2 | g.182838371G>A | CA2013929 | FRZB | c.797+38C>T (n.797+38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838371G= | CA1312515815 | FRZB | c.797+38C= (n.797+38C=)
| |
2 | g.182838371G>T | CA2662236408 | FRZB | c.797+38C>A (n.797+38C>A)
| gnomAD v4 |
2 | g.182838372C>A | CA1039985219 | FRZB | c.797+37G>T (n.797+37G>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838372C= | CA1312515816 | FRZB | c.797+37G= (n.797+37G=)
| |
2 | g.182838373A= | CA1312515817 | FRZB | c.797+36T= (n.797+36T=)
| |
2 | g.182838373A>G | CA761677526 | FRZB | c.797+36T>C (n.797+36T>C)
| dbSNP gnomAD v4 |
2 | g.182838374_182838378del | CA2662236409 | FRZB | c.797+32_797+36del (n.797+32_797+36del)
| gnomAD v4 |
2 | g.182838375A>C | CA2662236410 | FRZB | c.797+34T>G (n.797+34T>G)
| gnomAD v4 |
2 | g.182838376G>T | CA2662236411 | FRZB | c.797+33C>A (n.797+33C>A)
| gnomAD v4 |
2 | g.182838377T>C | CA538439238 | FRZB | c.797+32A>G (n.797+32A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838377T= | CA1312515818 | FRZB | c.797+32A= (n.797+32A=)
| |
2 | g.182838378A= | CA1312515819 | FRZB | c.797+31T= (n.797+31T=)
| |
2 | g.182838378A>G | CA2662236412 | FRZB | c.797+31T>C (n.797+31T>C)
| gnomAD v4 |
2 | g.182838378A>T | CA61680015 | FRZB | c.797+31T>A (n.797+31T>A)
| dbSNP gnomAD v4 |
2 | g.182838379G>C | CA2662236413 | FRZB | c.797+30C>G (n.797+30C>G)
| gnomAD v4 |
2 | g.182838381T>C | CA1312515821 | FRZB | c.797+28A>G (n.797+28A>G)
| dbSNP gnomAD v4 |
2 | g.182838381T= | CA1312515820 | FRZB | c.797+28A= (n.797+28A=)
| |
2 | g.182838381_182838382insTATAGGTTTAC | CA2517432515 | FRZB | c.797+27_797+28insGTAAACCTATA (n.797+27_797+28insGTAAACCTATA)
| |
2 | g.182838384_182838391delinsTCTGTATC | CA1312515822 | FRZB | c.797+18_797+25delinsGATACAGA (n.797+18_797+25delinsGATACAGA)
| |
2 | g.182838387_182838393del | CA2013930 | FRZB | c.797+18_797+24del (n.797+18_797+24del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838387G>A | CA538439239 | FRZB | c.797+22C>T (n.797+22C>T)
| dbSNP gnomAD v2 |
2 | g.182838387G= | CA1312515823 | FRZB | c.797+22C= (n.797+22C=)
| |
2 | g.182838387G>T | CA2662236414 | FRZB | c.797+22C>A (n.797+22C>A)
| gnomAD v4 |
2 | g.182838390T>A | CA2521526560 | FRZB | c.797+19A>T (n.797+19A>T)
| gnomAD v4 |
2 | g.182838391C= | CA1312515824 | FRZB | c.797+18G= (n.797+18G=)
| |
2 | g.182838391C>G | CA2662236415 | FRZB | c.797+18G>C (n.797+18G>C)
| gnomAD v4 |
2 | g.182838391C>T | CA1312515825 | FRZB | c.797+18G>A (n.797+18G>A)
| dbSNP gnomAD v4 |
2 | g.182838392C>A | CA2662236416 | FRZB | c.797+17G>T (n.797+17G>T)
| gnomAD v4 |
