
c.73-17A>T (n.73-17A>T)
c.187A>T (p.Thr63Ser)
c.84-17A>T (n.84-17A>T)
c.590A>T (p.His197Leu)
n.245A>T
c.487-17A>T (n.487-17A>T)
c.412A>T (p.Thr138Ser)
11g.72106040C>ACA381717442LRRC51,LRTOMT,TOMTc.89C>A (p.Thr30Lys)
c.438-2565C>A (n.438-2565C>A)
c.73-16C>A (n.73-16C>A)
c.188C>A (p.Thr63Lys)
c.84-16C>A (n.84-16C>A)
c.591C>A (p.His197Gln)
n.246C>A
c.487-16C>A (n.487-16C>A)
c.413C>A (p.Thr138Lys)
 gnomAD v4
11g.72106040C=CA1981839880LRRC51,LRTOMT,TOMTc.89C= (p.Thr30=)
c.438-2565C= (n.438-2565C=)
c.73-16C= (n.73-16C=)
c.188C= (p.Thr63=)
c.84-16C= (n.84-16C=)
c.591C= (p.His197=)
n.246C=
c.487-16C= (n.487-16C=)
c.413C= (p.Thr138=)
11g.72106040C>GCA381717444LRRC51,LRTOMT,TOMTc.89C>G (p.Thr30Arg)
c.438-2565C>G (n.438-2565C>G)
c.73-16C>G (n.73-16C>G)
c.188C>G (p.Thr63Arg)
c.84-16C>G (n.84-16C>G)
c.591C>G (p.His197Gln)
n.246C>G
c.487-16C>G (n.487-16C>G)
c.413C>G (p.Thr138Arg)
11g.72106040C>TCA10576898LRRC51,LRTOMT,TOMTc.89C>T (p.Thr30Met)
c.438-2565C>T (n.438-2565C>T)
c.73-16C>T (n.73-16C>T)
c.188C>T (p.Thr63Met)
c.84-16C>T (n.84-16C>T)
c.591C>T (p.His197=)
n.246C>T
c.487-16C>T (n.487-16C>T)
c.413C>T (p.Thr138Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106041G>ACA6168575LRRC51,LRTOMT,TOMTc.90G>A (p.Thr30=)
c.438-2564G>A (n.438-2564G>A)
c.73-15G>A (n.73-15G>A)
c.189G>A (p.Thr63=)
c.84-15G>A (n.84-15G>A)
c.592G>A (p.Gly198Ser)
n.247G>A
c.487-15G>A (n.487-15G>A)
c.414G>A (p.Thr138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.72106041G>CCA475864822LRRC51,LRTOMT,TOMTc.90G>C (p.Thr30=)
c.438-2564G>C (n.438-2564G>C)
c.73-15G>C (n.73-15G>C)
c.189G>C (p.Thr63=)
c.84-15G>C (n.84-15G>C)
c.592G>C (p.Gly198Arg)
n.247G>C
c.487-15G>C (n.487-15G>C)
c.414G>C (p.Thr138=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106041G=CA1981839881LRRC51,LRTOMT,TOMTc.90G= (p.Thr30=)
c.438-2564G= (n.438-2564G=)
c.73-15G= (n.73-15G=)
c.189G= (p.Thr63=)
c.84-15G= (n.84-15G=)
c.592G= (p.Gly198=)
n.247G=
c.487-15G= (n.487-15G=)
c.414G= (p.Thr138=)
11g.72106041G>TCA475864823LRRC51,LRTOMT,TOMTc.90G>T (p.Thr30=)
c.438-2564G>T (n.438-2564G>T)
c.73-15G>T (n.73-15G>T)
c.189G>T (p.Thr63=)
c.84-15G>T (n.84-15G>T)
c.592G>T (p.Gly198Cys)
n.247G>T
c.487-15G>T (n.487-15G>T)
c.414G>T (p.Thr138=)
11g.72106042G>ACA381717455LRRC51,LRTOMT,TOMTc.91G>A (p.Val31Ile)
c.438-2563G>A (n.438-2563G>A)
c.73-14G>A (n.73-14G>A)
c.190G>A (p.Val64Ile)
c.84-14G>A (n.84-14G>A)
c.593G>A (p.Gly198Asp)
n.248G>A
c.487-14G>A (n.487-14G>A)
c.415G>A (p.Val139Ile)
11g.72106042G>CCA381717458LRRC51,LRTOMT,TOMTc.91G>C (p.Val31Leu)
c.438-2563G>C (n.438-2563G>C)
c.73-14G>C (n.73-14G>C)
c.190G>C (p.Val64Leu)
c.84-14G>C (n.84-14G>C)
c.593G>C (p.Gly198Ala)
n.248G>C
c.487-14G>C (n.487-14G>C)
c.415G>C (p.Val139Leu)
11g.72106042G>TCA381717461LRRC51,LRTOMT,TOMTc.91G>T (p.Val31Phe)
c.438-2563G>T (n.438-2563G>T)
c.73-14G>T (n.73-14G>T)
c.190G>T (p.Val64Phe)
c.84-14G>T (n.84-14G>T)
c.593G>T (p.Gly198Val)
n.248G>T
c.487-14G>T (n.487-14G>T)
c.415G>T (p.Val139Phe)
11g.72106043T>ACA381717465LRRC51,LRTOMT,TOMTc.92T>A (p.Val31Asp)
c.438-2562T>A (n.438-2562T>A)
c.73-13T>A (n.73-13T>A)
c.191T>A (p.Val64Asp)
c.84-13T>A (n.84-13T>A)
c.594T>A (p.Gly198=)
n.249T>A
c.487-13T>A (n.487-13T>A)
c.416T>A (p.Val139Asp)
11g.72106043T>CCA381717467LRRC51,LRTOMT,TOMTc.92T>C (p.Val31Ala)
c.438-2562T>C (n.438-2562T>C)
c.73-13T>C (n.73-13T>C)
c.191T>C (p.Val64Ala)
c.84-13T>C (n.84-13T>C)
c.594T>C (p.Gly198=)
n.249T>C
c.487-13T>C (n.487-13T>C)
c.416T>C (p.Val139Ala)
11g.72106043T>GCA185304LRRC51,LRTOMT,TOMTc.92T>G (p.Val31Gly)
c.438-2562T>G (n.438-2562T>G)
c.73-13T>G (n.73-13T>G)
c.191T>G (p.Val64Gly)
c.84-13T>G (n.84-13T>G)
c.594T>G (p.Gly198=)
n.249T>G
c.487-13T>G (n.487-13T>G)
c.416T>G (p.Val139Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106043T=CA1981839882LRRC51,LRTOMT,TOMTc.92T= (p.Val31=)
c.438-2562T= (n.438-2562T=)
c.73-13T= (n.73-13T=)
c.191T= (p.Val64=)
c.84-13T= (n.84-13T=)
c.594T= (p.Gly198=)
n.249T=
c.487-13T= (n.487-13T=)
c.416T= (p.Val139=)
11g.72106044C>ACA475864824LRRC51,LRTOMT,TOMTc.93C>A (p.Val31=)
c.438-2561C>A (n.438-2561C>A)
c.73-12C>A (n.73-12C>A)
c.192C>A (p.Val64=)
c.84-12C>A (n.84-12C>A)
c.595C>A (p.Leu199Ile)
n.250C>A
c.487-12C>A (n.487-12C>A)
c.417C>A (p.Val139=)
 gnomAD v4
11g.72106044C>GCA475864825LRRC51,LRTOMT,TOMTc.93C>G (p.Val31=)
c.438-2561C>G (n.438-2561C>G)
c.73-12C>G (n.73-12C>G)
c.192C>G (p.Val64=)
c.84-12C>G (n.84-12C>G)
c.595C>G (p.Leu199Val)
n.250C>G
c.487-12C>G (n.487-12C>G)
c.417C>G (p.Val139=)
11g.72106044C>TCA475864826LRRC51,LRTOMT,TOMTc.93C>T (p.Val31=)
c.438-2561C>T (n.438-2561C>T)
c.73-12C>T (n.73-12C>T)
c.192C>T (p.Val64=)
c.84-12C>T (n.84-12C>T)
c.595C>T (p.Leu199Phe)
n.250C>T
c.487-12C>T (n.487-12C>T)
c.417C>T (p.Val139=)
11g.72106045T>ACA381717474LRRC51,LRTOMT,TOMTc.94T>A (p.Leu32Met)
c.438-2560T>A (n.438-2560T>A)
c.73-11T>A (n.73-11T>A)
c.193T>A (p.Leu65Met)
c.84-11T>A (n.84-11T>A)
c.596T>A (p.Leu199His)
n.251T>A
c.487-11T>A (n.487-11T>A)
c.418T>A (p.Leu140Met)
11g.72106045T>CCA475864827LRRC51,LRTOMT,TOMTc.94T>C (p.Leu32=)
c.438-2560T>C (n.438-2560T>C)
c.73-11T>C (n.73-11T>C)
c.193T>C (p.Leu65=)
c.84-11T>C (n.84-11T>C)
c.596T>C (p.Leu199Pro)
n.251T>C
c.487-11T>C (n.487-11T>C)
c.418T>C (p.Leu140=)
11g.72106045T>GCA381717478LRRC51,LRTOMT,TOMTc.94T>G (p.Leu32Val)
c.438-2560T>G (n.438-2560T>G)
c.73-11T>G (n.73-11T>G)
c.193T>G (p.Leu65Val)
c.84-11T>G (n.84-11T>G)
c.596T>G (p.Leu199Arg)
n.251T>G
c.487-11T>G (n.487-11T>G)
c.418T>G (p.Leu140Val)
11g.72106046T>ACA381717483LRRC51,LRTOMT,TOMTc.95T>A (p.Leu32Ter)
c.438-2559T>A (n.438-2559T>A)
c.73-10T>A (n.73-10T>A)
c.194T>A (p.Leu65Ter)
c.84-10T>A (n.84-10T>A)
c.597T>A (p.Leu199=)
n.252T>A
c.487-10T>A (n.487-10T>A)
c.419T>A (p.Leu140Ter)
11g.72106046T>CCA381717491LRRC51,LRTOMT,TOMTc.95T>C (p.Leu32Ser)
c.438-2559T>C (n.438-2559T>C)
c.73-10T>C (n.73-10T>C)
c.194T>C (p.Leu65Ser)
c.84-10T>C (n.84-10T>C)
c.597T>C (p.Leu199=)
n.252T>C
c.487-10T>C (n.487-10T>C)
c.419T>C (p.Leu140Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106046T>GCA381717488LRRC51,LRTOMT,TOMTc.95T>G (p.Leu32Trp)
c.438-2559T>G (n.438-2559T>G)
c.73-10T>G (n.73-10T>G)
c.194T>G (p.Leu65Trp)
c.84-10T>G (n.84-10T>G)
c.597T>G (p.Leu199=)
n.252T>G
c.487-10T>G (n.487-10T>G)
c.419T>G (p.Leu140Trp)
11g.72106046T=CA1981839883LRRC51,LRTOMT,TOMTc.95T= (p.Leu32=)
c.438-2559T= (n.438-2559T=)
c.73-10T= (n.73-10T=)
c.194T= (p.Leu65=)
c.84-10T= (n.84-10T=)
c.597T= (p.Leu199=)
n.252T=
c.487-10T= (n.487-10T=)
c.419T= (p.Leu140=)
11g.72106047G>ACA475864828LRRC51,LRTOMT,TOMTc.96G>A (p.Leu32=)
c.438-2558G>A (n.438-2558G>A)
c.73-9G>A (n.73-9G>A)
c.195G>A (p.Leu65=)
c.84-9G>A (n.84-9G>A)
c.598G>A (p.Ala200Thr)
n.253G>A
c.487-9G>A (n.487-9G>A)
c.420G>A (p.Leu140=)
11g.72106047G>CCA381717498LRRC51,LRTOMT,TOMTc.96G>C (p.Leu32Phe)
c.438-2558G>C (n.438-2558G>C)
c.73-9G>C (n.73-9G>C)
c.195G>C (p.Leu65Phe)
c.84-9G>C (n.84-9G>C)
c.598G>C (p.Ala200Pro)
n.253G>C
c.487-9G>C (n.487-9G>C)
c.420G>C (p.Leu140Phe)
11g.72106047G>TCA381717501LRRC51,LRTOMT,TOMTc.96G>T (p.Leu32Phe)
c.438-2558G>T (n.438-2558G>T)
c.73-9G>T (n.73-9G>T)
c.195G>T (p.Leu65Phe)
c.84-9G>T (n.84-9G>T)
c.598G>T (p.Ala200Ser)
n.253G>T
c.487-9G>T (n.487-9G>T)
c.420G>T (p.Leu140Phe)
11g.72106048_72106052dupCA600242550LRRC51,LRTOMT,TOMTc.97_101dup (p.Ser35CysfsTer?)
