12 | g.5044905_5044910dup | CA2617209904 | KCNA5 | c.758_763dup (p.Ile254_Val255insAlaIle)
| gnomAD v4 |
12 | g.5044902T>A | CA383465090 | KCNA5 | c.755T>A (p.Ile252Asn)
| |
12 | g.5044902T>C | CA383465091 | KCNA5 | c.755T>C (p.Ile252Thr)
| |
12 | g.5044902T>G | CA383465092 | KCNA5 | c.755T>G (p.Ile252Ser)
| gnomAD v4 |
12 | g.5044903C>A | CA478095363 | KCNA5 | c.756C>A (p.Ile252=)
| dbSNP |
12 | g.5044903C= | CA2013430947 | KCNA5 | c.756C= (p.Ile252=)
| |
12 | g.5044903C>G | CA383465093 | KCNA5 | c.756C>G (p.Ile252Met)
| |
12 | g.5044903C>T | CA6399709 | KCNA5 | c.756C>T (p.Ile252=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044904G>A | CA383465094 | KCNA5 | c.757G>A (p.Ala253Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044904G>C | CA383465095 | KCNA5 | c.757G>C (p.Ala253Pro)
| |
12 | g.5044904G= | CA2013430948 | KCNA5 | c.757G= (p.Ala253=)
| |
12 | g.5044904G>T | CA383465096 | KCNA5 | c.757G>T (p.Ala253Ser)
| |
12 | g.5044905C>A | CA383465099 | KCNA5 | c.758C>A (p.Ala253Asp)
| |
12 | g.5044905C>G | CA383465098 | KCNA5 | c.758C>G (p.Ala253Gly)
| COSMIC |
12 | g.5044905C>T | CA383465097 | KCNA5 | c.758C>T (p.Ala253Val)
| COSMIC |
12 | g.5044906C>A | CA478095364 | KCNA5 | c.759C>A (p.Ala253=)
| |
12 | g.5044906C= | CA2013430949 | KCNA5 | c.759C= (p.Ala253=)
| |
12 | g.5044906C>G | CA478095365 | KCNA5 | c.759C>G (p.Ala253=)
| |
12 | g.5044906C>T | CA478095366 | KCNA5 | c.759C>T (p.Ala253=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044907A= | CA2013430950 | KCNA5 | c.760A= (p.Ile254=)
| |
12 | g.5044907A>C | CA383465100 | KCNA5 | c.760A>C (p.Ile254Leu)
| |
12 | g.5044907A>G | CA383465101 | KCNA5 | c.760A>G (p.Ile254Val)
| dbSNP gnomAD v4 |
12 | g.5044907A>T | CA383465102 | KCNA5 | c.760A>T (p.Ile254Phe)
| |
12 | g.5044908T>A | CA383465103 | KCNA5 | c.761T>A (p.Ile254Asn)
| |
12 | g.5044908T>C | CA383465104 | KCNA5 | c.761T>C (p.Ile254Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044908T>G | CA383465105 | KCNA5 | c.761T>G (p.Ile254Ser)
| |
12 | g.5044908T= | CA2013430951 | KCNA5 | c.761T= (p.Ile254=)
| |
12 | g.5044909C>A | CA478095368 | KCNA5 | c.762C>A (p.Ile254=)
| |
12 | g.5044909C= | CA2013430952 | KCNA5 | c.762C= (p.Ile254=)
| |
12 | g.5044909C>G | CA383465106 | KCNA5 | c.762C>G (p.Ile254Met)
| dbSNP gnomAD v4 |
12 | g.5044909C>T | CA478095367 | KCNA5 | c.762C>T (p.Ile254=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044910G>A | CA6399710 | KCNA5 | c.763G>A (p.Val255Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044910G>C | CA383465107 | KCNA5 | c.763G>C (p.Val255Leu)
| |
12 | g.5044910G= | CA2013430953 | KCNA5 | c.763G= (p.Val255=)
| |
12 | g.5044910G>T | CA383465108 | KCNA5 | c.763G>T (p.Val255Phe)
| gnomAD v4 |
12 | g.5044911T>A | CA383465109 | KCNA5 | c.764T>A (p.Val255Asp)
| gnomAD v4 |
12 | g.5044911T>C | CA383465110 | KCNA5 | c.764T>C (p.Val255Ala)
| |
12 | g.5044911T>G | CA383465111 | KCNA5 | c.764T>G (p.Val255Gly)
| |
12 | g.5044912C>A | CA478095369 | KCNA5 | c.765C>A (p.Val255=)
| |
12 | g.5044912C>G | CA478095370 | KCNA5 | c.765C>G (p.Val255=)
| |
12 | g.5044912C>T | CA478095371 | KCNA5 | c.765C>T (p.Val255=)
| |
12 | g.5044913T>A | CA383465113 | KCNA5 | c.766T>A (p.Ser256Thr)
| |
12 | g.5044913T>C | CA383465114 | KCNA5 | c.766T>C (p.Ser256Pro)
| |
12 | g.5044913T>G | CA383465112 | KCNA5 | c.766T>G (p.Ser256Ala)
| |
12 | g.5044914C>A | CA383465115 | KCNA5 | c.767C>A (p.Ser256Ter)
| |
12 | g.5044914C= | CA2013430954 | KCNA5 | c.767C= (p.Ser256=)
| |
