Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72105985C>A | CA381717057 | LRRC51,LRTOMT,TOMT | c.34C>A (p.Leu12Met) c.438-2620C>A (n.438-2620C>A) c.73-71C>A (n.73-71C>A) c.133C>A (p.Leu45Met) c.84-71C>A (n.84-71C>A) c.536C>A (p.Thr179Asn) n.191C>A c.487-71C>A (n.487-71C>A) c.358C>A (p.Leu120Met) | |
11 | g.72105985C>G | CA381717059 | LRRC51,LRTOMT,TOMT | c.34C>G (p.Leu12Val) c.438-2620C>G (n.438-2620C>G) c.73-71C>G (n.73-71C>G) c.133C>G (p.Leu45Val) c.84-71C>G (n.84-71C>G) c.536C>G (p.Thr179Ser) n.191C>G c.487-71C>G (n.487-71C>G) c.358C>G (p.Leu120Val) | |
11 | g.72105985C>T | CA475864774 | LRRC51,LRTOMT,TOMT | c.34C>T (p.Leu12=) c.438-2620C>T (n.438-2620C>T) c.73-71C>T (n.73-71C>T) c.133C>T (p.Leu45=) c.84-71C>T (n.84-71C>T) c.536C>T (p.Thr179Ile) n.191C>T c.487-71C>T (n.487-71C>T) c.358C>T (p.Leu120=) | |
11 | g.72105986T>A | CA381717063 | LRRC51,LRTOMT,TOMT | c.35T>A (p.Leu12Gln) c.438-2619T>A (n.438-2619T>A) c.73-70T>A (n.73-70T>A) c.134T>A (p.Leu45Gln) c.84-70T>A (n.84-70T>A) c.537T>A (p.Thr179=) n.192T>A c.487-70T>A (n.487-70T>A) c.359T>A (p.Leu120Gln) | |
11 | g.72105986T>C | CA381717064 | LRRC51,LRTOMT,TOMT | c.35T>C (p.Leu12Pro) c.438-2619T>C (n.438-2619T>C) c.73-70T>C (n.73-70T>C) c.134T>C (p.Leu45Pro) c.84-70T>C (n.84-70T>C) c.537T>C (p.Thr179=) n.192T>C c.487-70T>C (n.487-70T>C) c.359T>C (p.Leu120Pro) | dbSNP |
11 | g.72105986T>G | CA381717066 | LRRC51,LRTOMT,TOMT | c.35T>G (p.Leu12Arg) c.438-2619T>G (n.438-2619T>G) c.73-70T>G (n.73-70T>G) c.134T>G (p.Leu45Arg) c.84-70T>G (n.84-70T>G) c.537T>G (p.Thr179=) n.192T>G c.487-70T>G (n.487-70T>G) c.359T>G (p.Leu120Arg) | dbSNP |
11 | g.72105986T= | CA1981839853 | LRRC51,LRTOMT,TOMT | c.35T= (p.Leu12=) c.438-2619T= (n.438-2619T=) c.73-70T= (n.73-70T=) c.134T= (p.Leu45=) c.84-70T= (n.84-70T=) c.537T= (p.Thr179=) n.192T= c.487-70T= (n.487-70T=) c.359T= (p.Leu120=) | |
11 | g.72105987G>A | CA475864775 | LRRC51,LRTOMT,TOMT | c.36G>A (p.Leu12=) c.438-2618G>A (n.438-2618G>A) c.73-69G>A (n.73-69G>A) c.135G>A (p.Leu45=) c.84-69G>A (n.84-69G>A) c.538G>A (p.Gly180Ser) n.193G>A c.487-69G>A (n.487-69G>A) c.360G>A (p.Leu120=) | |
11 | g.72105987G>C | CA475864776 | LRRC51,LRTOMT,TOMT | c.36G>C (p.Leu12=) c.438-2618G>C (n.438-2618G>C) c.73-69G>C (n.73-69G>C) c.135G>C (p.Leu45=) c.84-69G>C (n.84-69G>C) c.538G>C (p.Gly180Arg) n.193G>C c.487-69G>C (n.487-69G>C) c.360G>C (p.Leu120=) | |
11 | g.72105987G>T | CA475864777 | LRRC51,LRTOMT,TOMT | c.36G>T (p.Leu12=) c.438-2618G>T (n.438-2618G>T) c.73-69G>T (n.73-69G>T) c.135G>T (p.Leu45=) c.84-69G>T (n.84-69G>T) c.538G>T (p.Gly180Cys) n.193G>T c.487-69G>T (n.487-69G>T) c.360G>T (p.Leu120=) | |
11 | g.72105988dup | CA2614917360 | LRRC51,LRTOMT,TOMT | c.37dup (p.Val13GlyfsTer?) c.438-2617dup (n.438-2617dup) c.73-68dup (n.73-68dup) c.136dup (p.Val46GlyfsTer?) c.84-68dup (n.84-68dup) c.539dup (p.Gly181TrpfsTer2) n.194dup c.487-68dup (n.487-68dup) c.361dup (p.Val121GlyfsTer?) | gnomAD v4 |
11 | g.72105988G>A | CA381717068 | LRRC51,LRTOMT,TOMT | c.37G>A (p.Val13Met) c.438-2617G>A (n.438-2617G>A) c.73-68G>A (n.73-68G>A) c.136G>A (p.Val46Met) c.84-68G>A (n.84-68G>A) c.539G>A (p.Gly180Asp) n.194G>A c.487-68G>A (n.487-68G>A) c.361G>A (p.Val121Met) | |
11 | g.72105988G>C | CA381717070 | LRRC51,LRTOMT,TOMT | c.37G>C (p.Val13Leu) c.438-2617G>C (n.438-2617G>C) c.73-68G>C (n.73-68G>C) c.136G>C (p.Val46Leu) c.84-68G>C (n.84-68G>C) c.539G>C (p.Gly180Ala) n.194G>C c.487-68G>C (n.487-68G>C) c.361G>C (p.Val121Leu) | |
11 | g.72105988G>T | CA381717072 | LRRC51,LRTOMT,TOMT | c.37G>T (p.Val13Leu) c.438-2617G>T (n.438-2617G>T) c.73-68G>T (n.73-68G>T) c.136G>T (p.Val46Leu) c.84-68G>T (n.84-68G>T) c.539G>T (p.Gly180Val) n.194G>T c.487-68G>T (n.487-68G>T) c.361G>T (p.Val121Leu) | |
11 | g.72105989T>A | CA381717075 | LRRC51,LRTOMT,TOMT | c.38T>A (p.Val13Glu) c.438-2616T>A (n.438-2616T>A) c.73-67T>A (n.73-67T>A) c.137T>A (p.Val46Glu) c.84-67T>A (n.84-67T>A) c.540T>A (p.Gly180=) n.195T>A c.487-67T>A (n.487-67T>A) c.362T>A (p.Val121Glu) | |
11 | g.72105989T>C | CA381717077 | LRRC51,LRTOMT,TOMT | c.38T>C (p.Val13Ala) c.438-2616T>C (n.438-2616T>C) c.73-67T>C (n.73-67T>C) c.137T>C (p.Val46Ala) c.84-67T>C (n.84-67T>C) c.540T>C (p.Gly180=) n.195T>C c.487-67T>C (n.487-67T>C) c.362T>C (p.Val121Ala) | gnomAD v4 |
11 | g.72105989T>G | CA381717078 | LRRC51,LRTOMT,TOMT | c.38T>G (p.Val13Gly) c.438-2616T>G (n.438-2616T>G) c.73-67T>G (n.73-67T>G) c.137T>G (p.Val46Gly) c.84-67T>G (n.84-67T>G) c.540T>G (p.Gly180=) n.195T>G c.487-67T>G (n.487-67T>G) c.362T>G (p.Val121Gly) | |
11 | g.72105989_72105990delinsTG | CA1981839854 | LRRC51,LRTOMT,TOMT | c.38_39delinsTG (p.Val13=) c.438-2616_438-2615delinsTG (n.438-2616_438-2615delinsTG) c.73-67_73-66delinsTG (n.73-67_73-66delinsTG) c.137_138delinsTG (p.Val46=) c.84-67_84-66delinsTG (n.84-67_84-66delinsTG) c.540_541delinsTG (p.Gly180=) n.195_196delinsTG c.487-67_487-66delinsTG (n.487-67_487-66delinsTG) c.362_363delinsTG (p.Val121=) | |
