Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2171730_2171741del | CA472019130 | TH | c.46_57del (p.Arg16_Ser19del) | |
11 | g.2171741T>A | CA5818879 | TH | c.46A>T (p.Arg16Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171741T>C | CA379112846 | TH | c.46A>G (p.Arg16Gly) | ClinVar |
11 | g.2171741T>G | CA472019140 | TH | c.46A>C (p.Arg16=) | |
11 | g.2171741T= | CA1948012060 | TH | c.46A= (p.Arg16=) | |
11 | g.2171742G>A | CA472019141 | TH | c.45C>T (p.Arg15=) | ClinVar |
11 | g.2171742G>C | CA472019142 | TH | c.45C>G (p.Arg15=) | |
11 | g.2171742G>T | CA472019143 | TH | c.45C>A (p.Arg15=) | |
11 | g.2171742dup | CA2841197868 | TH | c.45dup (p.Arg16GlnfsTer5) | |
11 | g.2171743_2171775del | CA912971952 | TH | c.13_45del (p.Asp5_Arg15del) | |
11 | g.2171743C>A | CA5818881 | TH | c.44G>T (p.Arg15Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171743C= | CA1948012069 | TH | c.44G= (p.Arg15=) | |
11 | g.2171743C>G | CA379112847 | TH | c.44G>C (p.Arg15Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171743C>T | CA5818880 | TH | c.44G>A (p.Arg15His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171743_2171775delinsCGGAAGCCCTTGGCCTGTGGCGTGGTGGCGTCG | CA1948012065 | TH | c.12_44delinsCGACGCCACCACGCCACAGGCCAAGGGCTTCCG (p.Pro4=) | |
11 | g.2171744G>A | CA5818882 | TH | c.43C>T (p.Arg15Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171744G>C | CA379112848 | TH | c.43C>G (p.Arg15Gly) | |
11 | g.2171744G= | CA1948012076 | TH | c.43C= (p.Arg15=) | |
11 | g.2171744G>T | CA379112849 | TH | c.43C>A (p.Arg15Ser) | dbSNP gnomAD v4 COSMIC |
11 | g.2171746_2171777del | CA658821343 | TH | c.12_43del (p.Asp5GlnfsTer5) | ClinVar dbSNP |
11 | g.2171745G>A | CA472019144 | TH | c.42C>T (p.Phe14=) | |
11 | g.2171745G>C | CA379112850 | TH | c.42C>G (p.Phe14Leu) | ClinVar |
11 | g.2171745G>T | CA379112851 | TH | c.42C>A (p.Phe14Leu) | gnomAD v4 |
11 | g.2171746A>C | CA379112852 | TH | c.41T>G (p.Phe14Cys) | |
11 | g.2171746A>G | CA379112854 | TH | c.41T>C (p.Phe14Ser) | |
11 | g.2171746A>T | CA379112853 | TH | c.41T>A (p.Phe14Tyr) | |
11 | g.2171747A>C | CA379112855 | TH | c.40T>G (p.Phe14Val) | |
11 | g.2171747A>G | CA379112856 | TH | c.40T>C (p.Phe14Leu) | |
11 | g.2171747A>T | CA379112857 | TH | c.40T>A (p.Phe14Ile) | |
11 | g.2171748G>A | CA472019145 | TH | c.39C>T (p.Gly13=) | ClinVar |
11 | g.2171748G>C | CA472019147 | TH | c.39C>G (p.Gly13=) | |
11 | g.2171748G>T | CA472019146 | TH | c.39C>A (p.Gly13=) | |
11 | g.2171748_2171749insAA | CA472019148 | TH | c.38_39insTT (p.Phe14SerfsTer?) c.38_39insTT (p.Phe14SerfsTer19) | |
11 | g.2171749C>A | CA379112858 | TH | c.38G>T (p.Gly13Val) | |
11 | g.2171749C= | CA1948012080 | TH | c.38G= (p.Gly13=) | |