12 | g.5044914C>G | CA383465116 | KCNA5 | c.767C>G (p.Ser256Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044914C>T | CA383465117 | KCNA5 | c.767C>T (p.Ser256Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044915G>A | CA231867795 | KCNA5 | c.768G>A (p.Ser256=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044915G>C | CA478095373 | KCNA5 | c.768G>C (p.Ser256=)
| dbSNP gnomAD v2 |
12 | g.5044915G= | CA2013430955 | KCNA5 | c.768G= (p.Ser256=)
| |
12 | g.5044915G>T | CA478095372 | KCNA5 | c.768G>T (p.Ser256=)
| gnomAD v4 |
12 | g.5044916G>A | CA383465118 | KCNA5 | c.769G>A (p.Val257Ile)
| |
12 | g.5044916G>C | CA383465119 | KCNA5 | c.769G>C (p.Val257Leu)
| |
12 | g.5044916G>T | CA383465120 | KCNA5 | c.769G>T (p.Val257Phe)
| |
12 | g.5044917T>A | CA383465121 | KCNA5 | c.770T>A (p.Val257Asp)
| dbSNP |
12 | g.5044917T>C | CA383465122 | KCNA5 | c.770T>C (p.Val257Ala)
| ClinVar dbSNP |
12 | g.5044917T>G | CA383465123 | KCNA5 | c.770T>G (p.Val257Gly)
| |
12 | g.5044917T= | CA2013430956 | KCNA5 | c.770T= (p.Val257=)
| |
12 | g.5044918C>A | CA478095374 | KCNA5 | c.771C>A (p.Val257=)
| |
12 | g.5044918C>G | CA478095375 | KCNA5 | c.771C>G (p.Val257=)
| |
12 | g.5044918C>T | CA478095376 | KCNA5 | c.771C>T (p.Val257=)
| |
12 | g.5044919T>A | CA383465124 | KCNA5 | c.772T>A (p.Leu258Met)
| |
12 | g.5044919T>C | CA478095377 | KCNA5 | c.772T>C (p.Leu258=)
| gnomAD v4 |
12 | g.5044919T>G | CA383465125 | KCNA5 | c.772T>G (p.Leu258Val)
| |
12 | g.5044920T>A | CA383465126 | KCNA5 | c.773T>A (p.Leu258Ter)
| |
12 | g.5044920T>C | CA383465127 | KCNA5 | c.773T>C (p.Leu258Ser)
| dbSNP |
12 | g.5044920T>G | CA383465128 | KCNA5 | c.773T>G (p.Leu258Trp)
| |
12 | g.5044920T= | CA2013430957 | KCNA5 | c.773T= (p.Leu258=)
| |
12 | g.5044921G>A | CA478095381 | KCNA5 | c.774G>A (p.Leu258=)
| |
12 | g.5044921G>C | CA383465129 | KCNA5 | c.774G>C (p.Leu258Phe)
| |
12 | g.5044921G= | CA2013430958 | KCNA5 | c.774G= (p.Leu258=)
| |
12 | g.5044921G>T | CA231867807 | KCNA5 | c.774G>T (p.Leu258Phe)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044922G>A | CA6399711 | KCNA5 | c.775G>A (p.Val259Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044922G>C | CA383465130 | KCNA5 | c.775G>C (p.Val259Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044922G= | CA2013430959 | KCNA5 | c.775G= (p.Val259=)
| |
12 | g.5044922G>T | CA231867812 | KCNA5 | c.775G>T (p.Val259Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044923T>A | CA383465131 | KCNA5 | c.776T>A (p.Val259Asp)
| |
12 | g.5044923T>C | CA383465132 | KCNA5 | c.776T>C (p.Val259Ala)
| gnomAD v4 |
12 | g.5044923T>G | CA383465133 | KCNA5 | c.776T>G (p.Val259Gly)
| |
12 | g.5044924T>A | CA478095382 | KCNA5 | c.777T>A (p.Val259=)
| |
12 | g.5044924T>C | CA478095383 | KCNA5 | c.777T>C (p.Val259=)
| gnomAD v4 |
12 | g.5044924T>G | CA478095384 | KCNA5 | c.777T>G (p.Val259=)
| |
12 | g.5044925A= | CA2013430960 | KCNA5 | c.778A= (p.Ile260=)
| |
12 | g.5044925A>C | CA383465135 | KCNA5 | c.778A>C (p.Ile260Leu)
| |
12 | g.5044925A>G | CA383465134 | KCNA5 | c.778A>G (p.Ile260Val)
| |
12 | g.5044925A>T | CA6399712 | KCNA5 | c.778A>T (p.Ile260Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044926T>A | CA383465136 | KCNA5 | c.779T>A (p.Ile260Asn)
| |
12 | g.5044926T>C | CA383465137 | KCNA5 | c.779T>C (p.Ile260Thr)
| |
12 | g.5044926T>G | CA383465138 | KCNA5 | c.779T>G (p.Ile260Ser)
| |
12 | g.5044927C>A | CA478095388 | KCNA5 | c.780C>A (p.Ile260=)
| |
12 | g.5044927C= | CA2013430961 | KCNA5 | c.780C= (p.Ile260=)
| |
12 | g.5044927C>G | CA383465139 | KCNA5 | c.780C>G (p.Ile260Met)
| |