2 | g.182838392C= | CA1312515826 | FRZB | c.797+17G= (n.797+17G=)
| |
2 | g.182838392C>T | CA2013931 | FRZB | c.797+17G>A (n.797+17G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838393T>C | CA2013932 | FRZB | c.797+16A>G (n.797+16A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838393T= | CA1312515827 | FRZB | c.797+16A= (n.797+16A=)
| |
2 | g.182838395A= | CA1312515828 | FRZB | c.797+14T= (n.797+14T=)
| |
2 | g.182838395A>C | CA2013933 | FRZB | c.797+14T>G (n.797+14T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838400G>A | CA2013934 | FRZB | c.797+9C>T (n.797+9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838400G= | CA1312515829 | FRZB | c.797+9C= (n.797+9C=)
| |
2 | g.182838402G>A | CA2013935 | FRZB | c.797+7C>T (n.797+7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838402G= | CA1312515830 | FRZB | c.797+7C= (n.797+7C=)
| |
2 | g.182838403A= | CA1312515831 | FRZB | c.797+6T= (n.797+6T=)
| |
2 | g.182838403A>C | CA538439240 | FRZB | c.797+6T>G (n.797+6T>G)
| dbSNP gnomAD v2 |
2 | g.182838403A>T | CA538439241 | FRZB | c.797+6T>A (n.797+6T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838405T>G | CA2662236417 | FRZB | c.797+4A>C (n.797+4A>C)
| gnomAD v4 |
2 | g.182838407A>C | CA349750135 | FRZB | c.797+2T>G (n.797+2T>G)
| |
2 | g.182838407A>G | CA349750136 | FRZB | c.797+2T>C (n.797+2T>C)
| |
2 | g.182838407A>T | CA349750137 | FRZB | c.797+2T>A (n.797+2T>A)
| |
2 | g.182838408C>A | CA349750138 | FRZB | c.797+1G>T (n.797+1G>T)
| |
2 | g.182838408C>G | CA349750139 | FRZB | c.797+1G>C (n.797+1G>C)
| |
2 | g.182838408C>T | CA349750140 | FRZB | c.797+1G>A (n.797+1G>A)
| |
2 | g.182838409C>A | CA349750141 | FRZB | c.797G>T (p.Arg266Ile)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838409C= | CA1312515832 | FRZB | c.797G= (p.Arg266=)
| |
2 | g.182838409C>G | CA349750143 | FRZB | c.797G>C (p.Arg266Thr)
| |
2 | g.182838409C>T | CA349750142 | FRZB | c.797G>A (p.Arg266Lys)
| |
2 | g.182838410T>A | CA349750144 | FRZB | c.796A>T (p.Arg266Ter)
| |
2 | g.182838410T>C | CA349750145 | FRZB | c.796A>G (p.Arg266Gly)
| |
2 | g.182838410T>G | CA430431976 | FRZB | c.796A>C (p.Arg266=)
| |
2 | g.182838411G>A | CA430431981 | FRZB | c.795C>T (p.Ser265=)
| |
2 | g.182838411G>C | CA430431980 | FRZB | c.795C>G (p.Ser265=)
| |
2 | g.182838411G>T | CA430431979 | FRZB | c.795C>A (p.Ser265=)
| |
2 | g.182838412del | CA2577180414 | FRZB | c.795del (p.Arg266AspfsTer9)
| |
2 | g.182838412G>A | CA349750146 | FRZB | c.794C>T (p.Ser265Phe)
| |
2 | g.182838412G>C | CA349750147 | FRZB | c.794C>G (p.Ser265Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838412G= | CA1312515833 | FRZB | c.794C= (p.Ser265=)
