| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7585666C>A | CA133977960 | DSP | c.7075C>A (p.Leu2359Ile) c.8404C>A (p.Leu2802Ile) c.6607C>A (p.Leu2203Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585666C= | CA1608615234 | DSP | c.7075C= (p.Leu2359=) c.8404C= (p.Leu2802=) c.6607C= (p.Leu2203=) | |
| 6 | g.7585666C>G | CA362695080 | DSP | c.7075C>G (p.Leu2359Val) c.8404C>G (p.Leu2802Val) c.6607C>G (p.Leu2203Val) | |
| 6 | g.7585666C>T | CA052241 | DSP | c.7075C>T (p.Leu2359Phe) c.8404C>T (p.Leu2802Phe) c.6607C>T (p.Leu2203Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585667T>A | CA362695083 | DSP | c.7076T>A (p.Leu2359His) c.8405T>A (p.Leu2802His) c.6608T>A (p.Leu2203His) | |
| 6 | g.7585667T>C | CA362695082 | DSP | c.7076T>C (p.Leu2359Pro) c.8405T>C (p.Leu2802Pro) c.6608T>C (p.Leu2203Pro) | |
| 6 | g.7585667T>G | CA362695081 | DSP | c.7076T>G (p.Leu2359Arg) c.8405T>G (p.Leu2802Arg) c.6608T>G (p.Leu2203Arg) | |
| 6 | g.7585668T>A | CA448717159 | DSP | c.7077T>A (p.Leu2359=) c.8406T>A (p.Leu2802=) c.6609T>A (p.Leu2203=) | |
| 6 | g.7585668T>C | CA448717160 | DSP | c.7077T>C (p.Leu2359=) c.8406T>C (p.Leu2802=) c.6609T>C (p.Leu2203=) | |
| 6 | g.7585668T>G | CA448717161 | DSP | c.7077T>G (p.Leu2359=) c.8406T>G (p.Leu2802=) c.6609T>G (p.Leu2203=) | |
| 6 | g.7585669C>A | CA362695084 | DSP | c.7078C>A (p.Leu2360Met) c.8407C>A (p.Leu2803Met) c.6610C>A (p.Leu2204Met) | |
| 6 | g.7585669C>G | CA362695085 | DSP | c.7078C>G (p.Leu2360Val) c.8407C>G (p.Leu2803Val) c.6610C>G (p.Leu2204Val) | |
| 6 | g.7585669C>T | CA448717163 | DSP | c.7078C>T (p.Leu2360=) c.8407C>T (p.Leu2803=) c.6610C>T (p.Leu2204=) | |
| 6 | g.7585670T>A | CA362695086 | DSP | c.7079T>A (p.Leu2360Gln) c.8408T>A (p.Leu2803Gln) c.6611T>A (p.Leu2204Gln) | dbSNP |
| 6 | g.7585670T>C | CA362695087 | DSP | c.7079T>C (p.Leu2360Pro) c.8408T>C (p.Leu2803Pro) c.6611T>C (p.Leu2204Pro) | dbSNP |
| 6 | g.7585670T>G | CA362695088 | DSP | c.7079T>G (p.Leu2360Arg) c.8408T>G (p.Leu2803Arg) c.6611T>G (p.Leu2204Arg) | |
| 6 | g.7585671G>A | CA448717167 | DSP | c.7080G>A (p.Leu2360=) c.8409G>A (p.Leu2803=) c.6612G>A (p.Leu2204=) | |
| 6 | g.7585671G>C | CA448717166 | DSP | c.7080G>C (p.Leu2360=) c.8409G>C (p.Leu2803=) c.6612G>C (p.Leu2204=) | |
| 6 | g.7585671G>T | CA448717165 | DSP | c.7080G>T (p.Leu2360=) c.8409G>T (p.Leu2803=) c.6612G>T (p.Leu2204=) | |
| 6 | g.7585672G>A | CA362695089 | DSP | c.7081G>A (p.Glu2361Lys) c.8410G>A (p.Glu2804Lys) c.6613G>A (p.Glu2205Lys) | |
| 6 | g.7585672G>C | CA362695090 | DSP | c.7081G>C (p.Glu2361Gln) c.8410G>C (p.Glu2804Gln) c.6613G>C (p.Glu2205Gln) | |
| 6 | g.7585672G>T | CA362695091 | DSP | c.7081G>T (p.Glu2361Ter) c.8410G>T (p.Glu2804Ter) c.6613G>T (p.Glu2205Ter) | |
| 6 | g.7585673A= | CA1608615239 | DSP | c.7082A= (p.Glu2361=) c.8411A= (p.Glu2804=) c.6614A= (p.Glu2205=) | |
| 6 | g.7585673A>C | CA362695092 | DSP | c.7082A>C (p.Glu2361Ala) c.8411A>C (p.Glu2804Ala) c.6614A>C (p.Glu2205Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585673A>G | CA362695093 | DSP | c.7082A>G (p.Glu2361Gly) c.8411A>G (p.Glu2804Gly) c.6614A>G (p.Glu2205Gly) | |
| 6 | g.7585673A>T | CA362695094 | DSP | c.7082A>T (p.Glu2361Val) c.8411A>T (p.Glu2804Val) c.6614A>T (p.Glu2205Val) | |
| 6 | g.7585674A>C | CA362695095 | DSP | c.7083A>C (p.Glu2361Asp) c.8412A>C (p.Glu2804Asp) c.6615A>C (p.Glu2205Asp) | |
| 6 | g.7585674A>G | CA448717168 | DSP | c.7083A>G (p.Glu2361=) c.8412A>G (p.Glu2804=) c.6615A>G (p.Glu2205=) | |
| 6 | g.7585674A>T | CA362695096 | DSP | c.7083A>T (p.Glu2361Asp) c.8412A>T (p.Glu2804Asp) c.6615A>T (p.Glu2205Asp) | |
| 6 | g.7585675G>A | CA362695098 | DSP | c.7084G>A (p.Ala2362Thr) c.8413G>A (p.Ala2805Thr) c.6616G>A (p.Ala2206Thr) | gnomAD v4 |
| 6 | g.7585675G>C | CA362695099 | DSP | c.7084G>C (p.Ala2362Pro) c.8413G>C (p.Ala2805Pro) c.6616G>C (p.Ala2206Pro) | |
| 6 | g.7585675G>T | CA362695097 | DSP | c.7084G>T (p.Ala2362Ser) c.8413G>T (p.Ala2805Ser) c.6616G>T (p.Ala2206Ser) | |
| 6 | g.7585676C>A | CA362695100 | DSP | c.7085C>A (p.Ala2362Asp) c.8414C>A (p.Ala2805Asp) c.6617C>A (p.Ala2206Asp) | |
| 6 | g.7585676C= | CA1608615244 | DSP | c.7085C= (p.Ala2362=) c.8414C= (p.Ala2805=) c.6617C= (p.Ala2206=) | |
| 6 | g.7585676C>G | CA362695101 | DSP | c.7085C>G (p.Ala2362Gly) c.8414C>G (p.Ala2805Gly) c.6617C>G (p.Ala2206Gly) | ClinVar gnomAD v4 |
| 6 | g.7585676C>T | CA052251 | DSP | c.7085C>T (p.Ala2362Val) c.8414C>T (p.Ala2805Val) c.6617C>T (p.Ala2206Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585677C>A | CA448717170 | DSP | c.7086C>A (p.Ala2362=) c.8415C>A (p.Ala2805=) c.6618C>A (p.Ala2206=) | |
| 6 | g.7585677C= | CA1608615252 | DSP | c.7086C= (p.Ala2362=) c.8415C= (p.Ala2805=) c.6618C= (p.Ala2206=) | |
| 6 | g.7585677C>G | CA448717171 | DSP | c.7086C>G (p.Ala2362=) c.8415C>G (p.Ala2805=) c.6618C>G (p.Ala2206=) | |
| 6 | g.7585677C>T | CA007523 | DSP | c.7086C>T (p.Ala2362=) c.8415C>T (p.Ala2805=) c.6618C>T (p.Ala2206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585678G>A | CA133977982 | DSP | c.7087G>A (p.Ala2363Thr) c.8416G>A (p.Ala2806Thr) c.6619G>A (p.Ala2207Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585678G>C | CA362695102 | DSP | c.7087G>C (p.Ala2363Pro) c.8416G>C (p.Ala2806Pro) c.6619G>C (p.Ala2207Pro) | gnomAD v4 |
| 6 | g.7585678G= | CA1608615260 | DSP | c.7087G= (p.Ala2363=) c.8416G= (p.Ala2806=) c.6619G= (p.Ala2207=) | |
| 6 | g.7585678G>T | CA362695103 | DSP | c.7087G>T (p.Ala2363Ser) c.8416G>T (p.Ala2806Ser) c.6619G>T (p.Ala2207Ser) | |
| 6 | g.7585679C>A | CA362695104 | DSP | c.7088C>A (p.Ala2363Asp) c.8417C>A (p.Ala2806Asp) c.6620C>A (p.Ala2207Asp) | |
| 6 | g.7585679C>G | CA362695105 | DSP | c.7088C>G (p.Ala2363Gly) c.8417C>G (p.Ala2806Gly) c.6620C>G (p.Ala2207Gly) | |
| 6 | g.7585679C>T | CA362695106 | DSP | c.7088C>T (p.Ala2363Val) c.8417C>T (p.Ala2806Val) c.6620C>T (p.Ala2207Val) | ClinVar |
| 6 | g.7585680C>A | CA448717173 | DSP | c.7089C>A (p.Ala2363=) c.8418C>A (p.Ala2806=) c.6621C>A (p.Ala2207=) | ClinVar dbSNP |
| 6 | g.7585680C= | CA1608615270 | DSP | c.7089C= (p.Ala2363=) c.8418C= (p.Ala2806=) c.6621C= (p.Ala2207=) | |
| 6 | g.7585680C>G | CA448717174 | DSP | c.7089C>G (p.Ala2363=) c.8418C>G (p.Ala2806=) c.6621C>G (p.Ala2207=) | |
| 6 | g.7585680C>T | CA448717175 | DSP | c.7089C>T (p.Ala2363=) c.8418C>T (p.Ala2806=) c.6621C>T (p.Ala2207=) | |
| 6 | g.7585681T>A | CA362695107 | DSP | c.7090T>A (p.Ser2364Thr) c.8419T>A (p.Ser2807Thr) c.6622T>A (p.Ser2208Thr) | |
| 6 | g.7585681T>C | CA362695108 | DSP | c.7090T>C (p.Ser2364Pro) c.8419T>C (p.Ser2807Pro) c.6622T>C (p.Ser2208Pro) | ClinVar |
| 6 | g.7585681T>G | CA362695109 | DSP | c.7090T>G (p.Ser2364Ala) c.8419T>G (p.Ser2807Ala) c.6622T>G (p.Ser2208Ala) | |
| 6 | g.7585682C>A | CA362695110 | DSP | c.7091C>A (p.Ser2364Tyr) c.8420C>A (p.Ser2807Tyr) c.6623C>A (p.Ser2208Tyr) | |
| 6 | g.7585682C>G | CA362695112 | DSP | c.7091C>G (p.Ser2364Cys) c.8420C>G (p.Ser2807Cys) c.6623C>G (p.Ser2208Cys) | |