c.438-2557_438-2553dup (n.438-2557_438-2553dup)
c.73-8_73-4dup (n.73-8_73-4dup)
c.196_200dup (p.Ser68CysfsTer?)
c.84-8_84-4dup (n.84-8_84-4dup)
c.599_603dup (p.Lys202LeufsTer?)
n.254_258dup
c.487-8_487-4dup (n.487-8_487-4dup)
c.421_425dup (p.Ser143CysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.72106048C>ACA224374487LRRC51,LRTOMT,TOMTc.97C>A (p.Leu33Met)
c.438-2557C>A (n.438-2557C>A)
c.73-8C>A (n.73-8C>A)
c.196C>A (p.Leu66Met)
c.84-8C>A (n.84-8C>A)
c.599C>A (p.Ala200Asp)
n.254C>A
c.487-8C>A (n.487-8C>A)
c.421C>A (p.Leu141Met)
 dbSNP
11g.72106048C=CA1981839884LRRC51,LRTOMT,TOMTc.97C= (p.Leu33=)
c.438-2557C= (n.438-2557C=)
c.73-8C= (n.73-8C=)
c.196C= (p.Leu66=)
c.84-8C= (n.84-8C=)
c.599C= (p.Ala200=)
n.254C=
c.487-8C= (n.487-8C=)
c.421C= (p.Leu141=)
11g.72106048C>GCA10576899LRRC51,LRTOMT,TOMTc.97C>G (p.Leu33Val)
c.438-2557C>G (n.438-2557C>G)
c.73-8C>G (n.73-8C>G)
c.196C>G (p.Leu66Val)
c.84-8C>G (n.84-8C>G)
c.599C>G (p.Ala200Gly)
n.254C>G
c.487-8C>G (n.487-8C>G)
c.421C>G (p.Leu141Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72106048C>TCA475864829LRRC51,LRTOMT,TOMTc.97C>T (p.Leu33=)
c.438-2557C>T (n.438-2557C>T)
c.73-8C>T (n.73-8C>T)
c.196C>T (p.Leu66=)
c.84-8C>T (n.84-8C>T)
c.599C>T (p.Ala200Val)
n.254C>T
c.487-8C>T (n.487-8C>T)
c.421C>T (p.Leu141=)
 dbSNP gnomAD v2
11g.72106049T>ACA381717515LRRC51,LRTOMT,TOMTc.98T>A (p.Leu33Gln)
c.438-2556T>A (n.438-2556T>A)
c.73-7T>A (n.73-7T>A)
c.197T>A (p.Leu66Gln)
c.84-7T>A (n.84-7T>A)
c.600T>A (p.Ala200=)
n.255T>A
c.487-7T>A (n.487-7T>A)
c.422T>A (p.Leu141Gln)
11g.72106049T>CCA6168576LRRC51,LRTOMT,TOMTc.98T>C (p.Leu33Pro)
c.438-2556T>C (n.438-2556T>C)
c.73-7T>C (n.73-7T>C)
c.197T>C (p.Leu66Pro)
c.84-7T>C (n.84-7T>C)
c.600T>C (p.Ala200=)
n.255T>C
c.487-7T>C (n.487-7T>C)
c.422T>C (p.Leu141Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106049T>GCA224374494LRRC51,LRTOMT,TOMTc.98T>G (p.Leu33Arg)
c.438-2556T>G (n.438-2556T>G)
c.73-7T>G (n.73-7T>G)
c.197T>G (p.Leu66Arg)
c.84-7T>G (n.84-7T>G)
c.600T>G (p.Ala200=)
n.255T>G
c.487-7T>G (n.487-7T>G)
c.422T>G (p.Leu141Arg)
 dbSNP
11g.72106049T=CA1981839885LRRC51,LRTOMT,TOMTc.98T= (p.Leu33=)
c.438-2556T= (n.438-2556T=)
c.73-7T= (n.73-7T=)
c.197T= (p.Leu66=)
c.84-7T= (n.84-7T=)
c.600T= (p.Ala200=)
n.255T=
c.487-7T= (n.487-7T=)
c.422T= (p.Leu141=)
11g.72106050G>ACA475864830LRRC51,LRTOMT,TOMTc.99G>A (p.Leu33=)
c.438-2555G>A (n.438-2555G>A)
c.73-6G>A (n.73-6G>A)
c.198G>A (p.Leu66=)
c.84-6G>A (n.84-6G>A)
c.601G>A (p.Ala201Thr)
n.256G>A
c.487-6G>A (n.487-6G>A)
c.423G>A (p.Leu141=)
 gnomAD v4
11g.72106050G>CCA475864831LRRC51,LRTOMT,TOMTc.99G>C (p.Leu33=)
c.438-2555G>C (n.438-2555G>C)
c.73-6G>C (n.73-6G>C)
c.198G>C (p.Leu66=)
c.84-6G>C (n.84-6G>C)
c.601G>C (p.Ala201Pro)
n.256G>C
c.487-6G>C (n.487-6G>C)
c.423G>C (p.Leu141=)
11g.72106050G>TCA475864832LRRC51,LRTOMT,TOMTc.99G>T (p.Leu33=)
c.438-2555G>T (n.438-2555G>T)
c.73-6G>T (n.73-6G>T)
c.198G>T (p.Leu66=)
c.84-6G>T (n.84-6G>T)
c.601G>T (p.Ala201Ser)
n.256G>T
c.487-6G>T (n.487-6G>T)
c.423G>T (p.Leu141=)
11g.72106051C>ACA475864833LRRC51,LRTOMT,TOMTc.100C>A (p.Arg34=)
c.438-2554C>A (n.438-2554C>A)
c.73-5C>A (n.73-5C>A)
c.199C>A (p.Arg67=)
c.84-5C>A (n.84-5C>A)
c.602C>A (p.Ala201Glu)
n.257C>A
c.487-5C>A (n.487-5C>A)
c.424C>A (p.Arg142=)
11g.72106051C=CA1981839886LRRC51,LRTOMT,TOMTc.100C= (p.Arg34=)
c.438-2554C= (n.438-2554C=)
c.73-5C= (n.73-5C=)
c.199C= (p.Arg67=)
c.84-5C= (n.84-5C=)
c.602C= (p.Ala201=)
n.257C=
c.487-5C= (n.487-5C=)
c.424C= (p.Arg142=)
11g.72106051C>GCA381717526LRRC51,LRTOMT,TOMTc.100C>G (p.Arg34Gly)
c.438-2554C>G (n.438-2554C>G)
c.73-5C>G (n.73-5C>G)
c.199C>G (p.Arg67Gly)
c.84-5C>G (n.84-5C>G)
c.602C>G (p.Ala201Gly)
n.257C>G
c.487-5C>G (n.487-5C>G)
c.424C>G (p.Arg142Gly)
11g.72106051C>TCA6168577LRRC51,LRTOMT,TOMTc.100C>T (p.Arg34Ter)
c.438-2554C>T (n.438-2554C>T)
c.73-5C>T (n.73-5C>T)
c.199C>T (p.Arg67Ter)
c.84-5C>T (n.84-5C>T)
c.602C>T (p.Ala201Val)
n.257C>T
c.487-5C>T (n.487-5C>T)
c.424C>T (p.Arg142Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.72106052G>ACA381717535LRRC51,LRTOMT,TOMTc.101G>A (p.Arg34Gln)
c.438-2553G>A (n.438-2553G>A)
c.73-4G>A (n.73-4G>A)
c.200G>A (p.Arg67Gln)
c.84-4G>A (n.84-4G>A)
c.603G>A (p.Ala201=)
n.258G>A
c.487-4G>A (n.487-4G>A)
c.425G>A (p.Arg142Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.72106052G>CCA381717549LRRC51,LRTOMT,TOMTc.101G>C (p.Arg34Pro)
c.438-2553G>C (n.438-2553G>C)
c.73-4G>C (n.73-4G>C)
c.200G>C (p.Arg67Pro)
c.84-4G>C (n.84-4G>C)
c.603G>C (p.Ala201=)
n.258G>C
c.487-4G>C (n.487-4G>C)
c.425G>C (p.Arg142Pro)
11g.72106052G=CA1981839887LRRC51,LRTOMT,TOMTc.101G= (p.Arg34=)
c.438-2553G= (n.438-2553G=)
c.73-4G= (n.73-4G=)
c.200G= (p.Arg67=)
c.84-4G= (n.84-4G=)
c.603G= (p.Ala201=)
n.258G=
c.487-4G= (n.487-4G=)
c.425G= (p.Arg142=)
11g.72106052G>TCA381717533LRRC51,LRTOMT,TOMTc.101G>T (p.Arg34Leu)
c.438-2553G>T (n.438-2553G>T)
c.73-4G>T (n.73-4G>T)
c.200G>T (p.Arg67Leu)
c.84-4G>T (n.84-4G>T)
c.603G>T (p.Ala201=)
n.258G>T
c.487-4G>T (n.487-4G>T)
c.425G>T (p.Arg142Leu)
11g.72106053A>CCA475864836LRRC51,LRTOMT,TOMTc.102A>C (p.Arg34=)
c.438-2552A>C (n.438-2552A>C)
c.73-3A>C (n.73-3A>C)
c.201A>C (p.Arg67=)
c.84-3A>C (n.84-3A>C)
c.604A>C (p.Lys202Gln)
n.259A>C
c.487-3A>C (n.487-3A>C)
c.426A>C (p.Arg142=)
11g.72106053A>GCA475864835LRRC51,LRTOMT,TOMTc.102A>G (p.Arg34=)
c.438-2552A>G (n.438-2552A>G)
c.73-3A>G (n.73-3A>G)
c.201A>G (p.Arg67=)
c.84-3A>G (n.84-3A>G)
c.604A>G (p.Lys202Glu)
n.259A>G
c.487-3A>G (n.487-3A>G)
c.426A>G (p.Arg142=)
 gnomAD v4
11g.72106053A>TCA475864834LRRC51,LRTOMT,TOMTc.102A>T (p.Arg34=)
c.438-2552A>T (n.438-2552A>T)
c.73-3A>T (n.73-3A>T)