| |
2 | g.182838412G>T | CA349750148 | FRZB | c.794C>A (p.Ser265Tyr)
| |
2 | g.182838413A= | CA1312515834 | FRZB | c.793T= (p.Ser265=)
| |
2 | g.182838413A>C | CA349750149 | FRZB | c.793T>G (p.Ser265Ala)
| |
2 | g.182838413A>G | CA349750151 | FRZB | c.793T>C (p.Ser265Pro)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838413A>T | CA349750150 | FRZB | c.793T>A (p.Ser265Thr)
| |
2 | g.182838414A>C | CA430431986 | FRZB | c.792T>G (p.Arg264=)
| |
2 | g.182838414A>G | CA430431987 | FRZB | c.792T>C (p.Arg264=)
| |
2 | g.182838414A>T | CA430431988 | FRZB | c.792T>A (p.Arg264=)
| |
2 | g.182838415C>A | CA349750152 | FRZB | c.791G>T (p.Arg264Leu)
| gnomAD v4 |
2 | g.182838415C= | CA1312515835 | FRZB | c.791G= (p.Arg264=)
| |
2 | g.182838415C>G | CA349750153 | FRZB | c.791G>C (p.Arg264Pro)
| |
2 | g.182838415C>T | CA2013936 | FRZB | c.791G>A (p.Arg264His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838416G>A | CA2013937 | FRZB | c.790C>T (p.Arg264Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838416G>C | CA349750154 | FRZB | c.790C>G (p.Arg264Gly)
| |
2 | g.182838416G= | CA1312515836 | FRZB | c.790C= (p.Arg264=)
| |
2 | g.182838416G>T | CA349750155 | FRZB | c.790C>A (p.Arg264Ser)
| gnomAD v4 |
2 | g.182838417T>A | CA349750156 | FRZB | c.789A>T (p.Glu263Asp)
| |
2 | g.182838417T>C | CA61680056 | FRZB | c.789A>G (p.Glu263=)
| dbSNP gnomAD v4 COSMIC |
2 | g.182838417T>G | CA349750157 | FRZB | c.789A>C (p.Glu263Asp)
| |
2 | g.182838417T= | CA1312515837 | FRZB | c.789A= (p.Glu263=)
| |
2 | g.182838418T>A | CA349750158 | FRZB | c.788A>T (p.Glu263Val)
| |
2 | g.182838418T>C | CA349750159 | FRZB | c.788A>G (p.Glu263Gly)
| |
2 | g.182838418T>G | CA349750160 | FRZB | c.788A>C (p.Glu263Ala)
| |
2 | g.182838419C>A | CA349750162 | FRZB | c.787G>T (p.Glu263Ter)
| |
2 | g.182838419C= | CA1312515838 | FRZB | c.787G= (p.Glu263=)
| |
2 | g.182838419C>G | CA349750161 | FRZB | c.787G>C (p.Glu263Gln)
| |
2 | g.182838419C>T | CA2013938 | FRZB | c.787G>A (p.Glu263Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838420C>A | CA349750163 | FRZB | c.786G>T (p.Glu262Asp)
| |
2 | g.182838420C>G | CA349750164 | FRZB | c.786G>C (p.Glu262Asp)
| |
2 | g.182838420C>T | CA430431998 | FRZB | c.786G>A (p.Glu262=)
| |
2 | g.182838421T>A | CA349750165 | FRZB | c.785A>T (p.Glu262Val)
| |
2 | g.182838421T>C | CA349750166 | FRZB | c.785A>G (p.Glu262Gly)
| |
2 | g.182838421T>G | CA349750167 | FRZB | c.785A>C (p.Glu262Ala)
| COSMIC |
2 | g.182838422C>A | CA349750168 | FRZB | c.784G>T (p.Glu262Ter)
| |
2 | g.182838422C>G | CA349750169 | FRZB | c.784G>C (p.Glu262Gln)