11 | g.2171749C>G | CA379112859 | TH | c.38G>C (p.Gly13Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171749C>T | CA379112860 | TH | c.38G>A (p.Gly13Asp) | |
11 | g.2171749_2171752delinsCCCT | CA1948012082 | TH | c.35_38delinsAGGG (p.Lys12=) | |
11 | g.2171750C>A | CA379112861 | TH | c.37G>T (p.Gly13Cys) | |
11 | g.2171750C= | CA1948012088 | TH | c.37G= (p.Gly13=) | |
11 | g.2171750C>G | CA379112862 | TH | c.37G>C (p.Gly13Arg) | |
11 | g.2171750C>T | CA379112863 | TH | c.37G>A (p.Gly13Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171750_2171752del | CA472019149 | TH | c.35_37del (p.Lys12_Gly13delinsSer) | dbSNP |
11 | g.2171751C>A | CA379112864 | TH | c.36G>T (p.Lys12Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171751C= | CA1948012091 | TH | c.36G= (p.Lys12=) | |
11 | g.2171751C>G | CA379112865 | TH | c.36G>C (p.Lys12Asn) | |
11 | g.2171751C>T | CA472019150 | TH | c.36G>A (p.Lys12=) | COSMIC |
11 | g.2171752T>A | CA379112868 | TH | c.35A>T (p.Lys12Met) | gnomAD v4 |
11 | g.2171752T>C | CA379112866 | TH | c.35A>G (p.Lys12Arg) | gnomAD v4 |
11 | g.2171752T>G | CA379112867 | TH | c.35A>C (p.Lys12Thr) | dbSNP |
11 | g.2171752T= | CA1948012093 | TH | c.35A= (p.Lys12=) | |
11 | g.2171753T>A | CA379112869 | TH | c.34A>T (p.Lys12Ter) | |
11 | g.2171753T>C | CA379112870 | TH | c.34A>G (p.Lys12Glu) | |
11 | g.2171753T>G | CA379112871 | TH | c.34A>C (p.Lys12Gln) | |
11 | g.2171754G>A | CA472019151 | TH | c.33C>T (p.Ala11=) | gnomAD v4 |
11 | g.2171754G>C | CA472019153 | TH | c.33C>G (p.Ala11=) | |
11 | g.2171754G>T | CA472019152 | TH | c.33C>A (p.Ala11=) | |
11 | g.2171755G>A | CA379112872 | TH | c.32C>T (p.Ala11Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171755G>C | CA216230038 | TH | c.32C>G (p.Ala11Gly) | ClinVar dbSNP |
11 | g.2171755G= | CA1948012099 | TH | c.32C= (p.Ala11=) | |
11 | g.2171755G>T | CA379112873 | TH | c.32C>A (p.Ala11Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.2171756C>A | CA379112874 | TH | c.31G>T (p.Ala11Ser) | |
11 | g.2171756C= | CA1948012108 | TH | c.31G= (p.Ala11=) | |
11 | g.2171756C>G | CA379112875 | TH | c.31G>C (p.Ala11Pro) | |
11 | g.2171756C>T | CA5818883 | TH | c.31G>A (p.Ala11Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171756_2171760delinsCCTGT | CA1948012106 | TH | c.27_31delinsACAGG (p.Pro9=) | |
11 | g.2171757C>A | CA379112876 | TH | c.30G>T (p.Gln10His) | |
11 | g.2171757C= | CA1948012109 | TH | c.30G= (p.Gln10=) | |
11 | g.2171757C>G | CA379112877 | TH | c.30G>C (p.Gln10His) | |
11 | g.2171757C>T | CA216230040 | TH | c.30G>A (p.Gln10=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171757_2171760del | CA472019154 | TH | c.27_30del (p.Gln10ProfsTer?) c.27_30del (p.Gln10ProfsTer21) | dbSNP |
11 | g.2171758T>A | CA379112879 | TH | c.29A>T (p.Gln10Leu) | |
11 | g.2171758T>C | CA379112880 | TH | c.29A>G (p.Gln10Arg) | COSMIC |