c.201A>T (p.Arg67=)
c.84-3A>T (n.84-3A>T)
c.604A>T (p.Lys202Ter)
n.259A>T
c.487-3A>T (n.487-3A>T)
c.426A>T (p.Arg142=)
11g.72106054A>CCA381717553LRRC51,LRTOMT,TOMTc.103A>C (p.Ser35Arg)
c.438-2551A>C (n.438-2551A>C)
c.73-2A>C (n.73-2A>C)
c.202A>C (p.Ser68Arg)
c.84-2A>C (n.84-2A>C)
c.605A>C (p.Lys202Thr)
n.260A>C
c.487-2A>C (n.487-2A>C)
c.427A>C (p.Ser143Arg)
11g.72106054A>GCA381717557LRRC51,LRTOMT,TOMTc.103A>G (p.Ser35Gly)
c.438-2551A>G (n.438-2551A>G)
c.73-2A>G (n.73-2A>G)
c.202A>G (p.Ser68Gly)
c.84-2A>G (n.84-2A>G)
c.605A>G (p.Lys202Arg)
n.260A>G
c.487-2A>G (n.487-2A>G)
c.427A>G (p.Ser143Gly)
 gnomAD v4
11g.72106054A>TCA381717559LRRC51,LRTOMT,TOMTc.103A>T (p.Ser35Cys)
c.438-2551A>T (n.438-2551A>T)
c.73-2A>T (n.73-2A>T)
c.202A>T (p.Ser68Cys)
c.84-2A>T (n.84-2A>T)
c.605A>T (p.Lys202Met)
n.260A>T
c.487-2A>T (n.487-2A>T)
c.427A>T (p.Ser143Cys)
11g.72106055G>ACA381717564LRRC51,LRTOMT,TOMTc.104G>A (p.Ser35Asn)
c.438-2550G>A (n.438-2550G>A)
c.73-1G>A (n.73-1G>A)
c.203G>A (p.Ser68Asn)
c.84-1G>A (n.84-1G>A)
c.606G>A (p.Lys202=)
n.261G>A
c.487-1G>A (n.487-1G>A)
c.428G>A (p.Ser143Asn)
11g.72106055G>CCA224374499LRRC51,LRTOMT,TOMTc.104G>C (p.Ser35Thr)
c.438-2550G>C (n.438-2550G>C)
c.73-1G>C (n.73-1G>C)
c.203G>C (p.Ser68Thr)
c.84-1G>C (n.84-1G>C)
c.606G>C (p.Lys202Asn)
n.261G>C
c.487-1G>C (n.487-1G>C)
c.428G>C (p.Ser143Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.72106055G=CA1981839888LRRC51,LRTOMT,TOMTc.104G= (p.Ser35=)
c.438-2550G= (n.438-2550G=)
c.73-1G= (n.73-1G=)
c.203G= (p.Ser68=)
c.84-1G= (n.84-1G=)
c.606G= (p.Lys202=)
n.261G=
c.487-1G= (n.487-1G=)
c.428G= (p.Ser143=)
11g.72106055G>TCA381717568LRRC51,LRTOMT,TOMTc.104G>T (p.Ser35Ile)
c.438-2550G>T (n.438-2550G>T)
c.73-1G>T (n.73-1G>T)
c.203G>T (p.Ser68Ile)
c.84-1G>T (n.84-1G>T)
c.606G>T (p.Lys202Asn)
n.261G>T
c.487-1G>T (n.487-1G>T)
c.428G>T (p.Ser143Ile)
11g.72106056C>ACA381717571LRRC51,LRTOMT,TOMTc.105C>A (p.Ser35Arg)
c.438-2549C>A (n.438-2549C>A)
c.73C>A (p.Pro25Thr)
c.204C>A (p.Ser68Arg)
c.84C>A (p.Ser28Arg)
c.607C>A (p.Pro203Thr)
n.262C>A
c.487C>A (p.Pro163Thr)
c.429C>A (p.Ser143Arg)
11g.72106056C=CA1981839889LRRC51,LRTOMT,TOMTc.105C= (p.Ser35=)
c.438-2549C= (n.438-2549C=)
c.73C= (p.Pro25=)
c.204C= (p.Ser68=)
c.84C= (p.Ser28=)
c.607C= (p.Pro203=)
n.262C=
c.487C= (p.Pro163=)
c.429C= (p.Ser143=)
11g.72106056C>GCA381717572LRRC51,LRTOMT,TOMTc.105C>G (p.Ser35Arg)
c.438-2549C>G (n.438-2549C>G)
c.73C>G (p.Pro25Ala)
c.204C>G (p.Ser68Arg)
c.84C>G (p.Ser28Arg)
c.607C>G (p.Pro203Ala)
n.262C>G
c.487C>G (p.Pro163Ala)
c.429C>G (p.Ser143Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.72106056C>TCA224374501LRRC51,LRTOMT,TOMTc.105C>T (p.Ser35=)
c.438-2549C>T (n.438-2549C>T)
c.73C>T (p.Pro25Ser)
c.204C>T (p.Ser68=)
c.84C>T (p.Ser28=)
c.607C>T (p.Pro203Ser)
n.262C>T
c.487C>T (p.Pro163Ser)
c.429C>T (p.Ser143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106057C>ACA381717573LRRC51,LRTOMT,TOMTc.106C>A (p.Leu36Ile)
c.438-2548C>A (n.438-2548C>A)
c.74C>A (p.Pro25His)
c.205C>A (p.Leu69Ile)
c.85C>A (p.Leu29Ile)
c.608C>A (p.Pro203His)
n.263C>A
c.488C>A (p.Pro163His)
c.430C>A (p.Leu144Ile)
11g.72106057C=CA1981839890LRRC51,LRTOMT,TOMTc.106C= (p.Leu36=)
c.438-2548C= (n.438-2548C=)
c.74C= (p.Pro25=)
c.205C= (p.Leu69=)
c.85C= (p.Leu29=)
c.608C= (p.Pro203=)
n.263C=
c.488C= (p.Pro163=)
c.430C= (p.Leu144=)
11g.72106057C>GCA381717574LRRC51,LRTOMT,TOMTc.106C>G (p.Leu36Val)
c.438-2548C>G (n.438-2548C>G)
c.74C>G (p.Pro25Arg)
c.205C>G (p.Leu69Val)
c.85C>G (p.Leu29Val)
c.608C>G (p.Pro203Arg)
n.263C>G
c.488C>G (p.Pro163Arg)
c.430C>G (p.Leu144Val)
11g.72106057C>TCA381717575LRRC51,LRTOMT,TOMTc.106C>T (p.Leu36Phe)
c.438-2548C>T (n.438-2548C>T)
c.74C>T (p.Pro25Leu)
c.205C>T (p.Leu69Phe)
c.85C>T (p.Leu29Phe)
c.608C>T (p.Pro203Leu)
n.263C>T
c.488C>T (p.Pro163Leu)
c.430C>T (p.Leu144Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.72106058T>ACA381717577LRRC51,LRTOMT,TOMTc.107T>A (p.Leu36His)
c.438-2547T>A (n.438-2547T>A)
c.75T>A (p.Pro25=)
c.206T>A (p.Leu69His)
c.86T>A (p.Leu29His)
c.609T>A (p.Pro203=)
n.264T>A
c.489T>A (p.Pro163=)
c.431T>A (p.Leu144His)
11g.72106058T>CCA381717578LRRC51,LRTOMT,TOMTc.107T>C (p.Leu36Pro)
c.438-2547T>C (n.438-2547T>C)
c.75T>C (p.Pro25=)
c.206T>C (p.Leu69Pro)
c.86T>C (p.Leu29Pro)
c.609T>C (p.Pro203=)
n.264T>C
c.489T>C (p.Pro163=)
c.431T>C (p.Leu144Pro)
11g.72106058T>GCA381717576LRRC51,LRTOMT,TOMTc.107T>G (p.Leu36Arg)
c.438-2547T>G (n.438-2547T>G)
c.75T>G (p.Pro25=)
c.206T>G (p.Leu69Arg)
c.86T>G (p.Leu29Arg)
c.609T>G (p.Pro203=)
n.264T>G
c.489T>G (p.Pro163=)
c.431T>G (p.Leu144Arg)
11g.72106059C>ACA475864837LRRC51,LRTOMT,TOMTc.108C>A (p.Leu36=)
c.438-2546C>A (n.438-2546C>A)
c.76C>A (p.Pro26Thr)
c.207C>A (p.Leu69=)
c.87C>A (p.Leu29=)
c.610C>A (p.Pro204Thr)
n.265C>A
c.490C>A (p.Pro164Thr)
c.432C>A (p.Leu144=)
11g.72106059C=CA1981839891LRRC51,LRTOMT,TOMTc.108C= (p.Leu36=)
c.438-2546C= (n.438-2546C=)
c.76C= (p.Pro26=)
c.207C= (p.Leu69=)
c.87C= (p.Leu29=)
c.610C= (p.Pro204=)
n.265C=
c.490C= (p.Pro164=)
c.432C= (p.Leu144=)
11g.72106059C>GCA475864838LRRC51,LRTOMT,TOMTc.108C>G (p.Leu36=)
c.438-2546C>G (n.438-2546C>G)
c.76C>G (p.Pro26Ala)
c.207C>G (p.Leu69=)
c.87C>G (p.Leu29=)
c.610C>G (p.Pro204Ala)
n.265C>G
c.490C>G (p.Pro164Ala)
c.432C>G (p.Leu144=)
 dbSNP
11g.72106059C>TCA224374506LRRC51,LRTOMT,TOMTc.108C>T (p.Leu36=)
c.438-2546C>T (n.438-2546C>T)
c.76C>T (p.Pro26Ser)
c.207C>T (p.Leu69=)
c.87C>T (p.Leu29=)
c.610C>T (p.Pro204Ser)
n.265C>T
c.490C>T (p.Pro164Ser)
c.432C>T (p.Leu144=)
 dbSNP COSMIC
11g.72106060C>ACA475864839LRRC51,LRTOMT,TOMTc.109C>A (p.Arg37=)
c.438-2545C>A (n.438-2545C>A)