12 | g.5044927C>T | CA6399713 | KCNA5 | c.780C>T (p.Ile260=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044928C>A | CA383465140 | KCNA5 | c.781C>A (p.Leu261Ile)
| |
12 | g.5044928C>G | CA383465142 | KCNA5 | c.781C>G (p.Leu261Val)
| |
12 | g.5044928C>T | CA383465141 | KCNA5 | c.781C>T (p.Leu261Phe)
| |
12 | g.5044929T>A | CA383465143 | KCNA5 | c.782T>A (p.Leu261His)
| |
12 | g.5044929T>C | CA383465144 | KCNA5 | c.782T>C (p.Leu261Pro)
| |
12 | g.5044929T>G | CA383465145 | KCNA5 | c.782T>G (p.Leu261Arg)
| |
12 | g.5044930C>A | CA478095391 | KCNA5 | c.783C>A (p.Leu261=)
| |
12 | g.5044930C>G | CA478095392 | KCNA5 | c.783C>G (p.Leu261=)
| |
12 | g.5044930C>T | CA478095394 | KCNA5 | c.783C>T (p.Leu261=)
| |
12 | g.5044931A>C | CA383465147 | KCNA5 | c.784A>C (p.Ile262Leu)
| |
12 | g.5044931A>G | CA383465148 | KCNA5 | c.784A>G (p.Ile262Val)
| |
12 | g.5044931A>T | CA383465149 | KCNA5 | c.784A>T (p.Ile262Phe)
| |
12 | g.5044932T>A | CA383465152 | KCNA5 | c.785T>A (p.Ile262Asn)
| |
12 | g.5044932T>C | CA383465150 | KCNA5 | c.785T>C (p.Ile262Thr)
| |
12 | g.5044932T>G | CA383465151 | KCNA5 | c.785T>G (p.Ile262Ser)
| |
12 | g.5044933C>A | CA478095396 | KCNA5 | c.786C>A (p.Ile262=)
| gnomAD v4 |
12 | g.5044933C= | CA2013430962 | KCNA5 | c.786C= (p.Ile262=)
| |
12 | g.5044933C>G | CA383465153 | KCNA5 | c.786C>G (p.Ile262Met)
| |
12 | g.5044933C>T | CA6399714 | KCNA5 | c.786C>T (p.Ile262=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044934T>A | CA383465154 | KCNA5 | c.787T>A (p.Ser263Thr)
| |
12 | g.5044934T>C | CA383465155 | KCNA5 | c.787T>C (p.Ser263Pro)
| |
12 | g.5044934T>G | CA383465156 | KCNA5 | c.787T>G (p.Ser263Ala)
| COSMIC |
12 | g.5044935C>A | CA383465157 | KCNA5 | c.788C>A (p.Ser263Tyr)
| |
12 | g.5044935C>G | CA383465159 | KCNA5 | c.788C>G (p.Ser263Cys)
| |
12 | g.5044935C>T | CA383465158 | KCNA5 | c.788C>T (p.Ser263Phe)
| |
12 | g.5044936C>A | CA478095400 | KCNA5 | c.789C>A (p.Ser263=)
| |
12 | g.5044936C>G | CA478095399 | KCNA5 | c.789C>G (p.Ser263=)
| |
12 | g.5044936C>T | CA478095398 | KCNA5 | c.789C>T (p.Ser263=)
| gnomAD v4 |
12 | g.5044937A>C | CA383465160 | KCNA5 | c.790A>C (p.Ile264Leu)
| |
12 | g.5044937A>G | CA383465161 | KCNA5 | c.790A>G (p.Ile264Val)
| |
12 | g.5044937A>T | CA383465162 | KCNA5 | c.790A>T (p.Ile264Phe)
| |
12 | g.5044938T>A | CA383465163 | KCNA5 | c.791T>A (p.Ile264Asn)
| |
12 | g.5044938T>C | CA383465164 | KCNA5 | c.791T>C (p.Ile264Thr)
| |
12 | g.5044938T>G | CA383465165 | KCNA5 | c.791T>G (p.Ile264Ser)
| |
12 | g.5044939C>A | CA478095402 | KCNA5 | c.792C>A (p.Ile264=)
| |
12 | g.5044939C= | CA2013430963 | KCNA5 | c.792C= (p.Ile264=)
| |
12 | g.5044939C>G | CA383465166 | KCNA5 | c.792C>G (p.Ile264Met)
| |
12 | g.5044939C>T | CA6399715 | KCNA5 | c.792C>T (p.Ile264=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044940A>C | CA383465167 | KCNA5 | c.793A>C (p.Ile265Leu)
| |
12 | g.5044940A>G | CA383465168 | KCNA5 | c.793A>G (p.Ile265Val)
| |
12 | g.5044940A>T | CA383465169 | KCNA5 | c.793A>T (p.Ile265Phe)
| |
12 | g.5044941T>A | CA383465171 | KCNA5 | c.794T>A (p.Ile265Asn)
| |
12 | g.5044941T>C | CA383465172 | KCNA5 | c.794T>C (p.Ile265Thr)
| |
12 | g.5044941T>G | CA383465170 | KCNA5 | c.794T>G (p.Ile265Ser)
| |
12 | g.5044942C>A | CA478095405 | KCNA5 | c.795C>A (p.Ile265=)
| |
12 | g.5044942C= | CA2013430964 | KCNA5 | c.795C= (p.Ile265=)
| |
12 | g.5044942C>G | CA383465173 | KCNA5 | c.795C>G (p.Ile265Met)
| ClinVar dbSNP |
12 | g.5044942C>T | CA6399716 | KCNA5 | c.795C>T (p.Ile265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044943A= | CA2013430965 | KCNA5 | c.796A= (p.Thr266=)