11 | g.2171758T>G | CA379112878 | TH | c.29A>C (p.Gln10Pro) | |
11 | g.2171759G>A | CA379112881 | TH | c.28C>T (p.Gln10Ter) | gnomAD v4 |
11 | g.2171759G>C | CA379112882 | TH | c.28C>G (p.Gln10Glu) | |
11 | g.2171759G>T | CA379112883 | TH | c.28C>A (p.Gln10Lys) | gnomAD v4 |
11 | g.2171760T>A | CA472019155 | TH | c.27A>T (p.Pro9=) | |
11 | g.2171760T>C | CA472019156 | TH | c.27A>G (p.Pro9=) | |
11 | g.2171760T>G | CA472019157 | TH | c.27A>C (p.Pro9=) | |
11 | g.2171761G>A | CA216230043 | TH | c.26C>T (p.Pro9Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171761G>C | CA379112884 | TH | c.26C>G (p.Pro9Arg) | |
11 | g.2171761G= | CA1948012112 | TH | c.26C= (p.Pro9=) | |
11 | g.2171761G>T | CA379112885 | TH | c.26C>A (p.Pro9Gln) | |
11 | g.2171762G>A | CA5818884 | TH | c.25C>T (p.Pro9Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171762G>C | CA379112886 | TH | c.25C>G (p.Pro9Ala) | |
11 | g.2171762G= | CA1948012114 | TH | c.25C= (p.Pro9=) | |
11 | g.2171762G>T | CA379112887 | TH | c.25C>A (p.Pro9Thr) | |
11 | g.2171763C>A | CA472019158 | TH | c.24G>T (p.Thr8=) | gnomAD v4 |
11 | g.2171763C= | CA1948012116 | TH | c.24G= (p.Thr8=) | |
11 | g.2171763C>G | CA5818886 | TH | c.24G>C (p.Thr8=) | dbSNP ExAC gnomAD v2 |
11 | g.2171763C>T | CA5818885 | TH | c.24G>A (p.Thr8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171763_2171765delinsCGT | CA1948012117 | TH | c.22_24delinsACG (p.Thr8=) | |
11 | g.2171764G>A | CA5818887 | TH | c.23C>T (p.Thr8Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171764G>C | CA379112888 | TH | c.23C>G (p.Thr8Arg) | gnomAD v4 |
11 | g.2171764G= | CA1948012121 | TH | c.23C= (p.Thr8=) | |
11 | g.2171764G>T | CA5818888 | TH | c.23C>A (p.Thr8Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171765_2171766del | CA918804924 | TH | c.22_23del (p.Thr8AlafsTer12) | dbSNP |
11 | g.2171765T>A | CA379112889 | TH | c.22A>T (p.Thr8Ser) | |
11 | g.2171765T>C | CA379112891 | TH | c.22A>G (p.Thr8Ala) | |
11 | g.2171765T>G | CA379112890 | TH | c.22A>C (p.Thr8Pro) | |
11 | g.2171766G>A | CA472019161 | TH | c.21C>T (p.Thr7=) | |
11 | g.2171766G>C | CA472019159 | TH | c.21C>G (p.Thr7=) | |
11 | g.2171766G>T | CA472019160 | TH | c.21C>A (p.Thr7=) | ClinVar dbSNP gnomAD v4 |
11 | g.2171768_2171777del | CA2790190903 | TH | c.12_21del (p.Asp5ArgfsTer?) c.12_21del (p.Asp5ArgfsTer24) | |
11 | g.2171767G>A | CA379112892 | TH | c.20C>T (p.Thr7Ile) | gnomAD v4 |
11 | g.2171767G>C | CA379112893 | TH | c.20C>G (p.Thr7Ser) | |
11 | g.2171767G>T | CA379112894 | TH | c.20C>A (p.Thr7Asn) | gnomAD v4 |
11 | g.2171768T>A | CA379112895 | TH | c.19A>T (p.Thr7Ser) | |
11 | g.2171768T>C | CA379112896 | TH | c.19A>G (p.Thr7Ala) | gnomAD v4 |
11 | g.2171768T>G | CA5818889 | TH | c.19A>C (p.Thr7Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171768T= | CA1948012124 | TH | c.19A= (p.Thr7=) | |