| |
2 | g.182838422C>T | CA349750170 | FRZB | c.784G>A (p.Glu262Lys)
| |
2 | g.182838423A>C | CA349750171 | FRZB | c.783T>G (p.Asp261Glu)
| |
2 | g.182838423A>G | CA430432005 | FRZB | c.783T>C (p.Asp261=)
| gnomAD v4 |
2 | g.182838423A>T | CA349750172 | FRZB | c.783T>A (p.Asp261Glu)
| |
2 | g.182838424T>A | CA349750173 | FRZB | c.782A>T (p.Asp261Val)
| |
2 | g.182838424T>C | CA349750174 | FRZB | c.782A>G (p.Asp261Gly)
| |
2 | g.182838424T>G | CA349750175 | FRZB | c.782A>C (p.Asp261Ala)
| |
2 | g.182838425C>A | CA349750181 | FRZB | c.781G>T (p.Asp261Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838425C= | CA1312515839 | FRZB | c.781G= (p.Asp261=)
| |
2 | g.182838425C>G | CA349750179 | FRZB | c.781G>C (p.Asp261His)
| |
2 | g.182838425C>T | CA349750177 | FRZB | c.781G>A (p.Asp261Asn)
| |
2 | g.182838426T>A | CA349750183 | FRZB | c.780A>T (p.Glu260Asp)
| |
2 | g.182838426T>C | CA430432018 | FRZB | c.780A>G (p.Glu260=)
| |
2 | g.182838426T>G | CA349750184 | FRZB | c.780A>C (p.Glu260Asp)
| |
2 | g.182838427T>A | CA349750187 | FRZB | c.779A>T (p.Glu260Val)
| |
2 | g.182838427T>C | CA349750189 | FRZB | c.779A>G (p.Glu260Gly)
| |
2 | g.182838427T>G | CA349750190 | FRZB | c.779A>C (p.Glu260Ala)
| |
2 | g.182838427_182838428delinsTC | CA1312515840 | FRZB | c.778_779delinsGA (p.Glu260=)
| |
2 | g.182838428del | CA761677570 | FRZB | c.778del (p.Glu260LysfsTer15)
| dbSNP |
2 | g.182838428C>A | CA349750193 | FRZB | c.778G>T (p.Glu260Ter)
| dbSNP gnomAD v4 |
2 | g.182838428C= | CA1312515841 | FRZB | c.778G= (p.Glu260=)
| |
2 | g.182838428C>G | CA349750195 | FRZB | c.778G>C (p.Glu260Gln)
| |
2 | g.182838428C>T | CA349750196 | FRZB | c.778G>A (p.Glu260Lys)
| dbSNP gnomAD v2 |
2 | g.182838429A= | CA1312515842 | FRZB | c.777T= (p.Tyr259=)
| |
2 | g.182838429A>C | CA349750198 | FRZB | c.777T>G (p.Tyr259Ter)
| |
2 | g.182838429A>G | CA430432029 | FRZB | c.777T>C (p.Tyr259=)
| gnomAD v4 |
2 | g.182838429A>T | CA349750200 | FRZB | c.777T>A (p.Tyr259Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838430T>A | CA349750202 | FRZB | c.776A>T (p.Tyr259Phe)
| |
2 | g.182838430T>C | CA349750204 | FRZB | c.776A>G (p.Tyr259Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.182838430T>G | CA349750206 | FRZB | c.776A>C (p.Tyr259Ser)
| |
2 | g.182838430T= | CA1312515843 | FRZB | c.776A= (p.Tyr259=)
| |
2 | g.182838431A>C | CA349750210 | FRZB | c.775T>G (p.Tyr259Asp)
| |
2 | g.182838431A>G | CA349750212 | FRZB | c.775T>C (p.Tyr259His)
| |
2 | g.182838431A>T | CA349750209 | FRZB | c.775T>A (p.Tyr259Asn)
| |
2 | g.182838432G>A | CA430432032 | FRZB | c.774C>T (p.Gly258=)
