Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.153819528dup | CA2841384276 | GATAD2B | c.42+83dup (n.42+83dup) c.465+83dup (n.465+83dup) | |
1 | g.153819528del | CA2566497058 | GATAD2B | c.42+83del (n.42+83del) c.465+83del (n.465+83del) | gnomAD v4 |
1 | g.153819528A>C | CA2648092251 | GATAD2B | c.42+78T>G (n.42+78T>G) c.465+78T>G (n.465+78T>G) | gnomAD v4 |
1 | g.153819529C>A | CA2648092252 | GATAD2B | c.42+77G>T (n.42+77G>T) c.465+77G>T (n.465+77G>T) | gnomAD v4 |
1 | g.153819529C= | CA2480603155 | GATAD2B | c.42+77G= (n.42+77G=) c.465+77G= (n.465+77G=) | |
1 | g.153819529C>T | CA2480603156 | GATAD2B | c.42+77G>A (n.42+77G>A) c.465+77G>A (n.465+77G>A) | dbSNP gnomAD v4 |
1 | g.153819530A>G | CA2544253854 | GATAD2B | c.42+76T>C (n.42+76T>C) c.465+76T>C (n.465+76T>C) | gnomAD v4 |
1 | g.153819530A>T | CA2648092254 | GATAD2B | c.42+76T>A (n.42+76T>A) c.465+76T>A (n.465+76T>A) | gnomAD v4 |
1 | g.153819530dup | CA2648092253 | GATAD2B | c.42+76dup (n.42+76dup) c.465+76dup (n.465+76dup) | gnomAD v4 |
1 | g.153819531G>C | CA2480603158 | GATAD2B | c.42+75C>G (n.42+75C>G) c.465+75C>G (n.465+75C>G) | dbSNP gnomAD v4 |
1 | g.153819531G= | CA2480603157 | GATAD2B | c.42+75C= (n.42+75C=) c.465+75C= (n.465+75C=) | |
1 | g.153819531G>T | CA2648092255 | GATAD2B | c.42+75C>A (n.42+75C>A) c.465+75C>A (n.465+75C>A) | gnomAD v4 |
1 | g.153819532A= | CA2480603159 | GATAD2B | c.42+74T= (n.42+74T=) c.465+74T= (n.465+74T=) | |
1 | g.153819532A>C | CA2838795219 | GATAD2B | c.42+74T>G (n.42+74T>G) c.465+74T>G (n.465+74T>G) | |
1 | g.153819532A>G | CA30710783 | GATAD2B | c.42+74T>C (n.42+74T>C) c.465+74T>C (n.465+74T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819532A>T | CA30710777 | GATAD2B | c.42+74T>A (n.42+74T>A) c.465+74T>A (n.465+74T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819533A>C | CA2648092256 | GATAD2B | c.42+73T>G (n.42+73T>G) c.465+73T>G (n.465+73T>G) | gnomAD v4 |
1 | g.153819538A= | CA2480603160 | GATAD2B | c.42+68T= (n.42+68T=) c.465+68T= (n.465+68T=) | |
1 | g.153819538A>C | CA2648092257 | GATAD2B | c.42+68T>G (n.42+68T>G) c.465+68T>G (n.465+68T>G) | gnomAD v4 |
1 | g.153819538A>G | CA889542944 | GATAD2B | c.42+68T>C (n.42+68T>C) c.465+68T>C (n.465+68T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819539T>A | CA2697292471 | GATAD2B | c.42+67A>T (n.42+67A>T) c.465+67A>T (n.465+67A>T) | dbSNP |
1 | g.153819539T>C | CA2480603161 | GATAD2B | c.42+67A>G (n.42+67A>G) c.465+67A>G (n.465+67A>G) | dbSNP |
1 | g.153819539T= | CA2480603162 | GATAD2B | c.42+67A= (n.42+67A=) c.465+67A= (n.465+67A=) | |
1 | g.153819540C>A | CA2648092258 | GATAD2B | c.42+66G>T (n.42+66G>T) c.465+66G>T (n.465+66G>T) | gnomAD v4 |
1 | g.153819540C= | CA2480603163 | GATAD2B | c.42+66G= (n.42+66G=) c.465+66G= (n.465+66G=) | |
1 | g.153819540C>G | CA2574060242 | GATAD2B | c.42+66G>C (n.42+66G>C) c.465+66G>C (n.465+66G>C) | |
1 | g.153819540C>T | CA2480603164 | GATAD2B | c.42+66G>A (n.42+66G>A) c.465+66G>A (n.465+66G>A) | dbSNP gnomAD v4 |
1 | g.153819541T>C | CA2480603166 | GATAD2B | c.42+65A>G (n.42+65A>G) c.465+65A>G (n.465+65A>G) | dbSNP gnomAD v4 |