c.77C>A (p.Pro26Gln)
c.208C>A (p.Arg70=)
c.88C>A (p.Arg30=)
c.611C>A (p.Pro204Gln)
n.266C>A
c.491C>A (p.Pro164Gln)
c.433C>A (p.Arg145=)
11g.72106060C=CA1981839892LRRC51,LRTOMT,TOMTc.109C= (p.Arg37=)
c.438-2545C= (n.438-2545C=)
c.77C= (p.Pro26=)
c.208C= (p.Arg70=)
c.88C= (p.Arg30=)
c.611C= (p.Pro204=)
n.266C=
c.491C= (p.Pro164=)
c.433C= (p.Arg145=)
11g.72106060C>GCA381717580LRRC51,LRTOMT,TOMTc.109C>G (p.Arg37Gly)
c.438-2545C>G (n.438-2545C>G)
c.77C>G (p.Pro26Arg)
c.208C>G (p.Arg70Gly)
c.88C>G (p.Arg30Gly)
c.611C>G (p.Pro204Arg)
n.266C>G
c.491C>G (p.Pro164Arg)
c.433C>G (p.Arg145Gly)
11g.72106060C>TCA381717582LRRC51,LRTOMT,TOMTc.109C>T (p.Arg37Ter)
c.438-2545C>T (n.438-2545C>T)
c.77C>T (p.Pro26Leu)
c.208C>T (p.Arg70Ter)
c.88C>T (p.Arg30Ter)
c.611C>T (p.Pro204Leu)
n.266C>T
c.491C>T (p.Pro164Leu)
c.433C>T (p.Arg145Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.72106061G>ACA10640061LRRC51,LRTOMT,TOMTc.110G>A (p.Arg37Gln)
c.438-2544G>A (n.438-2544G>A)
c.78G>A (p.Pro26=)
c.209G>A (p.Arg70Gln)
c.89G>A (p.Arg30Gln)
c.612G>A (p.Pro204=)
n.267G>A
c.492G>A (p.Pro164=)
c.434G>A (p.Arg145Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106061G>CCA381717585LRRC51,LRTOMT,TOMTc.110G>C (p.Arg37Pro)
c.438-2544G>C (n.438-2544G>C)
c.78G>C (p.Pro26=)
c.209G>C (p.Arg70Pro)
c.89G>C (p.Arg30Pro)
c.612G>C (p.Pro204=)
n.267G>C
c.492G>C (p.Pro164=)
c.434G>C (p.Arg145Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.72106061G=CA1981839893LRRC51,LRTOMT,TOMTc.110G= (p.Arg37=)
c.438-2544G= (n.438-2544G=)
c.78G= (p.Pro26=)
c.209G= (p.Arg70=)
c.89G= (p.Arg30=)
c.612G= (p.Pro204=)
n.267G=
c.492G= (p.Pro164=)
c.434G= (p.Arg145=)
11g.72106061G>TCA381717586LRRC51,LRTOMT,TOMTc.110G>T (p.Arg37Leu)
c.438-2544G>T (n.438-2544G>T)
c.78G>T (p.Pro26=)
c.209G>T (p.Arg70Leu)
c.89G>T (p.Arg30Leu)
c.612G>T (p.Pro204=)
n.267G>T
c.492G>T (p.Pro164=)
c.434G>T (p.Arg145Leu)
 gnomAD v4
11g.72106062A>CCA475864840LRRC51,LRTOMT,TOMTc.111A>C (p.Arg37=)
c.438-2543A>C (n.438-2543A>C)
c.79A>C (p.Arg27=)
c.210A>C (p.Arg70=)
c.90A>C (p.Arg30=)
c.613A>C (p.Arg205=)
n.268A>C
c.493A>C (p.Arg165=)
c.435A>C (p.Arg145=)
11g.72106062A>GCA475864841LRRC51,LRTOMT,TOMTc.111A>G (p.Arg37=)
c.438-2543A>G (n.438-2543A>G)
c.79A>G (p.Arg27Gly)
c.210A>G (p.Arg70=)
c.90A>G (p.Arg30=)
c.613A>G (p.Arg205Gly)
n.268A>G
c.493A>G (p.Arg165Gly)
c.435A>G (p.Arg145=)
11g.72106062A>TCA475864842LRRC51,LRTOMT,TOMTc.111A>T (p.Arg37=)
c.438-2543A>T (n.438-2543A>T)
c.79A>T (p.Arg27Ter)
c.210A>T (p.Arg70=)
c.90A>T (p.Arg30=)
c.613A>T (p.Arg205Ter)
n.268A>T
c.493A>T (p.Arg165Ter)
c.435A>T (p.Arg145=)
11g.72106063G>ACA224374513LRRC51,LRTOMT,TOMTc.112G>A (p.Asp38Asn)
c.438-2542G>A (n.438-2542G>A)
c.80G>A (p.Arg27Lys)
c.211G>A (p.Asp71Asn)
c.91G>A (p.Asp31Asn)
c.614G>A (p.Arg205Lys)
n.269G>A
c.494G>A (p.Arg165Lys)
c.436G>A (p.Asp146Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106063G>CCA381717588LRRC51,LRTOMT,TOMTc.112G>C (p.Asp38His)
c.438-2542G>C (n.438-2542G>C)
c.80G>C (p.Arg27Thr)
c.211G>C (p.Asp71His)
c.91G>C (p.Asp31His)
c.614G>C (p.Arg205Thr)
n.269G>C
c.494G>C (p.Arg165Thr)
c.436G>C (p.Asp146His)
11g.72106063G=CA1981839894LRRC51,LRTOMT,TOMTc.112G= (p.Asp38=)
c.438-2542G= (n.438-2542G=)
c.80G= (p.Arg27=)
c.211G= (p.Asp71=)
c.91G= (p.Asp31=)
c.614G= (p.Arg205=)
n.269G=
c.494G= (p.Arg165=)
c.436G= (p.Asp146=)
11g.72106063G>TCA381717587LRRC51,LRTOMT,TOMTc.112G>T (p.Asp38Tyr)
c.438-2542G>T (n.438-2542G>T)
c.80G>T (p.Arg27Ile)
c.211G>T (p.Asp71Tyr)
c.91G>T (p.Asp31Tyr)
c.614G>T (p.Arg205Ile)
n.269G>T
c.494G>T (p.Arg165Ile)
c.436G>T (p.Asp146Tyr)
 gnomAD v4
11g.72106064A=CA1981839895LRRC51,LRTOMT,TOMTc.113A= (p.Asp38=)
c.438-2541A= (n.438-2541A=)
c.81A= (p.Arg27=)
c.212A= (p.Asp71=)
c.92A= (p.Asp31=)
c.615A= (p.Arg205=)
n.270A=
c.495A= (p.Arg165=)
c.437A= (p.Asp146=)
11g.72106064A>CCA381717589LRRC51,LRTOMT,TOMTc.113A>C (p.Asp38Ala)
c.438-2541A>C (n.438-2541A>C)
c.81A>C (p.Arg27Ser)
c.212A>C (p.Asp71Ala)
c.92A>C (p.Asp31Ala)
c.615A>C (p.Arg205Ser)
n.270A>C
c.495A>C (p.Arg165Ser)
c.437A>C (p.Asp146Ala)
11g.72106064A>GCA381717590LRRC51,LRTOMT,TOMTc.113A>G (p.Asp38Gly)
c.438-2541A>G (n.438-2541A>G)
c.81A>G (p.Arg27=)
c.212A>G (p.Asp71Gly)
c.92A>G (p.Asp31Gly)
c.615A>G (p.Arg205=)
n.270A>G
c.495A>G (p.Arg165=)
c.437A>G (p.Asp146Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.72106064A>TCA381717591LRRC51,LRTOMT,TOMTc.113A>T (p.Asp38Val)
c.438-2541A>T (n.438-2541A>T)
c.81A>T (p.Arg27Ser)
c.212A>T (p.Asp71Val)
c.92A>T (p.Asp31Val)
c.615A>T (p.Arg205Ser)
n.270A>T
c.495A>T (p.Arg165Ser)
c.437A>T (p.Asp146Val)
11g.72106065C>ACA381717592LRRC51,LRTOMT,TOMTc.114C>A (p.Asp38Glu)
c.438-2540C>A (n.438-2540C>A)
c.82C>A (p.Leu28Met)
c.213C>A (p.Asp71Glu)
c.93C>A (p.Asp31Glu)
c.616C>A (p.Leu206Met)
n.271C>A
c.496C>A (p.Leu166Met)
c.438C>A (p.Asp146Glu)
11g.72106065C>GCA381717594LRRC51,LRTOMT,TOMTc.114C>G (p.Asp38Glu)
c.438-2540C>G (n.438-2540C>G)
c.82C>G (p.Leu28Val)
c.213C>G (p.Asp71Glu)
c.93C>G (p.Asp31Glu)
c.616C>G (p.Leu206Val)
n.271C>G
c.496C>G (p.Leu166Val)
c.438C>G (p.Asp146Glu)
11g.72106065C>TCA475864843LRRC51,LRTOMT,TOMTc.114C>T (p.Asp38=)
c.438-2540C>T (n.438-2540C>T)
c.82C>T (p.Leu28=)
c.213C>T (p.Asp71=)
c.93C>T (p.Asp31=)
c.616C>T (p.Leu206=)
n.271C>T
c.496C>T (p.Leu166=)
c.438C>T (p.Asp146=)
 gnomAD v4
11g.72106068_72106071delCA645593695LRRC51,LRTOMT,TOMTc.117_120del (p.Leu40GlnfsTer?)
c.438-2537_438-2534del (n.438-2537_438-2534del)
c.85_88del (p.Pro29SerfsTer?)
c.216_219del (p.Leu73GlnfsTer?)
c.96_99del (p.Leu33GlnfsTer?)
c.619_622del (p.Pro207SerfsTer?)
n.274_277del
c.499_502del (p.Pro167SerfsTer?)
c.441_444del (p.Leu148GlnfsTer?)