| |
2 | g.182838432G>C | CA430432034 | FRZB | c.774C>G (p.Gly258=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838432G= | CA1312515844 | FRZB | c.774C= (p.Gly258=)
| |
2 | g.182838432G>T | CA430432033 | FRZB | c.774C>A (p.Gly258=)
| |
2 | g.182838433C>A | CA349750215 | FRZB | c.773G>T (p.Gly258Val)
| |
2 | g.182838433C>G | CA349750219 | FRZB | c.773G>C (p.Gly258Ala)
| |
2 | g.182838433C>T | CA349750217 | FRZB | c.773G>A (p.Gly258Asp)
| |
2 | g.182838434C>A | CA349750221 | FRZB | c.772G>T (p.Gly258Cys)
| |
2 | g.182838434C>G | CA349750222 | FRZB | c.772G>C (p.Gly258Arg)
| |
2 | g.182838434C>T | CA349750223 | FRZB | c.772G>A (p.Gly258Ser)
| |
2 | g.182838435C>A | CA349750226 | FRZB | c.771G>T (p.Met257Ile)
| |
2 | g.182838435C>G | CA349750228 | FRZB | c.771G>C (p.Met257Ile)
| |
2 | g.182838435C>T | CA349750229 | FRZB | c.771G>A (p.Met257Ile)
| gnomAD v4 |
2 | g.182838436A= | CA1312515845 | FRZB | c.770T= (p.Met257=)
| |
2 | g.182838436A>C | CA349750231 | FRZB | c.770T>G (p.Met257Arg)
| |
2 | g.182838436A>G | CA2013939 | FRZB | c.770T>C (p.Met257Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838436A>T | CA349750234 | FRZB | c.770T>A (p.Met257Lys)
| |
2 | g.182838437T>A | CA349750237 | FRZB | c.769A>T (p.Met257Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838437T>C | CA349750240 | FRZB | c.769A>G (p.Met257Val)
| |
2 | g.182838437T>G | CA349750242 | FRZB | c.769A>C (p.Met257Leu)
| |
2 | g.182838437T= | CA1312515846 | FRZB | c.769A= (p.Met257=)
| |
2 | g.182838438G>A | CA430432040 | FRZB | c.768C>T (p.Ile256=)
| |
2 | g.182838438G>C | CA349750244 | FRZB | c.768C>G (p.Ile256Met)
| |
2 | g.182838438G>T | CA430432042 | FRZB | c.768C>A (p.Ile256=)
| COSMIC |
2 | g.182838439A>C | CA349750246 | FRZB | c.767T>G (p.Ile256Ser)
| |
2 | g.182838439A>G | CA349750250 | FRZB | c.767T>C (p.Ile256Thr)
| |
2 | g.182838439A>T | CA349750248 | FRZB | c.767T>A (p.Ile256Asn)
| |
2 | g.182838440T>A | CA349750253 | FRZB | c.766A>T (p.Ile256Phe)
| |
2 | g.182838440T>C | CA349750255 | FRZB | c.766A>G (p.Ile256Val)
| |
2 | g.182838440T>G | CA349750257 | FRZB | c.766A>C (p.Ile256Leu)
| gnomAD v4 |
2 | g.182838441G>A | CA430432044 | FRZB | c.765C>T (p.Ile255=)
| |
2 | g.182838441G>C | CA349750259 | FRZB | c.765C>G (p.Ile255Met)
| |
2 | g.182838441G= | CA1312515847 | FRZB | c.765C= (p.Ile255=)
| |
2 | g.182838441G>T | CA61680064 | FRZB | c.765C>A (p.Ile255=)
| dbSNP gnomAD v4 |
2 | g.182838442A= | CA1312515848 | FRZB | c.764T= (p.Ile255=)
| |
2 | g.182838442A>C | CA349750261 | FRZB | c.764T>G (p.Ile255Ser)
| |
2 | g.182838442A>G | CA349750263 | FRZB | c.764T>C (p.Ile255Thr)