11 | g.72105990G>A | CA224374431 | LRRC51,LRTOMT,TOMT | c.39G>A (p.Val13=) c.438-2615G>A (n.438-2615G>A) c.73-66G>A (n.73-66G>A) c.138G>A (p.Val46=) c.84-66G>A (n.84-66G>A) c.541G>A (p.Gly181Ser) n.196G>A c.487-66G>A (n.487-66G>A) c.363G>A (p.Val121=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72105990G>C | CA475864778 | LRRC51,LRTOMT,TOMT | c.39G>C (p.Val13=) c.438-2615G>C (n.438-2615G>C) c.73-66G>C (n.73-66G>C) c.138G>C (p.Val46=) c.84-66G>C (n.84-66G>C) c.541G>C (p.Gly181Arg) n.196G>C c.487-66G>C (n.487-66G>C) c.363G>C (p.Val121=) | |
11 | g.72105990G= | CA1981839855 | LRRC51,LRTOMT,TOMT | c.39G= (p.Val13=) c.438-2615G= (n.438-2615G=) c.73-66G= (n.73-66G=) c.138G= (p.Val46=) c.84-66G= (n.84-66G=) c.541G= (p.Gly181=) n.196G= c.487-66G= (n.487-66G=) c.363G= (p.Val121=) | |
11 | g.72105990G>T | CA475864779 | LRRC51,LRTOMT,TOMT | c.39G>T (p.Val13=) c.438-2615G>T (n.438-2615G>T) c.73-66G>T (n.73-66G>T) c.138G>T (p.Val46=) c.84-66G>T (n.84-66G>T) c.541G>T (p.Gly181Cys) n.196G>T c.487-66G>T (n.487-66G>T) c.363G>T (p.Val121=) | gnomAD v4 |
11 | g.72105991del | CA600242547 | LRRC51,LRTOMT,TOMT | c.40del (p.Val14Ter) c.438-2614del (n.438-2614del) c.73-65del (n.73-65del) c.139del (p.Val47Ter) c.84-65del (n.84-65del) c.542del (p.Gly181ValfsTer?) n.197del c.487-65del (n.487-65del) c.364del (p.Val122Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72105991G>A | CA381717083 | LRRC51,LRTOMT,TOMT | c.40G>A (p.Val14Ile) c.438-2614G>A (n.438-2614G>A) c.73-65G>A (n.73-65G>A) c.139G>A (p.Val47Ile) c.84-65G>A (n.84-65G>A) c.542G>A (p.Gly181Asp) n.197G>A c.487-65G>A (n.487-65G>A) c.364G>A (p.Val122Ile) | gnomAD v4 |
11 | g.72105991G>C | CA381717082 | LRRC51,LRTOMT,TOMT | c.40G>C (p.Val14Leu) c.438-2614G>C (n.438-2614G>C) c.73-65G>C (n.73-65G>C) c.139G>C (p.Val47Leu) c.84-65G>C (n.84-65G>C) c.542G>C (p.Gly181Ala) n.197G>C c.487-65G>C (n.487-65G>C) c.364G>C (p.Val122Leu) | |
11 | g.72105991G>T | CA381717080 | LRRC51,LRTOMT,TOMT | c.40G>T (p.Val14Leu) c.438-2614G>T (n.438-2614G>T) c.73-65G>T (n.73-65G>T) c.139G>T (p.Val47Leu) c.84-65G>T (n.84-65G>T) c.542G>T (p.Gly181Val) n.197G>T c.487-65G>T (n.487-65G>T) c.364G>T (p.Val122Leu) | |
11 | g.72105992T>A | CA381717089 | LRRC51,LRTOMT,TOMT | c.41T>A (p.Val14Glu) c.438-2613T>A (n.438-2613T>A) c.73-64T>A (n.73-64T>A) c.140T>A (p.Val47Glu) c.84-64T>A (n.84-64T>A) c.543T>A (p.Gly181=) n.198T>A c.487-64T>A (n.487-64T>A) c.365T>A (p.Val122Glu) | |
11 | g.72105992T>C | CA381717085 | LRRC51,LRTOMT,TOMT | c.41T>C (p.Val14Ala) c.438-2613T>C (n.438-2613T>C) c.73-64T>C (n.73-64T>C) c.140T>C (p.Val47Ala) c.84-64T>C (n.84-64T>C) c.543T>C (p.Gly181=) n.198T>C c.487-64T>C (n.487-64T>C) c.365T>C (p.Val122Ala) | |
11 | g.72105992T>G | CA381717087 | LRRC51,LRTOMT,TOMT | c.41T>G (p.Val14Gly) c.438-2613T>G (n.438-2613T>G) c.73-64T>G (n.73-64T>G) c.140T>G (p.Val47Gly) c.84-64T>G (n.84-64T>G) c.543T>G (p.Gly181=) n.198T>G c.487-64T>G (n.487-64T>G) c.365T>G (p.Val122Gly) | |
11 | g.72105993A>C | CA475864780 | LRRC51,LRTOMT,TOMT | c.42A>C (p.Val14=) c.438-2612A>C (n.438-2612A>C) c.73-63A>C (n.73-63A>C) c.141A>C (p.Val47=) c.84-63A>C (n.84-63A>C) c.544A>C (p.Asn182His) n.199A>C c.487-63A>C (n.487-63A>C) c.366A>C (p.Val122=) | |
11 | g.72105993A>G | CA475864781 | LRRC51,LRTOMT,TOMT | c.42A>G (p.Val14=) c.438-2612A>G (n.438-2612A>G) c.73-63A>G (n.73-63A>G) c.141A>G (p.Val47=) c.84-63A>G (n.84-63A>G) c.544A>G (p.Asn182Asp) n.199A>G c.487-63A>G (n.487-63A>G) c.366A>G (p.Val122=) | |
11 | g.72105993A>T | CA475864782 | LRRC51,LRTOMT,TOMT | c.42A>T (p.Val14=) c.438-2612A>T (n.438-2612A>T) c.73-63A>T (n.73-63A>T) c.141A>T (p.Val47=) c.84-63A>T (n.84-63A>T) c.544A>T (p.Asn182Tyr) n.199A>T c.487-63A>T (n.487-63A>T) c.366A>T (p.Val122=) | |
11 | g.72105994A>C | CA381717091 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105994A>G | CA381717092 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105994A>T | CA381717094 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105995C>A | CA381717095 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105995C>G | CA381717096 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105995C>T | CA381717097 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105995_72106025delinsCATTGCTGGTGCGGTACCGGCACTACTTCCG | CA1981839856 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72105996A>C | CA475864783 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72105996A>G | CA475864784 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72105996A>T | CA475864785 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106008_72106037dup | CA939434508 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106008_72106037del | CA600242548 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72105997T>A | CA381717098 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105997T>C | CA6168568 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72105997T>G | CA381717105 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105997T= | CA1981839857 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72105998dup | CA2840339058 | LRRC51,LRTOMT,TOMT | c.47dup (p.Leu16PhefsTer?) c.438-2607dup (n.438-2607dup) c.73-58dup (n.73-58dup) c.146dup (p.Leu49PhefsTer?) c.84-58dup (n.84-58dup) c.549dup (p.Ala184CysfsTer?) n.204dup c.487-58dup (n.487-58dup) c.371dup (p.Leu124PhefsTer?) | |