| |
12 | g.5044943A>C | CA383465175 | KCNA5 | c.796A>C (p.Thr266Pro)
| gnomAD v4 |
12 | g.5044943A>G | CA383465174 | KCNA5 | c.796A>G (p.Thr266Ala)
| |
12 | g.5044943A>T | CA231867849 | KCNA5 | c.796A>T (p.Thr266Ser)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044944C>A | CA383465176 | KCNA5 | c.797C>A (p.Thr266Asn)
| |
12 | g.5044944C= | CA2013430966 | KCNA5 | c.797C= (p.Thr266=)
| |
12 | g.5044944C>G | CA383465177 | KCNA5 | c.797C>G (p.Thr266Ser)
| |
12 | g.5044944C>T | CA6399717 | KCNA5 | c.797C>T (p.Thr266Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044945C>A | CA478095406 | KCNA5 | c.798C>A (p.Thr266=)
| gnomAD v4 |
12 | g.5044945C= | CA2013430967 | KCNA5 | c.798C= (p.Thr266=)
| |
12 | g.5044945C>G | CA478095407 | KCNA5 | c.798C>G (p.Thr266=)
| |
12 | g.5044945C>T | CA478095408 | KCNA5 | c.798C>T (p.Thr266=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044946T>A | CA383465178 | KCNA5 | c.799T>A (p.Phe267Ile)
| |
12 | g.5044946T>C | CA383465179 | KCNA5 | c.799T>C (p.Phe267Leu)
| |
12 | g.5044946T>G | CA383465180 | KCNA5 | c.799T>G (p.Phe267Val)
| |
12 | g.5044947T>A | CA383465181 | KCNA5 | c.800T>A (p.Phe267Tyr)
| |
12 | g.5044947T>C | CA6399718 | KCNA5 | c.800T>C (p.Phe267Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044947T>G | CA383465182 | KCNA5 | c.800T>G (p.Phe267Cys)
| |
12 | g.5044947T= | CA2013430968 | KCNA5 | c.800T= (p.Phe267=)
| |
12 | g.5044948C>A | CA383465183 | KCNA5 | c.801C>A (p.Phe267Leu)
| |
12 | g.5044948C= | CA2013430969 | KCNA5 | c.801C= (p.Phe267=)
| |
12 | g.5044948C>G | CA383465184 | KCNA5 | c.801C>G (p.Phe267Leu)
| dbSNP gnomAD v4 |
12 | g.5044948C>T | CA478095410 | KCNA5 | c.801C>T (p.Phe267=)
| |
12 | g.5044949T>A | CA383465185 | KCNA5 | c.802T>A (p.Cys268Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044949T>C | CA383465187 | KCNA5 | c.802T>C (p.Cys268Arg)
| |
12 | g.5044949T>G | CA383465186 | KCNA5 | c.802T>G (p.Cys268Gly)
| |
12 | g.5044949T= | CA2013430970 | KCNA5 | c.802T= (p.Cys268=)
| |
12 | g.5044950G>A | CA383465188 | KCNA5 | c.803G>A (p.Cys268Tyr)
| |
12 | g.5044950G>C | CA383465189 | KCNA5 | c.803G>C (p.Cys268Ser)
| |
12 | g.5044950G>T | CA383465190 | KCNA5 | c.803G>T (p.Cys268Phe)
| |
12 | g.5044951C>A | CA383465191 | KCNA5 | c.804C>A (p.Cys268Ter)
| COSMIC |
12 | g.5044951C= | CA2013430971 | KCNA5 | c.804C= (p.Cys268=)
| |
12 | g.5044951C>G | CA383465192 | KCNA5 | c.804C>G (p.Cys268Trp)
| |
12 | g.5044951C>T | CA6399719 | KCNA5 | c.804C>T (p.Cys268=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044952T>A | CA383465193 | KCNA5 | c.805T>A (p.Leu269Met)
| dbSNP |
12 | g.5044952T>C | CA478095413 | KCNA5 | c.805T>C (p.Leu269=)
| |
12 | g.5044952T>G | CA383465194 | KCNA5 | c.805T>G (p.Leu269Val)
| |
12 | g.5044952T= | CA2013430972 | KCNA5 | c.805T= (p.Leu269=)
| |
12 | g.5044953T>A | CA383465195 | KCNA5 | c.806T>A (p.Leu269Ter)
| |
12 | g.5044953T>C | CA383465196 | KCNA5 | c.806T>C (p.Leu269Ser)
| |
12 | g.5044953T>G | CA383465197 | KCNA5 | c.806T>G (p.Leu269Trp)
| |
12 | g.5044954G>A | CA6399720 | KCNA5 | c.807G>A (p.Leu269=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044954G>C | CA383465199 | KCNA5 | c.807G>C (p.Leu269Phe)
| |
12 | g.5044954G= | CA2013430973 | KCNA5 | c.807G= (p.Leu269=)
| |
12 | g.5044954G>T | CA383465198 | KCNA5 | c.807G>T (p.Leu269Phe)
| |
12 | g.5044955G>A | CA383465202 | KCNA5 | c.808G>A (p.Glu270Lys)
| |
12 | g.5044955G>C | CA383465200 | KCNA5 | c.808G>C (p.Glu270Gln)
| COSMIC |
12 | g.5044955G>T | CA383465201 | KCNA5 | c.808G>T (p.Glu270Ter)