1 | g.153819541T= | CA2480603165 | GATAD2B | c.42+65A= (n.42+65A=) c.465+65A= (n.465+65A=) | |
1 | g.153819542C= | CA2480603167 | GATAD2B | c.42+64G= (n.42+64G=) c.465+64G= (n.465+64G=) | |
1 | g.153819542C>T | CA889542946 | GATAD2B | c.42+64G>A (n.42+64G>A) c.465+64G>A (n.465+64G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819543T>C | CA30710785 | GATAD2B | c.42+63A>G (n.42+63A>G) c.465+63A>G (n.465+63A>G) | dbSNP |
1 | g.153819543T>G | CA2648092259 | GATAD2B | c.42+63A>C (n.42+63A>C) c.465+63A>C (n.465+63A>C) | gnomAD v4 |
1 | g.153819543T= | CA2480603168 | GATAD2B | c.42+63A= (n.42+63A=) c.465+63A= (n.465+63A=) | |
1 | g.153819545G>T | CA2574060243 | GATAD2B | c.42+61C>A (n.42+61C>A) c.465+61C>A (n.465+61C>A) | gnomAD v4 |
1 | g.153819547G>T | CA2648092260 | GATAD2B | c.42+59C>A (n.42+59C>A) c.465+59C>A (n.465+59C>A) | gnomAD v4 |
1 | g.153819548G>A | CA30710800 | GATAD2B | c.42+58C>T (n.42+58C>T) c.465+58C>T (n.465+58C>T) | dbSNP gnomAD v4 |
1 | g.153819548G= | CA2480603169 | GATAD2B | c.42+58C= (n.42+58C=) c.465+58C= (n.465+58C=) | |
1 | g.153819548G>T | CA889542957 | GATAD2B | c.42+58C>A (n.42+58C>A) c.465+58C>A (n.465+58C>A) | dbSNP gnomAD v4 |
1 | g.153819550A>G | CA2574060244 | GATAD2B | c.42+56T>C (n.42+56T>C) c.465+56T>C (n.465+56T>C) | gnomAD v4 |
1 | g.153819551T>C | CA2480603171 | GATAD2B | c.42+55A>G (n.42+55A>G) c.465+55A>G (n.465+55A>G) | dbSNP |
1 | g.153819551T= | CA2480603170 | GATAD2B | c.42+55A= (n.42+55A=) c.465+55A= (n.465+55A=) | |
1 | g.153819552T>G | CA526369902 | GATAD2B | c.42+54A>C (n.42+54A>C) c.465+54A>C (n.465+54A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819552T= | CA2480603173 | GATAD2B | c.42+54A= (n.42+54A=) c.465+54A= (n.465+54A=) | |
1 | g.153819552_153819557delinsTAAATA | CA2480603172 | GATAD2B | c.42+49_42+54delinsTATTTA (n.42+49_42+54delinsTATTTA) c.465+49_465+54delinsTATTTA (n.465+49_465+54delinsTATTTA) | |
1 | g.153819553A= | CA2480603174 | GATAD2B | c.42+53T= (n.42+53T=) c.465+53T= (n.465+53T=) | |
1 | g.153819553A>C | CA2480603175 | GATAD2B | c.42+53T>G (n.42+53T>G) c.465+53T>G (n.465+53T>G) | dbSNP |
1 | g.153819553A>T | CA2648092261 | GATAD2B | c.42+53T>A (n.42+53T>A) c.465+53T>A (n.465+53T>A) | gnomAD v4 |
1 | g.153819558_153819562del | CA889542966 | GATAD2B | c.42+49_42+53del (n.42+49_42+53del) c.465+49_465+53del (n.465+49_465+53del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819554A>C | CA2648092262 | GATAD2B | c.42+52T>G (n.42+52T>G) c.465+52T>G (n.465+52T>G) | gnomAD v4 |
1 | g.153819554A>G | CA2648092263 | GATAD2B | c.42+52T>C (n.42+52T>C) c.465+52T>C (n.465+52T>C) | gnomAD v4 |
1 | g.153819555A= | CA2480603176 | GATAD2B | c.42+51T= (n.42+51T=) c.465+51T= (n.465+51T=) | |
1 | g.153819555A>G | CA1120853 | GATAD2B | c.42+51T>C (n.42+51T>C) c.465+51T>C (n.465+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819557A= | CA2480603177 | GATAD2B | c.42+49T= (n.42+49T=) c.465+49T= (n.465+49T=) | |
1 | g.153819557A>C | CA2648092264 | GATAD2B | c.42+49T>G (n.42+49T>G) c.465+49T>G (n.465+49T>G) | gnomAD v4 |
1 | g.153819557A>G | CA889542968 | GATAD2B | c.42+49T>C (n.42+49T>C) c.465+49T>C (n.465+49T>C) | dbSNP |