| 6 | g.7585682C>T | CA362695111 | DSP | c.7091C>T (p.Ser2364Phe) c.8420C>T (p.Ser2807Phe) c.6623C>T (p.Ser2208Phe) | |
| 6 | g.7585683C>A | CA448717176 | DSP | c.7092C>A (p.Ser2364=) c.8421C>A (p.Ser2807=) c.6624C>A (p.Ser2208=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585683C= | CA1608615279 | DSP | c.7092C= (p.Ser2364=) c.8421C= (p.Ser2807=) c.6624C= (p.Ser2208=) | |
| 6 | g.7585683C>G | CA448717177 | DSP | c.7092C>G (p.Ser2364=) c.8421C>G (p.Ser2807=) c.6624C>G (p.Ser2208=) | |
| 6 | g.7585683C>T | CA052285 | DSP | c.7092C>T (p.Ser2364=) c.8421C>T (p.Ser2807=) c.6624C>T (p.Ser2208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7585684G>A | CA052294 | DSP | c.7093G>A (p.Val2365Met) c.8422G>A (p.Val2808Met) c.6625G>A (p.Val2209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585684G>C | CA362695113 | DSP | c.7093G>C (p.Val2365Leu) c.8422G>C (p.Val2808Leu) c.6625G>C (p.Val2209Leu) | gnomAD v4 |
| 6 | g.7585684G= | CA1608615283 | DSP | c.7093G= (p.Val2365=) c.8422G= (p.Val2808=) c.6625G= (p.Val2209=) | |
| 6 | g.7585684G>T | CA362695114 | DSP | c.7093G>T (p.Val2365Leu) c.8422G>T (p.Val2808Leu) c.6625G>T (p.Val2209Leu) | |
| 6 | g.7585685T>A | CA362695115 | DSP | c.7094T>A (p.Val2365Glu) c.8423T>A (p.Val2808Glu) c.6626T>A (p.Val2209Glu) | |
| 6 | g.7585685T>C | CA362695116 | DSP | c.7094T>C (p.Val2365Ala) c.8423T>C (p.Val2808Ala) c.6626T>C (p.Val2209Ala) | |
| 6 | g.7585685T>G | CA362695117 | DSP | c.7094T>G (p.Val2365Gly) c.8423T>G (p.Val2808Gly) c.6626T>G (p.Val2209Gly) | |
| 6 | g.7585686G>A | CA448717181 | DSP | c.7095G>A (p.Val2365=) c.8424G>A (p.Val2808=) c.6627G>A (p.Val2209=) | |
| 6 | g.7585686G>C | CA448717183 | DSP | c.7095G>C (p.Val2365=) c.8424G>C (p.Val2808=) c.6627G>C (p.Val2209=) | |
| 6 | g.7585686G>T | CA448717182 | DSP | c.7095G>T (p.Val2365=) c.8424G>T (p.Val2808=) c.6627G>T (p.Val2209=) | |
| 6 | g.7585687T>A | CA362695118 | DSP | c.7096T>A (p.Ser2366Thr) c.8425T>A (p.Ser2809Thr) c.6628T>A (p.Ser2210Thr) | |
| 6 | g.7585687T>C | CA362695119 | DSP | c.7096T>C (p.Ser2366Pro) c.8425T>C (p.Ser2809Pro) c.6628T>C (p.Ser2210Pro) | |
| 6 | g.7585687T>G | CA362695120 | DSP | c.7096T>G (p.Ser2366Ala) c.8425T>G (p.Ser2809Ala) c.6628T>G (p.Ser2210Ala) | |
| 6 | g.7585688C>A | CA362695122 | DSP | c.7097C>A (p.Ser2366Ter) c.8426C>A (p.Ser2809Ter) c.6629C>A (p.Ser2210Ter) | |
| 6 | g.7585688C= | CA1608615293 | DSP | c.7097C= (p.Ser2366=) c.8426C= (p.Ser2809=) c.6629C= (p.Ser2210=) | |
| 6 | g.7585688C>G | CA362695123 | DSP | c.7097C>G (p.Ser2366Trp) c.8426C>G (p.Ser2809Trp) c.6629C>G (p.Ser2210Trp) | gnomAD v4 |
| 6 | g.7585688C>T | CA362695121 | DSP | c.7097C>T (p.Ser2366Leu) c.8426C>T (p.Ser2809Leu) c.6629C>T (p.Ser2210Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585689G>A | CA448717184 | DSP | c.7098G>A (p.Ser2366=) c.8427G>A (p.Ser2809=) c.6630G>A (p.Ser2210=) | dbSNP gnomAD v2 |
| 6 | g.7585689G>C | CA448717185 | DSP | c.7098G>C (p.Ser2366=) c.8427G>C (p.Ser2809=) c.6630G>C (p.Ser2210=) | |
| 6 | g.7585689G= | CA1608615295 | DSP | c.7098G= (p.Ser2366=) c.8427G= (p.Ser2809=) c.6630G= (p.Ser2210=) | |
| 6 | g.7585689G>T | CA448717186 | DSP | c.7098G>T (p.Ser2366=) c.8427G>T (p.Ser2809=) c.6630G>T (p.Ser2210=) | dbSNP |
| 6 | g.7585690T>A | CA362695126 | DSP | c.7099T>A (p.Ser2367Thr) c.8428T>A (p.Ser2810Thr) c.6631T>A (p.Ser2211Thr) | |
| 6 | g.7585690T>C | CA362695124 | DSP | c.7099T>C (p.Ser2367Pro) c.8428T>C (p.Ser2810Pro) c.6631T>C (p.Ser2211Pro) | gnomAD v4 |
| 6 | g.7585690T>G | CA362695125 | DSP | c.7099T>G (p.Ser2367Ala) c.8428T>G (p.Ser2810Ala) c.6631T>G (p.Ser2211Ala) | |
| 6 | g.7585691C>A | CA362695127 | DSP | c.7100C>A (p.Ser2367Tyr) c.8429C>A (p.Ser2810Tyr) c.6632C>A (p.Ser2211Tyr) | |
| 6 | g.7585691C= | CA1608615300 | DSP | c.7100C= (p.Ser2367=) c.8429C= (p.Ser2810=) c.6632C= (p.Ser2211=) | |
| 6 | g.7585691C>G | CA362695128 | DSP | c.7100C>G (p.Ser2367Cys) c.8429C>G (p.Ser2810Cys) c.6632C>G (p.Ser2211Cys) | |
| 6 | g.7585691C>T | CA362695129 | DSP | c.7100C>T (p.Ser2367Phe) c.8429C>T (p.Ser2810Phe) c.6632C>T (p.Ser2211Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585692C>A | CA448717190 | DSP | c.7101C>A (p.Ser2367=) c.8430C>A (p.Ser2810=) c.6633C>A (p.Ser2211=) | ClinVar dbSNP |
| 6 | g.7585692C= | CA1608615308 | DSP | c.7101C= (p.Ser2367=) c.8430C= (p.Ser2810=) c.6633C= (p.Ser2211=) | |
| 6 | g.7585692C>G | CA448717191 | DSP | c.7101C>G (p.Ser2367=) c.8430C>G (p.Ser2810=) c.6633C>G (p.Ser2211=) | |
| 6 | g.7585692C>T | CA448717192 | DSP | c.7101C>T (p.Ser2367=) c.8430C>T (p.Ser2810=) c.6633C>T (p.Ser2211=) | ClinVar dbSNP |
| 6 | g.7585693A= | CA1608615311 | DSP | c.7102A= (p.Lys2368=) c.8431A= (p.Lys2811=) c.6634A= (p.Lys2212=) | |
| 6 | g.7585693A>C | CA362695131 | DSP | c.7102A>C (p.Lys2368Gln) c.8431A>C (p.Lys2811Gln) c.6634A>C (p.Lys2212Gln) | |
| 6 | g.7585693A>G | CA052305 | DSP | c.7102A>G (p.Lys2368Glu) c.8431A>G (p.Lys2811Glu) c.6634A>G (p.Lys2212Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585693A>T | CA362695130 | DSP | c.7102A>T (p.Lys2368Ter) c.8431A>T (p.Lys2811Ter) c.6634A>T (p.Lys2212Ter) | |
| 6 | g.7585694A>C | CA362695132 | DSP | c.7103A>C (p.Lys2368Thr) c.8432A>C (p.Lys2811Thr) c.6635A>C (p.Lys2212Thr) | ClinVar |
| 6 | g.7585694A>G | CA362695133 | DSP | c.7103A>G (p.Lys2368Arg) c.8432A>G (p.Lys2811Arg) c.6635A>G (p.Lys2212Arg) | |
| 6 | g.7585694A>T | CA362695134 | DSP | c.7103A>T (p.Lys2368Met) c.8432A>T (p.Lys2811Met) c.6635A>T (p.Lys2212Met) | |
| 6 | g.7585695G>A | CA052317 | DSP | c.7104G>A (p.Lys2368=) c.8433G>A (p.Lys2811=) c.6636G>A (p.Lys2212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585695G>C | CA362695135 | DSP | c.7104G>C (p.Lys2368Asn) c.8433G>C (p.Lys2811Asn) c.6636G>C (p.Lys2212Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585695G= | CA1608615326 | DSP | c.7104G= (p.Lys2368=) c.8433G= (p.Lys2811=) c.6636G= (p.Lys2212=) | |
| 6 | g.7585695G>T | CA362695136 | DSP | c.7104G>T (p.Lys2368Asn) c.8433G>T (p.Lys2811Asn) c.6636G>T (p.Lys2212Asn) | |
| 6 | g.7585696G>A | CA362695137 | DSP | c.7105G>A (p.Gly2369Ser) c.8434G>A (p.Gly2812Ser) c.6637G>A (p.Gly2213Ser) | ClinVar |
| 6 | g.7585696G>C | CA362695139 | DSP | c.7105G>C (p.Gly2369Arg) c.8434G>C (p.Gly2812Arg) c.6637G>C (p.Gly2213Arg) | |
| 6 | g.7585696G>T | CA362695138 | DSP | c.7105G>T (p.Gly2369Cys) c.8434G>T (p.Gly2812Cys) c.6637G>T (p.Gly2213Cys) | |
| 6 | g.7585697G>A | CA362695140 | DSP | c.7106G>A (p.Gly2369Asp) c.8435G>A (p.Gly2812Asp) c.6638G>A (p.Gly2213Asp) | |
| 6 | g.7585697G>C | CA362695141 | DSP | c.7106G>C (p.Gly2369Ala) c.8435G>C (p.Gly2812Ala) c.6638G>C (p.Gly2213Ala) | |
| 6 | g.7585697G>T | CA362695142 | DSP | c.7106G>T (p.Gly2369Val) c.8435G>T (p.Gly2812Val) c.6638G>T (p.Gly2213Val) | |
| 6 | g.7585698C>A | CA448717194 | DSP | c.7107C>A (p.Gly2369=) c.8436C>A (p.Gly2812=) c.6639C>A (p.Gly2213=) | |