| |
12 | g.5044956A= | CA2013430974 | KCNA5 | c.809A= (p.Glu270=)
| |
12 | g.5044956A>C | CA383465203 | KCNA5 | c.809A>C (p.Glu270Ala)
| |
12 | g.5044956A>G | CA383465204 | KCNA5 | c.809A>G (p.Glu270Gly)
| |
12 | g.5044956A>T | CA231867871 | KCNA5 | c.809A>T (p.Glu270Val)
| dbSNP |
12 | g.5044957G>A | CA478095421 | KCNA5 | c.810G>A (p.Glu270=)
| |
12 | g.5044957G>C | CA231867872 | KCNA5 | c.810G>C (p.Glu270Asp)
| dbSNP |
12 | g.5044957G= | CA2013430975 | KCNA5 | c.810G= (p.Glu270=)
| |
12 | g.5044957G>T | CA383465205 | KCNA5 | c.810G>T (p.Glu270Asp)
| |
12 | g.5044958A= | CA2013430976 | KCNA5 | c.811A= (p.Thr271=)
| |
12 | g.5044958A>C | CA383465206 | KCNA5 | c.811A>C (p.Thr271Pro)
| dbSNP gnomAD v4 |
12 | g.5044958A>G | CA383465207 | KCNA5 | c.811A>G (p.Thr271Ala)
| |
12 | g.5044958A>T | CA383465208 | KCNA5 | c.811A>T (p.Thr271Ser)
| |
12 | g.5044959C>A | CA6399721 | KCNA5 | c.812C>A (p.Thr271Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044959C= | CA2013430977 | KCNA5 | c.812C= (p.Thr271=)
| |
12 | g.5044959C>G | CA383465209 | KCNA5 | c.812C>G (p.Thr271Ser)
| gnomAD v4 |
12 | g.5044959C>T | CA383465210 | KCNA5 | c.812C>T (p.Thr271Ile)
| gnomAD v4 |
12 | g.5044960C>A | CA478095427 | KCNA5 | c.813C>A (p.Thr271=)
| dbSNP |
12 | g.5044960C>G | CA478095429 | KCNA5 | c.813C>G (p.Thr271=)
| |
12 | g.5044960C>T | CA478095428 | KCNA5 | c.813C>T (p.Thr271=)
| gnomAD v4 |
12 | g.5044961C>A | CA383465212 | KCNA5 | c.814C>A (p.Leu272Met)
| |
12 | g.5044961C= | CA2013430978 | KCNA5 | c.814C= (p.Leu272=)
| |
12 | g.5044961C>G | CA383465211 | KCNA5 | c.814C>G (p.Leu272Val)
| |
12 | g.5044961C>T | CA478095432 | KCNA5 | c.814C>T (p.Leu272=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044962T>A | CA383465213 | KCNA5 | c.815T>A (p.Leu272Gln)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044962T>C | CA383465214 | KCNA5 | c.815T>C (p.Leu272Pro)
| |
12 | g.5044962T>G | CA383465215 | KCNA5 | c.815T>G (p.Leu272Arg)
| |
12 | g.5044962T= | CA2013430979 | KCNA5 | c.815T= (p.Leu272=)
| |
12 | g.5044963G>A | CA6399722 | KCNA5 | c.816G>A (p.Leu272=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044963G>C | CA478095435 | KCNA5 | c.816G>C (p.Leu272=)
| |
12 | g.5044963G= | CA2013430980 | KCNA5 | c.816G= (p.Leu272=)
| |
12 | g.5044963G>T | CA478095436 | KCNA5 | c.816G>T (p.Leu272=)
| |
12 | g.5044964C>A | CA383465216 | KCNA5 | c.817C>A (p.Pro273Thr)
| gnomAD v4 |
12 | g.5044964C= | CA2013430981 | KCNA5 | c.817C= (p.Pro273=)
| |
12 | g.5044964C>G | CA383465217 | KCNA5 | c.817C>G (p.Pro273Ala)
| |
12 | g.5044964C>T | CA383465218 | KCNA5 | c.817C>T (p.Pro273Ser)
| dbSNP gnomAD v2 COSMIC |
12 | g.5044965C>A | CA383465219 | KCNA5 | c.818C>A (p.Pro273His)
| gnomAD v4 |
12 | g.5044965C>G | CA383465220 | KCNA5 | c.818C>G (p.Pro273Arg)
| |
12 | g.5044965C>T | CA383465221 | KCNA5 | c.818C>T (p.Pro273Leu)
| |
12 | g.5044966T>A | CA478095439 | KCNA5 | c.819T>A (p.Pro273=)
| |
12 | g.5044966T>C | CA478095442 | KCNA5 | c.819T>C (p.Pro273=)
| |
12 | g.5044966T>G | CA478095440 | KCNA5 | c.819T>G (p.Pro273=)
| |
12 | g.5044967G>A | CA383465222 | KCNA5 | c.820G>A (p.Glu274Lys)
| gnomAD v4 |
12 | g.5044967G>C | CA383465223 | KCNA5 | c.820G>C (p.Glu274Gln)
| |
12 | g.5044967G>T | CA383465224 | KCNA5 | c.820G>T (p.Glu274Ter)
| |
12 | g.5044968A>C | CA383465226 | KCNA5 | c.821A>C (p.Glu274Ala)
| |
12 | g.5044968A>G | CA383465227 | KCNA5 | c.821A>G (p.Glu274Gly)
| |
12 | g.5044968A>T | CA383465225 | KCNA5 | c.821A>T (p.Glu274Val)
| gnomAD v4 |