| |
2 | g.182838442A>T | CA349750265 | FRZB | c.764T>A (p.Ile255Asn)
| dbSNP |
2 | g.182838443T>A | CA349750267 | FRZB | c.763A>T (p.Ile255Phe)
| gnomAD v4 |
2 | g.182838443T>C | CA349750269 | FRZB | c.763A>G (p.Ile255Val)
| gnomAD v4 |
2 | g.182838443T>G | CA349750270 | FRZB | c.763A>C (p.Ile255Leu)
| |
2 | g.182838444A= | CA1312515849 | FRZB | c.762T= (p.Tyr254=)
| |
2 | g.182838444A>C | CA349750275 | FRZB | c.762T>G (p.Tyr254Ter)
| |
2 | g.182838444A>G | CA2013940 | FRZB | c.762T>C (p.Tyr254=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838444A>T | CA349750272 | FRZB | c.762T>A (p.Tyr254Ter)
| |
2 | g.182838445T>A | CA349750278 | FRZB | c.761A>T (p.Tyr254Phe)
| |
2 | g.182838445T>C | CA349750280 | FRZB | c.761A>G (p.Tyr254Cys)
| gnomAD v4 |
2 | g.182838445T>G | CA349750282 | FRZB | c.761A>C (p.Tyr254Ser)
| |
2 | g.182838446A>C | CA349750284 | FRZB | c.760T>G (p.Tyr254Asp)
| |
2 | g.182838446A>G | CA349750285 | FRZB | c.760T>C (p.Tyr254His)
| COSMIC |
2 | g.182838446A>T | CA349750287 | FRZB | c.760T>A (p.Tyr254Asn)
| |
2 | g.182838447T>A | CA349750289 | FRZB | c.759A>T (p.Glu253Asp)
| |
2 | g.182838447T>C | CA430432050 | FRZB | c.759A>G (p.Glu253=)
| |
2 | g.182838447T>G | CA349750290 | FRZB | c.759A>C (p.Glu253Asp)
| |
2 | g.182838448T>A | CA349750294 | FRZB | c.758A>T (p.Glu253Val)
| |
2 | g.182838448T>C | CA349750295 | FRZB | c.758A>G (p.Glu253Gly)
| |
2 | g.182838448T>G | CA349750297 | FRZB | c.758A>C (p.Glu253Ala)
| |
2 | g.182838449C>A | CA349750300 | FRZB | c.757G>T (p.Glu253Ter)
| gnomAD v4 |
2 | g.182838449C>G | CA349750301 | FRZB | c.757G>C (p.Glu253Gln)
| |
2 | g.182838449C>T | CA349750304 | FRZB | c.757G>A (p.Glu253Lys)
| |
2 | g.182838450C>A | CA349750306 | FRZB | c.756G>T (p.Glu252Asp)
| |
2 | g.182838450C= | CA1312515850 | FRZB | c.756G= (p.Glu252=)
| |
2 | g.182838450C>G | CA349750307 | FRZB | c.756G>C (p.Glu252Asp)
| gnomAD v4 |
2 | g.182838450C>T | CA430432051 | FRZB | c.756G>A (p.Glu252=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838451T>A | CA61680071 | FRZB | c.755A>T (p.Glu252Val)
| dbSNP |
2 | g.182838451T>C | CA349750309 | FRZB | c.755A>G (p.Glu252Gly)
| COSMIC |
2 | g.182838451T>G | CA349750311 | FRZB | c.755A>C (p.Glu252Ala)
| |
2 | g.182838451T= | CA1312515851 | FRZB | c.755A= (p.Glu252=)
| |
2 | g.182838452C>A | CA349750314 | FRZB | c.754G>T (p.Glu252Ter)
| |
2 | g.182838452C= | CA1312515852 | FRZB | c.754G= (p.Glu252=)
| |
2 | g.182838452C>G | CA349750315 | FRZB | c.754G>C (p.Glu252Gln)
| gnomAD v4 |
2 | g.182838452C>T | CA349750317 | FRZB | c.754G>A (p.Glu252Lys)