| 6 | g.7585698C= | CA1608615334 | DSP | c.7107C= (p.Gly2369=) c.8436C= (p.Gly2812=) c.6639C= (p.Gly2213=) | |
| 6 | g.7585698C>G | CA448717195 | DSP | c.7107C>G (p.Gly2369=) c.8436C>G (p.Gly2812=) c.6639C>G (p.Gly2213=) | |
| 6 | g.7585698C>T | CA448717196 | DSP | c.7107C>T (p.Gly2369=) c.8436C>T (p.Gly2812=) c.6639C>T (p.Gly2213=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585699T>A | CA362695143 | DSP | c.7108T>A (p.Leu2370Ile) c.8437T>A (p.Leu2813Ile) c.6640T>A (p.Leu2214Ile) | |
| 6 | g.7585699T>C | CA448717197 | DSP | c.7108T>C (p.Leu2370=) c.8437T>C (p.Leu2813=) c.6640T>C (p.Leu2214=) | |
| 6 | g.7585699T>G | CA362695144 | DSP | c.7108T>G (p.Leu2370Val) c.8437T>G (p.Leu2813Val) c.6640T>G (p.Leu2214Val) | |
| 6 | g.7585700T>A | CA362695145 | DSP | c.7109T>A (p.Leu2370Ter) c.8438T>A (p.Leu2813Ter) c.6641T>A (p.Leu2214Ter) | |
| 6 | g.7585700T>C | CA362695146 | DSP | c.7109T>C (p.Leu2370Ser) c.8438T>C (p.Leu2813Ser) c.6641T>C (p.Leu2214Ser) | ClinVar |
| 6 | g.7585700T>G | CA362695147 | DSP | c.7109T>G (p.Leu2370Ter) c.8438T>G (p.Leu2813Ter) c.6641T>G (p.Leu2214Ter) | |
| 6 | g.7585701A= | CA1608615337 | DSP | c.7110A= (p.Leu2370=) c.8439A= (p.Leu2813=) c.6642A= (p.Leu2214=) | |
| 6 | g.7585701A>C | CA362695148 | DSP | c.7110A>C (p.Leu2370Phe) c.8439A>C (p.Leu2813Phe) c.6642A>C (p.Leu2214Phe) | |
| 6 | g.7585701A>G | CA448717198 | DSP | c.7110A>G (p.Leu2370=) c.8439A>G (p.Leu2813=) c.6642A>G (p.Leu2214=) | |
| 6 | g.7585701A>T | CA362695149 | DSP | c.7110A>T (p.Leu2370Phe) c.8439A>T (p.Leu2813Phe) c.6642A>T (p.Leu2214Phe) | |
| 6 | g.7585702C>A | CA362695152 | DSP | c.7111C>A (p.Pro2371Thr) c.8440C>A (p.Pro2814Thr) c.6643C>A (p.Pro2215Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585702C= | CA1608615347 | DSP | c.7111C= (p.Pro2371=) c.8440C= (p.Pro2814=) c.6643C= (p.Pro2215=) | |
| 6 | g.7585702C>G | CA362695151 | DSP | c.7111C>G (p.Pro2371Ala) c.8440C>G (p.Pro2814Ala) c.6643C>G (p.Pro2215Ala) | |
| 6 | g.7585702C>T | CA362695150 | DSP | c.7111C>T (p.Pro2371Ser) c.8440C>T (p.Pro2814Ser) c.6643C>T (p.Pro2215Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585704dup | CA16618329 | DSP | c.7113dup (p.Ser2372GlnfsTer?) c.8442dup (p.Ser2815GlnfsTer?) c.6645dup (p.Ser2216GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585703C>A | CA362695153 | DSP | c.7112C>A (p.Pro2371His) c.8441C>A (p.Pro2814His) c.6644C>A (p.Pro2215His) | |
| 6 | g.7585703C= | CA1608615357 | DSP | c.7112C= (p.Pro2371=) c.8441C= (p.Pro2814=) c.6644C= (p.Pro2215=) | |
| 6 | g.7585703C>G | CA052332 | DSP | c.7112C>G (p.Pro2371Arg) c.8441C>G (p.Pro2814Arg) c.6644C>G (p.Pro2215Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585703C>T | CA362695154 | DSP | c.7112C>T (p.Pro2371Leu) c.8441C>T (p.Pro2814Leu) c.6644C>T (p.Pro2215Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585704C>A | CA448717200 | DSP | c.7113C>A (p.Pro2371=) c.8442C>A (p.Pro2814=) c.6645C>A (p.Pro2215=) | ClinVar dbSNP |
| 6 | g.7585704C= | CA1608615367 | DSP | c.7113C= (p.Pro2371=) c.8442C= (p.Pro2814=) c.6645C= (p.Pro2215=) | |
| 6 | g.7585704C>G | CA448717201 | DSP | c.7113C>G (p.Pro2371=) c.8442C>G (p.Pro2814=) c.6645C>G (p.Pro2215=) | |
| 6 | g.7585704C>T | CA448717202 | DSP | c.7113C>T (p.Pro2371=) c.8442C>T (p.Pro2814=) c.6645C>T (p.Pro2215=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585705A>C | CA362695155 | DSP | c.7114A>C (p.Ser2372Arg) c.8443A>C (p.Ser2815Arg) c.6646A>C (p.Ser2216Arg) | |
| 6 | g.7585705A>G | CA362695156 | DSP | c.7114A>G (p.Ser2372Gly) c.8443A>G (p.Ser2815Gly) c.6646A>G (p.Ser2216Gly) | |
| 6 | g.7585705A>T | CA362695157 | DSP | c.7114A>T (p.Ser2372Cys) c.8443A>T (p.Ser2815Cys) c.6646A>T (p.Ser2216Cys) | |
| 6 | g.7585706G>A | CA362695160 | DSP | c.7115G>A (p.Ser2372Asn) c.8444G>A (p.Ser2815Asn) c.6647G>A (p.Ser2216Asn) | |
| 6 | g.7585706G>C | CA362695158 | DSP | c.7115G>C (p.Ser2372Thr) c.8444G>C (p.Ser2815Thr) c.6647G>C (p.Ser2216Thr) | |
| 6 | g.7585706G>T | CA362695159 | DSP | c.7115G>T (p.Ser2372Ile) c.8444G>T (p.Ser2815Ile) c.6647G>T (p.Ser2216Ile) | ClinVar gnomAD v4 COSMIC |
| 6 | g.7585707C>A | CA362695161 | DSP | c.7116C>A (p.Ser2372Arg) c.8445C>A (p.Ser2815Arg) c.6648C>A (p.Ser2216Arg) | |
| 6 | g.7585707C= | CA1608615380 | DSP | c.7116C= (p.Ser2372=) c.8445C= (p.Ser2815=) c.6648C= (p.Ser2216=) | |
| 6 | g.7585707C>G | CA362695162 | DSP | c.7116C>G (p.Ser2372Arg) c.8445C>G (p.Ser2815Arg) c.6648C>G (p.Ser2216Arg) | |
| 6 | g.7585707C>T | CA448717203 | DSP | c.7116C>T (p.Ser2372=) c.8445C>T (p.Ser2815=) c.6648C>T (p.Ser2216=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585707_7585711del | CA2541898258 | DSP | c.7116_7120del (p.Ser2372ArgfsTer?) c.8445_8449del (p.Ser2815ArgfsTer?) c.6648_6652del (p.Ser2216ArgfsTer?) | |
| 6 | g.7585708C>A | CA362695163 | DSP | c.7117C>A (p.Pro2373Thr) c.8446C>A (p.Pro2816Thr) c.6649C>A (p.Pro2217Thr) | |
| 6 | g.7585708C>G | CA362695164 | DSP | c.7117C>G (p.Pro2373Ala) c.8446C>G (p.Pro2816Ala) c.6649C>G (p.Pro2217Ala) | |
| 6 | g.7585708C>T | CA362695165 | DSP | c.7117C>T (p.Pro2373Ser) c.8446C>T (p.Pro2816Ser) c.6649C>T (p.Pro2217Ser) | |
| 6 | g.7585709C>A | CA362695166 | DSP | c.7118C>A (p.Pro2373His) c.8447C>A (p.Pro2816His) c.6650C>A (p.Pro2217His) | |
| 6 | g.7585709C>G | CA362695168 | DSP | c.7118C>G (p.Pro2373Arg) c.8447C>G (p.Pro2816Arg) c.6650C>G (p.Pro2217Arg) | |
| 6 | g.7585709C>T | CA362695167 | DSP | c.7118C>T (p.Pro2373Leu) c.8447C>T (p.Pro2816Leu) c.6650C>T (p.Pro2217Leu) | |
| 6 | g.7585710T>A | CA448717206 | DSP | c.7119T>A (p.Pro2373=) c.8448T>A (p.Pro2816=) c.6651T>A (p.Pro2217=) | |
| 6 | g.7585710T>C | CA448717205 | DSP | c.7119T>C (p.Pro2373=) c.8448T>C (p.Pro2816=) c.6651T>C (p.Pro2217=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585710T>G | CA448717204 | DSP | c.7119T>G (p.Pro2373=) c.8448T>G (p.Pro2816=) c.6651T>G (p.Pro2217=) | |
| 6 | g.7585710T= | CA1608615384 | DSP | c.7119T= (p.Pro2373=) c.8448T= (p.Pro2816=) c.6651T= (p.Pro2217=) | |
| 6 | g.7585711T>A | CA362695169 | DSP | c.7120T>A (p.Tyr2374Asn) c.8449T>A (p.Tyr2817Asn) c.6652T>A (p.Tyr2218Asn) | gnomAD v4 |
| 6 | g.7585711T>C | CA362695170 | DSP | c.7120T>C (p.Tyr2374His) c.8449T>C (p.Tyr2817His) c.6652T>C (p.Tyr2218His) | |
| 6 | g.7585711T>G | CA362695171 | DSP | c.7120T>G (p.Tyr2374Asp) c.8449T>G (p.Tyr2817Asp) c.6652T>G (p.Tyr2218Asp) | gnomAD v4 |
| 6 | g.7585711_7585719delinsTACAACATG | CA1608615389 | DSP | c.7120_7128delinsTACAACATG (p.Tyr2374=) c.8449_8457delinsTACAACATG (p.Tyr2817=) c.6652_6660delinsTACAACATG (p.Tyr2218=) | |
| 6 | g.7585712A>C | CA362695172 | DSP | c.7121A>C (p.Tyr2374Ser) c.8450A>C (p.Tyr2817Ser) c.6653A>C (p.Tyr2218Ser) | |
| 6 | g.7585712A>G | CA362695173 | DSP | c.7121A>G (p.Tyr2374Cys) c.8450A>G (p.Tyr2817Cys) c.6653A>G (p.Tyr2218Cys) | ClinVar gnomAD v4 |
| 6 | g.7585712A>T | CA362695174 | DSP | c.7121A>T (p.Tyr2374Phe) c.8450A>T (p.Tyr2817Phe) c.6653A>T (p.Tyr2218Phe) | |