12 | g.5044969G>A | CA478095449 | KCNA5 | c.822G>A (p.Glu274=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044969G>C | CA383465228 | KCNA5 | c.822G>C (p.Glu274Asp)
| |
12 | g.5044969G= | CA2013430982 | KCNA5 | c.822G= (p.Glu274=)
| |
12 | g.5044969G>T | CA383465229 | KCNA5 | c.822G>T (p.Glu274Asp)
| |
12 | g.5044970T>A | CA383465230 | KCNA5 | c.823T>A (p.Phe275Ile)
| |
12 | g.5044970T>C | CA383465231 | KCNA5 | c.823T>C (p.Phe275Leu)
| |
12 | g.5044970T>G | CA383465232 | KCNA5 | c.823T>G (p.Phe275Val)
| |
12 | g.5044971T>A | CA383465233 | KCNA5 | c.824T>A (p.Phe275Tyr)
| gnomAD v4 |
12 | g.5044971T>C | CA383465234 | KCNA5 | c.824T>C (p.Phe275Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044971T>G | CA383465235 | KCNA5 | c.824T>G (p.Phe275Cys)
| |
12 | g.5044971T= | CA2013430983 | KCNA5 | c.824T= (p.Phe275=)
| |
12 | g.5044972C>A | CA231867903 | KCNA5 | c.825C>A (p.Phe275Leu)
| dbSNP |
12 | g.5044972C= | CA2013430984 | KCNA5 | c.825C= (p.Phe275=)
| |
12 | g.5044972C>G | CA383465236 | KCNA5 | c.825C>G (p.Phe275Leu)
| gnomAD v4 |
12 | g.5044972C>T | CA478095455 | KCNA5 | c.825C>T (p.Phe275=)
| |
12 | g.5044973A>C | CA478095456 | KCNA5 | c.826A>C (p.Arg276=)
| |
12 | g.5044973A>G | CA383465237 | KCNA5 | c.826A>G (p.Arg276Gly)
| |
12 | g.5044973A>T | CA383465238 | KCNA5 | c.826A>T (p.Arg276Trp)
| |
12 | g.5044973_5044974del | CA2841912336 | KCNA5 | c.826_827del (p.Arg276GlyfsTer2)
| |
12 | g.5044974G>A | CA6399723 | KCNA5 | c.827G>A (p.Arg276Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044974G>C | CA383465239 | KCNA5 | c.827G>C (p.Arg276Thr)
| |
12 | g.5044974G= | CA2013430985 | KCNA5 | c.827G= (p.Arg276=)
| |
12 | g.5044974G>T | CA383465240 | KCNA5 | c.827G>T (p.Arg276Met)
| |
12 | g.5044975G>A | CA6399724 | KCNA5 | c.828G>A (p.Arg276=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044975G>C | CA383465242 | KCNA5 | c.828G>C (p.Arg276Ser)
| |
12 | g.5044975G= | CA2013430986 | KCNA5 | c.828G= (p.Arg276=)
| |
12 | g.5044975G>T | CA383465241 | KCNA5 | c.828G>T (p.Arg276Ser)
| |
12 | g.5044976G>A | CA6399725 | KCNA5 | c.829G>A (p.Asp277Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044976G>C | CA383465243 | KCNA5 | c.829G>C (p.Asp277His)
| dbSNP gnomAD v4 |
12 | g.5044976G= | CA2013430987 | KCNA5 | c.829G= (p.Asp277=)
| |
12 | g.5044976G>T | CA383465244 | KCNA5 | c.829G>T (p.Asp277Tyr)
| gnomAD v4 |
12 | g.5044977A= | CA2013430988 | KCNA5 | c.830A= (p.Asp277=)
| |
12 | g.5044977A>C | CA383465245 | KCNA5 | c.830A>C (p.Asp277Ala)
| |
12 | g.5044977A>G | CA231867923 | KCNA5 | c.830A>G (p.Asp277Gly)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044977A>T | CA383465246 | KCNA5 | c.830A>T (p.Asp277Val)
| |
12 | g.5044978T>A | CA383465247 | KCNA5 | c.831T>A (p.Asp277Glu)
| gnomAD v4 |
12 | g.5044978T>C | CA478095197 | KCNA5 | c.831T>C (p.Asp277=)
| gnomAD v4 |
12 | g.5044978T>G | CA383465248 | KCNA5 | c.831T>G (p.Asp277Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044978T= | CA2013430989 | KCNA5 | c.831T= (p.Asp277=)
| |
12 | g.5044979G>A | CA383465249 | KCNA5 | c.832G>A (p.Glu278Lys)
| |
12 | g.5044979G>C | CA383465250 | KCNA5 | c.832G>C (p.Glu278Gln)
| |
12 | g.5044979G>T | CA383465251 | KCNA5 | c.832G>T (p.Glu278Ter)
| |
12 | g.5044980A>C | CA383465252 | KCNA5 | c.833A>C (p.Glu278Ala)
| |
12 | g.5044980A>G | CA383465254 | KCNA5 | c.833A>G (p.Glu278Gly)
| |
12 | g.5044980A>T | CA383465253 | KCNA5 | c.833A>T (p.Glu278Val)
| |
12 | g.5044981A= | CA2013430990 | KCNA5 | c.834A= (p.Glu278=)
| |
12 | g.5044981A>C | CA383465255 | KCNA5 | c.834A>C (p.Glu278Asp)
| dbSNP gnomAD v4 |