11 | g.72105998T>A | CA381717108 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105998T>C | CA381717111 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105998T>G | CA381717112 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105999G>A | CA475864786 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72105999G>C | CA381717114 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72105999G>T | CA381717117 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106000C>A | CA6168569 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106000C= | CA1981839858 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106000C>G | CA381717120 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106000C>T | CA475864787 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106001T>A | CA381717122 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106001T>C | CA381717123 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106001T>G | CA381717129 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106001T= | CA1981839859 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106002G>A | CA475864788 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106002G>C | CA475864789 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106002G>T | CA475864790 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106003dup | CA2695214940 | LRRC51,LRTOMT,TOMT | c.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?) | |
11 | g.72106003G>A | CA381717131 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106003G>C | CA6168570 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106003G= | CA1981839860 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106003G>T | CA381717137 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106004T>A | CA381717142 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106004T>C | CA381717145 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106004T>G | CA381717149 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106004T= | CA1981839861 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106005G>A | CA475864791 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106005G>C | CA475864793 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106005G>T | CA475864792 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106006C>A | CA475864794 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106006C= | CA1981839862 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106006C>G | CA381717152 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106006C>T | CA381717154 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106007G>A | CA224374463 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106007G>C | CA381717161 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106007G= | CA1981839863 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106007G>T | CA381717157 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106008G>A | CA475864795 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106008G>C | CA475864796 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106008G>T | CA475864797 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106009T>A | CA381717167 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106009T>C | CA381717184 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106009T>G | CA381717173 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106010A>C | CA381717192 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106010A>G | CA381717195 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106010A>T | CA381717197 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106011C>A | CA381717202 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106011C= | CA1981839864 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106011C>G | CA381717203 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106011C>T | CA475864798 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106012C>A | CA475864799 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106012C= | CA1981839865 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106012C>G | CA381717208 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106012C>T | CA6168571 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106013G>A | CA6168572 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106013G>C | CA381717218 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106013G= | CA1981839866 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106013G>T | CA381717219 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106014G>A | CA475864800 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106014G>C | CA475864801 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106014G>T | CA475864802 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106015C>A | CA381717222 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106015C= | CA1981839867 