| 6 | g.7585715_7585717del | CA2578524531 | DSP | c.7124_7126del (p.Asn2375del) c.8453_8455del (p.Asn2818del) c.6656_6658del (p.Asn2219del) | ClinVar gnomAD v4 |
| 6 | g.7585712_7585719del | CA565358227 | DSP | c.7121_7128del (p.Tyr2374PhefsTer?) c.8450_8457del (p.Tyr2817PhefsTer?) c.6653_6660del (p.Tyr2218PhefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585713C>A | CA362695175 | DSP | c.7122C>A (p.Tyr2374Ter) c.8451C>A (p.Tyr2817Ter) c.6654C>A (p.Tyr2218Ter) | gnomAD v4 |
| 6 | g.7585713C>G | CA362695176 | DSP | c.7122C>G (p.Tyr2374Ter) c.8451C>G (p.Tyr2817Ter) c.6654C>G (p.Tyr2218Ter) | |
| 6 | g.7585713C>T | CA448717210 | DSP | c.7122C>T (p.Tyr2374=) c.8451C>T (p.Tyr2817=) c.6654C>T (p.Tyr2218=) | ClinVar |
| 6 | g.7585714A>C | CA362695177 | DSP | c.7123A>C (p.Asn2375His) c.8452A>C (p.Asn2818His) c.6655A>C (p.Asn2219His) | |
| 6 | g.7585714A>G | CA362695178 | DSP | c.7123A>G (p.Asn2375Asp) c.8452A>G (p.Asn2818Asp) c.6655A>G (p.Asn2219Asp) | |
| 6 | g.7585714A>T | CA362695179 | DSP | c.7123A>T (p.Asn2375Tyr) c.8452A>T (p.Asn2818Tyr) c.6655A>T (p.Asn2219Tyr) | |
| 6 | g.7585715A= | CA1608615398 | DSP | c.7124A= (p.Asn2375=) c.8453A= (p.Asn2818=) c.6656A= (p.Asn2219=) | |
| 6 | g.7585715A>C | CA362695182 | DSP | c.7124A>C (p.Asn2375Thr) c.8453A>C (p.Asn2818Thr) c.6656A>C (p.Asn2219Thr) | |
| 6 | g.7585715A>G | CA362695181 | DSP | c.7124A>G (p.Asn2375Ser) c.8453A>G (p.Asn2818Ser) c.6656A>G (p.Asn2219Ser) | |
| 6 | g.7585715A>T | CA362695180 | DSP | c.7124A>T (p.Asn2375Ile) c.8453A>T (p.Asn2818Ile) c.6656A>T (p.Asn2219Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585716C>A | CA362695183 | DSP | c.7125C>A (p.Asn2375Lys) c.8454C>A (p.Asn2818Lys) c.6657C>A (p.Asn2219Lys) | |
| 6 | g.7585716C= | CA1608615402 | DSP | c.7125C= (p.Asn2375=) c.8454C= (p.Asn2818=) c.6657C= (p.Asn2219=) | |
| 6 | g.7585716C>G | CA362695184 | DSP | c.7125C>G (p.Asn2375Lys) c.8454C>G (p.Asn2818Lys) c.6657C>G (p.Asn2219Lys) | |
| 6 | g.7585716C>T | CA052340 | DSP | c.7125C>T (p.Asn2375=) c.8454C>T (p.Asn2818=) c.6657C>T (p.Asn2219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585717A= | CA1608615408 | DSP | c.7126A= (p.Met2376=) c.8455A= (p.Met2819=) c.6658A= (p.Met2220=) | |
| 6 | g.7585717A>C | CA007553 | DSP | c.7126A>C (p.Met2376Leu) c.8455A>C (p.Met2819Leu) c.6658A>C (p.Met2220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585717A>G | CA362695186 | DSP | c.7126A>G (p.Met2376Val) c.8455A>G (p.Met2819Val) c.6658A>G (p.Met2220Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585717A>T | CA362695185 | DSP | c.7126A>T (p.Met2376Leu) c.8455A>T (p.Met2819Leu) c.6658A>T (p.Met2220Leu) | |
| 6 | g.7585718T>A | CA362695187 | DSP | c.7127T>A (p.Met2376Lys) c.8456T>A (p.Met2819Lys) c.6659T>A (p.Met2220Lys) | |
| 6 | g.7585718T>C | CA362695189 | DSP | c.7127T>C (p.Met2376Thr) c.8456T>C (p.Met2819Thr) c.6659T>C (p.Met2220Thr) | gnomAD v4 |
| 6 | g.7585718T>G | CA362695188 | DSP | c.7127T>G (p.Met2376Arg) c.8456T>G (p.Met2819Arg) c.6659T>G (p.Met2220Arg) | |
| 6 | g.7585719G>A | CA362695190 | DSP | c.7128G>A (p.Met2376Ile) c.8457G>A (p.Met2819Ile) c.6660G>A (p.Met2220Ile) | |
| 6 | g.7585719G>C | CA362695191 | DSP | c.7128G>C (p.Met2376Ile) c.8457G>C (p.Met2819Ile) c.6660G>C (p.Met2220Ile) | |
| 6 | g.7585719G>T | CA362695192 | DSP | c.7128G>T (p.Met2376Ile) c.8457G>T (p.Met2819Ile) c.6660G>T (p.Met2220Ile) | |
| 6 | g.7585720T>A | CA362695193 | DSP | c.7129T>A (p.Ser2377Thr) c.8458T>A (p.Ser2820Thr) c.6661T>A (p.Ser2221Thr) | |
| 6 | g.7585720T>C | CA362695194 | DSP | c.7129T>C (p.Ser2377Pro) c.8458T>C (p.Ser2820Pro) c.6661T>C (p.Ser2221Pro) | |
| 6 | g.7585720T>G | CA362695195 | DSP | c.7129T>G (p.Ser2377Ala) c.8458T>G (p.Ser2820Ala) c.6661T>G (p.Ser2221Ala) | |
| 6 | g.7585721C>A | CA362695196 | DSP | c.7130C>A (p.Ser2377Tyr) c.8459C>A (p.Ser2820Tyr) c.6662C>A (p.Ser2221Tyr) | |
| 6 | g.7585721C= | CA1608615418 | DSP | c.7130C= (p.Ser2377=) c.8459C= (p.Ser2820=) c.6662C= (p.Ser2221=) | |
| 6 | g.7585721C>G | CA362695197 | DSP | c.7130C>G (p.Ser2377Cys) c.8459C>G (p.Ser2820Cys) c.6662C>G (p.Ser2221Cys) | |
| 6 | g.7585721C>T | CA052357 | DSP | c.7130C>T (p.Ser2377Phe) c.8459C>T (p.Ser2820Phe) c.6662C>T (p.Ser2221Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585722T>A | CA448717212 | DSP | c.7131T>A (p.Ser2377=) c.8460T>A (p.Ser2820=) c.6663T>A (p.Ser2221=) | |
| 6 | g.7585722T>C | CA448717213 | DSP | c.7131T>C (p.Ser2377=) c.8460T>C (p.Ser2820=) c.6663T>C (p.Ser2221=) | |
| 6 | g.7585722T>G | CA448717214 | DSP | c.7131T>G (p.Ser2377=) c.8460T>G (p.Ser2820=) c.6663T>G (p.Ser2221=) | |
| 6 | g.7585723T>A | CA362695198 | DSP | c.7132T>A (p.Ser2378Thr) c.8461T>A (p.Ser2821Thr) c.6664T>A (p.Ser2222Thr) | |
| 6 | g.7585723T>C | CA362695199 | DSP | c.7132T>C (p.Ser2378Pro) c.8461T>C (p.Ser2821Pro) c.6664T>C (p.Ser2222Pro) | |
| 6 | g.7585723T>G | CA362695200 | DSP | c.7132T>G (p.Ser2378Ala) c.8461T>G (p.Ser2821Ala) c.6664T>G (p.Ser2222Ala) | |
| 6 | g.7585724C>A | CA362695202 | DSP | c.7133C>A (p.Ser2378Ter) c.8462C>A (p.Ser2821Ter) c.6665C>A (p.Ser2222Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585724C= | CA1608615425 | DSP | c.7133C= (p.Ser2378=) c.8462C= (p.Ser2821=) c.6665C= (p.Ser2222=) | |
| 6 | g.7585724C>G | CA362695201 | DSP | c.7133C>G (p.Ser2378Trp) c.8462C>G (p.Ser2821Trp) c.6665C>G (p.Ser2222Trp) | |
| 6 | g.7585724C>T | CA007566 | DSP | c.7133C>T (p.Ser2378Leu) c.8462C>T (p.Ser2821Leu) c.6665C>T (p.Ser2222Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7585724_7585725del | CA2573052742 | DSP | c.7133_7134del (p.Ser2378CysfsTer30) c.8462_8463del (p.Ser2821CysfsTer30) c.6665_6666del (p.Ser2222CysfsTer30) | ClinVar dbSNP |
| 6 | g.7585725_7585737dup | CA2578524532 | DSP | c.7134_7146dup (p.Arg2383GlyfsTer30) c.8463_8475dup (p.Arg2826GlyfsTer30) c.6666_6678dup (p.Arg2227GlyfsTer30) | |
| 6 | g.7585731_7585749del | CA2573140825 | DSP | c.7140_7158del (p.Gly2381AlafsTer?) c.8469_8487del (p.Gly2824AlafsTer?) c.6672_6690del (p.Gly2225AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585725G>A | CA448717215 | DSP | c.7134G>A (p.Ser2378=) c.8463G>A (p.Ser2821=) c.6666G>A (p.Ser2222=) | ClinVar COSMIC |
| 6 | g.7585725G>C | CA448717216 | DSP | c.7134G>C (p.Ser2378=) c.8463G>C (p.Ser2821=) c.6666G>C (p.Ser2222=) | |
| 6 | g.7585725G>T | CA448717217 | DSP | c.7134G>T (p.Ser2378=) c.8463G>T (p.Ser2821=) c.6666G>T (p.Ser2222=) | gnomAD v4 |
| 6 | g.7585725_7585738delinsGGCTCCGGGGTCCC | CA1608615430 | DSP | c.7134_7147delinsGGCTCCGGGGTCCC (p.Ser2378=) c.8463_8476delinsGGCTCCGGGGTCCC (p.Ser2821=) c.6666_6679delinsGGCTCCGGGGTCCC (p.Ser2222=) | |
| 6 | g.7585726G>A | CA362695203 | DSP | c.7135G>A (p.Ala2379Thr) c.8464G>A (p.Ala2822Thr) c.6667G>A (p.Ala2223Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585726G>C | CA362695204 | DSP | c.7135G>C (p.Ala2379Pro) c.8464G>C (p.Ala2822Pro) c.6667G>C (p.Ala2223Pro) | ClinVar |