| dbSNP gnomAD v4 |
2 | g.182838458_182838463del | CA2577180415 | FRZB | c.749_754del (p.Val250_Asn251del)
| |
2 | g.182838453A= | CA1312515853 | FRZB | c.753T= (p.Asn251=)
| |
2 | g.182838453A>C | CA349750319 | FRZB | c.753T>G (p.Asn251Lys)
| |
2 | g.182838453A>G | CA2013941 | FRZB | c.753T>C (p.Asn251=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838453A>T | CA349750322 | FRZB | c.753T>A (p.Asn251Lys)
| |
2 | g.182838454T>A | CA349750324 | FRZB | c.752A>T (p.Asn251Ile)
| |
2 | g.182838454T>C | CA2013942 | FRZB | c.752A>G (p.Asn251Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838454T>G | CA349750327 | FRZB | c.752A>C (p.Asn251Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838454T= | CA1312515854 | FRZB | c.752A= (p.Asn251=)
| |
2 | g.182838455T>A | CA349750329 | FRZB | c.751A>T (p.Asn251Tyr)
| gnomAD v4 |
2 | g.182838455T>C | CA349750333 | FRZB | c.751A>G (p.Asn251Asp)
| |
2 | g.182838455T>G | CA349750331 | FRZB | c.751A>C (p.Asn251His)
| gnomAD v4 |
2 | g.182838456A>C | CA430432053 | FRZB | c.750T>G (p.Val250=)
| |
2 | g.182838456A>G | CA430432054 | FRZB | c.750T>C (p.Val250=)
| gnomAD v4 |
2 | g.182838456A>T | CA430432055 | FRZB | c.750T>A (p.Val250=)
| |
2 | g.182838457A>C | CA349750334 | FRZB | c.749T>G (p.Val250Gly)
| |
2 | g.182838457A>G | CA349750338 | FRZB | c.749T>C (p.Val250Ala)
| |
2 | g.182838457A>T | CA349750336 | FRZB | c.749T>A (p.Val250Asp)
| |
2 | g.182838458C>A | CA349750340 | FRZB | c.748G>T (p.Val250Phe)
| |
2 | g.182838458C= | CA1312515855 | FRZB | c.748G= (p.Val250=)
| |
2 | g.182838458C>G | CA349750344 | FRZB | c.748G>C (p.Val250Leu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838458C>T | CA349750342 | FRZB | c.748G>A (p.Val250Ile)
| dbSNP gnomAD v4 |
2 | g.182838459A= | CA1312515856 | FRZB | c.747T= (p.Asn249=)
| |
2 | g.182838459A>C | CA349750346 | FRZB | c.747T>G (p.Asn249Lys)
| |
2 | g.182838459A>G | CA430432056 | FRZB | c.747T>C (p.Asn249=)
| |
2 | g.182838459A>T | CA2013943 | FRZB | c.747T>A (p.Asn249Lys)
| dbSNP ExAC gnomAD v2 |
2 | g.182838460T>A | CA349750350 | FRZB | c.746A>T (p.Asn249Ile)
| |
2 | g.182838460T>C | CA349750352 | FRZB | c.746A>G (p.Asn249Ser)
| |
2 | g.182838460T>G | CA349750353 | FRZB | c.746A>C (p.Asn249Thr)
| |
2 | g.182838461T>A | CA349750355 | FRZB | c.745A>T (p.Asn249Tyr)
| |
2 | g.182838461T>C | CA349750357 | FRZB | c.745A>G (p.Asn249Asp)
| |
2 | g.182838461T>G | CA349750359 | FRZB | c.745A>C (p.Asn249His)
| |
2 | g.182838462A>C | CA430432057 | FRZB | c.744T>G (p.Leu248=)
| |
2 | g.182838462A>G | CA430432058 | FRZB | c.744T>C (p.Leu248=)
| |
2 | g.182838462A>T | CA430432059 | FRZB | c.744T>A (p.Leu248=)