11 | g.2171769G>A | CA472019162 | TH | c.18C>T (p.Ala6=) | |
11 | g.2171769G>C | CA472019163 | TH | c.18C>G (p.Ala6=) | gnomAD v4 |
11 | g.2171769G>T | CA472019164 | TH | c.18C>A (p.Ala6=) | ClinVar gnomAD v4 |
11 | g.2171770G>A | CA379112897 | TH | c.17C>T (p.Ala6Val) | dbSNP |
11 | g.2171770G>C | CA379112898 | TH | c.17C>G (p.Ala6Gly) | |
11 | g.2171770G= | CA1948012127 | TH | c.17C= (p.Ala6=) | |
11 | g.2171770G>T | CA379112899 | TH | c.17C>A (p.Ala6Asp) | gnomAD v4 |
11 | g.2171771C>A | CA5818891 | TH | c.16G>T (p.Ala6Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171771C= | CA1948012129 | TH | c.16G= (p.Ala6=) | |
11 | g.2171771C>G | CA379112900 | TH | c.16G>C (p.Ala6Pro) | |
11 | g.2171771C>T | CA5818890 | TH | c.16G>A (p.Ala6Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171772G>A | CA5818892 | TH | c.15C>T (p.Asp5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171772G>C | CA379112902 | TH | c.15C>G (p.Asp5Glu) | |
11 | g.2171772G= | CA1948012133 | TH | c.15C= (p.Asp5=) | |
11 | g.2171772G>T | CA379112901 | TH | c.15C>A (p.Asp5Glu) | gnomAD v4 |
11 | g.2171772dup | CA918804925 | TH | c.15dup (p.Ala6ArgfsTer15) | dbSNP |
11 | g.2171773T>A | CA379112903 | TH | c.14A>T (p.Asp5Val) | |
11 | g.2171773T>C | CA379112905 | TH | c.14A>G (p.Asp5Gly) | |
11 | g.2171773T>G | CA379112904 | TH | c.14A>C (p.Asp5Ala) | |
11 | g.2171774C>A | CA379112906 | TH | c.13G>T (p.Asp5Tyr) | |
11 | g.2171774C= | CA1948012134 | TH | c.13G= (p.Asp5=) | |
11 | g.2171774C>G | CA379112907 | TH | c.13G>C (p.Asp5His) | |
11 | g.2171774C>T | CA5818893 | TH | c.13G>A (p.Asp5Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171775G>A | CA5818894 | TH | c.12C>T (p.Pro4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171775G>C | CA472019167 | TH | c.12C>G (p.Pro4=) | |
11 | g.2171775G= | CA1948012135 | TH | c.12C= (p.Pro4=) | |
11 | g.2171775G>T | CA472019165 | TH | c.12C>A (p.Pro4=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171779dup | CA16041468 | TH | c.12dup (p.Asp5ArgfsTer16) | ClinVar dbSNP gnomAD v4 |
11 | g.2171778_2171779dup | CA2790190904 | TH | c.11_12dup (p.Asp5ProfsTer?) c.11_12dup (p.Asp5ProfsTer28) | |
11 | g.2171779del | CA472019166 | TH | c.12del (p.Asp5ThrfsTer?) c.12del (p.Asp5ThrfsTer27) | gnomAD v4 COSMIC |
11 | g.2171775_2171776insAA | CA918804926 | TH | c.11_12insTT (p.Asp5SerfsTer?) c.11_12insTT (p.Asp5SerfsTer28) | dbSNP |
11 | g.2171776G>A | CA379112908 | TH | c.11C>T (p.Pro4Leu) | ClinVar gnomAD v4 COSMIC |
11 | g.2171776G>C | CA379112909 | TH | c.11C>G (p.Pro4Arg) | |
11 | g.2171776G>T | CA379112910 | TH | c.11C>A (p.Pro4His) | gnomAD v4 |
11 | g.2171777G>A | CA379112911 | TH | c.10C>T (p.Pro4Ser) | |
11 | g.2171777G>C | CA379112912 | TH | c.10C>G (p.Pro4Ala) | |