1 | g.153819558A>T | CA2648092265 | GATAD2B | c.42+48T>A (n.42+48T>A) c.465+48T>A (n.465+48T>A) | gnomAD v4 |
1 | g.153819561T>C | CA526369905 | GATAD2B | c.42+45A>G (n.42+45A>G) c.465+45A>G (n.465+45A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819561T= | CA2480603179 | GATAD2B | c.42+45A= (n.42+45A=) c.465+45A= (n.465+45A=) | |
1 | g.153819561_153819565delinsTAGAA | CA2480603178 | GATAD2B | c.42+41_42+45delinsTTCTA (n.42+41_42+45delinsTTCTA) c.465+41_465+45delinsTTCTA (n.465+41_465+45delinsTTCTA) | |
1 | g.153819562A>G | CA2648092266 | GATAD2B | c.42+44T>C (n.42+44T>C) c.465+44T>C (n.465+44T>C) | gnomAD v4 |
1 | g.153819562_153819565del | CA1120854 | GATAD2B | c.42+41_42+44del (n.42+41_42+44del) c.465+41_465+44del (n.465+41_465+44del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819563G>A | CA2648092267 | GATAD2B | c.42+43C>T (n.42+43C>T) c.465+43C>T (n.465+43C>T) | gnomAD v4 |
1 | g.153819563G>C | CA2574060245 | GATAD2B | c.42+43C>G (n.42+43C>G) c.465+43C>G (n.465+43C>G) | gnomAD v4 |
1 | g.153819563G= | CA2480603180 | GATAD2B | c.42+43C= (n.42+43C=) c.465+43C= (n.465+43C=) | |
1 | g.153819563G>T | CA526369906 | GATAD2B | c.42+43C>A (n.42+43C>A) c.465+43C>A (n.465+43C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153819565_153819568del | CA342534837 | GATAD2B | c.42+40_42+43del (n.42+40_42+43del) c.465+40_465+43del (n.465+40_465+43del) | |
1 | g.153819564A>G | CA2648092269 | GATAD2B | c.42+42T>C (n.42+42T>C) c.465+42T>C (n.465+42T>C) | gnomAD v4 |
1 | g.153819564A>T | CA2648092270 | GATAD2B | c.42+42T>A (n.42+42T>A) c.465+42T>A (n.465+42T>A) | gnomAD v4 |
1 | g.153819565del | CA2648092268 | GATAD2B | c.42+42del (n.42+42del) c.465+42del (n.465+42del) | gnomAD v4 |
1 | g.153819565A>C | CA2648092271 | GATAD2B | c.42+41T>G (n.42+41T>G) c.465+41T>G (n.465+41T>G) | gnomAD v4 |
1 | g.153819565A>G | CA2648092272 | GATAD2B | c.42+41T>C (n.42+41T>C) c.465+41T>C (n.465+41T>C) | gnomAD v4 |
1 | g.153819566G>A | CA2648092273 | GATAD2B | c.42+40C>T (n.42+40C>T) c.465+40C>T (n.465+40C>T) | gnomAD v4 |
1 | g.153819566G>T | CA2648092274 | GATAD2B | c.42+40C>A (n.42+40C>A) c.465+40C>A (n.465+40C>A) | gnomAD v4 |
1 | g.153819567G>A | CA2648092275 | GATAD2B | c.42+39C>T (n.42+39C>T) c.465+39C>T (n.465+39C>T) | gnomAD v4 |
1 | g.153819567G>C | CA2648092276 | GATAD2B | c.42+39C>G (n.42+39C>G) c.465+39C>G (n.465+39C>G) | gnomAD v4 |
1 | g.153819567G>T | CA2648092277 | GATAD2B | c.42+39C>A (n.42+39C>A) c.465+39C>A (n.465+39C>A) | gnomAD v4 |
1 | g.153819568A>G | CA2648092278 | GATAD2B | c.42+38T>C (n.42+38T>C) c.465+38T>C (n.465+38T>C) | gnomAD v4 |
1 | g.153819569G>A | CA1120855 | GATAD2B | c.42+37C>T (n.42+37C>T) c.465+37C>T (n.465+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153819569G= | CA2480603181 | GATAD2B | c.42+37C= (n.42+37C=) c.465+37C= (n.465+37C=) | |
1 | g.153819569G>T | CA2648092279 | GATAD2B | c.42+37C>A (n.42+37C>A) c.465+37C>A (n.465+37C>A) | gnomAD v4 |
1 | g.153819570C>A | CA2648092280 | GATAD2B | c.42+36G>T (n.42+36G>T) c.465+36G>T (n.465+36G>T) | gnomAD v4 |
1 | g.153819570C>T | CA2574060246 | GATAD2B | c.42+36G>A (n.42+36G>A) c.465+36G>A (n.465+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819571A= | CA2480603182 | GATAD2B | c.42+35T= (n.42+35T=) c.465+35T= (n.465+35T=) | |