 COSMIC
11g.72106066T>ACA381717601LRRC51,LRTOMT,TOMTc.115T>A (p.Cys39Ser)
c.438-2539T>A (n.438-2539T>A)
c.83T>A (p.Leu28Gln)
c.214T>A (p.Cys72Ser)
c.94T>A (p.Cys32Ser)
c.617T>A (p.Leu206Gln)
n.272T>A
c.497T>A (p.Leu166Gln)
c.439T>A (p.Cys147Ser)
11g.72106066T>CCA381717599LRRC51,LRTOMT,TOMTc.115T>C (p.Cys39Arg)
c.438-2539T>C (n.438-2539T>C)
c.83T>C (p.Leu28Pro)
c.214T>C (p.Cys72Arg)
c.94T>C (p.Cys32Arg)
c.617T>C (p.Leu206Pro)
n.272T>C
c.497T>C (p.Leu166Pro)
c.439T>C (p.Cys147Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.72106066T>GCA381717597LRRC51,LRTOMT,TOMTc.115T>G (p.Cys39Gly)
c.438-2539T>G (n.438-2539T>G)
c.83T>G (p.Leu28Arg)
c.214T>G (p.Cys72Gly)
c.94T>G (p.Cys32Gly)
c.617T>G (p.Leu206Arg)
n.272T>G
c.497T>G (p.Leu166Arg)
c.439T>G (p.Cys147Gly)
11g.72106066T=CA1981839896LRRC51,LRTOMT,TOMTc.115T= (p.Cys39=)
c.438-2539T= (n.438-2539T=)
c.83T= (p.Leu28=)
c.214T= (p.Cys72=)
c.94T= (p.Cys32=)
c.617T= (p.Leu206=)
n.272T=
c.497T= (p.Leu166=)
c.439T= (p.Cys147=)
11g.72106067G>ACA6168578LRRC51,LRTOMT,TOMTc.116G>A (p.Cys39Tyr)
c.438-2538G>A (n.438-2538G>A)
c.84G>A (p.Leu28=)
c.215G>A (p.Cys72Tyr)
c.95G>A (p.Cys32Tyr)
c.618G>A (p.Leu206=)
n.273G>A
c.498G>A (p.Leu166=)
c.440G>A (p.Cys147Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106067G>CCA381717604LRRC51,LRTOMT,TOMTc.116G>C (p.Cys39Ser)
c.438-2538G>C (n.438-2538G>C)
c.84G>C (p.Leu28=)
c.215G>C (p.Cys72Ser)
c.95G>C (p.Cys32Ser)
c.618G>C (p.Leu206=)
n.273G>C
c.498G>C (p.Leu166=)
c.440G>C (p.Cys147Ser)
11g.72106067G=CA1981839897LRRC51,LRTOMT,TOMTc.116G= (p.Cys39=)
c.438-2538G= (n.438-2538G=)
c.84G= (p.Leu28=)
c.215G= (p.Cys72=)
c.95G= (p.Cys32=)
c.618G= (p.Leu206=)
n.273G=
c.498G= (p.Leu166=)
c.440G= (p.Cys147=)
11g.72106067G>TCA381717606LRRC51,LRTOMT,TOMTc.116G>T (p.Cys39Phe)
c.438-2538G>T (n.438-2538G>T)
c.84G>T (p.Leu28=)
c.215G>T (p.Cys72Phe)
c.95G>T (p.Cys32Phe)
c.618G>T (p.Leu206=)
n.273G>T
c.498G>T (p.Leu166=)
c.440G>T (p.Cys147Phe)
 dbSNP gnomAD v4
11g.72106068C>ACA381717610LRRC51,LRTOMT,TOMTc.117C>A (p.Cys39Ter)
c.438-2537C>A (n.438-2537C>A)
c.85C>A (p.Pro29Thr)
c.216C>A (p.Cys72Ter)
c.96C>A (p.Cys32Ter)
c.619C>A (p.Pro207Thr)
n.274C>A
c.499C>A (p.Pro167Thr)
c.441C>A (p.Cys147Ter)
11g.72106068C>GCA381717611LRRC51,LRTOMT,TOMTc.117C>G (p.Cys39Trp)
c.438-2537C>G (n.438-2537C>G)
c.85C>G (p.Pro29Ala)
c.216C>G (p.Cys72Trp)
c.96C>G (p.Cys32Trp)
c.619C>G (p.Pro207Ala)
n.274C>G
c.499C>G (p.Pro167Ala)
c.441C>G (p.Cys147Trp)
11g.72106068C>TCA475864844LRRC51,LRTOMT,TOMTc.117C>T (p.Cys39=)
c.438-2537C>T (n.438-2537C>T)
c.85C>T (p.Pro29Ser)
c.216C>T (p.Cys72=)
c.96C>T (p.Cys32=)
c.619C>T (p.Pro207Ser)
n.274C>T
c.499C>T (p.Pro167Ser)
c.441C>T (p.Cys147=)
11g.72106069C>ACA381717614LRRC51,LRTOMT,TOMTc.118C>A (p.Leu40Met)
c.438-2536C>A (n.438-2536C>A)
c.86C>A (p.Pro29His)
c.217C>A (p.Leu73Met)
c.97C>A (p.Leu33Met)
c.620C>A (p.Pro207His)
n.275C>A
c.500C>A (p.Pro167His)
c.442C>A (p.Leu148Met)
 gnomAD v4
11g.72106069C>GCA381717615LRRC51,LRTOMT,TOMTc.118C>G (p.Leu40Val)
c.438-2536C>G (n.438-2536C>G)
c.86C>G (p.Pro29Arg)
c.217C>G (p.Leu73Val)
c.97C>G (p.Leu33Val)
c.620C>G (p.Pro207Arg)
n.275C>G
c.500C>G (p.Pro167Arg)
c.442C>G (p.Leu148Val)
11g.72106069C>TCA475864845LRRC51,LRTOMT,TOMTc.118C>T (p.Leu40=)
c.438-2536C>T (n.438-2536C>T)
c.86C>T (p.Pro29Leu)
c.217C>T (p.Leu73=)
c.97C>T (p.Leu33=)
c.620C>T (p.Pro207Leu)
n.275C>T
c.500C>T (p.Pro167Leu)
c.442C>T (p.Leu148=)
11g.72106070T>ACA381717618LRRC51,LRTOMT,TOMTc.119T>A (p.Leu40Gln)
c.438-2535T>A (n.438-2535T>A)
c.87T>A (p.Pro29=)
c.218T>A (p.Leu73Gln)
c.98T>A (p.Leu33Gln)
c.621T>A (p.Pro207=)
n.276T>A
c.501T>A (p.Pro167=)
c.443T>A (p.Leu148Gln)
11g.72106070T>CCA381717620LRRC51,LRTOMT,TOMTc.119T>C (p.Leu40Pro)
c.438-2535T>C (n.438-2535T>C)
c.87T>C (p.Pro29=)
c.218T>C (p.Leu73Pro)
c.98T>C (p.Leu33Pro)
c.621T>C (p.Pro207=)
n.276T>C
c.501T>C (p.Pro167=)
c.443T>C (p.Leu148Pro)
 gnomAD v4
11g.72106070T>GCA381717621LRRC51,LRTOMT,TOMTc.119T>G (p.Leu40Arg)
c.438-2535T>G (n.438-2535T>G)
c.87T>G (p.Pro29=)
c.218T>G (p.Leu73Arg)
c.98T>G (p.Leu33Arg)
c.621T>G (p.Pro207=)
n.276T>G
c.501T>G (p.Pro167=)
c.443T>G (p.Leu148Arg)
11g.72106071G>ACA475864846LRRC51,LRTOMT,TOMTc.120G>A (p.Leu40=)
c.438-2534G>A (n.438-2534G>A)
c.88G>A (p.Val30Ile)
c.219G>A (p.Leu73=)
c.99G>A (p.Leu33=)
c.622G>A (p.Val208Ile)
n.277G>A
c.502G>A (p.Val168Ile)
c.444G>A (p.Leu148=)
 dbSNP gnomAD v2 gnomAD v4
11g.72106071G>CCA475864847LRRC51,LRTOMT,TOMTc.120G>C (p.Leu40=)
c.438-2534G>C (n.438-2534G>C)
c.88G>C (p.Val30Leu)
c.219G>C (p.Leu73=)
c.99G>C (p.Leu33=)
c.622G>C (p.Val208Leu)
n.277G>C
c.502G>C (p.Val168Leu)
c.444G>C (p.Leu148=)
 gnomAD v4
11g.72106071G=CA1981839898LRRC51,LRTOMT,TOMTc.120G= (p.Leu40=)
c.438-2534G= (n.438-2534G=)
c.88G= (p.Val30=)
c.219G= (p.Leu73=)
c.99G= (p.Leu33=)
c.622G= (p.Val208=)
n.277G=
c.502G= (p.Val168=)
c.444G= (p.Leu148=)
11g.72106071G>TCA475864848LRRC51,LRTOMT,TOMTc.120G>T (p.Leu40=)
c.438-2534G>T (n.438-2534G>T)
c.88G>T (p.Val30Phe)
c.219G>T (p.Leu73=)
c.99G>T (p.Leu33=)
c.622G>T (p.Val208Phe)
n.277G>T
c.502G>T (p.Val168Phe)
c.444G>T (p.Leu148=)
11g.72106072T>ACA381717624LRRC51,LRTOMT,TOMTc.121T>A (p.Ser41Thr)
c.438-2533T>A (n.438-2533T>A)
c.89T>A (p.Val30Asp)
c.220T>A (p.Ser74Thr)
c.100T>A (p.Ser34Thr)
c.623T>A (p.Val208Asp)
n.278T>A
c.503T>A (p.Val168Asp)
c.445T>A (p.Ser149Thr)
11g.72106072T>CCA381717627LRRC51,LRTOMT,TOMTc.121T>C (p.Ser41Pro)
c.438-2533T>C (n.438-2533T>C)
c.89T>C (p.Val30Ala)
c.220T>C (p.Ser74Pro)
c.100T>C (p.Ser34Pro)
c.623T>C (p.Val208Ala)
n.278T>C
c.503T>C (p.Val168Ala)
c.445T>C (p.Ser149Pro)
11g.72106072T>GCA381717625LRRC51,LRTOMT,TOMTc.121T>G (p.Ser41Ala)
c.438-2533T>G (n.438-2533T>G)
c.89T>G (p.Val30Gly)
c.220T>G (p.Ser74Ala)
c.100T>G (p.Ser34Ala)
c.623T>G (p.Val208Gly)
n.278T>G
c.503T>G (p.Val168Gly)
c.445T>G (p.Ser149Ala)
11g.72106073C>ACA381717630LRRC51,LRTOMT,TOMTc.122C>A (p.Ser41Ter)
c.438-2532C>A (n.438-2532C>A)
c.90C>A (p.Val30=)
c.221C>A (p.Ser74Ter)
c.101C>A (p.Ser34Ter)
c.624C>A (p.Val208=)
n.279C>A
c.504C>A (p.Val168=)
c.446C>A (p.Ser149Ter)
11g.72106073C>GCA381717632LRRC51,LRTOMT,TOMTc.122C>G (p.Ser41Ter)
c.438-2532C>G (n.438-2532C>G)
c.90C>G (p.Val30=)
c.221C>G (p.Ser74Ter)
c.101C>G (p.Ser34Ter)
c.624C>G (p.Val208=)
n.279C>G
c.504C>G (p.Val168=)