| |
2 | g.182838463A>C | CA349750362 | FRZB | c.743T>G (p.Leu248Arg)
| |
2 | g.182838463A>G | CA349750364 | FRZB | c.743T>C (p.Leu248Pro)
| |
2 | g.182838463A>T | CA349750366 | FRZB | c.743T>A (p.Leu248His)
| |
2 | g.182838464G>A | CA349750372 | FRZB | c.742C>T (p.Leu248Phe)
| dbSNP gnomAD v4 |
2 | g.182838464G>C | CA349750368 | FRZB | c.742C>G (p.Leu248Val)
| |
2 | g.182838464G= | CA1312515857 | FRZB | c.742C= (p.Leu248=)
| |
2 | g.182838464G>T | CA349750370 | FRZB | c.742C>A (p.Leu248Ile)
| gnomAD v4 |
2 | g.182838465T>A | CA430432060 | FRZB | c.741A>T (p.Pro247=)
| |
2 | g.182838465T>C | CA2013944 | FRZB | c.741A>G (p.Pro247=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838465T>G | CA430432061 | FRZB | c.741A>C (p.Pro247=)
| |
2 | g.182838465T= | CA1312515858 | FRZB | c.741A= (p.Pro247=)
| |
2 | g.182838466G>A | CA349750375 | FRZB | c.740C>T (p.Pro247Leu)
| |
2 | g.182838466G>C | CA349750378 | FRZB | c.740C>G (p.Pro247Arg)
| |
2 | g.182838466G>T | CA349750380 | FRZB | c.740C>A (p.Pro247Gln)
| |
2 | g.182838467G>A | CA349750382 | FRZB | c.739C>T (p.Pro247Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838467G>C | CA349750384 | FRZB | c.739C>G (p.Pro247Ala)
| |
2 | g.182838467G= | CA1312515859 | FRZB | c.739C= (p.Pro247=)
| |
2 | g.182838467G>T | CA349750385 | FRZB | c.739C>A (p.Pro247Thr)
| |
2 | g.182838468A>C | CA430432062 | FRZB | c.738T>G (p.Pro246=)
| gnomAD v4 |
2 | g.182838468A>G | CA430432063 | FRZB | c.738T>C (p.Pro246=)
| |
2 | g.182838468A>T | CA430432064 | FRZB | c.738T>A (p.Pro246=)
| |
2 | g.182838469G>A | CA349750388 | FRZB | c.737C>T (p.Pro246Leu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838469G>C | CA349750389 | FRZB | c.737C>G (p.Pro246Arg)
| |
2 | g.182838469G= | CA1312515860 | FRZB | c.737C= (p.Pro246=)
| |
2 | g.182838469G>T | CA349750391 | FRZB | c.737C>A (p.Pro246His)
| |
2 | g.182838471del | CA2662236418 | FRZB | c.737del (p.Pro246LeufsTer29)
| gnomAD v4 |
2 | g.182838470G>A | CA61680092 | FRZB | c.736C>T (p.Pro246Ser)
| dbSNP gnomAD v4 COSMIC |
2 | g.182838470G>C | CA349750396 | FRZB | c.736C>G (p.Pro246Ala)
| |
2 | g.182838470G= | CA1312515861 | FRZB | c.736C= (p.Pro246=)
| |
2 | g.182838470G>T | CA349750394 | FRZB | c.736C>A (p.Pro246Thr)
| |
2 | g.182838471G>A | CA430432065 | FRZB | c.735C>T (p.Cys245=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838471G>C | CA349750398 | FRZB | c.735C>G (p.Cys245Trp)
| |
2 | g.182838471G= | CA1312515862 | FRZB | c.735C= (p.Cys245=)
| |
2 | g.182838471G>T | CA349750400 | FRZB | c.735C>A (p.Cys245Ter)
| dbSNP gnomAD v2 gnomAD v4 |