1 | g.153819571A>G | CA1120856 | GATAD2B | c.42+35T>C (n.42+35T>C) c.465+35T>C (n.465+35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819572T>C | CA889542981 | GATAD2B | c.42+34A>G (n.42+34A>G) c.465+34A>G (n.465+34A>G) | dbSNP gnomAD v4 |
1 | g.153819572T= | CA2480603183 | GATAD2B | c.42+34A= (n.42+34A=) c.465+34A= (n.465+34A=) | |
1 | g.153819573A= | CA1141343591 | GATAD2B | c.42+33T= (n.42+33T=) c.465+33T= (n.465+33T=) | |
1 | g.153819573A>C | CA1120857 | GATAD2B | c.42+33T>G (n.42+33T>G) c.465+33T>G (n.465+33T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819573A>G | CA30710838 | GATAD2B | c.42+33T>C (n.42+33T>C) c.465+33T>C (n.465+33T>C) | dbSNP gnomAD v4 |
1 | g.153819574del | CA2648092281 | GATAD2B | c.42+33del (n.42+33del) c.465+33del (n.465+33del) | gnomAD v4 |
1 | g.153819574_153819584del | CA2574060247 | GATAD2B | c.42+23_42+33del (n.42+23_42+33del) c.465+23_465+33del (n.465+23_465+33del) | |
1 | g.153819575C>A | CA2648092282 | GATAD2B | c.42+31G>T (n.42+31G>T) c.465+31G>T (n.465+31G>T) | gnomAD v4 |
1 | g.153819575C= | CA2480603185 | GATAD2B | c.42+31G= (n.42+31G=) c.465+31G= (n.465+31G=) | |
1 | g.153819575C>G | CA2480603186 | GATAD2B | c.42+31G>C (n.42+31G>C) c.465+31G>C (n.465+31G>C) | dbSNP gnomAD v4 |
1 | g.153819575C>T | CA526369908 | GATAD2B | c.42+31G>A (n.42+31G>A) c.465+31G>A (n.465+31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819575_153819578delinsCAAG | CA2480603184 | GATAD2B | c.42+28_42+31delinsCTTG (n.42+28_42+31delinsCTTG) c.465+28_465+31delinsCTTG (n.465+28_465+31delinsCTTG) | |
1 | g.153819576A>G | CA2648092283 | GATAD2B | c.42+30T>C (n.42+30T>C) c.465+30T>C (n.465+30T>C) | gnomAD v4 |
1 | g.153819576_153819583delinsAAGAAGAA | CA1145075521 | GATAD2B | c.42+23_42+30delinsTTCTTCTT (n.42+23_42+30delinsTTCTTCTT) c.465+23_465+30delinsTTCTTCTT (n.465+23_465+30delinsTTCTTCTT) | |
1 | g.153819581_153819583del | CA1120858 | GATAD2B | c.42+28_42+30del (n.42+28_42+30del) c.465+28_465+30del (n.465+28_465+30del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819577A= | CA2480603187 | GATAD2B | c.42+29T= (n.42+29T=) c.465+29T= (n.465+29T=) | |
1 | g.153819577A>G | CA30710857 | GATAD2B | c.42+29T>C (n.42+29T>C) c.465+29T>C (n.465+29T>C) | dbSNP gnomAD v4 |
1 | g.153819578G>A | CA2574060248 | GATAD2B | c.42+28C>T (n.42+28C>T) c.465+28C>T (n.465+28C>T) | gnomAD v4 |
1 | g.153819578G>C | CA2480603189 | GATAD2B | c.42+28C>G (n.42+28C>G) c.465+28C>G (n.465+28C>G) | dbSNP gnomAD v4 |
1 | g.153819578G= | CA2480603188 | GATAD2B | c.42+28C= (n.42+28C=) c.465+28C= (n.465+28C=) | |
1 | g.153819578G>T | CA2648092284 | GATAD2B | c.42+28C>A (n.42+28C>A) c.465+28C>A (n.465+28C>A) | gnomAD v4 |
1 | g.153819578_153819582delinsGAAGA | CA2480603190 | GATAD2B | c.42+24_42+28delinsTCTTC (n.42+24_42+28delinsTCTTC) c.465+24_465+28delinsTCTTC (n.465+24_465+28delinsTCTTC) | |
1 | g.153819579A>G | CA2648092285 | GATAD2B | c.42+27T>C (n.42+27T>C) c.465+27T>C (n.465+27T>C) | gnomAD v4 |