11 | g.2171777G= | CA1948012136 | TH | c.10C= (p.Pro4=) | |
11 | g.2171777G>T | CA379112913 | TH | c.10C>A (p.Pro4Thr) | gnomAD v4 |
11 | g.2171777_2171778insT | CA918804927 | TH | c.9_10insA (p.Pro4ThrfsTer17) | dbSNP |
11 | g.2171778G>A | CA472019169 | TH | c.9C>T (p.Thr3=) | |
11 | g.2171778G>C | CA472019170 | TH | c.9C>G (p.Thr3=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171778G= | CA1948012137 | TH | c.9C= (p.Thr3=) | |
11 | g.2171778G>T | CA472019171 | TH | c.9C>A (p.Thr3=) | |
11 | g.2171779G>A | CA379112914 | TH | c.8C>T (p.Thr3Ile) | dbSNP gnomAD v2 |
11 | g.2171779G>C | CA379112915 | TH | c.8C>G (p.Thr3Ser) | |
11 | g.2171779G= | CA1948012138 | TH | c.8C= (p.Thr3=) | |
11 | g.2171779G>T | CA379112916 | TH | c.8C>A (p.Thr3Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171780T>A | CA379112917 | TH | c.7A>T (p.Thr3Ser) | |
11 | g.2171780T>C | CA379112918 | TH | c.7A>G (p.Thr3Ala) | |
11 | g.2171780T>G | CA379112919 | TH | c.7A>C (p.Thr3Pro) | dbSNP |
11 | g.2171780T= | CA1948012139 | TH | c.7A= (p.Thr3=) | |
11 | g.2171781G>A | CA472019172 | TH | c.6C>T (p.Pro2=) | ClinVar gnomAD v4 |
11 | g.2171781G>C | CA472019174 | TH | c.6C>G (p.Pro2=) | |
11 | g.2171781G>T | CA472019175 | TH | c.6C>A (p.Pro2=) | gnomAD v4 |
11 | g.2171783del | CA2611984215 | TH | c.6del (p.Thr3ProfsTer?) c.6del (p.Thr3ProfsTer29) | gnomAD v4 |
11 | g.2171782G>A | CA5818895 | TH | c.5C>T (p.Pro2Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171782G>C | CA379112921 | TH | c.5C>G (p.Pro2Arg) | |
11 | g.2171782G= | CA1948012140 | TH | c.5C= (p.Pro2=) | |
11 | g.2171782G>T | CA379112920 | TH | c.5C>A (p.Pro2His) | |
11 | g.2171783G>A | CA379112922 | TH | c.4C>T (p.Pro2Ser) | gnomAD v4 |
11 | g.2171783G>C | CA379112923 | TH | c.4C>G (p.Pro2Ala) | |
11 | g.2171783G= | CA1948012141 | TH | c.4C= (p.Pro2=) | |
11 | g.2171783G>T | CA5818896 | TH | c.4C>A (p.Pro2Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171784C>A | CA379112924 | TH | c.3G>T (p.Met1Ile) | gnomAD v4 |
11 | g.2171784C>G | CA379112925 | TH | c.3G>C (p.Met1Ile) | |
11 | g.2171784C>T | CA379112926 | TH | c.3G>A (p.Met1Ile) | gnomAD v4 |
11 | g.2171785A= | CA1948012143 | TH | c.2T= (p.Met1=) | |
11 | g.2171785A>C | CA379112927 | TH | c.2T>G (p.Met1Arg) | |
11 | g.2171785A>G | CA5818897 | TH | c.2T>C (p.Met1Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171785A>T | CA379112928 | TH | c.2T>A (p.Met1Lys) | |
11 | g.2171786T>A | CA379112931 | TH | c.1A>T (p.Met1Leu) | |
11 | g.2171786T>C | CA379112930 | TH | c.1A>G (p.Met1Val) | |
11 | g.2171786T>G | CA379112929 | TH | c.1A>C (p.Met1Leu) | |
11 | g.2171786dup | CA674605062 | TH | c.1dup (p.Met1AsnfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171787G>T | CA2611984238 | TH | c.-1C>A (n.-1C>A) | gnomAD v4 |