| 6 | g.7585726G= | CA1608615433 | DSP | c.7135G= (p.Ala2379=) c.8464G= (p.Ala2822=) c.6667G= (p.Ala2223=) | |
| 6 | g.7585726G>T | CA362695205 | DSP | c.7135G>T (p.Ala2379Ser) c.8464G>T (p.Ala2822Ser) c.6667G>T (p.Ala2223Ser) | |
| 6 | g.7585733_7585745del | CA1608615432 | DSP | c.7142_7154del (p.Gly2381AlafsTer?) c.8471_8483del (p.Gly2824AlafsTer?) c.6674_6686del (p.Gly2225AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585727C>A | CA362695206 | DSP | c.7136C>A (p.Ala2379Asp) c.8465C>A (p.Ala2822Asp) c.6668C>A (p.Ala2223Asp) | |
| 6 | g.7585727C>G | CA362695207 | DSP | c.7136C>G (p.Ala2379Gly) c.8465C>G (p.Ala2822Gly) c.6668C>G (p.Ala2223Gly) | |
| 6 | g.7585727C>T | CA362695208 | DSP | c.7136C>T (p.Ala2379Val) c.8465C>T (p.Ala2822Val) c.6668C>T (p.Ala2223Val) | |
| 6 | g.7585728T>A | CA448717218 | DSP | c.7137T>A (p.Ala2379=) c.8466T>A (p.Ala2822=) c.6669T>A (p.Ala2223=) | |
| 6 | g.7585728T>C | CA133978030 | DSP | c.7137T>C (p.Ala2379=) c.8466T>C (p.Ala2822=) c.6669T>C (p.Ala2223=) | ClinVar dbSNP |
| 6 | g.7585728T>G | CA448717219 | DSP | c.7137T>G (p.Ala2379=) c.8466T>G (p.Ala2822=) c.6669T>G (p.Ala2223=) | |
| 6 | g.7585728T= | CA1608615439 | DSP | c.7137T= (p.Ala2379=) c.8466T= (p.Ala2822=) c.6669T= (p.Ala2223=) | |
| 6 | g.7585729C>A | CA362695209 | DSP | c.7138C>A (p.Pro2380Thr) c.8467C>A (p.Pro2823Thr) c.6670C>A (p.Pro2224Thr) | |
| 6 | g.7585729C= | CA1608615443 | DSP | c.7138C= (p.Pro2380=) c.8467C= (p.Pro2823=) c.6670C= (p.Pro2224=) | |
| 6 | g.7585729C>G | CA007575 | DSP | c.7138C>G (p.Pro2380Ala) c.8467C>G (p.Pro2823Ala) c.6670C>G (p.Pro2224Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585729C>T | CA362695210 | DSP | c.7138C>T (p.Pro2380Ser) c.8467C>T (p.Pro2823Ser) c.6670C>T (p.Pro2224Ser) | dbSNP |
| 6 | g.7585729_7585753delinsCCGGGGTCCCGCTCCGGCTCCCGCT | CA1608615447 | DSP | c.7138_7162delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2380=) c.8467_8491delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2823=) c.6670_6694delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2224=) | |
| 6 | g.7585730C>A | CA362695211 | DSP | c.7139C>A (p.Pro2380Gln) c.8468C>A (p.Pro2823Gln) c.6671C>A (p.Pro2224Gln) | COSMIC |
| 6 | g.7585730C= | CA1608615462 | DSP | c.7139C= (p.Pro2380=) c.8468C= (p.Pro2823=) c.6671C= (p.Pro2224=) | |
| 6 | g.7585730C>G | CA362695212 | DSP | c.7139C>G (p.Pro2380Arg) c.8468C>G (p.Pro2823Arg) c.6671C>G (p.Pro2224Arg) | |
| 6 | g.7585730C>T | CA362695213 | DSP | c.7139C>T (p.Pro2380Leu) c.8468C>T (p.Pro2823Leu) c.6671C>T (p.Pro2224Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585731_7585742dup | CA565358229 | DSP | c.7140_7151dup (p.Ser2384_Gly2385insGlySerArgSer) c.8469_8480dup (p.Ser2827_Gly2828insGlySerArgSer) c.6672_6683dup (p.Ser2228_Gly2229insGlySerArgSer) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585734_7585757del | CA565358228 | DSP | c.7143_7166del (p.Ser2382_Gly2389del) c.8472_8495del (p.Ser2825_Gly2832del) c.6675_6698del (p.Ser2226_Gly2233del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585731G>A | CA448717221 | DSP | c.7140G>A (p.Pro2380=) c.8469G>A (p.Pro2823=) c.6672G>A (p.Pro2224=) | ClinVar dbSNP |
| 6 | g.7585731G>C | CA448717222 | DSP | c.7140G>C (p.Pro2380=) c.8469G>C (p.Pro2823=) c.6672G>C (p.Pro2224=) | |
| 6 | g.7585731G= | CA1608615481 | DSP | c.7140G= (p.Pro2380=) c.8469G= (p.Pro2823=) c.6672G= (p.Pro2224=) | |
| 6 | g.7585731G>T | CA448717223 | DSP | c.7140G>T (p.Pro2380=) c.8469G>T (p.Pro2823=) c.6672G>T (p.Pro2224=) | gnomAD v4 |
| 6 | g.7585731_7585732delinsAA | CA645552064 | DSP | c.7140_7141delinsAA (p.Gly2381Arg) c.8469_8470delinsAA (p.Gly2824Arg) c.6672_6673delinsAA (p.Gly2225Arg) | COSMIC |
| 6 | g.7585731_7585743delinsGGGGTCCCGCTCC | CA1608615477 | DSP | c.7140_7152delinsGGGGTCCCGCTCC (p.Pro2380=) c.8469_8481delinsGGGGTCCCGCTCC (p.Pro2823=) c.6672_6684delinsGGGGTCCCGCTCC (p.Pro2224=) | |
| 6 | g.7585732G>A | CA362695215 | DSP | c.7141G>A (p.Gly2381Arg) c.8470G>A (p.Gly2824Arg) c.6673G>A (p.Gly2225Arg) | |
| 6 | g.7585732G>C | CA362695214 | DSP | c.7141G>C (p.Gly2381Arg) c.8470G>C (p.Gly2824Arg) c.6673G>C (p.Gly2225Arg) | |
| 6 | g.7585732G>T | CA362695216 | DSP | c.7141G>T (p.Gly2381Trp) c.8470G>T (p.Gly2824Trp) c.6673G>T (p.Gly2225Trp) | |
| 6 | g.7585732_7585738delinsGGGTCCC | CA1608615490 | DSP | c.7141_7147delinsGGGTCCC (p.Gly2381=) c.8470_8476delinsGGGTCCC (p.Gly2824=) c.6673_6679delinsGGGTCCC (p.Gly2225=) | |
| 6 | g.7585734_7585745del | CA007583 | DSP | c.7143_7154del (p.Ser2382_Gly2385del) c.8472_8483del (p.Ser2825_Gly2828del) c.6675_6686del (p.Ser2226_Gly2229del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585733G>A | CA362695217 | DSP | c.7142G>A (p.Gly2381Glu) c.8471G>A (p.Gly2824Glu) c.6674G>A (p.Gly2225Glu) | |
| 6 | g.7585733G>C | CA362695218 | DSP | c.7142G>C (p.Gly2381Ala) c.8471G>C (p.Gly2824Ala) c.6674G>C (p.Gly2225Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585733G= | CA1608615499 | DSP | c.7142G= (p.Gly2381=) c.8471G= (p.Gly2824=) c.6674G= (p.Gly2225=) | |
| 6 | g.7585733G>T | CA362695219 | DSP | c.7142G>T (p.Gly2381Val) c.8471G>T (p.Gly2824Val) c.6674G>T (p.Gly2225Val) | |
| 6 | g.7585733_7585735delinsGGT | CA1608615495 | DSP | c.7142_7144delinsGGT (p.Gly2381=) c.8471_8473delinsGGT (p.Gly2824=) c.6674_6676delinsGGT (p.Gly2225=) | |
| 6 | g.7585734_7585739del | CA1085707195 | DSP | c.7143_7148del (p.Ser2382_Arg2383del) c.8472_8477del (p.Ser2825_Arg2826del) c.6675_6680del (p.Ser2226_Arg2227del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585733_7585734insCTCCC | CA3628103 | DSP | c.7142_7143insCTCCC (p.Ser2384ProfsTer?) c.8471_8472insCTCCC (p.Ser2827ProfsTer?) c.6674_6675insCTCCC (p.Ser2228ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585734G>A | CA448717225 | DSP | c.7143G>A (p.Gly2381=) c.8472G>A (p.Gly2824=) c.6675G>A (p.Gly2225=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585734G>C | CA007601 | DSP | c.7143G>C (p.Gly2381=) c.8472G>C (p.Gly2824=) c.6675G>C (p.Gly2225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585734G= | CA180735 | DSP | c.7143G= (p.Gly2381=) c.8472G= (p.Gly2824=) c.6675G= (p.Gly2225=) | |
| 6 | g.7585734G>T | CA448717226 | DSP | c.7143G>T (p.Gly2381=) c.8472G>T (p.Gly2824=) c.6675G>T (p.Gly2225=) | dbSNP |
| 6 | g.7585734_7585735del | CA3628102 | DSP | c.7143_7144del (p.Ser2382ProfsTer26) c.8472_8473del (p.Ser2825ProfsTer26) c.6675_6676del (p.Ser2226ProfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585734_7585746delinsGTCCCGCTCCGGC | CA1608615508 | DSP | c.7143_7155delinsGTCCCGCTCCGGC (p.Gly2381=) c.8472_8484delinsGTCCCGCTCCGGC (p.Gly2824=) c.6675_6687delinsGTCCCGCTCCGGC (p.Gly2225=) | |
| 6 | g.7585734_7585735insGT | CA133978062 | DSP | c.7143_7144insGT (p.Ser2382ValfsTer?) c.8472_8473insGT (p.Ser2825ValfsTer?) c.6675_6676insGT (p.Ser2226ValfsTer?) | |