1 | g.153819585_153819588del | CA1120859 | GATAD2B | c.42+24_42+27del (n.42+24_42+27del) c.465+24_465+27del (n.465+24_465+27del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153819580A= | CA2480603191 | GATAD2B | c.42+26T= (n.42+26T=) c.465+26T= (n.465+26T=) | |
1 | g.153819580A>C | CA889542989 | GATAD2B | c.42+26T>G (n.42+26T>G) c.465+26T>G (n.465+26T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819580A>G | CA2648092286 | GATAD2B | c.42+26T>C (n.42+26T>C) c.465+26T>C (n.465+26T>C) | gnomAD v4 |
1 | g.153819581G>A | CA1120860 | GATAD2B | c.42+25C>T (n.42+25C>T) c.465+25C>T (n.465+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153819581G= | CA2480603192 | GATAD2B | c.42+25C= (n.42+25C=) c.465+25C= (n.465+25C=) | |
1 | g.153819581G>T | CA2648092287 | GATAD2B | c.42+25C>A (n.42+25C>A) c.465+25C>A (n.465+25C>A) | gnomAD v4 |
1 | g.153819582A= | CA2480603193 | GATAD2B | c.42+24T= (n.42+24T=) c.465+24T= (n.465+24T=) | |
1 | g.153819582A>G | CA2480603194 | GATAD2B | c.42+24T>C (n.42+24T>C) c.465+24T>C (n.465+24T>C) | dbSNP gnomAD v4 |
1 | g.153819583A= | CA2480603195 | GATAD2B | c.42+23T= (n.42+23T=) c.465+23T= (n.465+23T=) | |
1 | g.153819583A>C | CA1120861 | GATAD2B | c.42+23T>G (n.42+23T>G) c.465+23T>G (n.465+23T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819584A>G | CA2648092288 | GATAD2B | c.42+22T>C (n.42+22T>C) c.465+22T>C (n.465+22T>C) | gnomAD v4 |
1 | g.153819585G= | CA2480603196 | GATAD2B | c.42+21C= (n.42+21C=) c.465+21C= (n.465+21C=) | |
1 | g.153819585G>T | CA1120862 | GATAD2B | c.42+21C>A (n.42+21C>A) c.465+21C>A (n.465+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153819586A= | CA1144185727 | GATAD2B | c.42+20T= (n.42+20T=) c.465+20T= (n.465+20T=) | |
1 | g.153819586A>C | CA1120863 | GATAD2B | c.42+20T>G (n.42+20T>G) c.465+20T>G (n.465+20T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819586A>G | CA2648092289 | GATAD2B | c.42+20T>C (n.42+20T>C) c.465+20T>C (n.465+20T>C) | gnomAD v4 |
1 | g.153819587A= | CA2480603197 | GATAD2B | c.42+19T= (n.42+19T=) c.465+19T= (n.465+19T=) | |
1 | g.153819587A>G | CA526369922 | GATAD2B | c.42+19T>C (n.42+19T>C) c.465+19T>C (n.465+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153819587A>T | CA2574060249 | GATAD2B | c.42+19T>A (n.42+19T>A) c.465+19T>A (n.465+19T>A) | |
1 | g.153819589_153819620del | CA2739292041 | GATAD2B | c.30_42+19del c.453_465+19del | |
1 | g.153819588A>G | CA2648092290 | GATAD2B | c.42+18T>C (n.42+18T>C) c.465+18T>C (n.465+18T>C) | gnomAD v4 |
1 | g.153819589T>A | CA2574060250 | GATAD2B | c.42+17A>T (n.42+17A>T) c.465+17A>T (n.465+17A>T) | gnomAD v4 |
1 | g.153819589T>C | CA2648092291 | GATAD2B | c.42+17A>G (n.42+17A>G) c.465+17A>G (n.465+17A>G) | ClinVar gnomAD v4 |
1 | g.153819590T>A | CA2574060251 | GATAD2B | c.42+16A>T (n.42+16A>T) c.465+16A>T (n.465+16A>T) | gnomAD v4 |
1 | g.153819590_153819594delinsTTTTC | CA2480603198 | GATAD2B | c.42+12_42+16delinsGAAAA (n.42+12_42+16delinsGAAAA) c.465+12_465+16delinsGAAAA (n.465+12_465+16delinsGAAAA) | |
1 | g.153819591T>C | CA526369925 | GATAD2B | c.42+15A>G (n.42+15A>G) c.465+15A>G (n.465+15A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153819591T= | CA2480603199 | GATAD2B | c.42+15A= (n.42+15A=) c.465+15A= (n.465+15A=) | |