11 | g.2171788G>A | CA2611984239 | TH | c.-2C>T (n.-2C>T) | gnomAD v4 |
11 | g.2171788G>T | CA2590508514 | TH | c.-2C>A (n.-2C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171789C>A | CA2611984244 | TH | c.-3G>T (n.-3G>T) | gnomAD v4 |
11 | g.2171789C= | CA1948012144 | TH | c.-3G= (n.-3G=) | |
11 | g.2171789C>G | CA2611984245 | TH | c.-3G>C (n.-3G>C) | gnomAD v4 |
11 | g.2171789C>T | CA1948012145 | TH | c.-3G>A (n.-3G>A) | dbSNP |
11 | g.2171790T>C | CA2611984248 | TH | c.-4A>G (n.-4A>G) | gnomAD v4 |
11 | g.2171791C>A | CA2611984251 | TH | c.-5G>T (n.-5G>T) | gnomAD v4 |
11 | g.2171791C= | CA1948012146 | TH | c.-5G= (n.-5G=) | |
11 | g.2171791C>T | CA216230152 | TH | c.-5G>A (n.-5G>A) | dbSNP |
11 | g.2171791_2171792del | CA2574757433 | TH | c.-6_-5del (n.-6_-5del) | gnomAD v4 |
11 | g.2171793G>A | CA5818898 | TH | c.-7C>T (n.-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171793G= | CA1948012147 | TH | c.-7C= (n.-7C=) | |
11 | g.2171793G>T | CA2611984254 | TH | c.-7C>A (n.-7C>A) | gnomAD v4 |
11 | g.2171794T>C | CA5818899 | TH | c.-8A>G (n.-8A>G) | dbSNP ExAC gnomAD v2 |
11 | g.2171794T= | CA1948012148 | TH | c.-8A= (n.-8A=) | |
11 | g.2171795G>A | CA2611984257 | TH | c.-9C>T (n.-9C>T) | gnomAD v4 |
11 | g.2171795G>T | CA2611984258 | TH | c.-9C>A (n.-9C>A) | gnomAD v4 |
11 | g.2171796T>C | CA597089931 | TH | c.-10A>G (n.-10A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171796T>G | CA2611984261 | TH | c.-10A>C (n.-10A>C) | gnomAD v4 |
11 | g.2171796T= | CA1948012149 | TH | c.-10A= (n.-10A=) | |
11 | g.2171798del | CA2611984265 | TH | c.-11del (n.-11del) | gnomAD v4 |
11 | g.2171798G>C | CA5818900 | TH | c.-12C>G (n.-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171798G= | CA1948012150 | TH | c.-12C= (n.-12C=) | |
11 | g.2171798G>T | CA597089934 | TH | c.-12C>A (n.-12C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171799A= | CA1948012151 | TH | c.-13T= (n.-13T=) | |
11 | g.2171799A>G | CA1948012152 | TH | c.-13T>C (n.-13T>C) | dbSNP |
11 | g.2171800G>T | CA2611984272 | TH | c.-14C>A (n.-14C>A) | gnomAD v4 |
11 | g.2171801G>T | CA2611984276 | TH | c.-15C>A (n.-15C>A) | gnomAD v4 |
11 | g.2171802T>A | CA5818901 | TH | c.-16A>T (n.-16A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171802T>G | CA1948012154 | TH | c.-16A>C (n.-16A>C) | dbSNP |
11 | g.2171802T= | CA1948012153 | TH | c.-16A= (n.-16A=) | |
11 | g.2171804C>A | CA5818903 | TH | c.-18G>T (n.-18G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171804C= | CA1948012156 | TH | c.-18G= (n.-18G=) | |
11 | g.2171804C>G | CA2611984286 | TH | c.-18G>C (n.-18G>C) | gnomAD v4 |
11 | g.2171804C>T | CA5818902 | TH | c.-18G>A (n.-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171805G>A | CA5818904 | TH | c.-19C>T (n.-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171805G= | CA1948012160 | TH | c.-19C= (n.-19C=) | |