| 6 | g.7585734_7585735insCTCCGGC | CA052414 | DSP | c.7143_7144insCTCCGGC (p.Ser2382LeufsTer29) c.8472_8473insCTCCGGC (p.Ser2825LeufsTer29) c.6675_6676insCTCCGGC (p.Ser2226LeufsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585734_7585735insCTCCGGCTCCCGCTCGGGC | CA565358230 | DSP | c.7143_7144insCTCCGGCTCCCGCTCGGGC (p.Ser2382LeufsTer33) c.8472_8473insCTCCGGCTCCCGCTCGGGC (p.Ser2825LeufsTer33) c.6675_6676insCTCCGGCTCCCGCTCGGGC (p.Ser2226LeufsTer33) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585735T>A | CA362695222 | DSP | c.7144T>A (p.Ser2382Thr) c.8473T>A (p.Ser2825Thr) c.6676T>A (p.Ser2226Thr) | dbSNP gnomAD v4 |
| 6 | g.7585735T>C | CA362695221 | DSP | c.7144T>C (p.Ser2382Pro) c.8473T>C (p.Ser2825Pro) c.6676T>C (p.Ser2226Pro) | |
| 6 | g.7585735T>G | CA362695220 | DSP | c.7144T>G (p.Ser2382Ala) c.8473T>G (p.Ser2825Ala) c.6676T>G (p.Ser2226Ala) | |
| 6 | g.7585735T= | CA1608615523 | DSP | c.7144T= (p.Ser2382=) c.8473T= (p.Ser2825=) c.6676T= (p.Ser2226=) | |
| 6 | g.7585743_7585754del | CA007617 | DSP | c.7152_7163del (p.Gly2385_Ser2388del) c.8481_8492del (p.Gly2828_Ser2831del) c.6684_6695del (p.Gly2229_Ser2232del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585736C>A | CA362695223 | DSP | c.7145C>A (p.Ser2382Tyr) c.8474C>A (p.Ser2825Tyr) c.6677C>A (p.Ser2226Tyr) | |
| 6 | g.7585736C= | CA1608615531 | DSP | c.7145C= (p.Ser2382=) c.8474C= (p.Ser2825=) c.6677C= (p.Ser2226=) | |
| 6 | g.7585736C>G | CA362695224 | DSP | c.7145C>G (p.Ser2382Cys) c.8474C>G (p.Ser2825Cys) c.6677C>G (p.Ser2226Cys) | dbSNP gnomAD v4 |
| 6 | g.7585736C>T | CA362695225 | DSP | c.7145C>T (p.Ser2382Phe) c.8474C>T (p.Ser2825Phe) c.6677C>T (p.Ser2226Phe) | |
| 6 | g.7585736_7585758delinsCCCGCTCCGGCTCCCGCTCGGGA | CA1608615532 | DSP | c.7145_7167delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2382=) c.8474_8496delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2825=) c.6677_6699delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2226=) | |
| 6 | g.7585737C>A | CA448717232 | DSP | c.7146C>A (p.Ser2382=) c.8475C>A (p.Ser2825=) c.6678C>A (p.Ser2226=) | |
| 6 | g.7585737C>G | CA448717233 | DSP | c.7146C>G (p.Ser2382=) c.8475C>G (p.Ser2825=) c.6678C>G (p.Ser2226=) | |
| 6 | g.7585737C>T | CA448717234 | DSP | c.7146C>T (p.Ser2382=) c.8475C>T (p.Ser2825=) c.6678C>T (p.Ser2226=) | gnomAD v4 |
| 6 | g.7585740_7585744del | CA2578524533 | DSP | c.7149_7153del (p.Ser2384LeufsTer23) c.8478_8482del (p.Ser2827LeufsTer23) c.6681_6685del (p.Ser2228LeufsTer23) | |
| 6 | g.7585737_7585758del | CA052448 | DSP | c.7146_7167del (p.Arg2383LeufsTer?) c.8475_8496del (p.Arg2826LeufsTer?) c.6678_6699del (p.Arg2227LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585737_7585761delinsCCGCTCCGGCTCCCGCTCGGGATCT | CA1608615534 | DSP | c.7146_7170delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2382=) c.8475_8499delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2825=) c.6678_6702delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2226=) | |
| 6 | g.7585738C>A | CA362695226 | DSP | c.7147C>A (p.Arg2383Ser) c.8476C>A (p.Arg2826Ser) c.6679C>A (p.Arg2227Ser) | ClinVar dbSNP |
| 6 | g.7585738C= | CA1608615537 | DSP | c.7147C= (p.Arg2383=) c.8476C= (p.Arg2826=) c.6679C= (p.Arg2227=) | |
| 6 | g.7585738C>G | CA362695227 | DSP | c.7147C>G (p.Arg2383Gly) c.8476C>G (p.Arg2826Gly) c.6679C>G (p.Arg2227Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585738C>T | CA007610 | DSP | c.7147C>T (p.Arg2383Cys) c.8476C>T (p.Arg2826Cys) c.6679C>T (p.Arg2227Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585746_7585769del | CA133978081 | DSP | c.7155_7178del (p.Ser2386_Gly2393del) c.8484_8507del (p.Ser2829_Gly2836del) c.6687_6710del (p.Ser2230_Gly2237del) | ClinVar dbSNP |
| 6 | g.7585738_7585739insCGGGG | CA565358231 | DSP | c.7147_7148insCGGGG (p.Arg2383ProfsTer?) c.8476_8477insCGGGG (p.Arg2826ProfsTer?) c.6679_6680insCGGGG (p.Arg2227ProfsTer?) | gnomAD v2 |
| 6 | g.7585739G>A | CA052461 | DSP | c.7148G>A (p.Arg2383His) c.8477G>A (p.Arg2826His) c.6680G>A (p.Arg2227His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585739G>C | CA362695228 | DSP | c.7148G>C (p.Arg2383Pro) c.8477G>C (p.Arg2826Pro) c.6680G>C (p.Arg2227Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585739G= | CA1608615542 | DSP | c.7148G= (p.Arg2383=) c.8477G= (p.Arg2826=) c.6680G= (p.Arg2227=) | |
| 6 | g.7585739G>T | CA362695229 | DSP | c.7148G>T (p.Arg2383Leu) c.8477G>T (p.Arg2826Leu) c.6680G>T (p.Arg2227Leu) | |
| 6 | g.7585740C>A | CA448531233 | DSP | c.7149C>A (p.Arg2383=) c.8478C>A (p.Arg2826=) c.6681C>A (p.Arg2227=) | |
| 6 | g.7585740C= | CA1608615558 | DSP | c.7149C= (p.Arg2383=) c.8478C= (p.Arg2826=) c.6681C= (p.Arg2227=) | |
| 6 | g.7585740C>G | CA448531235 | DSP | c.7149C>G (p.Arg2383=) c.8478C>G (p.Arg2826=) c.6681C>G (p.Arg2227=) | gnomAD v4 |
| 6 | g.7585740C>T | CA448531234 | DSP | c.7149C>T (p.Arg2383=) c.8478C>T (p.Arg2826=) c.6681C>T (p.Arg2227=) | ClinVar |
| 6 | g.7585741T>A | CA362695232 | DSP | c.7150T>A (p.Ser2384Thr) c.8479T>A (p.Ser2827Thr) c.6682T>A (p.Ser2228Thr) | |
| 6 | g.7585741T>C | CA362695231 | DSP | c.7150T>C (p.Ser2384Pro) c.8479T>C (p.Ser2827Pro) c.6682T>C (p.Ser2228Pro) | |
| 6 | g.7585741T>G | CA362695230 | DSP | c.7150T>G (p.Ser2384Ala) c.8479T>G (p.Ser2827Ala) c.6682T>G (p.Ser2228Ala) | |
| 6 | g.7585741_7585742insGATTGATAGAGATTTGTATCGAT | CA565105930 | DSP | c.7150_7151insGATTGATAGAGATTTGTATCGAT (p.Ser2384Ter) c.8479_8480insGATTGATAGAGATTTGTATCGAT (p.Ser2827Ter) c.6682_6683insGATTGATAGAGATTTGTATCGAT (p.Ser2228Ter) | dbSNP gnomAD v2 |
| 6 | g.7585742C>A | CA362695233 | DSP | c.7151C>A (p.Ser2384Tyr) c.8480C>A (p.Ser2827Tyr) c.6683C>A (p.Ser2228Tyr) | |
| 6 | g.7585742C= | CA1608615566 | DSP | c.7151C= (p.Ser2384=) c.8480C= (p.Ser2827=) c.6683C= (p.Ser2228=) | |
| 6 | g.7585742C>G | CA052462 | DSP | c.7151C>G (p.Ser2384Cys) c.8480C>G (p.Ser2827Cys) c.6683C>G (p.Ser2228Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585742C>T | CA362695234 | DSP | c.7151C>T (p.Ser2384Phe) c.8480C>T (p.Ser2827Phe) c.6683C>T (p.Ser2228Phe) | ClinVar dbSNP |
| 6 | g.7585743C>A | CA448531236 | DSP | c.7152C>A (p.Ser2384=) c.8481C>A (p.Ser2827=) c.6684C>A (p.Ser2228=) | |
| 6 | g.7585743C= | CA1608615578 | DSP | c.7152C= (p.Ser2384=) c.8481C= (p.Ser2827=) c.6684C= (p.Ser2228=) | |
| 6 | g.7585743C>G | CA448531237 | DSP | c.7152C>G (p.Ser2384=) c.8481C>G (p.Ser2827=) c.6684C>G (p.Ser2228=) | ClinVar |
| 6 | g.7585743C>T | CA007634 | DSP | c.7152C>T (p.Ser2384=) c.8481C>T (p.Ser2827=) c.6684C>T (p.Ser2228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585743_7585755delinsCGGCTCCCGCTCG | CA1608615570 | DSP | c.7152_7164delinsCGGCTCCCGCTCG (p.Ser2384=) c.8481_8493delinsCGGCTCCCGCTCG (p.Ser2827=) c.6684_6696delinsCGGCTCCCGCTCG (p.Ser2228=) | |
| 6 | g.7585743_7585761delinsCGGCTCCCGCTCGGGATCT | CA1608615573 | DSP | c.7152_7170delinsCGGCTCCCGCTCGGGATCT (p.Ser2384=) c.8481_8499delinsCGGCTCCCGCTCGGGATCT (p.Ser2827=) c.6684_6702delinsCGGCTCCCGCTCGGGATCT (p.Ser2228=) | |