12 | g.5044981A>G | CA478095210 | KCNA5 | c.834A>G (p.Glu278=)
| gnomAD v4 |
12 | g.5044981A>T | CA383465256 | KCNA5 | c.834A>T (p.Glu278Asp)
| |
12 | g.5044982C>A | CA383465257 | KCNA5 | c.835C>A (p.Arg279Ser)
| COSMIC |
12 | g.5044982C= | CA2013430991 | KCNA5 | c.835C= (p.Arg279=)
| |
12 | g.5044982C>G | CA383465258 | KCNA5 | c.835C>G (p.Arg279Gly)
| |
12 | g.5044982C>T | CA6399726 | KCNA5 | c.835C>T (p.Arg279Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044983G>A | CA6399727 | KCNA5 | c.836G>A (p.Arg279His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044983G>C | CA383465259 | KCNA5 | c.836G>C (p.Arg279Pro)
| gnomAD v4 |
12 | g.5044983G= | CA2013430992 | KCNA5 | c.836G= (p.Arg279=)
| |
12 | g.5044983G>T | CA383465260 | KCNA5 | c.836G>T (p.Arg279Leu)
| dbSNP |
12 | g.5044984T>A | CA6399728 | KCNA5 | c.837T>A (p.Arg279=)
| dbSNP ExAC gnomAD v2 |
12 | g.5044984T>C | CA478095211 | KCNA5 | c.837T>C (p.Arg279=)
| |
12 | g.5044984T>G | CA478095212 | KCNA5 | c.837T>G (p.Arg279=)
| |
12 | g.5044984T= | CA2013430993 | KCNA5 | c.837T= (p.Arg279=)
| |
12 | g.5044985G>A | CA383465261 | KCNA5 | c.838G>A (p.Glu280Lys)
| |
12 | g.5044985G>C | CA383465262 | KCNA5 | c.838G>C (p.Glu280Gln)
| |
12 | g.5044985G>T | CA383465263 | KCNA5 | c.838G>T (p.Glu280Ter)
| |
12 | g.5044986A>C | CA383465266 | KCNA5 | c.839A>C (p.Glu280Ala)
| |
12 | g.5044986A>G | CA383465264 | KCNA5 | c.839A>G (p.Glu280Gly)
| |
12 | g.5044986A>T | CA383465265 | KCNA5 | c.839A>T (p.Glu280Val)
| |
12 | g.5044987G>A | CA478095215 | KCNA5 | c.840G>A (p.Glu280=)
| |
12 | g.5044987G>C | CA383465267 | KCNA5 | c.840G>C (p.Glu280Asp)
| |
12 | g.5044987G>T | CA383465268 | KCNA5 | c.840G>T (p.Glu280Asp)
| gnomAD v4 |
12 | g.5044988C>A | CA383465269 | KCNA5 | c.841C>A (p.Leu281Met)
| gnomAD v4 COSMIC |
12 | g.5044988C= | CA2013430994 | KCNA5 | c.841C= (p.Leu281=)
| |
12 | g.5044988C>G | CA383465270 | KCNA5 | c.841C>G (p.Leu281Val)
| |
12 | g.5044988C>T | CA478095216 | KCNA5 | c.841C>T (p.Leu281=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044988_5044989delinsTA | CA645578787 | KCNA5 | c.841_842delinsTA (p.Leu281Ter)
| COSMIC |
12 | g.5044989T>A | CA383465271 | KCNA5 | c.842T>A (p.Leu281Gln)
| |
12 | g.5044989T>C | CA383465272 | KCNA5 | c.842T>C (p.Leu281Pro)
| |
12 | g.5044989T>G | CA383465273 | KCNA5 | c.842T>G (p.Leu281Arg)
| |
12 | g.5044990G>A | CA6399729 | KCNA5 | c.843G>A (p.Leu281=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044990G>C | CA478095218 | KCNA5 | c.843G>C (p.Leu281=)
| dbSNP gnomAD v2 |
12 | g.5044990G= | CA2013430995 | KCNA5 | c.843G= (p.Leu281=)
| |
12 | g.5044990G>T | CA231867974 | KCNA5 | c.843G>T (p.Leu281=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044991C>A | CA383465274 | KCNA5 | c.844C>A (p.Leu282Ile)
| |
12 | g.5044991C>G | CA383465275 | KCNA5 | c.844C>G (p.Leu282Val)
| |
12 | g.5044991C>T | CA383465276 | KCNA5 | c.844C>T (p.Leu282Phe)
| gnomAD v4 |
12 | g.5044992T>A | CA383465278 | KCNA5 | c.845T>A (p.Leu282His)
| |
12 | g.5044992T>C | CA383465279 | KCNA5 | c.845T>C (p.Leu282Pro)
| gnomAD v4 |
12 | g.5044992T>G | CA383465277 | KCNA5 | c.845T>G (p.Leu282Arg)
| |
12 | g.5044992T= | CA2013430996 | KCNA5 | c.845T= (p.Leu282=)
| |
12 | g.5044993C>A | CA478095225 | KCNA5 | c.846C>A (p.Leu282=)
| |
12 | g.5044993C= | CA2013430997 | KCNA5 | c.846C= (p.Leu282=)
| |
12 | g.5044993C>G | CA478095224 | KCNA5 | c.846C>G (p.Leu282=)
| |
12 | g.5044993C>T | CA478095223 | KCNA5 | c.846C>T (p.Leu282=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044994del | CA2617209906 | KCNA5 | c.847del (p.Arg283AlafsTer?)