c.446C>G (p.Ser149Ter)
 gnomAD v4
11g.72106073C>TCA381717633LRRC51,LRTOMT,TOMTc.122C>T (p.Ser41Leu)
c.438-2532C>T (n.438-2532C>T)
c.90C>T (p.Val30=)
c.221C>T (p.Ser74Leu)
c.101C>T (p.Ser34Leu)
c.624C>T (p.Val208=)
n.279C>T
c.504C>T (p.Val168=)
c.446C>T (p.Ser149Leu)
 gnomAD v4
11g.72106074A=CA1981839899LRRC51,LRTOMT,TOMTc.123A= (p.Ser41=)
c.438-2531A= (n.438-2531A=)
c.91A= (p.Arg31=)
c.222A= (p.Ser74=)
c.102A= (p.Ser34=)
c.625A= (p.Arg209=)
n.280A=
c.505A= (p.Arg169=)
c.447A= (p.Ser149=)
11g.72106074A>CCA475864850LRRC51,LRTOMT,TOMTc.123A>C (p.Ser41=)
c.438-2531A>C (n.438-2531A>C)
c.91A>C (p.Arg31=)
c.222A>C (p.Ser74=)
c.102A>C (p.Ser34=)
c.625A>C (p.Arg209=)
n.280A>C
c.505A>C (p.Arg169=)
c.447A>C (p.Ser149=)
 gnomAD v4
11g.72106074A>GCA133442LRRC51,LRTOMT,TOMTc.123A>G (p.Ser41=)
c.438-2531A>G (n.438-2531A>G)
c.91A>G (p.Arg31Gly)
c.222A>G (p.Ser74=)
c.102A>G (p.Ser34=)
c.625A>G (p.Arg209Gly)
n.280A>G
c.505A>G (p.Arg169Gly)
c.447A>G (p.Ser149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106074A>TCA475864849LRRC51,LRTOMT,TOMTc.123A>T (p.Ser41=)
c.438-2531A>T (n.438-2531A>T)
c.91A>T (p.Arg31Trp)
c.222A>T (p.Ser74=)
c.102A>T (p.Ser34=)
c.625A>T (p.Arg209Trp)
n.280A>T
c.505A>T (p.Arg169Trp)
c.447A>T (p.Ser149=)
11g.72106075G>ACA381717640LRRC51,LRTOMT,TOMTc.124G>A (p.Gly42Arg)
c.438-2530G>A (n.438-2530G>A)
c.92G>A (p.Arg31Lys)
c.223G>A (p.Gly75Arg)
c.103G>A (p.Gly35Arg)
c.626G>A (p.Arg209Lys)
n.281G>A
c.506G>A (p.Arg169Lys)
c.448G>A (p.Gly150Arg)
11g.72106075G>CCA381717643LRRC51,LRTOMT,TOMTc.124G>C (p.Gly42Arg)
c.438-2530G>C (n.438-2530G>C)
c.92G>C (p.Arg31Thr)
c.223G>C (p.Gly75Arg)
c.103G>C (p.Gly35Arg)
c.626G>C (p.Arg209Thr)
n.281G>C
c.506G>C (p.Arg169Thr)
c.448G>C (p.Gly150Arg)
11g.72106075G>TCA381717641LRRC51,LRTOMT,TOMTc.124G>T (p.Gly42Trp)
c.438-2530G>T (n.438-2530G>T)
c.92G>T (p.Arg31Met)
c.223G>T (p.Gly75Trp)
c.103G>T (p.Gly35Trp)
c.626G>T (p.Arg209Met)
n.281G>T
c.506G>T (p.Arg169Met)
c.448G>T (p.Gly150Trp)
11g.72106076G>ACA381717645LRRC51,LRTOMT,TOMTc.125G>A (p.Gly42Glu)
c.438-2529G>A (n.438-2529G>A)
c.93G>A (p.Arg31=)
c.224G>A (p.Gly75Glu)
c.104G>A (p.Gly35Glu)
c.627G>A (p.Arg209=)
n.282G>A
c.507G>A (p.Arg169=)
c.449G>A (p.Gly150Glu)
11g.72106076G>CCA381717647LRRC51,LRTOMT,TOMTc.125G>C (p.Gly42Ala)
c.438-2529G>C (n.438-2529G>C)
c.93G>C (p.Arg31Ser)
c.224G>C (p.Gly75Ala)
c.104G>C (p.Gly35Ala)
c.627G>C (p.Arg209Ser)
n.282G>C
c.507G>C (p.Arg169Ser)
c.449G>C (p.Gly150Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.72106076G=CA1981839900LRRC51,LRTOMT,TOMTc.125G= (p.Gly42=)
c.438-2529G= (n.438-2529G=)
c.93G= (p.Arg31=)
c.224G= (p.Gly75=)
c.104G= (p.Gly35=)
c.627G= (p.Arg209=)
n.282G=
c.507G= (p.Arg169=)
c.449G= (p.Gly150=)
11g.72106076G>TCA381717649LRRC51,LRTOMT,TOMTc.125G>T (p.Gly42Val)
c.438-2529G>T (n.438-2529G>T)
c.93G>T (p.Arg31Ser)
c.224G>T (p.Gly75Val)
c.104G>T (p.Gly35Val)
c.627G>T (p.Arg209Ser)
n.282G>T
c.507G>T (p.Arg169Ser)
c.449G>T (p.Gly150Val)
11g.72106077G>ACA475864851LRRC51,LRTOMT,TOMTc.126G>A (p.Gly42=)
c.438-2528G>A (n.438-2528G>A)
c.94G>A (p.Ala32Thr)
c.225G>A (p.Gly75=)
c.105G>A (p.Gly35=)
c.628G>A (p.Ala210Thr)
n.283G>A
c.508G>A (p.Ala170Thr)
c.450G>A (p.Gly150=)
11g.72106077G>CCA475864852LRRC51,LRTOMT,TOMTc.126G>C (p.Gly42=)
c.438-2528G>C (n.438-2528G>C)
c.94G>C (p.Ala32Pro)
c.225G>C (p.Gly75=)
c.105G>C (p.Gly35=)
c.628G>C (p.Ala210Pro)
n.283G>C
c.508G>C (p.Ala170Pro)
c.450G>C (p.Gly150=)
11g.72106077G>TCA475864853LRRC51,LRTOMT,TOMTc.126G>T (p.Gly42=)
c.438-2528G>T (n.438-2528G>T)
c.94G>T (p.Ala32Ser)
c.225G>T (p.Gly75=)
c.105G>T (p.Gly35=)
c.628G>T (p.Ala210Ser)
n.283G>T
c.508G>T (p.Ala170Ser)
c.450G>T (p.Gly150=)
 gnomAD v4
11g.72106078C>ACA381717652LRRC51,LRTOMT,TOMTc.127C>A (p.Leu43Met)
c.438-2527C>A (n.438-2527C>A)
c.95C>A (p.Ala32Asp)
c.226C>A (p.Leu76Met)
c.106C>A (p.Leu36Met)
c.629C>A (p.Ala210Asp)
n.284C>A
c.509C>A (p.Ala170Asp)
c.451C>A (p.Leu151Met)
11g.72106078C>GCA381717654LRRC51,LRTOMT,TOMTc.127C>G (p.Leu43Val)
c.438-2527C>G (n.438-2527C>G)
c.95C>G (p.Ala32Gly)
c.226C>G (p.Leu76Val)
c.106C>G (p.Leu36Val)
c.629C>G (p.Ala210Gly)
n.284C>G
c.509C>G (p.Ala170Gly)
c.451C>G (p.Leu151Val)
11g.72106078C>TCA475864854LRRC51,LRTOMT,TOMTc.127C>T (p.Leu43=)
c.438-2527C>T (n.438-2527C>T)
c.95C>T (p.Ala32Val)
c.226C>T (p.Leu76=)
c.106C>T (p.Leu36=)
c.629C>T (p.Ala210Val)
n.284C>T
c.509C>T (p.Ala170Val)
c.451C>T (p.Leu151=)
11g.72106079T>ACA381717655LRRC51,LRTOMT,TOMTc.128T>A (p.Leu43Gln)
c.438-2526T>A (n.438-2526T>A)
c.96T>A (p.Ala32=)
c.227T>A (p.Leu76Gln)
c.107T>A (p.Leu36Gln)
c.630T>A (p.Ala210=)
n.285T>A
c.510T>A (p.Ala170=)
c.452T>A (p.Leu151Gln)
11g.72106079T>CCA381717658LRRC51,LRTOMT,TOMTc.128T>C (p.Leu43Pro)
c.438-2526T>C (n.438-2526T>C)
c.96T>C (p.Ala32=)
c.227T>C (p.Leu76Pro)
c.107T>C (p.Leu36Pro)
c.630T>C (p.Ala210=)
n.285T>C
c.510T>C (p.Ala170=)
c.452T>C (p.Leu151Pro)
 gnomAD v4
11g.72106079T>GCA381717659LRRC51,LRTOMT,TOMTc.128T>G (p.Leu43Arg)
c.438-2526T>G (n.438-2526T>G)
c.96T>G (p.Ala32=)
c.227T>G (p.Leu76Arg)
c.107T>G (p.Leu36Arg)
c.630T>G (p.Ala210=)
n.285T>G
c.510T>G (p.Ala170=)
c.452T>G (p.Leu151Arg)
11g.72106080G>ACA475864855LRRC51,LRTOMT,TOMTc.129G>A (p.Leu43=)
c.438-2525G>A (n.438-2525G>A)
c.97G>A (p.Ala33Thr)
c.228G>A (p.Leu76=)
c.108G>A (p.Leu36=)
c.631G>A (p.Ala211Thr)
n.286G>A
c.511G>A (p.Ala171Thr)
c.453G>A (p.Leu151=)
11g.72106080G>CCA475864856LRRC51,LRTOMT,TOMTc.129G>C (p.Leu43=)
c.438-2525G>C (n.438-2525G>C)
c.97G>C (p.Ala33Pro)
c.228G>C (p.Leu76=)
c.108G>C (p.Leu36=)
c.631G>C (p.Ala211Pro)
n.286G>C
c.511G>C (p.Ala171Pro)
c.453G>C (p.Leu151=)
11g.72106080G>TCA475864857LRRC51,LRTOMT,TOMTc.129G>T (p.Leu43=)
c.438-2525G>T (n.438-2525G>T)
c.97G>T (p.Ala33Ser)
c.228G>T (p.Leu76=)
c.108G>T (p.Leu36=)
c.631G>T (p.Ala211Ser)
n.286G>T
c.511G>T (p.Ala171Ser)
c.453G>T (p.Leu151=)
 gnomAD v4
11g.72106081C>ACA475864858LRRC51,LRTOMT,TOMTc.130C>A (p.Arg44=)
c.438-2524C>A (n.438-2524C>A)
c.98C>A (p.Ala33Glu)
c.229C>A (p.Arg77=)
c.109C>A (p.Arg37=)
c.632C>A (p.Ala211Glu)
n.287C>A
c.512C>A (p.Ala171Glu)
c.454C>A (p.Arg152=)
11g.72106081C=CA1981839901LRRC51,LRTOMT,TOMTc.130C= (p.Arg44=)
c.438-2524C= (n.438-2524C=)
c.98C= (p.Ala33=)
c.229C= (p.Arg77=)
c.109C= (p.Arg37=)
c.632C= (p.Ala211=)
n.287C=
c.512C= (p.Ala171=)