11 | g.2171805G>T | CA2838970861 | TH | c.-19C>A (n.-19C>A) | |
11 | g.2171807dup | CA2841197869 | TH | c.-19dup (n.-19dup) | |
11 | g.2171806G>A | CA5818905 | TH | c.-20C>T (n.-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171806G= | CA1948012162 | TH | c.-20C= (n.-20C=) | |
11 | g.2171806G>T | CA2611984295 | TH | c.-20C>A (n.-20C>A) | gnomAD v4 |
11 | g.2171807G>A | CA2611984296 | TH | c.-21C>T (n.-21C>T) | gnomAD v4 |
11 | g.2171807G>T | CA2611984298 | TH | c.-21C>A (n.-21C>A) | gnomAD v4 |
11 | g.2171808C>A | CA2611984299 | TH | c.-22G>T (n.-22G>T) | gnomAD v4 |
11 | g.2171808C>T | CA2611984301 | TH | c.-22G>A (n.-22G>A) | gnomAD v4 |
11 | g.2171808dup | CA653928694 | TH | c.-22dup (n.-22dup) | COSMIC |
11 | g.2171809T>C | CA5818906 | TH | c.-23A>G (n.-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171809T= | CA1948012164 | TH | c.-23A= (n.-23A=) | |
11 | g.2171811dup | CA5818907 | TH | c.-24dup (n.-24dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171811C>A | CA2611984312 | TH | c.-25G>T (n.-25G>T) | gnomAD v4 |
11 | g.2171811C= | CA1948012167 | TH | c.-25G= (n.-25G=) | |
11 | g.2171811C>G | CA2611984314 | TH | c.-25G>C (n.-25G>C) | gnomAD v4 |
11 | g.2171811C>T | CA5818908 | TH | c.-25G>A (n.-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171812G>A | CA5818909 | TH | c.-26C>T (n.-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171812G= | CA1948012168 | TH | c.-26C= (n.-26C=) | |
11 | g.2171812G>T | CA2611984319 | TH | c.-26C>A (n.-26C>A) | gnomAD v4 |
11 | g.2171813T>C | CA1948012171 | TH | c.-27A>G (n.-27A>G) | dbSNP gnomAD v4 |
11 | g.2171813T= | CA1948012170 | TH | c.-27A= (n.-27A=) | |
11 | g.2171814C>A | CA2611984323 | TH | c.-28G>T (n.-28G>T) | gnomAD v4 |
11 | g.2171817C= | CA1948012172 | TH | c.-31G= (n.-31G=) | |
11 | g.2171817C>T | CA597089962 | TH | c.-31G>A (n.-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171818A>G | CA2611984325 | TH | c.-32T>C (n.-32T>C) | gnomAD v4 |
11 | g.2171819C>A | CA2574757434 | TH | c.-33G>T (n.-33G>T) | |
11 | g.2171819C>T | CA2611984328 | TH | c.-33G>A (n.-33G>A) | gnomAD v4 |
11 | g.2171820A= | CA1948012174 | TH | c.-34T= (n.-34T=) | |
11 | g.2171820A>G | CA2611984333 | TH | c.-34T>C (n.-34T>C) | gnomAD v4 |
11 | g.2171820A>T | CA5818910 | TH | c.-34T>A (n.-34T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171821G>T | CA2611984338 | TH | c.-35C>A (n.-35C>A) | gnomAD v4 |
11 | g.2171822C>A | CA2611984341 | TH | c.-36G>T (n.-36G>T) | gnomAD v4 |
11 | g.2171822C>T | CA2611984343 | TH | c.-36G>A (n.-36G>A) | gnomAD v4 |
11 | g.2171824C>A | CA2574757435 | TH | c.-38G>T (n.-38G>T) | gnomAD v4 |
11 | g.2171824C= | CA1948012179 | TH | c.-38G= (n.-38G=) | |