| gnomAD v4 |
12 | g.5044995_5045012dup | CA6399730 | KCNA5 | c.848_865dup (p.Pro288_His289insArgHisProProAlaPro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044995_5045012del | CA2617209905 | KCNA5 | c.848_865del (p.Arg283_Pro288del)
| gnomAD v4 |
12 | g.5044994C>A | CA383465280 | KCNA5 | c.847C>A (p.Arg283Ser)
| |
12 | g.5044994C= | CA2013430998 | KCNA5 | c.847C= (p.Arg283=)
| |
12 | g.5044994C>G | CA383465281 | KCNA5 | c.847C>G (p.Arg283Gly)
| |
12 | g.5044994C>T | CA10641639 | KCNA5 | c.847C>T (p.Arg283Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044995G>A | CA6399731 | KCNA5 | c.848G>A (p.Arg283His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044995G>C | CA383465282 | KCNA5 | c.848G>C (p.Arg283Pro)
| gnomAD v4 |
12 | g.5044995G= | CA2013431000 | KCNA5 | c.848G= (p.Arg283=)
| |
12 | g.5044995G>T | CA383465283 | KCNA5 | c.848G>T (p.Arg283Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA | CA2013430999 | KCNA5 | c.848_866delinsGCCACCCTCCGGCGCCCCA (p.Arg283=)
| |
12 | g.5044996C>A | CA478095230 | KCNA5 | c.849C>A (p.Arg283=)
| |
12 | g.5044996C= | CA2013431001 | KCNA5 | c.849C= (p.Arg283=)
| |
12 | g.5044996C>G | CA478095228 | KCNA5 | c.849C>G (p.Arg283=)
| |
12 | g.5044996C>T | CA478095229 | KCNA5 | c.849C>T (p.Arg283=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044999_5045016del | CA6399732 | KCNA5 | c.852_869del (p.His284_His289del)
| ClinVar dbSNP ExAC gnomAD v4 |
12 | g.5044997C>A | CA383465284 | KCNA5 | c.850C>A (p.His284Asn)
| |
12 | g.5044997C= | CA2013431002 | KCNA5 | c.850C= (p.His284=)
| |
12 | g.5044997C>G | CA383465285 | KCNA5 | c.850C>G (p.His284Asp)
| |
12 | g.5044997C>T | CA6399733 | KCNA5 | c.850C>T (p.His284Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044998A>C | CA383465286 | KCNA5 | c.851A>C (p.His284Pro)
| |
12 | g.5044998A>G | CA383465287 | KCNA5 | c.851A>G (p.His284Arg)
| |
12 | g.5044998A>T | CA383465288 | KCNA5 | c.851A>T (p.His284Leu)
| |
12 | g.5044999C>A | CA383465290 | KCNA5 | c.852C>A (p.His284Gln)
| |
12 | g.5044999C= | CA2013431003 | KCNA5 | c.852C= (p.His284=)
| |
12 | g.5044999C>G | CA383465289 | KCNA5 | c.852C>G (p.His284Gln)
| |
12 | g.5044999C>T | CA6399734 | KCNA5 | c.852C>T (p.His284=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045000C>A | CA383465291 | KCNA5 | c.853C>A (p.Pro285Thr)
| |
12 | g.5045000C= | CA2013431004 | KCNA5 | c.853C= (p.Pro285=)
| |
12 | g.5045000C>G | CA383465292 | KCNA5 | c.853C>G (p.Pro285Ala)
| ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.5045000C>T | CA383465293 | KCNA5 | c.853C>T (p.Pro285Ser)
| |
12 | g.5045001C>A | CA383465294 | KCNA5 | c.854C>A (p.Pro285His)
| gnomAD v4 |
12 | g.5045001C= | CA2013431005 | KCNA5 | c.854C= (p.Pro285=)
| |
12 | g.5045001C>G | CA383465295 | KCNA5 | c.854C>G (p.Pro285Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045001C>T | CA383465296 | KCNA5 | c.854C>T (p.Pro285Leu)
| |
12 | g.5045002T>A | CA478095236 | KCNA5 | c.855T>A (p.Pro285=)
| |
12 | g.5045002T>C | CA478095238 | KCNA5 | c.855T>C (p.Pro285=)
| |
12 | g.5045002T>G | CA478095237 | KCNA5 | c.855T>G (p.Pro285=)
| |