c.454C= (p.Arg152=)
11g.72106081C>GCA381717662LRRC51,LRTOMT,TOMTc.130C>G (p.Arg44Gly)
c.438-2524C>G (n.438-2524C>G)
c.98C>G (p.Ala33Gly)
c.229C>G (p.Arg77Gly)
c.109C>G (p.Arg37Gly)
c.632C>G (p.Ala211Gly)
n.287C>G
c.512C>G (p.Ala171Gly)
c.454C>G (p.Arg152Gly)
11g.72106081C>TCA6168579LRRC51,LRTOMT,TOMTc.130C>T (p.Arg44Trp)
c.438-2524C>T (n.438-2524C>T)
c.98C>T (p.Ala33Val)
c.229C>T (p.Arg77Trp)
c.109C>T (p.Arg37Trp)
c.632C>T (p.Ala211Val)
n.287C>T
c.512C>T (p.Ala171Val)
c.454C>T (p.Arg152Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106082G>ACA6168580LRRC51,LRTOMT,TOMTc.131G>A (p.Arg44Gln)
c.438-2523G>A (n.438-2523G>A)
c.99G>A (p.Ala33=)
c.230G>A (p.Arg77Gln)
c.110G>A (p.Arg37Gln)
c.633G>A (p.Ala211=)
n.288G>A
c.513G>A (p.Ala171=)
c.455G>A (p.Arg152Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106082G>CCA381717670LRRC51,LRTOMT,TOMTc.131G>C (p.Arg44Pro)
c.438-2523G>C (n.438-2523G>C)
c.99G>C (p.Ala33=)
c.230G>C (p.Arg77Pro)
c.110G>C (p.Arg37Pro)
c.633G>C (p.Ala211=)
n.288G>C
c.513G>C (p.Ala171=)
c.455G>C (p.Arg152Pro)
 gnomAD v4
11g.72106082G=CA1981839902LRRC51,LRTOMT,TOMTc.131G= (p.Arg44=)
c.438-2523G= (n.438-2523G=)
c.99G= (p.Ala33=)
c.230G= (p.Arg77=)
c.110G= (p.Arg37=)
c.633G= (p.Ala211=)
n.288G=
c.513G= (p.Ala171=)
c.455G= (p.Arg152=)
11g.72106082G>TCA381717667LRRC51,LRTOMT,TOMTc.131G>T (p.Arg44Leu)
c.438-2523G>T (n.438-2523G>T)
c.99G>T (p.Ala33=)
c.230G>T (p.Arg77Leu)
c.110G>T (p.Arg37Leu)
c.633G>T (p.Ala211=)
n.288G>T
c.513G>T (p.Ala171=)
c.455G>T (p.Arg152Leu)
 gnomAD v4
11g.72106083G>ACA475864859LRRC51,LRTOMT,TOMTc.132G>A (p.Arg44=)
c.438-2522G>A (n.438-2522G>A)
c.100G>A (p.Asp34Asn)
c.231G>A (p.Arg77=)
c.111G>A (p.Arg37=)
c.634G>A (p.Asp212Asn)
n.289G>A
c.514G>A (p.Asp172Asn)
c.456G>A (p.Arg152=)
11g.72106083G>CCA475864860LRRC51,LRTOMT,TOMTc.132G>C (p.Arg44=)
c.438-2522G>C (n.438-2522G>C)
c.100G>C (p.Asp34His)
c.231G>C (p.Arg77=)
c.111G>C (p.Arg37=)
c.634G>C (p.Asp212His)
n.289G>C
c.514G>C (p.Asp172His)
c.456G>C (p.Arg152=)
11g.72106083G>TCA475864861LRRC51,LRTOMT,TOMTc.132G>T (p.Arg44=)
c.438-2522G>T (n.438-2522G>T)
c.100G>T (p.Asp34Tyr)
c.231G>T (p.Arg77=)
c.111G>T (p.Arg37=)
c.634G>T (p.Asp212Tyr)
n.289G>T
c.514G>T (p.Asp172Tyr)
c.456G>T (p.Arg152=)
 gnomAD v4
11g.72106084delCA2614917526LRRC51,LRTOMT,TOMTc.133del (p.Ile45SerfsTer?)
c.438-2521del (n.438-2521del)
c.101del (p.Asp34ValfsTer?)
c.232del (p.Ile78SerfsTer?)
c.112del (p.Ile38SerfsTer?)
c.635del (p.Asp212ValfsTer?)
n.290del
c.515del (p.Asp172ValfsTer?)
c.457del (p.Ile153SerfsTer?)
 gnomAD v4
11g.72106084A=CA1981839903LRRC51,LRTOMT,TOMTc.133A= (p.Ile45=)
c.438-2521A= (n.438-2521A=)
c.101A= (p.Asp34=)
c.232A= (p.Ile78=)
c.112A= (p.Ile38=)
c.635A= (p.Asp212=)
n.290A=
c.515A= (p.Asp172=)
c.457A= (p.Ile153=)
11g.72106084A>CCA381717675LRRC51,LRTOMT,TOMTc.133A>C (p.Ile45Leu)
c.438-2521A>C (n.438-2521A>C)
c.101A>C (p.Asp34Ala)
c.232A>C (p.Ile78Leu)
c.112A>C (p.Ile38Leu)
c.635A>C (p.Asp212Ala)
n.290A>C
c.515A>C (p.Asp172Ala)
c.457A>C (p.Ile153Leu)
11g.72106084A>GCA381717677LRRC51,LRTOMT,TOMTc.133A>G (p.Ile45Val)
c.438-2521A>G (n.438-2521A>G)
c.101A>G (p.Asp34Gly)
c.232A>G (p.Ile78Val)
c.112A>G (p.Ile38Val)
c.635A>G (p.Asp212Gly)
n.290A>G
c.515A>G (p.Asp172Gly)
c.457A>G (p.Ile153Val)
11g.72106084A>TCA381717680LRRC51,LRTOMT,TOMTc.133A>T (p.Ile45Phe)
c.438-2521A>T (n.438-2521A>T)
c.101A>T (p.Asp34Val)
c.232A>T (p.Ile78Phe)
c.112A>T (p.Ile38Phe)
c.635A>T (p.Asp212Val)
n.290A>T
c.515A>T (p.Asp172Val)
c.457A>T (p.Ile153Phe)
 dbSNP gnomAD v4
11g.72106085T>ACA381717683LRRC51,LRTOMT,TOMTc.134T>A (p.Ile45Asn)
c.438-2520T>A (n.438-2520T>A)
c.102T>A (p.Asp34Glu)
c.233T>A (p.Ile78Asn)
c.113T>A (p.Ile38Asn)
c.636T>A (p.Asp212Glu)
n.291T>A
c.516T>A (p.Asp172Glu)
c.458T>A (p.Ile153Asn)
11g.72106085T>CCA381717685LRRC51,LRTOMT,TOMTc.134T>C (p.Ile45Thr)
c.438-2520T>C (n.438-2520T>C)
c.102T>C (p.Asp34=)
c.233T>C (p.Ile78Thr)
c.113T>C (p.Ile38Thr)
c.636T>C (p.Asp212=)
n.291T>C
c.516T>C (p.Asp172=)
c.458T>C (p.Ile153Thr)
11g.72106085T>GCA381717692LRRC51,LRTOMT,TOMTc.134T>G (p.Ile45Ser)
c.438-2520T>G (n.438-2520T>G)
c.102T>G (p.Asp34Glu)
c.233T>G (p.Ile78Ser)
c.113T>G (p.Ile38Ser)
c.636T>G (p.Asp212Glu)
n.291T>G
c.516T>G (p.Asp172Glu)
c.458T>G (p.Ile153Ser)
11g.72106086C>ACA6168581LRRC51,LRTOMT,TOMTc.135C>A (p.Ile45=)
c.438-2519C>A (n.438-2519C>A)
c.103C>A (p.Arg35=)
c.234C>A (p.Ile78=)
c.114C>A (p.Ile38=)
c.637C>A (p.Arg213=)
n.292C>A
c.517C>A (p.Arg173=)
c.459C>A (p.Ile153=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106086C=CA1981839904LRRC51,LRTOMT,TOMTc.135C= (p.Ile45=)
c.438-2519C= (n.438-2519C=)
c.103C= (p.Arg35=)
c.234C= (p.Ile78=)
c.114C= (p.Ile38=)
c.637C= (p.Arg213=)
n.292C=
c.517C= (p.Arg173=)
c.459C= (p.Ile153=)
11g.72106086C>GCA381717696LRRC51,LRTOMT,TOMTc.135C>G (p.Ile45Met)
c.438-2519C>G (n.438-2519C>G)
c.103C>G (p.Arg35Gly)
c.234C>G (p.Ile78Met)
c.114C>G (p.Ile38Met)
c.637C>G (p.Arg213Gly)
n.292C>G
c.517C>G (p.Arg173Gly)
c.459C>G (p.Ile153Met)
 gnomAD v4
11g.72106086C>TCA475864862LRRC51,LRTOMT,TOMTc.135C>T (p.Ile45=)
c.438-2519C>T (n.438-2519C>T)
c.103C>T (p.Arg35Ter)
c.234C>T (p.Ile78=)
c.114C>T (p.Ile38=)
c.637C>T (p.Arg213Ter)
n.292C>T
c.517C>T (p.Arg173Ter)
c.459C>T (p.Ile153=)
 gnomAD v4
11g.72106087G>ACA6168582LRRC51,LRTOMT,TOMTc.136G>A (p.Glu46Lys)
c.438-2518G>A (n.438-2518G>A)
c.104G>A (p.Arg35Gln)
c.235G>A (p.Glu79Lys)
c.115G>A (p.Glu39Lys)
c.638G>A (p.Arg213Gln)
n.293G>A
c.518G>A (p.Arg173Gln)
c.460G>A (p.Glu154Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72106087G>CCA381717700LRRC51,LRTOMT,TOMTc.136G>C (p.Glu46Gln)
c.438-2518G>C (n.438-2518G>C)
c.104G>C (p.Arg35Pro)
c.235G>C (p.Glu79Gln)
c.115G>C (p.Glu39Gln)
c.638G>C (p.Arg213Pro)
n.293G>C
c.518G>C (p.Arg173Pro)
c.460G>C (p.Glu154Gln)
11g.72106087G=CA1981839905LRRC51,LRTOMT,TOMTc.136G= (p.Glu46=)
c.438-2518G= (n.438-2518G=)
c.104G= (p.Arg35=)
c.235G= (p.Glu79=)
c.115G= (p.Glu39=)
c.638G= (p.Arg213=)
n.293G=
c.518G= (p.Arg173=)
c.460G= (p.Glu154=)
11g.72106087G>TCA381717702LRRC51,LRTOMT,TOMTc.136G>T (p.Glu46Ter)
c.438-2518G>T (n.438-2518G>T)
c.104G>T (p.Arg35Leu)
c.235G>T (p.Glu79Ter)
c.115G>T (p.Glu39Ter)
c.638G>T (p.Arg213Leu)
n.293G>T
c.518G>T (p.Arg173Leu)
c.460G>T (p.Glu154Ter)
 gnomAD v4
11g.72106088A>CCA381717705LRRC51,LRTOMT,TOMTc.137A>C (p.Glu46Ala)