| 6 | g.7585744G>A | CA052478 | DSP | c.7153G>A (p.Gly2385Ser) c.8482G>A (p.Gly2828Ser) c.6685G>A (p.Gly2229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585744G>C | CA362695235 | DSP | c.7153G>C (p.Gly2385Arg) c.8482G>C (p.Gly2828Arg) c.6685G>C (p.Gly2229Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585744G= | CA1608615585 | DSP | c.7153G= (p.Gly2385=) c.8482G= (p.Gly2828=) c.6685G= (p.Gly2229=) | |
| 6 | g.7585744G>T | CA362695236 | DSP | c.7153G>T (p.Gly2385Cys) c.8482G>T (p.Gly2828Cys) c.6685G>T (p.Gly2229Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585746_7585757del | CA658796722 | DSP | c.7155_7166del (p.Ser2386_Gly2389del) c.8484_8495del (p.Ser2829_Gly2832del) c.6687_6698del (p.Ser2230_Gly2233del) | ClinVar dbSNP |
| 6 | g.7585744_7585761del | CA1085707252 | DSP | c.7153_7170del (p.Gly2385_Ser2390del) c.8482_8499del (p.Gly2828_Ser2833del) c.6685_6702del (p.Gly2229_Ser2234del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7585745G>A | CA362695237 | DSP | c.7154G>A (p.Gly2385Asp) c.8483G>A (p.Gly2828Asp) c.6686G>A (p.Gly2229Asp) | |
| 6 | g.7585745G>C | CA362695238 | DSP | c.7154G>C (p.Gly2385Ala) c.8483G>C (p.Gly2828Ala) c.6686G>C (p.Gly2229Ala) | |
| 6 | g.7585745G>T | CA362695239 | DSP | c.7154G>T (p.Gly2385Val) c.8483G>T (p.Gly2828Val) c.6686G>T (p.Gly2229Val) | |
| 6 | g.7585746C>A | CA448531238 | DSP | c.7155C>A (p.Gly2385=) c.8484C>A (p.Gly2828=) c.6687C>A (p.Gly2229=) | |
| 6 | g.7585746C= | CA1608615592 | DSP | c.7155C= (p.Gly2385=) c.8484C= (p.Gly2828=) c.6687C= (p.Gly2229=) | |
| 6 | g.7585746C>G | CA448531239 | DSP | c.7155C>G (p.Gly2385=) c.8484C>G (p.Gly2828=) c.6687C>G (p.Gly2229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585746C>T | CA448531240 | DSP | c.7155C>T (p.Gly2385=) c.8484C>T (p.Gly2828=) c.6687C>T (p.Gly2229=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585746_7585758delinsCTCCCGCTCGGGA | CA1608615590 | DSP | c.7155_7167delinsCTCCCGCTCGGGA (p.Gly2385=) c.8484_8496delinsCTCCCGCTCGGGA (p.Gly2828=) c.6687_6699delinsCTCCCGCTCGGGA (p.Gly2229=) | |
| 6 | g.7585747T>A | CA362695240 | DSP | c.7156T>A (p.Ser2386Thr) c.8485T>A (p.Ser2829Thr) c.6688T>A (p.Ser2230Thr) | |
| 6 | g.7585747T>C | CA362695241 | DSP | c.7156T>C (p.Ser2386Pro) c.8485T>C (p.Ser2829Pro) c.6688T>C (p.Ser2230Pro) | |
| 6 | g.7585747T>G | CA362695242 | DSP | c.7156T>G (p.Ser2386Ala) c.8485T>G (p.Ser2829Ala) c.6688T>G (p.Ser2230Ala) | |
| 6 | g.7585749_7585760del | CA007642 | DSP | c.7158_7169del (p.Arg2387_Ser2390del) c.8487_8498del (p.Arg2830_Ser2833del) c.6690_6701del (p.Arg2231_Ser2234del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585748C>A | CA362695245 | DSP | c.7157C>A (p.Ser2386Tyr) c.8486C>A (p.Ser2829Tyr) c.6689C>A (p.Ser2230Tyr) | |
| 6 | g.7585748C>G | CA362695243 | DSP | c.7157C>G (p.Ser2386Cys) c.8486C>G (p.Ser2829Cys) c.6689C>G (p.Ser2230Cys) | ClinVar dbSNP |
| 6 | g.7585748C>T | CA362695244 | DSP | c.7157C>T (p.Ser2386Phe) c.8486C>T (p.Ser2829Phe) c.6689C>T (p.Ser2230Phe) | |
| 6 | g.7585749C>A | CA448531242 | DSP | c.7158C>A (p.Ser2386=) c.8487C>A (p.Ser2829=) c.6690C>A (p.Ser2230=) | |
| 6 | g.7585749C= | CA1608615607 | DSP | c.7158C= (p.Ser2386=) c.8487C= (p.Ser2829=) c.6690C= (p.Ser2230=) | |
| 6 | g.7585749C>G | CA448531241 | DSP | c.7158C>G (p.Ser2386=) c.8487C>G (p.Ser2829=) c.6690C>G (p.Ser2230=) | |
| 6 | g.7585749C>T | CA448531243 | DSP | c.7158C>T (p.Ser2386=) c.8487C>T (p.Ser2829=) c.6690C>T (p.Ser2230=) | dbSNP |
| 6 | g.7585749_7585761delinsCCGCTCGGGATCT | CA1608615602 | DSP | c.7158_7170delinsCCGCTCGGGATCT (p.Ser2386=) c.8487_8499delinsCCGCTCGGGATCT (p.Ser2829=) c.6690_6702delinsCCGCTCGGGATCT (p.Ser2230=) | |
| 6 | g.7585749_7585773delinsCCGCTCGGGATCTCGCTCCGGATCT | CA1608615613 | DSP | c.7158_7182delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2386=) c.8487_8511delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2829=) c.6690_6714delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2230=) | |
| 6 | g.7585750C>A | CA362695246 | DSP | c.7159C>A (p.Arg2387Ser) c.8488C>A (p.Arg2830Ser) c.6691C>A (p.Arg2231Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585750C= | CA1608615639 | DSP | c.7159C= (p.Arg2387=) c.8488C= (p.Arg2830=) c.6691C= (p.Arg2231=) | |
| 6 | g.7585750C>G | CA362695247 | DSP | c.7159C>G (p.Arg2387Gly) c.8488C>G (p.Arg2830Gly) c.6691C>G (p.Arg2231Gly) | |
| 6 | g.7585750C>T | CA362695248 | DSP | c.7159C>T (p.Arg2387Cys) c.8488C>T (p.Arg2830Cys) c.6691C>T (p.Arg2231Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585755_7585766dup | CA052498 | DSP | c.7164_7175dup (p.Ser2392_Gly2393insGlySerArgSer) c.8493_8504dup (p.Ser2835_Gly2836insGlySerArgSer) c.6696_6707dup (p.Ser2236_Gly2237insGlySerArgSer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585755_7585766del | CA565105938 | DSP | c.7164_7175del (p.Gly2389_Ser2392del) c.8493_8504del (p.Gly2832_Ser2835del) c.6696_6707del (p.Gly2233_Ser2236del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585755_7585778del | CA658683438 | DSP | c.7164_7187del (p.Gly2389_Ser2396del) c.8493_8516del (p.Gly2832_Ser2839del) c.6696_6719del (p.Gly2233_Ser2240del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585751G>A | CA362695249 | DSP | c.7160G>A (p.Arg2387His) c.8489G>A (p.Arg2830His) c.6692G>A (p.Arg2231His) | dbSNP |
| 6 | g.7585751G>C | CA362695250 | DSP | c.7160G>C (p.Arg2387Pro) c.8489G>C (p.Arg2830Pro) c.6692G>C (p.Arg2231Pro) | |
| 6 | g.7585751G= | CA1608615649 | DSP | c.7160G= (p.Arg2387=) c.8489G= (p.Arg2830=) c.6692G= (p.Arg2231=) | |
| 6 | g.7585751G>T | CA362695251 | DSP | c.7160G>T (p.Arg2387Leu) c.8489G>T (p.Arg2830Leu) c.6692G>T (p.Arg2231Leu) | |
| 6 | g.7585752C>A | CA448531244 | DSP | c.7161C>A (p.Arg2387=) c.8490C>A (p.Arg2830=) c.6693C>A (p.Arg2231=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585752C= | CA1608615658 | DSP | c.7161C= (p.Arg2387=) c.8490C= (p.Arg2830=) c.6693C= (p.Arg2231=) | |
| 6 | g.7585752C>G | CA448531245 | DSP | c.7161C>G (p.Arg2387=) c.8490C>G (p.Arg2830=) c.6693C>G (p.Arg2231=) | |
| 6 | g.7585752C>T | CA448531246 | DSP | c.7161C>T (p.Arg2387=) c.8490C>T (p.Arg2830=) c.6693C>T (p.Arg2231=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585753T>A | CA362695252 | DSP | c.7162T>A (p.Ser2388Thr) c.8491T>A (p.Ser2831Thr) c.6694T>A (p.Ser2232Thr) | |
| 6 | g.7585753T>C | CA362695253 | DSP | c.7162T>C (p.Ser2388Pro) c.8491T>C (p.Ser2831Pro) c.6694T>C (p.Ser2232Pro) | gnomAD v4 |
| 6 | g.7585753T>G | CA362695254 | DSP | c.7162T>G (p.Ser2388Ala) c.8491T>G (p.Ser2831Ala) c.6694T>G (p.Ser2232Ala) | |
| 6 | g.7585754C>A | CA362695256 | DSP | c.7163C>A (p.Ser2388Ter) c.8492C>A (p.Ser2831Ter) c.6695C>A (p.Ser2232Ter) | gnomAD v4 |
| 6 | g.7585754C= | CA1608615662 | DSP | c.7163C= (p.Ser2388=) c.8492C= (p.Ser2831=) c.6695C= (p.Ser2232=) | |
| 6 | g.7585754C>G | CA362695255 | DSP | c.7163C>G (p.Ser2388Trp) c.8492C>G (p.Ser2831Trp) c.6695C>G (p.Ser2232Trp) | dbSNP |