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106015C>G | CA381717223 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106015C>T | CA381717224 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106016A>C | CA381717229 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106016A>G | CA381717238 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106016A>T | CA381717235 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106017C>A | CA381717244 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106017C= | CA1981839868 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106017C>G | CA176672 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106017C>T | CA475864803 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106018T>A | CA381717247 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106018T>C | CA381717250 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106018T>G | CA381717251 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106019A= | CA1981839869 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106019A>C | CA381717252 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106019A>G | CA381717254 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106019A>T | CA381717258 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106020C>A | CA381717264 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106020C>G | CA381717266 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106020C>T | CA475864804 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106021T>A | CA381717272 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106021T>C | CA381717269 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106021T>G | CA381717267 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106022T>A | CA381717277 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106022T>C | CA381717279 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106022T>G | CA381717282 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106023C>A | CA381717287 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106023C>G | CA381717290 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106023C>T | CA475864805 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106024C>A | CA475864806 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106024C= | CA1981839870 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106024C>G | CA381717293 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106024C>T | CA381717295 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106025G>A | CA224374471 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106025G>C | CA381717309 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106025G= | CA1981839871 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106025G>T | CA381717311 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106026A>C | CA475864809 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106026A>G | CA475864808 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106026A>T | CA475864807 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106027T>A | CA381717314 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106027T>C | CA475864810 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106027T>G | CA381717317 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106027T= | CA1981839872 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106028T>A | CA381717332 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106028T>C | CA381717328 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106028T>G | CA381717325 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106029G>A | CA475864811 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106029G>C | CA381717342 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106029G= | CA1981839873 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106029G>T | CA381717344 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106030C>A | CA381717367 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106030C>G | CA381717370 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106030C>T | CA475864812 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106031T>A | CA381717377 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106031T>C | CA381717379 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106031T>G | CA381717381 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106032G>A | CA475864813 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106032G>C | CA475864815 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106032G= | CA1981839874 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106032G>T | CA475864814 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106033del | CA2614917432 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106033G>A | CA381717389 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106033G>C | CA381717391 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106033G>T | CA381717394 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106033_72106036delinsGTGC | CA1981839875 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106034T>A | CA381717395 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106034T>C | CA381717396 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106034T>G | CA381717398 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106034T= | CA1981839876 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106034_72106036del | CA600242549 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106035G>A | CA475864816 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106035G>C | CA475864817 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106035G= | CA1981839877 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106035G>T | CA475864818 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106036C>A | CA381717405 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106036C= | CA1981839878 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106036C>G | CA381717408 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106036C>T | CA6168573 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106037G>A | CA6168574 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106037G>C | CA381717426 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106037G= | CA1981839879 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106037G>T | CA381717423 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106038C>A | CA475864819 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106038C>G | CA475864820 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106038C>T | CA475864821 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106039A>C | CA381717431 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106039A>G | CA381717437 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106039A>T | CA381717434 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106040C>A | CA381717442 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106040C= | CA1981839880 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106040C>G | CA381717444 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106040C>T | CA10576898 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106041G>A | CA6168575 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106041G>C | CA475864822 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106041G= | CA1981839881 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106041G>T | CA475864823 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106042G>A | CA381717455 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106042G>C | CA381717458 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106042G>T | CA381717461 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106043T>A | CA381717465 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106043T>C | CA381717467 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106043T>G | CA185304 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106043T= | CA1981839882 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106044C>A | CA475864824 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106044C>G | CA475864825 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106044C>T | CA475864826 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106045T>A | CA381717474 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106045T>C | CA475864827 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106045T>G | CA381717478 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106046T>A | CA381717483 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106046T>C | CA381717491 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106046T>G | CA381717488 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106046T= | CA1981839883 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106047G>A | CA475864828 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106047G>C | CA381717498 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106047G>T | CA381717501 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106048_72106052dup | CA600242550 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106048C>A | CA224374487 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106048C= | CA1981839884 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106048C>G | CA10576899 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106048C>T | CA475864829 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106049T>A | CA381717515 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106049T>C | CA6168576 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106049T>G | CA224374494 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106049T= | CA1981839885 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106050G>A | CA475864830 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106050G>C | CA475864831 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106050G>T | CA475864832 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106051C>A | CA475864833 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106051C= | CA1981839886 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106051C>G | CA381717526 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106051C>T | CA6168577 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106052G>A | CA381717535 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106052G>C | CA381717549 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106052G= | CA1981839887 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106052G>T | CA381717533 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106053A>C | CA475864836 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106053A>G | CA475864835 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106053A>T | CA475864834 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106054A>C | CA381717553 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106054A>G | CA381717557 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106054A>T | CA381717559 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106055G>A | CA381717564 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106055G>C | CA224374499 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106055G= | CA1981839888 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106055G>T | CA381717568 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106056C>A | CA381717571 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106056C= | CA1981839889 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106056C>G | CA381717572 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106056C>T | CA224374501 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106057C>A | CA381717573 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106057C= | CA1981839890 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106057C>G | CA381717574 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106057C>T | CA381717575 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106058T>A | CA381717577 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106058T>C | CA381717578 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106058T>G | CA381717576 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106059C>A | CA475864837 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106059C= | CA1981839891 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106059C>G | CA475864838 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106059C>T | CA224374506 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106060C>A | CA475864839 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106060C= | CA1981839892 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106060C>G | CA381717580 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106060C>T | CA381717582 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106061G>A | CA10640061 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106061G>C | CA381717585 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106061G= | CA1981839893 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106061G>T | CA381717586 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106062A>C | CA475864840 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106062A>G | CA475864841 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106062A>T | CA475864842 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106063G>A | CA224374513 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106063G>C | CA381717588 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106063G= | CA1981839894 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106063G>T | CA381717587 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106064A= | CA1981839895 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106064A>C | CA381717589 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106064A>G | CA381717590 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106064A>T | CA381717591 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106065C>A | CA381717592 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106065C>G | CA381717594 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106065C>T | CA475864843 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106068_72106071del | CA645593695 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106066T>A | CA381717601 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106066T>C | CA381717599 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106066T>G | CA381717597 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106066T= | CA1981839896 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106067G>A | CA6168578 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106067G>C | CA381717604 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106067G= | CA1981839897 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106067G>T | CA381717606 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106068C>A | CA381717610 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106068C>G | CA381717611 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106068C>T | CA475864844 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106069C>A | CA381717614 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106069C>G | CA381717615 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106069C>T | CA475864845 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106070T>A | CA381717618 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106070T>C | CA381717620 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106070T>G | CA381717621 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106071G>A | CA475864846 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106071G>C | CA475864847 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106071G= | CA1981839898 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106071G>T | CA475864848 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106072T>A | CA381717624 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106072T>C | CA381717627 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106072T>G | CA381717625 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106073C>A | CA381717630 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106073C>G | CA381717632 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106073C>T | CA381717633 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106074A= | CA1981839899 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106074A>C | CA475864850 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106074A>G | CA133442 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106074A>T | CA475864849 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106075G>A | CA381717640 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106075G>C | CA381717643 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106075G>T | CA381717641 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106076G>A | CA381717645 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106076G>C | CA381717647 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106076G= | CA1981839900 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106076G>T | CA381717649 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106077G>A | CA475864851 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106077G>C | CA475864852 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106077G>T | CA475864853 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106078C>A | CA381717652 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106078C>G | CA381717654 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106078C>T | CA475864854 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106079T>A | CA381717655 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106079T>C | CA381717658 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106079T>G | CA381717659 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106080G>A | CA475864855 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106080G>C | CA475864856 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106080G>T | CA475864857 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106081C>A | CA475864858 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106081C= | CA1981839901 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106081C>G | CA381717662 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106081C>T | CA6168579 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106082G>A | CA6168580 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106082G>C | CA381717670 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106082G= | CA1981839902 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106082G>T | CA381717667 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106083dup | CA2839651607 | LRRC51,LRTOMT,TOMT | c.132dup (p.Ile45AspfsTer17) c.438-2522dup (n.438-2522dup) c.100dup (p.Asp34GlyfsTer?) c.231dup (p.Ile78AspfsTer17) c.111dup (p.Ile38AspfsTer17) c.634dup (p.Asp212GlyfsTer?) n.289dup c.514dup (p.Asp172GlyfsTer?) c.456dup (p.Ile153AspfsTer17) | |
11 | g.72106083G>A | CA475864859 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106083G>C | CA475864860 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106083G>T | CA475864861 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106084del | CA2614917526 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106084A= | CA1981839903 | LRRC51,LRTOMT,TOMT | c.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=) | |
11 | g.72106084A>C | CA381717675 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106084A>G | CA381717677 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106084A>T | CA381717680 | LRRC51,LRTOMT,TOMT | c.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 |
11 | g.72106085T>A | CA381717683 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106085T>C | CA381717685 | LRRC51,LRTOMT,TOMT | c.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) | |
11 | g.72106085T>G | CA381717692 | LRRC51,LRTOMT,TOMT | c.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) |