11 | g.2171824C>T | CA597089965 | TH | c.-38G>A (n.-38G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171826G>T | CA2611984347 | TH | c.-40C>A (n.-40C>A) | gnomAD v4 |
11 | g.2171827G>A | CA2611984348 | TH | c.-41C>T (n.-41C>T) | gnomAD v4 |
11 | g.2171827G>T | CA2611984349 | TH | c.-41C>A (n.-41C>A) | gnomAD v4 |
11 | g.2171828C>T | CA2611984351 | TH | c.-42G>A (n.-42G>A) | gnomAD v4 |
11 | g.2171829C= | CA1948012182 | TH | c.-43G= (n.-43G=) | |
11 | g.2171829C>G | CA674605090 | TH | c.-43G>C (n.-43G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171829C>T | CA597089968 | TH | c.-43G>A (n.-43G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171830C>A | CA2611984354 | TH | c.-44G>T (n.-44G>T) | gnomAD v4 |
11 | g.2171830C= | CA1948012185 | TH | c.-44G= (n.-44G=) | |
11 | g.2171830C>T | CA5818911 | TH | c.-44G>A (n.-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171831A= | CA1948012187 | TH | c.-45T= (n.-45T=) | |
11 | g.2171831A>C | CA5818912 | TH | c.-45T>G (n.-45T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171832G>A | CA2611984359 | TH | c.-46C>T (n.-46C>T) | gnomAD v4 |
11 | g.2171832G= | CA1948012190 | TH | c.-46C= (n.-46C=) | |
11 | g.2171832G>T | CA5818913 | TH | c.-46C>A (n.-46C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171833C>A | CA2611984364 | TH | c.-47G>T (n.-47G>T) | dbSNP gnomAD v4 |
11 | g.2171833C>G | CA2611984365 | TH | c.-47G>C (n.-47G>C) | gnomAD v4 |
11 | g.2171833C>T | CA2611984361 | TH | c.-47G>A (n.-47G>A) | gnomAD v4 |
11 | g.2171834A= | CA1948012192 | TH | c.-48T= (n.-48T=) | |
11 | g.2171834A>G | CA5818914 | TH | c.-48T>C (n.-48T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171835G>A | CA597089979 | TH | c.-49C>T (n.-49C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171835G= | CA1948012194 | TH | c.-49C= (n.-49C=) | |
11 | g.2171835G>T | CA2611984370 | TH | c.-49C>A (n.-49C>A) | gnomAD v4 |
11 | g.2171836C= | CA1948012197 | TH | c.-50G= (n.-50G=) | |
11 | g.2171836C>G | CA934420966 | TH | c.-50G>C (n.-50G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171838T>C | CA2574757436 | TH | c.-52A>G (n.-52A>G) | gnomAD v4 |
11 | g.2171839C>A | CA2838551554 | TH | c.-53G>T (n.-53G>T) | |
11 | g.2171839C>G | CA2611984374 | TH | c.-53G>C (n.-53G>C) | gnomAD v4 |
11 | g.2171839C>T | CA2611984375 | TH | c.-53G>A (n.-53G>A) | gnomAD v4 |
11 | g.2171840T>A | CA2574757437 | TH | c.-54A>T (n.-54A>T) | |
11 | g.2171840_2171841del | CA2611984378 | TH | c.-55_-54del (n.-55_-54del) | gnomAD v4 |
11 | g.2171841del | CA2611984377 | TH | c.-54del (n.-54del) | gnomAD v4 |
11 | g.2171841T>C | CA216230209 | TH | c.-55A>G (n.-55A>G) | dbSNP |
11 | g.2171841T>G | CA2611984383 | TH | c.-55A>C (n.-55A>C) | gnomAD v4 |
11 | g.2171841T= | CA1948012199 | TH | c.-55A= (n.-55A=) |