| 6 | g.7585754C>T | CA052507 | DSP | c.7163C>T (p.Ser2388Leu) c.8492C>T (p.Ser2831Leu) c.6695C>T (p.Ser2232Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7585755G>A | CA3628105 | DSP | c.7164G>A (p.Ser2388=) c.8493G>A (p.Ser2831=) c.6696G>A (p.Ser2232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585755G>C | CA007660 | DSP | c.7164G>C (p.Ser2388=) c.8493G>C (p.Ser2831=) c.6696G>C (p.Ser2232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585755G= | CA1608615671 | DSP | c.7164G= (p.Ser2388=) c.8493G= (p.Ser2831=) c.6696G= (p.Ser2232=) | |
| 6 | g.7585755G>T | CA448531247 | DSP | c.7164G>T (p.Ser2388=) c.8493G>T (p.Ser2831=) c.6696G>T (p.Ser2232=) | gnomAD v4 |
| 6 | g.7585755_7585767delinsGGGATCTCGCTCC | CA1608615669 | DSP | c.7164_7176delinsGGGATCTCGCTCC (p.Ser2388=) c.8493_8505delinsGGGATCTCGCTCC (p.Ser2831=) c.6696_6708delinsGGGATCTCGCTCC (p.Ser2232=) | |
| 6 | g.7585756G>A | CA052563 | DSP | c.7165G>A (p.Gly2389Arg) c.8494G>A (p.Gly2832Arg) c.6697G>A (p.Gly2233Arg) | dbSNP ExAC gnomAD v2 |
| 6 | g.7585756G>C | CA362695257 | DSP | c.7165G>C (p.Gly2389Arg) c.8494G>C (p.Gly2832Arg) c.6697G>C (p.Gly2233Arg) | |
| 6 | g.7585756G= | CA1608615706 | DSP | c.7165G= (p.Gly2389=) c.8494G= (p.Gly2832=) c.6697G= (p.Gly2233=) | |
| 6 | g.7585756G>T | CA362695258 | DSP | c.7165G>T (p.Gly2389Ter) c.8494G>T (p.Gly2832Ter) c.6697G>T (p.Gly2233Ter) | |
| 6 | g.7585760_7585761insCCGCTCCGGATC | CA3628106 | DSP | c.7169_7170insCCGCTCCGGATC (p.Ser2390_Arg2391insArgSerGlySer) c.8498_8499insCCGCTCCGGATC (p.Ser2833_Arg2834insArgSerGlySer) c.6701_6702insCCGCTCCGGATC (p.Ser2234_Arg2235insArgSerGlySer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585770_7585781dup | CA3628104 | DSP | c.7179_7190dup (p.Gly2397_Ser2398insSerArgSerGly) c.8508_8519dup (p.Gly2840_Ser2841insSerArgSerGly) c.6711_6722dup (p.Gly2241_Ser2242insSerArgSerGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585770_7585781del | CA007688 | DSP | c.7179_7190del (p.Ser2394_Gly2397del) c.8508_8519del (p.Ser2837_Gly2840del) c.6711_6722del (p.Ser2238_Gly2241del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585757G>A | CA362695259 | DSP | c.7166G>A (p.Gly2389Glu) c.8495G>A (p.Gly2832Glu) c.6698G>A (p.Gly2233Glu) | |
| 6 | g.7585757G>C | CA362695260 | DSP | c.7166G>C (p.Gly2389Ala) c.8495G>C (p.Gly2832Ala) c.6698G>C (p.Gly2233Ala) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585757G= | CA1608615711 | DSP | c.7166G= (p.Gly2389=) c.8495G= (p.Gly2832=) c.6698G= (p.Gly2233=) | |
| 6 | g.7585757G>T | CA007670 | DSP | c.7166G>T (p.Gly2389Val) c.8495G>T (p.Gly2832Val) c.6698G>T (p.Gly2233Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585758A= | CA1608615722 | DSP | c.7167A= (p.Gly2389=) c.8496A= (p.Gly2832=) c.6699A= (p.Gly2233=) | |
| 6 | g.7585758A>C | CA052583 | DSP | c.7167A>C (p.Gly2389=) c.8496A>C (p.Gly2832=) c.6699A>C (p.Gly2233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585758A>G | CA448531248 | DSP | c.7167A>G (p.Gly2389=) c.8496A>G (p.Gly2832=) c.6699A>G (p.Gly2233=) | |
| 6 | g.7585758A>T | CA448531249 | DSP | c.7167A>T (p.Gly2389=) c.8496A>T (p.Gly2832=) c.6699A>T (p.Gly2233=) | COSMIC |
| 6 | g.7585758_7585762dup | CA565105959 | DSP | c.7167_7171dup (p.Arg2391HisfsTer?) c.8496_8500dup (p.Arg2834HisfsTer?) c.6699_6703dup (p.Arg2235HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585759T>A | CA362695263 | DSP | c.7168T>A (p.Ser2390Thr) c.8497T>A (p.Ser2833Thr) c.6700T>A (p.Ser2234Thr) | |
| 6 | g.7585759T>C | CA362695262 | DSP | c.7168T>C (p.Ser2390Pro) c.8497T>C (p.Ser2833Pro) c.6700T>C (p.Ser2234Pro) | gnomAD v4 |
| 6 | g.7585759T>G | CA362695261 | DSP | c.7168T>G (p.Ser2390Ala) c.8497T>G (p.Ser2833Ala) c.6700T>G (p.Ser2234Ala) | |
| 6 | g.7585760C>A | CA362695264 | DSP | c.7169C>A (p.Ser2390Tyr) c.8498C>A (p.Ser2833Tyr) c.6701C>A (p.Ser2234Tyr) | gnomAD v4 |
| 6 | g.7585760C= | CA1608615733 | DSP | c.7169C= (p.Ser2390=) c.8498C= (p.Ser2833=) c.6701C= (p.Ser2234=) | |
| 6 | g.7585760C>G | CA052592 | DSP | c.7169C>G (p.Ser2390Cys) c.8498C>G (p.Ser2833Cys) c.6701C>G (p.Ser2234Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585760C>T | CA362695265 | DSP | c.7169C>T (p.Ser2390Phe) c.8498C>T (p.Ser2833Phe) c.6701C>T (p.Ser2234Phe) | ClinVar |
| 6 | g.7585761T>A | CA448531250 | DSP | c.7170T>A (p.Ser2390=) c.8499T>A (p.Ser2833=) c.6702T>A (p.Ser2234=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585761T>C | CA448531252 | DSP | c.7170T>C (p.Ser2390=) c.8499T>C (p.Ser2833=) c.6702T>C (p.Ser2234=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585761T>G | CA448531251 | DSP | c.7170T>G (p.Ser2390=) c.8499T>G (p.Ser2833=) c.6702T>G (p.Ser2234=) | |
| 6 | g.7585761T= | CA1608615739 | DSP | c.7170T= (p.Ser2390=) c.8499T= (p.Ser2833=) c.6702T= (p.Ser2234=) | |
| 6 | g.7585762C>A | CA362695266 | DSP | c.7171C>A (p.Arg2391Ser) c.8500C>A (p.Arg2834Ser) c.6703C>A (p.Arg2235Ser) | |
| 6 | g.7585762C= | CA1608615748 | DSP | c.7171C= (p.Arg2391=) c.8500C= (p.Arg2834=) c.6703C= (p.Arg2235=) | |
| 6 | g.7585762C>G | CA362695267 | DSP | c.7171C>G (p.Arg2391Gly) c.8500C>G (p.Arg2834Gly) c.6703C>G (p.Arg2235Gly) | |
| 6 | g.7585762C>T | CA052606 | DSP | c.7171C>T (p.Arg2391Cys) c.8500C>T (p.Arg2834Cys) c.6703C>T (p.Arg2235Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585763G>A | CA007679 | DSP | c.7172G>A (p.Arg2391His) c.8501G>A (p.Arg2834His) c.6704G>A (p.Arg2235His) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585763G>C | CA362695268 | DSP | c.7172G>C (p.Arg2391Pro) c.8501G>C (p.Arg2834Pro) c.6704G>C (p.Arg2235Pro) | |
| 6 | g.7585763G= | CA1608615758 | DSP | c.7172G= (p.Arg2391=) c.8501G= (p.Arg2834=) c.6704G= (p.Arg2235=) | |
| 6 | g.7585763G>T | CA362695269 | DSP | c.7172G>T (p.Arg2391Leu) c.8501G>T (p.Arg2834Leu) c.6704G>T (p.Arg2235Leu) | dbSNP gnomAD v4 |
| 6 | g.7585764C>A | CA448531255 | DSP | c.7173C>A (p.Arg2391=) c.8502C>A (p.Arg2834=) c.6705C>A (p.Arg2235=) | |
| 6 | g.7585764C>G | CA448531253 | DSP | c.7173C>G (p.Arg2391=) c.8502C>G (p.Arg2834=) c.6705C>G (p.Arg2235=) | |
| 6 | g.7585764C>T | CA448531254 | DSP | c.7173C>T (p.Arg2391=) c.8502C>T (p.Arg2834=) c.6705C>T (p.Arg2235=) | |
| 6 | g.7585765T>A | CA362695270 | DSP | c.7174T>A (p.Ser2392Thr) c.8503T>A (p.Ser2835Thr) c.6706T>A (p.Ser2236Thr) | |
| 6 | g.7585765T>C | CA362695271 | DSP | c.7174T>C (p.Ser2392Pro) c.8503T>C (p.Ser2835Pro) c.6706T>C (p.Ser2236Pro) | |
| 6 | g.7585765T>G | CA362695272 | DSP | c.7174T>G (p.Ser2392Ala) c.8503T>G (p.Ser2835Ala) c.6706T>G (p.Ser2236Ala) | |
| 6 | g.7585766C>A | CA362695275 | DSP | c.7175C>A (p.Ser2392Tyr) c.8504C>A (p.Ser2835Tyr) c.6707C>A (p.Ser2236Tyr) | |
| 6 | g.7585766C>G | CA362695274 | DSP | c.7175C>G (p.Ser2392Cys) c.8504C>G (p.Ser2835Cys) c.6707C>G (p.Ser2236Cys) | COSMIC |
| 6 | g.7585766C>T | CA362695273 | DSP | c.7175C>T (p.Ser2392Phe) c.8504C>T (p.Ser2835Phe) c.6707C>T (p.Ser2236Phe) |