1 | g.153819598_153819601del | CA1120864 | GATAD2B | c.42+12_42+15del (n.42+12_42+15del) c.465+12_465+15del (n.465+12_465+15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.153819594_153819595del | CA2697365248 | GATAD2B | c.42+12_42+13del (n.42+12_42+13del) c.465+12_465+13del (n.465+12_465+13del) | dbSNP |
1 | g.153819594C>G | CA2648092292 | GATAD2B | c.42+12G>C (n.42+12G>C) c.465+12G>C (n.465+12G>C) | gnomAD v4 |
1 | g.153819594C>T | CA2648092293 | GATAD2B | c.42+12G>A (n.42+12G>A) c.465+12G>A (n.465+12G>A) | gnomAD v4 |
1 | g.153819594_153819596delinsCTT | CA2480603200 | GATAD2B | c.42+10_42+12delinsAAG (n.42+10_42+12delinsAAG) c.465+10_465+12delinsAAG (n.465+10_465+12delinsAAG) | |
1 | g.153819595T>C | CA2648092294 | GATAD2B | c.42+11A>G (n.42+11A>G) c.465+11A>G (n.465+11A>G) | ClinVar gnomAD v4 |
1 | g.153819596_153819597del | CA526369927 | GATAD2B | c.42+10_42+11del (n.42+10_42+11del) c.465+10_465+11del (n.465+10_465+11del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.153819596T>A | CA2580061080 | GATAD2B | c.42+10A>T (n.42+10A>T) c.465+10A>T (n.465+10A>T) | ClinVar |
1 | g.153819596T>C | CA2648092295 | GATAD2B | c.42+10A>G (n.42+10A>G) c.465+10A>G (n.465+10A>G) | gnomAD v4 |
1 | g.153819597T>C | CA2648092296 | GATAD2B | c.42+9A>G (n.42+9A>G) c.465+9A>G (n.465+9A>G) | gnomAD v4 |
1 | g.153819598C>T | CA2648092297 | GATAD2B | c.42+8G>A (n.42+8G>A) c.465+8G>A (n.465+8G>A) | gnomAD v4 |
1 | g.153819603del | CA2648092298 | GATAD2B | c.42+7del (n.42+7del) c.465+7del (n.465+7del) | gnomAD v4 |
1 | g.153819604A>C | CA342534849 | GATAD2B | c.42+2T>G (n.42+2T>G) c.465+2T>G (n.465+2T>G) | |
1 | g.153819604A>G | CA342534850 | GATAD2B | c.42+2T>C (n.42+2T>C) c.465+2T>C (n.465+2T>C) | |
1 | g.153819604A>T | CA342534852 | GATAD2B | c.42+2T>A (n.42+2T>A) c.465+2T>A (n.465+2T>A) | gnomAD v4 COSMIC |
1 | g.153819605C>A | CA342534853 | GATAD2B | c.42+1G>T (n.42+1G>T) c.465+1G>T (n.465+1G>T) | |
1 | g.153819605C>G | CA342534854 | GATAD2B | c.42+1G>C (n.42+1G>C) c.465+1G>C (n.465+1G>C) | |
1 | g.153819605C>T | CA342534855 | GATAD2B | c.42+1G>A (n.42+1G>A) c.465+1G>A (n.465+1G>A) | |
1 | g.153819606C>A | CA342534856 | GATAD2B | c.42G>T (p.Lys14Asn) c.465G>T (p.Lys155Asn) | gnomAD v4 |
1 | g.153819606C>G | CA342534857 | GATAD2B | c.42G>C (p.Lys14Asn) c.465G>C (p.Lys155Asn) | |
1 | g.153819606C>T | CA420836140 | GATAD2B | c.42G>A (p.Lys14=) c.465G>A (p.Lys155=) | |
1 | g.153819607T>A | CA342534859 | GATAD2B | c.41A>T (p.Lys14Met) c.464A>T (p.Lys155Met) | |
1 | g.153819607T>C | CA342534860 | GATAD2B | c.41A>G (p.Lys14Arg) c.464A>G (p.Lys155Arg) | gnomAD v4 |
1 | g.153819607T>G | CA342534861 | GATAD2B | c.41A>C (p.Lys14Thr) c.464A>C (p.Lys155Thr) | |
1 | g.153819608T>A | CA342534864 | GATAD2B | c.40A>T (p.Lys14Ter) c.463A>T (p.Lys155Ter) | |
1 | g.153819608T>C | CA342534862 | GATAD2B | c.40A>G (p.Lys14Glu) c.463A>G (p.Lys155Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819608T>G | CA342534863 | GATAD2B | c.40A>C (p.Lys14Gln) c.463A>C (p.Lys155Gln) | |
1 | g.153819608T= | CA2480603201 | GATAD2B | c.40A= (p.Lys14=) c.463A= (p.Lys155=) | |
1 | g.153819609A>C | CA342534865 | GATAD2B | c.39T>G (p.Phe13Leu) c.462T>G (p.Phe154Leu) | |
1 | g.153819609A>G | CA420836144 | GATAD2B | c.39T>C (p.Phe13=) c.462T>C (p.Phe154=) | gnomAD v4 |
1 | g.153819609A>T | CA342534866 | GATAD2B | c.39T>A (p.Phe13Leu) c.462T>A (p.Phe154Leu) | |
1 | g.153819610A>C | CA342534867 | GATAD2B | c.38T>G (p.Phe13Cys) c.461T>G (p.Phe154Cys) | |
1 | g.153819610A>G | CA342534868 | GATAD2B | c.38T>C (p.Phe13Ser) c.461T>C (p.Phe154Ser) | |
1 | g.153819610A>T | CA342534869 | GATAD2B | c.38T>A (p.Phe13Tyr) c.461T>A (p.Phe154Tyr) | |
1 | g.153819611A>C | CA342534871 | GATAD2B | c.37T>G (p.Phe13Val) c.460T>G (p.Phe154Val) | |
1 | g.153819611A>G | CA342534872 | GATAD2B | c.37T>C (p.Phe13Leu) c.460T>C (p.Phe154Leu) | gnomAD v4 |
1 | g.153819611A>T | CA342534873 | GATAD2B | c.37T>A (p.Phe13Ile) c.460T>A (p.Phe154Ile) | |
1 | g.153819612C>A | CA342534874 | GATAD2B | c.36G>T (p.Met12Ile) c.459G>T (p.Met153Ile) | gnomAD v4 |
1 | g.153819612C= | CA2480603202 | GATAD2B | c.36G= (p.Met12=) c.459G= (p.Met153=) | |
1 | g.153819612C>G | CA342534875 | GATAD2B | c.36G>C (p.Met12Ile) c.459G>C (p.Met153Ile) | dbSNP |
1 | g.153819612C>T | CA1120865 | GATAD2B | c.36G>A (p.Met12Ile) c.459G>A (p.Met153Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153819613A= | CA2480603203 | GATAD2B | c.35T= (p.Met12=) c.458T= (p.Met153=) | |
1 | g.153819613A>C | CA342534877 | GATAD2B | c.35T>G (p.Met12Arg) c.458T>G (p.Met153Arg) | |
1 | g.153819613A>G | CA30710932 | GATAD2B | c.35T>C (p.Met12Thr) c.458T>C (p.Met153Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.153819613A>T | CA342534876 | GATAD2B | c.35T>A (p.Met12Lys) c.458T>A (p.Met153Lys) | |
1 | g.153819614T>A | CA342534878 | GATAD2B | c.34A>T (p.Met12Leu) c.457A>T (p.Met153Leu) | |
1 | g.153819614T>C | CA1120866 | GATAD2B | c.34A>G (p.Met12Val) c.457A>G (p.Met153Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.153819614T>G | CA342534879 | GATAD2B | c.34A>C (p.Met12Leu) c.457A>C (p.Met153Leu) | |
1 | g.153819614T= | CA2480603204 | GATAD2B | c.34A= (p.Met12=) c.457A= (p.Met153=) | |
1 | g.153819615C>A | CA342534880 | GATAD2B | c.33G>T (p.Glu11Asp) c.456G>T (p.Glu152Asp) | |
1 | g.153819615C>G | CA342534881 | GATAD2B | c.33G>C (p.Glu11Asp) c.456G>C (p.Glu152Asp) | |
1 | g.153819615C>T | CA420836150 | GATAD2B | c.33G>A (p.Glu11=) c.456G>A (p.Glu152=) | gnomAD v4 |
1 | g.153819616T>A | CA342534882 | GATAD2B | c.32A>T (p.Glu11Val) c.455A>T (p.Glu152Val) | |
1 | g.153819616T>C | CA342534883 | GATAD2B | c.32A>G (p.Glu11Gly) c.455A>G (p.Glu152Gly) | gnomAD v4 |
1 | g.153819616T>G | CA342534884 | GATAD2B | c.32A>C (p.Glu11Ala) c.455A>C (p.Glu152Ala) | |
1 | g.153819617C>A | CA342534885 | GATAD2B | c.31G>T (p.Glu11Ter) c.454G>T (p.Glu152Ter) | |
1 | g.153819617C= | CA1141315029 | GATAD2B | c.31G= (p.Glu11=) c.454G= (p.Glu152=) | |
1 | g.153819617C>G | CA342534887 | GATAD2B | c.31G>C (p.Glu11Gln) c.454G>C (p.Glu152Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.153819617C>T | CA30710944 | GATAD2B | c.31G>A (p.Glu11Lys) c.454G>A (p.Glu152Lys) | dbSNP |
1 | g.153819618T>A | CA342534888 | GATAD2B | c.30A>T (p.Leu10Phe) c.453A>T (p.Leu151Phe) | |
1 | g.153819618T>C | CA420836154 | GATAD2B | c.30A>G (p.Leu10=) c.453A>G (p.Leu151=) | |
1 | g.153819618T>G | CA342534889 | GATAD2B | c.30A>C (p.Leu10Phe) c.453A>C (p.Leu151Phe) | gnomAD v4 |
1 | g.153819618dup | CA2580061081 | GATAD2B | c.30dup (p.Glu11ArgfsTer4) c.453dup (p.Glu152ArgfsTer4) | ClinVar |
1 | g.153819619A>C | CA342534892 | GATAD2B | c.29T>G (p.Leu10Ter) c.452T>G (p.Leu151Ter) | |
1 | g.153819619A>G | CA342534891 | GATAD2B | c.29T>C (p.Leu10Ser) c.452T>C (p.Leu151Ser) | |
1 | g.153819619A>T | CA342534890 | GATAD2B | c.29T>A (p.Leu10Ter) c.452T>A (p.Leu151Ter) | |
1 | g.153819620del | CA2648092299 | GATAD2B | c.29del (p.Leu10Ter) c.452del (p.Leu151Ter) | gnomAD v4 |
1 | g.153819620A>C | CA342534893 | GATAD2B | c.28T>G (p.Leu10Val) c.451T>G (p.Leu151Val) | |
1 | g.153819620A>G | CA420836156 | GATAD2B | c.28T>C (p.Leu10=) c.451T>C (p.Leu151=) | |
1 | g.153819620A>T | CA342534895 | GATAD2B | c.28T>A (p.Leu10Ile) c.451T>A (p.Leu151Ile) | gnomAD v4 |
1 | g.153819621G>A | CA420836159 | GATAD2B | c.27C>T (p.Asn9=) c.450C>T (p.Asn150=) | ClinVar |
1 | g.153819621G>C | CA342534896 | GATAD2B | c.27C>G (p.Asn9Lys) c.450C>G (p.Asn150Lys) | |
1 | g.153819621G>T | CA342534898 | GATAD2B | c.27C>A (p.Asn9Lys) c.450C>A (p.Asn150Lys) | |
1 | g.153819622T>A | CA342534899 | GATAD2B | c.26A>T (p.Asn9Ile) c.449A>T (p.Asn150Ile) | |
1 | g.153819622T>C | CA342534900 | GATAD2B | c.26A>G (p.Asn9Ser) c.449A>G (p.Asn150Ser) | |
1 | g.153819622T>G | CA342534901 | GATAD2B | c.26A>C (p.Asn9Thr) c.449A>C (p.Asn150Thr) | |
1 | g.153819623T>A | CA342534902 | GATAD2B | c.25A>T (p.Asn9Tyr) c.448A>T (p.Asn150Tyr) | |
1 | g.153819623T>C | CA342534903 | GATAD2B | c.25A>G (p.Asn9Asp) c.448A>G (p.Asn150Asp) | |
1 | g.153819623T>G | CA342534906 | GATAD2B | c.25A>C (p.Asn9His) c.448A>C (p.Asn150His) | |
1 | g.153819624G>A | CA420836161 | GATAD2B | c.24C>T (p.Ala8=) c.447C>T (p.Ala149=) | |
1 | g.153819624G>C | CA420836162 | GATAD2B | c.24C>G (p.Ala8=) c.447C>G (p.Ala149=) | |
1 | g.153819624G>T | CA420836163 | GATAD2B | c.24C>A (p.Ala8=) c.447C>A (p.Ala149=) | |
1 | g.153819625G>A | CA342534908 | GATAD2B | c.23C>T (p.Ala8Val) c.446C>T (p.Ala149Val) | gnomAD v4 |
1 | g.153819625G>C | CA342534910 | GATAD2B | c.23C>G (p.Ala8Gly) c.446C>G (p.Ala149Gly) | |
1 | g.153819625G>T | CA342534913 | GATAD2B | c.23C>A (p.Ala8Asp) c.446C>A (p.Ala149Asp) | |
1 | g.153819626C>A | CA342534917 | GATAD2B | c.22G>T (p.Ala8Ser) c.445G>T (p.Ala149Ser) | |
1 | g.153819626C>G | CA342534920 | GATAD2B | c.22G>C (p.Ala8Pro) c.445G>C (p.Ala149Pro) | |
1 | g.153819626C>T | CA342534916 | GATAD2B | c.22G>A (p.Ala8Thr) c.445G>A (p.Ala149Thr) | gnomAD v4 |
1 | g.153819627T>A | CA420836164 | GATAD2B | c.21A>T (p.Ala7=) c.444A>T (p.Ala148=) | |
1 | g.153819627T>C | CA420836165 | GATAD2B | c.21A>G (p.Ala7=) c.444A>G (p.Ala148=) | |
1 | g.153819627T>G | CA420836166 | GATAD2B | c.21A>C (p.Ala7=) c.444A>C (p.Ala148=) | |
1 | g.153819628G>A | CA342534926 | GATAD2B | c.20C>T (p.Ala7Val) c.443C>T (p.Ala148Val) | |
1 | g.153819628G>C | CA342534922 | GATAD2B | c.20C>G (p.Ala7Gly) c.443C>G (p.Ala148Gly) | |
1 | g.153819628G>T | CA342534924 | GATAD2B | c.20C>A (p.Ala7Glu) c.443C>A (p.Ala148Glu) |