c.438-2517A>C (n.438-2517A>C)
c.105A>C (p.Arg35=)
c.236A>C (p.Glu79Ala)
c.116A>C (p.Glu39Ala)
c.639A>C (p.Arg213=)
n.294A>C
c.519A>C (p.Arg173=)
c.461A>C (p.Glu154Ala)
11g.72106088A>GCA381717706LRRC51,LRTOMT,TOMTc.137A>G (p.Glu46Gly)
c.438-2517A>G (n.438-2517A>G)
c.105A>G (p.Arg35=)
c.236A>G (p.Glu79Gly)
c.116A>G (p.Glu39Gly)
c.639A>G (p.Arg213=)
n.294A>G
c.519A>G (p.Arg173=)
c.461A>G (p.Glu154Gly)
11g.72106088A>TCA381717709LRRC51,LRTOMT,TOMTc.137A>T (p.Glu46Val)
c.438-2517A>T (n.438-2517A>T)
c.105A>T (p.Arg35=)
c.236A>T (p.Glu79Val)
c.116A>T (p.Glu39Val)
c.639A>T (p.Arg213=)
n.294A>T
c.519A>T (p.Arg173=)
c.461A>T (p.Glu154Val)
11g.72106089G>ACA475864863LRRC51,LRTOMT,TOMTc.138G>A (p.Glu46=)
c.438-2516G>A (n.438-2516G>A)
c.106G>A (p.Gly36Arg)
c.237G>A (p.Glu79=)
c.117G>A (p.Glu39=)
c.640G>A (p.Gly214Arg)
n.295G>A
c.520G>A (p.Gly174Arg)
c.462G>A (p.Glu154=)
11g.72106089G>CCA381717712LRRC51,LRTOMT,TOMTc.138G>C (p.Glu46Asp)
c.438-2516G>C (n.438-2516G>C)
c.106G>C (p.Gly36Arg)
c.237G>C (p.Glu79Asp)
c.117G>C (p.Glu39Asp)
c.640G>C (p.Gly214Arg)
n.295G>C
c.520G>C (p.Gly174Arg)
c.462G>C (p.Glu154Asp)
11g.72106089G>TCA381717714LRRC51,LRTOMT,TOMTc.138G>T (p.Glu46Asp)
c.438-2516G>T (n.438-2516G>T)
c.106G>T (p.Gly36Ter)
c.237G>T (p.Glu79Asp)
c.117G>T (p.Glu39Asp)
c.640G>T (p.Gly214Ter)
n.295G>T
c.520G>T (p.Gly174Ter)
c.462G>T (p.Glu154Asp)
 gnomAD v4
11g.72106090G>ACA381717717LRRC51,LRTOMT,TOMTc.139G>A (p.Glu47Lys)
c.438-2515G>A (n.438-2515G>A)
c.107G>A (p.Gly36Glu)
c.238G>A (p.Glu80Lys)
c.118G>A (p.Glu40Lys)
c.641G>A (p.Gly214Glu)
n.296G>A
c.521G>A (p.Gly174Glu)
c.463G>A (p.Glu155Lys)
11g.72106090G>CCA381717719LRRC51,LRTOMT,TOMTc.139G>C (p.Glu47Gln)
c.438-2515G>C (n.438-2515G>C)
c.107G>C (p.Gly36Ala)
c.238G>C (p.Glu80Gln)
c.118G>C (p.Glu40Gln)
c.641G>C (p.Gly214Ala)
n.296G>C
c.521G>C (p.Gly174Ala)
c.463G>C (p.Glu155Gln)
11g.72106090G>TCA381717721LRRC51,LRTOMT,TOMTc.139G>T (p.Glu47Ter)
c.438-2515G>T (n.438-2515G>T)
c.107G>T (p.Gly36Val)
c.238G>T (p.Glu80Ter)
c.118G>T (p.Glu40Ter)
c.641G>T (p.Gly214Val)
n.296G>T
c.521G>T (p.Gly174Val)
c.463G>T (p.Glu155Ter)
 gnomAD v4
11g.72106091A>CCA381717724LRRC51,LRTOMT,TOMTc.140A>C (p.Glu47Ala)
c.438-2514A>C (n.438-2514A>C)
c.108A>C (p.Gly36=)
c.239A>C (p.Glu80Ala)
c.119A>C (p.Glu40Ala)
c.642A>C (p.Gly214=)
n.297A>C
c.522A>C (p.Gly174=)
c.464A>C (p.Glu155Ala)
11g.72106091A>GCA381717726LRRC51,LRTOMT,TOMTc.140A>G (p.Glu47Gly)
c.438-2514A>G (n.438-2514A>G)
c.108A>G (p.Gly36=)
c.239A>G (p.Glu80Gly)
c.119A>G (p.Glu40Gly)
c.642A>G (p.Gly214=)
n.297A>G
c.522A>G (p.Gly174=)
c.464A>G (p.Glu155Gly)
11g.72106091A>TCA381717728LRRC51,LRTOMT,TOMTc.140A>T (p.Glu47Val)
c.438-2514A>T (n.438-2514A>T)
c.108A>T (p.Gly36=)
c.239A>T (p.Glu80Val)
c.119A>T (p.Glu40Val)
c.642A>T (p.Gly214=)
n.297A>T
c.522A>T (p.Gly174=)
c.464A>T (p.Glu155Val)
11g.72106092G>ACA475864864LRRC51,LRTOMT,TOMTc.141G>A (p.Glu47=)
c.438-2513G>A (n.438-2513G>A)
c.109G>A (p.Ala37Thr)
c.240G>A (p.Glu80=)
c.120G>A (p.Glu40=)
c.643G>A (p.Ala215Thr)
n.298G>A
c.523G>A (p.Ala175Thr)
c.465G>A (p.Glu155=)
11g.72106092G>CCA381717731LRRC51,LRTOMT,TOMTc.141G>C (p.Glu47Asp)
c.438-2513G>C (n.438-2513G>C)
c.109G>C (p.Ala37Pro)
c.240G>C (p.Glu80Asp)
c.120G>C (p.Glu40Asp)
c.643G>C (p.Ala215Pro)
n.298G>C
c.523G>C (p.Ala175Pro)
c.465G>C (p.Glu155Asp)
11g.72106092G>TCA381717733LRRC51,LRTOMT,TOMTc.141G>T (p.Glu47Asp)
c.438-2513G>T (n.438-2513G>T)
c.109G>T (p.Ala37Ser)
c.240G>T (p.Glu80Asp)
c.120G>T (p.Glu40Asp)
c.643G>T (p.Ala215Ser)
n.298G>T
c.523G>T (p.Ala175Ser)
c.465G>T (p.Glu155Asp)
 gnomAD v4
11g.72106093C>ACA475864865LRRC51,LRTOMT,TOMTc.142C>A (p.Arg48=)
c.438-2512C>A (n.438-2512C>A)
c.110C>A (p.Ala37Glu)
c.241C>A (p.Arg81=)
c.121C>A (p.Arg41=)
c.644C>A (p.Ala215Glu)
n.299C>A
c.524C>A (p.Ala175Glu)
c.466C>A (p.Arg156=)
11g.72106093C=CA1981839906LRRC51,LRTOMT,TOMTc.142C= (p.Arg48=)
c.438-2512C= (n.438-2512C=)
c.110C= (p.Ala37=)
c.241C= (p.Arg81=)
c.121C= (p.Arg41=)
c.644C= (p.Ala215=)
n.299C=
c.524C= (p.Ala175=)
c.466C= (p.Arg156=)
11g.72106093C>GCA224374534LRRC51,LRTOMT,TOMTc.142C>G (p.Arg48Gly)
c.438-2512C>G (n.438-2512C>G)
c.110C>G (p.Ala37Gly)
c.241C>G (p.Arg81Gly)
c.121C>G (p.Arg41Gly)
c.644C>G (p.Ala215Gly)
n.299C>G
c.524C>G (p.Ala175Gly)
c.466C>G (p.Arg156Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106093C>TCA381717737LRRC51,LRTOMT,TOMTc.142C>T (p.Arg48Trp)
c.438-2512C>T (n.438-2512C>T)
c.110C>T (p.Ala37Val)
c.241C>T (p.Arg81Trp)
c.121C>T (p.Arg41Trp)
c.644C>T (p.Ala215Val)
n.299C>T
c.524C>T (p.Ala175Val)
c.466C>T (p.Arg156Trp)
 dbSNP gnomAD v3 gnomAD v4
11g.72106093_72106094delinsCGCA1981839907LRRC51,LRTOMT,TOMTc.142_143delinsCG (p.Arg48=)
c.438-2512_438-2511delinsCG (n.438-2512_438-2511delinsCG)
c.110_111delinsCG (p.Ala37=)
c.241_242delinsCG (p.Arg81=)
c.121_122delinsCG (p.Arg41=)
c.644_645delinsCG (p.Ala215=)
n.299_300delinsCG
c.524_525delinsCG (p.Ala175=)
c.466_467delinsCG (p.Arg156=)
11g.72106094G>ACA251495LRRC51,LRTOMT,TOMTc.143G>A (p.Arg48Gln)
c.438-2511G>A (n.438-2511G>A)
c.111G>A (p.Ala37=)
c.242G>A (p.Arg81Gln)
c.122G>A (p.Arg41Gln)
c.645G>A (p.Ala215=)
n.300G>A
c.525G>A (p.Ala175=)
c.467G>A (p.Arg156Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72106094G>CCA381717740LRRC51,LRTOMT,TOMTc.143G>C (p.Arg48Pro)
c.438-2511G>C (n.438-2511G>C)
c.111G>C (p.Ala37=)
c.242G>C (p.Arg81Pro)
c.122G>C (p.Arg41Pro)
c.645G>C (p.Ala215=)
n.300G>C
c.525G>C (p.Ala175=)
c.467G>C (p.Arg156Pro)
 gnomAD v4
11g.72106094G=CA1981839908LRRC51,LRTOMT,TOMTc.143G= (p.Arg48=)
c.438-2511G= (n.438-2511G=)
c.111G= (p.Ala37=)
c.242G= (p.Arg81=)
c.122G= (p.Arg41=)
c.645G= (p.Ala215=)
n.300G=
c.525G= (p.Ala175=)
c.467G= (p.Arg156=)
11g.72106094G>TCA381717743LRRC51,LRTOMT,TOMTc.143G>T (p.Arg48Leu)
c.438-2511G>T (n.438-2511G>T)
c.111G>T (p.Ala37=)
c.242G>T (p.Arg81Leu)
c.122G>T (p.Arg41Leu)
c.645G>T (p.Ala215=)
n.300G>T
c.525G>T (p.Ala175=)
c.467G>T (p.Arg156Leu)
11g.72106096delCA600242551LRRC51,LRTOMT,TOMTc.145del (p.Ala49ProfsTer?)
c.438-2509del (n.438-2509del)
c.113del (p.Gly38AlafsTer?)
c.244del (p.Ala82ProfsTer?)
c.124del (p.Ala42ProfsTer?)
c.647del (p.Gly216AlafsTer?)
n.302del
c.527del (p.Gly176AlafsTer?)
c.469del (p.Ala157ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched