Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.66455373dup | CA6674402 | GRIP1 | c.1423+41dup (n.1423+41dup) c.1354+41dup (n.1354+41dup) c.1198+41dup (n.1198+41dup) c.460+41dup c.874+7556dup (n.874+7556dup) c.798+41dup c.1030+41dup (n.1030+41dup) c.337+60251dup (n.337+60251dup) c.656+41dup c.1357+41dup (n.1357+41dup) c.1276+41dup (n.1276+41dup) c.1579+41dup (n.1579+41dup) c.1186+41dup (n.1186+41dup) c.1273+41dup (n.1273+41dup) c.1432+41dup (n.1432+41dup) c.1201+41dup (n.1201+41dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455373_66455374delinsTC | CA2043057153 | GRIP1 | c.1423+35_1423+36delinsGA (n.1423+35_1423+36delinsGA) c.1354+35_1354+36delinsGA (n.1354+35_1354+36delinsGA) c.1198+35_1198+36delinsGA (n.1198+35_1198+36delinsGA) c.460+35_460+36delinsGA c.874+7550_874+7551delinsGA (n.874+7550_874+7551delinsGA) c.798+35_798+36delinsGA c.1030+35_1030+36delinsGA (n.1030+35_1030+36delinsGA) c.337+60245_337+60246delinsGA (n.337+60245_337+60246delinsGA) c.656+35_656+36delinsGA c.1357+35_1357+36delinsGA (n.1357+35_1357+36delinsGA) c.1276+35_1276+36delinsGA (n.1276+35_1276+36delinsGA) c.1579+35_1579+36delinsGA (n.1579+35_1579+36delinsGA) c.1186+35_1186+36delinsGA (n.1186+35_1186+36delinsGA) c.1273+35_1273+36delinsGA (n.1273+35_1273+36delinsGA) c.1432+35_1432+36delinsGA (n.1432+35_1432+36delinsGA) c.1201+35_1201+36delinsGA (n.1201+35_1201+36delinsGA) | |
12 | g.66455375del | CA605708977 | GRIP1 | c.1423+35del (n.1423+35del) c.1354+35del (n.1354+35del) c.1198+35del (n.1198+35del) c.460+35del c.874+7550del (n.874+7550del) c.798+35del c.1030+35del (n.1030+35del) c.337+60245del (n.337+60245del) c.656+35del c.1357+35del (n.1357+35del) c.1276+35del (n.1276+35del) c.1579+35del (n.1579+35del) c.1186+35del (n.1186+35del) c.1273+35del (n.1273+35del) c.1432+35del (n.1432+35del) c.1201+35del (n.1201+35del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455375C>A | CA2796360884 | GRIP1 | c.1423+34G>T (n.1423+34G>T) c.1354+34G>T (n.1354+34G>T) c.1198+34G>T (n.1198+34G>T) c.460+34G>T c.874+7549G>T (n.874+7549G>T) c.798+34G>T c.1030+34G>T (n.1030+34G>T) c.337+60244G>T (n.337+60244G>T) c.656+34G>T c.1357+34G>T (n.1357+34G>T) c.1276+34G>T (n.1276+34G>T) c.1579+34G>T (n.1579+34G>T) c.1186+34G>T (n.1186+34G>T) c.1273+34G>T (n.1273+34G>T) c.1432+34G>T (n.1432+34G>T) c.1201+34G>T (n.1201+34G>T) | |
12 | g.66455376A>C | CA2619716060 | GRIP1 | c.1423+33T>G (n.1423+33T>G) c.1354+33T>G (n.1354+33T>G) c.1198+33T>G (n.1198+33T>G) c.460+33T>G c.874+7548T>G (n.874+7548T>G) c.798+33T>G c.1030+33T>G (n.1030+33T>G) c.337+60243T>G (n.337+60243T>G) c.656+33T>G c.1357+33T>G (n.1357+33T>G) c.1276+33T>G (n.1276+33T>G) c.1579+33T>G (n.1579+33T>G) c.1186+33T>G (n.1186+33T>G) c.1273+33T>G (n.1273+33T>G) c.1432+33T>G (n.1432+33T>G) c.1201+33T>G (n.1201+33T>G) | gnomAD v4 |
12 | g.66455376A>G | CA2619716061 | GRIP1 | c.1423+33T>C (n.1423+33T>C) c.1354+33T>C (n.1354+33T>C) c.1198+33T>C (n.1198+33T>C) c.460+33T>C c.874+7548T>C (n.874+7548T>C) c.798+33T>C c.1030+33T>C (n.1030+33T>C) c.337+60243T>C (n.337+60243T>C) c.656+33T>C c.1357+33T>C (n.1357+33T>C) c.1276+33T>C (n.1276+33T>C) c.1579+33T>C (n.1579+33T>C) c.1186+33T>C (n.1186+33T>C) c.1273+33T>C (n.1273+33T>C) c.1432+33T>C (n.1432+33T>C) c.1201+33T>C (n.1201+33T>C) | gnomAD v4 |
12 | g.66455377G>A | CA2619716063 | GRIP1 | c.1423+32C>T (n.1423+32C>T) c.1354+32C>T (n.1354+32C>T) c.1198+32C>T (n.1198+32C>T) c.460+32C>T c.874+7547C>T (n.874+7547C>T) c.798+32C>T c.1030+32C>T (n.1030+32C>T) c.337+60242C>T (n.337+60242C>T) c.656+32C>T c.1357+32C>T (n.1357+32C>T) c.1276+32C>T (n.1276+32C>T) c.1579+32C>T (n.1579+32C>T) c.1186+32C>T (n.1186+32C>T) c.1273+32C>T (n.1273+32C>T) c.1432+32C>T (n.1432+32C>T) c.1201+32C>T (n.1201+32C>T) | gnomAD v4 |
12 | g.66455377G>C | CA6674403 | GRIP1 | c.1423+32C>G (n.1423+32C>G) c.1354+32C>G (n.1354+32C>G) c.1198+32C>G (n.1198+32C>G) c.460+32C>G c.874+7547C>G (n.874+7547C>G) c.798+32C>G c.1030+32C>G (n.1030+32C>G) c.337+60242C>G (n.337+60242C>G) c.656+32C>G c.1357+32C>G (n.1357+32C>G) c.1276+32C>G (n.1276+32C>G) c.1579+32C>G (n.1579+32C>G) c.1186+32C>G (n.1186+32C>G) c.1273+32C>G (n.1273+32C>G) c.1432+32C>G (n.1432+32C>G) c.1201+32C>G (n.1201+32C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455377G= | CA2043057154 | GRIP1 | c.1423+32C= (n.1423+32C=) c.1354+32C= (n.1354+32C=) c.1198+32C= (n.1198+32C=) c.460+32C= c.874+7547C= (n.874+7547C=) c.798+32C= c.1030+32C= (n.1030+32C=) c.337+60242C= (n.337+60242C=) c.656+32C= c.1357+32C= (n.1357+32C=) c.1276+32C= (n.1276+32C=) c.1579+32C= (n.1579+32C=) c.1186+32C= (n.1186+32C=) c.1273+32C= (n.1273+32C=) c.1432+32C= (n.1432+32C=) c.1201+32C= (n.1201+32C=) | |
12 | g.66455380_66455393del | CA2619716062 | GRIP1 | c.1423+19_1423+32del (n.1423+19_1423+32del) c.1354+19_1354+32del (n.1354+19_1354+32del) c.1198+19_1198+32del (n.1198+19_1198+32del) c.460+19_460+32del c.874+7534_874+7547del (n.874+7534_874+7547del) c.798+19_798+32del c.1030+19_1030+32del (n.1030+19_1030+32del) c.337+60229_337+60242del (n.337+60229_337+60242del) c.656+19_656+32del c.1357+19_1357+32del (n.1357+19_1357+32del) c.1276+19_1276+32del (n.1276+19_1276+32del) c.1579+19_1579+32del (n.1579+19_1579+32del) c.1186+19_1186+32del (n.1186+19_1186+32del) c.1273+19_1273+32del (n.1273+19_1273+32del) c.1432+19_1432+32del (n.1432+19_1432+32del) c.1201+19_1201+32del (n.1201+19_1201+32del) | gnomAD v4 |
12 | g.66455378G>A | CA605708979 | GRIP1 | c.1423+31C>T (n.1423+31C>T) c.1354+31C>T (n.1354+31C>T) c.1198+31C>T (n.1198+31C>T) c.460+31C>T c.874+7546C>T (n.874+7546C>T) c.798+31C>T c.1030+31C>T (n.1030+31C>T) c.337+60241C>T (n.337+60241C>T) c.656+31C>T c.1357+31C>T (n.1357+31C>T) c.1276+31C>T (n.1276+31C>T) c.1579+31C>T (n.1579+31C>T) c.1186+31C>T (n.1186+31C>T) c.1273+31C>T (n.1273+31C>T) c.1432+31C>T (n.1432+31C>T) c.1201+31C>T (n.1201+31C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455378G>C | CA2619716064 | GRIP1 | c.1423+31C>G (n.1423+31C>G) c.1354+31C>G (n.1354+31C>G) c.1198+31C>G (n.1198+31C>G) c.460+31C>G c.874+7546C>G (n.874+7546C>G) c.798+31C>G c.1030+31C>G (n.1030+31C>G) c.337+60241C>G (n.337+60241C>G) c.656+31C>G c.1357+31C>G (n.1357+31C>G) c.1276+31C>G (n.1276+31C>G) c.1579+31C>G (n.1579+31C>G) c.1186+31C>G (n.1186+31C>G) c.1273+31C>G (n.1273+31C>G) c.1432+31C>G (n.1432+31C>G) c.1201+31C>G (n.1201+31C>G) | gnomAD v4 |
12 | g.66455378G= | CA2043057155 | GRIP1 | c.1423+31C= (n.1423+31C=) c.1354+31C= (n.1354+31C=) c.1198+31C= (n.1198+31C=) c.460+31C= c.874+7546C= (n.874+7546C=) c.798+31C= c.1030+31C= (n.1030+31C=) c.337+60241C= (n.337+60241C=) c.656+31C= c.1357+31C= (n.1357+31C=) c.1276+31C= (n.1276+31C=) c.1579+31C= (n.1579+31C=) c.1186+31C= (n.1186+31C=) c.1273+31C= (n.1273+31C=) c.1432+31C= (n.1432+31C=) c.1201+31C= (n.1201+31C=) | |
12 | g.66455382A= | CA2043057156 | GRIP1 | c.1423+27T= (n.1423+27T=) c.1354+27T= (n.1354+27T=) c.1198+27T= (n.1198+27T=) c.460+27T= c.874+7542T= (n.874+7542T=) c.798+27T= c.1030+27T= (n.1030+27T=) c.337+60237T= (n.337+60237T=) c.656+27T= c.1357+27T= (n.1357+27T=) c.1276+27T= (n.1276+27T=) c.1579+27T= (n.1579+27T=) c.1186+27T= (n.1186+27T=) c.1273+27T= (n.1273+27T=) c.1432+27T= (n.1432+27T=) c.1201+27T= (n.1201+27T=) | |
12 | g.66455382A>G | CA6674404 | GRIP1 | c.1423+27T>C (n.1423+27T>C) c.1354+27T>C (n.1354+27T>C) c.1198+27T>C (n.1198+27T>C) c.460+27T>C c.874+7542T>C (n.874+7542T>C) c.798+27T>C c.1030+27T>C (n.1030+27T>C) c.337+60237T>C (n.337+60237T>C) c.656+27T>C c.1357+27T>C (n.1357+27T>C) c.1276+27T>C (n.1276+27T>C) c.1579+27T>C (n.1579+27T>C) c.1186+27T>C (n.1186+27T>C) c.1273+27T>C (n.1273+27T>C) c.1432+27T>C (n.1432+27T>C) c.1201+27T>C (n.1201+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.66455384T>C | CA691085205 | GRIP1 | c.1423+25A>G (n.1423+25A>G) c.1354+25A>G (n.1354+25A>G) c.1198+25A>G (n.1198+25A>G) c.460+25A>G c.874+7540A>G (n.874+7540A>G) c.798+25A>G c.1030+25A>G (n.1030+25A>G) c.337+60235A>G (n.337+60235A>G) c.656+25A>G c.1357+25A>G (n.1357+25A>G) c.1276+25A>G (n.1276+25A>G) c.1579+25A>G (n.1579+25A>G) c.1186+25A>G (n.1186+25A>G) c.1273+25A>G (n.1273+25A>G) c.1432+25A>G (n.1432+25A>G) c.1201+25A>G (n.1201+25A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.66455384T= | CA2043057157 | GRIP1 | c.1423+25A= (n.1423+25A=) c.1354+25A= (n.1354+25A=) c.1198+25A= (n.1198+25A=) c.460+25A= c.874+7540A= (n.874+7540A=) c.798+25A= c.1030+25A= (n.1030+25A=) c.337+60235A= (n.337+60235A=) c.656+25A= c.1357+25A= (n.1357+25A=) c.1276+25A= (n.1276+25A=) c.1579+25A= (n.1579+25A=) c.1186+25A= (n.1186+25A=) c.1273+25A= (n.1273+25A=) c.1432+25A= (n.1432+25A=) c.1201+25A= (n.1201+25A=) | |
12 | g.66455385G>A | CA2619716066 | GRIP1 | c.1423+24C>T (n.1423+24C>T) c.1354+24C>T (n.1354+24C>T) c.1198+24C>T (n.1198+24C>T) c.460+24C>T c.874+7539C>T (n.874+7539C>T) c.798+24C>T c.1030+24C>T (n.1030+24C>T) c.337+60234C>T (n.337+60234C>T) c.656+24C>T c.1357+24C>T (n.1357+24C>T) c.1276+24C>T (n.1276+24C>T) c.1579+24C>T (n.1579+24C>T) c.1186+24C>T (n.1186+24C>T) c.1273+24C>T (n.1273+24C>T) c.1432+24C>T (n.1432+24C>T) c.1201+24C>T (n.1201+24C>T) | gnomAD v4 |
12 | g.66455387_66455393del | CA2619716065 | GRIP1 | c.1423+18_1423+24del (n.1423+18_1423+24del) c.1354+18_1354+24del (n.1354+18_1354+24del) c.1198+18_1198+24del (n.1198+18_1198+24del) c.460+18_460+24del c.874+7533_874+7539del (n.874+7533_874+7539del) c.798+18_798+24del c.1030+18_1030+24del (n.1030+18_1030+24del) c.337+60228_337+60234del (n.337+60228_337+60234del) c.656+18_656+24del c.1357+18_1357+24del (n.1357+18_1357+24del) c.1276+18_1276+24del (n.1276+18_1276+24del) c.1579+18_1579+24del (n.1579+18_1579+24del) c.1186+18_1186+24del (n.1186+18_1186+24del) c.1273+18_1273+24del (n.1273+18_1273+24del) c.1432+18_1432+24del (n.1432+18_1432+24del) c.1201+18_1201+24del (n.1201+18_1201+24del) | gnomAD v4 |
12 | g.66455386C>A | CA238353604 | GRIP1 | c.1423+23G>T (n.1423+23G>T) c.1354+23G>T (n.1354+23G>T) c.1198+23G>T (n.1198+23G>T) c.460+23G>T c.874+7538G>T (n.874+7538G>T) c.798+23G>T c.1030+23G>T (n.1030+23G>T) c.337+60233G>T (n.337+60233G>T) c.656+23G>T c.1357+23G>T (n.1357+23G>T) c.1276+23G>T (n.1276+23G>T) c.1579+23G>T (n.1579+23G>T) c.1186+23G>T (n.1186+23G>T) c.1273+23G>T (n.1273+23G>T) c.1432+23G>T (n.1432+23G>T) c.1201+23G>T (n.1201+23G>T) | dbSNP gnomAD v4 |
12 | g.66455386C= | CA2043057158 | GRIP1 | c.1423+23G= (n.1423+23G=) c.1354+23G= (n.1354+23G=) c.1198+23G= (n.1198+23G=) c.460+23G= c.874+7538G= (n.874+7538G=) c.798+23G= c.1030+23G= (n.1030+23G=) c.337+60233G= (n.337+60233G=) c.656+23G= c.1357+23G= (n.1357+23G=) c.1276+23G= (n.1276+23G=) c.1579+23G= (n.1579+23G=) c.1186+23G= (n.1186+23G=) c.1273+23G= (n.1273+23G=) c.1432+23G= (n.1432+23G=) c.1201+23G= (n.1201+23G=) | |
12 | g.66455387C>A | CA6674405 | GRIP1 | c.1423+22G>T (n.1423+22G>T) c.1354+22G>T (n.1354+22G>T) c.1198+22G>T (n.1198+22G>T) c.460+22G>T c.874+7537G>T (n.874+7537G>T) c.798+22G>T c.1030+22G>T (n.1030+22G>T) c.337+60232G>T (n.337+60232G>T) c.656+22G>T c.1357+22G>T (n.1357+22G>T) c.1276+22G>T (n.1276+22G>T) c.1579+22G>T (n.1579+22G>T) c.1186+22G>T (n.1186+22G>T) c.1273+22G>T (n.1273+22G>T) c.1432+22G>T (n.1432+22G>T) c.1201+22G>T (n.1201+22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455387C= | CA2043057159 | GRIP1 | c.1423+22G= (n.1423+22G=) c.1354+22G= (n.1354+22G=) c.1198+22G= (n.1198+22G=) c.460+22G= c.874+7537G= (n.874+7537G=) c.798+22G= c.1030+22G= (n.1030+22G=) c.337+60232G= (n.337+60232G=) c.656+22G= c.1357+22G= (n.1357+22G=) c.1276+22G= (n.1276+22G=) c.1579+22G= (n.1579+22G=) c.1186+22G= (n.1186+22G=) c.1273+22G= (n.1273+22G=) c.1432+22G= (n.1432+22G=) c.1201+22G= (n.1201+22G=) | |
12 | g.66455388A= | CA2043057160 | GRIP1 | c.1423+21T= (n.1423+21T=) c.1354+21T= (n.1354+21T=) c.1198+21T= (n.1198+21T=) c.460+21T= c.874+7536T= (n.874+7536T=) c.798+21T= c.1030+21T= (n.1030+21T=) c.337+60231T= (n.337+60231T=) c.656+21T= c.1357+21T= (n.1357+21T=) c.1276+21T= (n.1276+21T=) c.1579+21T= (n.1579+21T=) c.1186+21T= (n.1186+21T=) c.1273+21T= (n.1273+21T=) c.1432+21T= (n.1432+21T=) c.1201+21T= (n.1201+21T=) | |
12 | g.66455388A>G | CA6674406 | GRIP1 | c.1423+21T>C (n.1423+21T>C) c.1354+21T>C (n.1354+21T>C) c.1198+21T>C (n.1198+21T>C) c.460+21T>C c.874+7536T>C (n.874+7536T>C) c.798+21T>C c.1030+21T>C (n.1030+21T>C) c.337+60231T>C (n.337+60231T>C) c.656+21T>C c.1357+21T>C (n.1357+21T>C) c.1276+21T>C (n.1276+21T>C) c.1579+21T>C (n.1579+21T>C) c.1186+21T>C (n.1186+21T>C) c.1273+21T>C (n.1273+21T>C) c.1432+21T>C (n.1432+21T>C) c.1201+21T>C (n.1201+21T>C) | dbSNP ExAC gnomAD v4 |
12 | g.66455388A>T | CA2796360885 | GRIP1 | c.1423+21T>A (n.1423+21T>A) c.1354+21T>A (n.1354+21T>A) c.1198+21T>A (n.1198+21T>A) c.460+21T>A c.874+7536T>A (n.874+7536T>A) c.798+21T>A c.1030+21T>A (n.1030+21T>A) c.337+60231T>A (n.337+60231T>A) c.656+21T>A c.1357+21T>A (n.1357+21T>A) c.1276+21T>A (n.1276+21T>A) c.1579+21T>A (n.1579+21T>A) c.1186+21T>A (n.1186+21T>A) c.1273+21T>A (n.1273+21T>A) c.1432+21T>A (n.1432+21T>A) c.1201+21T>A (n.1201+21T>A) | |
12 | g.66455389T>C | CA6674407 | GRIP1 | c.1423+20A>G (n.1423+20A>G) c.1354+20A>G (n.1354+20A>G) c.1198+20A>G (n.1198+20A>G) c.460+20A>G c.874+7535A>G (n.874+7535A>G) c.798+20A>G c.1030+20A>G (n.1030+20A>G) c.337+60230A>G (n.337+60230A>G) c.656+20A>G c.1357+20A>G (n.1357+20A>G) c.1276+20A>G (n.1276+20A>G) c.1579+20A>G (n.1579+20A>G) c.1186+20A>G (n.1186+20A>G) c.1273+20A>G (n.1273+20A>G) c.1432+20A>G (n.1432+20A>G) c.1201+20A>G (n.1201+20A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455389T= | CA2043057161 | GRIP1 | c.1423+20A= (n.1423+20A=) c.1354+20A= (n.1354+20A=) c.1198+20A= (n.1198+20A=) c.460+20A= c.874+7535A= (n.874+7535A=) c.798+20A= c.1030+20A= (n.1030+20A=) c.337+60230A= (n.337+60230A=) c.656+20A= c.1357+20A= (n.1357+20A=) c.1276+20A= (n.1276+20A=) c.1579+20A= (n.1579+20A=) c.1186+20A= (n.1186+20A=) c.1273+20A= (n.1273+20A=) c.1432+20A= (n.1432+20A=) c.1201+20A= (n.1201+20A=) | |
12 | g.66455390del | CA2697559365 | GRIP1 | c.1423+20del (n.1423+20del) c.1354+20del (n.1354+20del) c.1198+20del (n.1198+20del) c.460+20del c.874+7535del (n.874+7535del) c.798+20del c.1030+20del (n.1030+20del) c.337+60230del (n.337+60230del) c.656+20del c.1357+20del (n.1357+20del) c.1276+20del (n.1276+20del) c.1579+20del (n.1579+20del) c.1186+20del (n.1186+20del) c.1273+20del (n.1273+20del) c.1432+20del (n.1432+20del) c.1201+20del (n.1201+20del) | ClinVar |
12 | g.66455390T>C | CA6674408 | GRIP1 | c.1423+19A>G (n.1423+19A>G) c.1354+19A>G (n.1354+19A>G) c.1198+19A>G (n.1198+19A>G) c.460+19A>G c.874+7534A>G (n.874+7534A>G) c.798+19A>G c.1030+19A>G (n.1030+19A>G) c.337+60229A>G (n.337+60229A>G) c.656+19A>G c.1357+19A>G (n.1357+19A>G) c.1276+19A>G (n.1276+19A>G) c.1579+19A>G (n.1579+19A>G) c.1186+19A>G (n.1186+19A>G) c.1273+19A>G (n.1273+19A>G) c.1432+19A>G (n.1432+19A>G) c.1201+19A>G (n.1201+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455390T= | CA2043057162 | GRIP1 | c.1423+19A= (n.1423+19A=) c.1354+19A= (n.1354+19A=) c.1198+19A= (n.1198+19A=) c.460+19A= c.874+7534A= (n.874+7534A=) c.798+19A= c.1030+19A= (n.1030+19A=) c.337+60229A= (n.337+60229A=) c.656+19A= c.1357+19A= (n.1357+19A=) c.1276+19A= (n.1276+19A=) c.1579+19A= (n.1579+19A=) c.1186+19A= (n.1186+19A=) c.1273+19A= (n.1273+19A=) c.1432+19A= (n.1432+19A=) c.1201+19A= (n.1201+19A=) | |
12 | g.66455391G>A | CA605708981 | GRIP1 | c.1423+18C>T (n.1423+18C>T) c.1354+18C>T (n.1354+18C>T) c.1198+18C>T (n.1198+18C>T) c.460+18C>T c.874+7533C>T (n.874+7533C>T) c.798+18C>T c.1030+18C>T (n.1030+18C>T) c.337+60228C>T (n.337+60228C>T) c.656+18C>T c.1357+18C>T (n.1357+18C>T) c.1276+18C>T (n.1276+18C>T) c.1579+18C>T (n.1579+18C>T) c.1186+18C>T (n.1186+18C>T) c.1273+18C>T (n.1273+18C>T) c.1432+18C>T (n.1432+18C>T) c.1201+18C>T (n.1201+18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455391G= | CA2043057163 | GRIP1 | c.1423+18C= (n.1423+18C=) c.1354+18C= (n.1354+18C=) c.1198+18C= (n.1198+18C=) c.460+18C= c.874+7533C= (n.874+7533C=) c.798+18C= c.1030+18C= (n.1030+18C=) c.337+60228C= (n.337+60228C=) c.656+18C= c.1357+18C= (n.1357+18C=) c.1276+18C= (n.1276+18C=) c.1579+18C= (n.1579+18C=) c.1186+18C= (n.1186+18C=) c.1273+18C= (n.1273+18C=) c.1432+18C= (n.1432+18C=) c.1201+18C= (n.1201+18C=) | |
12 | g.66455392G>A | CA2619716067 | GRIP1 | c.1423+17C>T (n.1423+17C>T) c.1354+17C>T (n.1354+17C>T) c.1198+17C>T (n.1198+17C>T) c.460+17C>T c.874+7532C>T (n.874+7532C>T) c.798+17C>T c.1030+17C>T (n.1030+17C>T) c.337+60227C>T (n.337+60227C>T) c.656+17C>T c.1357+17C>T (n.1357+17C>T) c.1276+17C>T (n.1276+17C>T) c.1579+17C>T (n.1579+17C>T) c.1186+17C>T (n.1186+17C>T) c.1273+17C>T (n.1273+17C>T) c.1432+17C>T (n.1432+17C>T) c.1201+17C>T (n.1201+17C>T) | gnomAD v4 |
12 | g.66455392G>C | CA2575217717 | GRIP1 | c.1423+17C>G (n.1423+17C>G) c.1354+17C>G (n.1354+17C>G) c.1198+17C>G (n.1198+17C>G) c.460+17C>G c.874+7532C>G (n.874+7532C>G) c.798+17C>G c.1030+17C>G (n.1030+17C>G) c.337+60227C>G (n.337+60227C>G) c.656+17C>G c.1357+17C>G (n.1357+17C>G) c.1276+17C>G (n.1276+17C>G) c.1579+17C>G (n.1579+17C>G) c.1186+17C>G (n.1186+17C>G) c.1273+17C>G (n.1273+17C>G) c.1432+17C>G (n.1432+17C>G) c.1201+17C>G (n.1201+17C>G) | |
12 | g.66455395G>A | CA605708983 | GRIP1 | c.1423+14C>T (n.1423+14C>T) c.1354+14C>T (n.1354+14C>T) c.1198+14C>T (n.1198+14C>T) c.460+14C>T c.874+7529C>T (n.874+7529C>T) c.798+14C>T c.1030+14C>T (n.1030+14C>T) c.337+60224C>T (n.337+60224C>T) c.656+14C>T c.1357+14C>T (n.1357+14C>T) c.1276+14C>T (n.1276+14C>T) c.1579+14C>T (n.1579+14C>T) c.1186+14C>T (n.1186+14C>T) c.1273+14C>T (n.1273+14C>T) c.1432+14C>T (n.1432+14C>T) c.1201+14C>T (n.1201+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455395G= | CA2043057164 | GRIP1 | c.1423+14C= (n.1423+14C=) c.1354+14C= (n.1354+14C=) c.1198+14C= (n.1198+14C=) c.460+14C= c.874+7529C= (n.874+7529C=) c.798+14C= c.1030+14C= (n.1030+14C=) c.337+60224C= (n.337+60224C=) c.656+14C= c.1357+14C= (n.1357+14C=) c.1276+14C= (n.1276+14C=) c.1579+14C= (n.1579+14C=) c.1186+14C= (n.1186+14C=) c.1273+14C= (n.1273+14C=) c.1432+14C= (n.1432+14C=) c.1201+14C= (n.1201+14C=) | |
12 | g.66455396T>G | CA605708984 | GRIP1 | c.1423+13A>C (n.1423+13A>C) c.1354+13A>C (n.1354+13A>C) c.1198+13A>C (n.1198+13A>C) c.460+13A>C c.874+7528A>C (n.874+7528A>C) c.798+13A>C c.1030+13A>C (n.1030+13A>C) c.337+60223A>C (n.337+60223A>C) c.656+13A>C c.1357+13A>C (n.1357+13A>C) c.1276+13A>C (n.1276+13A>C) c.1579+13A>C (n.1579+13A>C) c.1186+13A>C (n.1186+13A>C) c.1273+13A>C (n.1273+13A>C) c.1432+13A>C (n.1432+13A>C) c.1201+13A>C (n.1201+13A>C) | dbSNP gnomAD v2 |
12 | g.66455396T= | CA2043057165 | GRIP1 | c.1423+13A= (n.1423+13A=) c.1354+13A= (n.1354+13A=) c.1198+13A= (n.1198+13A=) c.460+13A= c.874+7528A= (n.874+7528A=) c.798+13A= c.1030+13A= (n.1030+13A=) c.337+60223A= (n.337+60223A=) c.656+13A= c.1357+13A= (n.1357+13A=) c.1276+13A= (n.1276+13A=) c.1579+13A= (n.1579+13A=) c.1186+13A= (n.1186+13A=) c.1273+13A= (n.1273+13A=) c.1432+13A= (n.1432+13A=) c.1201+13A= (n.1201+13A=) | |
12 | g.66455397C>A | CA2619716068 | GRIP1 | c.1423+12G>T (n.1423+12G>T) c.1354+12G>T (n.1354+12G>T) c.1198+12G>T (n.1198+12G>T) c.460+12G>T c.874+7527G>T (n.874+7527G>T) c.798+12G>T c.1030+12G>T (n.1030+12G>T) c.337+60222G>T (n.337+60222G>T) c.656+12G>T c.1357+12G>T (n.1357+12G>T) c.1276+12G>T (n.1276+12G>T) c.1579+12G>T (n.1579+12G>T) c.1186+12G>T (n.1186+12G>T) c.1273+12G>T (n.1273+12G>T) c.1432+12G>T (n.1432+12G>T) c.1201+12G>T (n.1201+12G>T) | gnomAD v4 |
12 | g.66455397C>T | CA2619716069 | GRIP1 | c.1423+12G>A (n.1423+12G>A) c.1354+12G>A (n.1354+12G>A) c.1198+12G>A (n.1198+12G>A) c.460+12G>A c.874+7527G>A (n.874+7527G>A) c.798+12G>A c.1030+12G>A (n.1030+12G>A) c.337+60222G>A (n.337+60222G>A) c.656+12G>A c.1357+12G>A (n.1357+12G>A) c.1276+12G>A (n.1276+12G>A) c.1579+12G>A (n.1579+12G>A) c.1186+12G>A (n.1186+12G>A) c.1273+12G>A (n.1273+12G>A) c.1432+12G>A (n.1432+12G>A) c.1201+12G>A (n.1201+12G>A) | gnomAD v4 |
12 | g.66455398A= | CA2043057166 | GRIP1 | c.1423+11T= (n.1423+11T=) c.1354+11T= (n.1354+11T=) c.1198+11T= (n.1198+11T=) c.460+11T= c.874+7526T= (n.874+7526T=) c.798+11T= c.1030+11T= (n.1030+11T=) c.337+60221T= (n.337+60221T=) c.656+11T= c.1357+11T= (n.1357+11T=) c.1276+11T= (n.1276+11T=) c.1579+11T= (n.1579+11T=) c.1186+11T= (n.1186+11T=) c.1273+11T= (n.1273+11T=) c.1432+11T= (n.1432+11T=) c.1201+11T= (n.1201+11T=) | |
12 | g.66455398A>C | CA605708985 | GRIP1 | c.1423+11T>G (n.1423+11T>G) c.1354+11T>G (n.1354+11T>G) c.1198+11T>G (n.1198+11T>G) c.460+11T>G c.874+7526T>G (n.874+7526T>G) c.798+11T>G c.1030+11T>G (n.1030+11T>G) c.337+60221T>G (n.337+60221T>G) c.656+11T>G c.1357+11T>G (n.1357+11T>G) c.1276+11T>G (n.1276+11T>G) c.1579+11T>G (n.1579+11T>G) c.1186+11T>G (n.1186+11T>G) c.1273+11T>G (n.1273+11T>G) c.1432+11T>G (n.1432+11T>G) c.1201+11T>G (n.1201+11T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455398A>T | CA2043057167 | GRIP1 | c.1423+11T>A (n.1423+11T>A) c.1354+11T>A (n.1354+11T>A) c.1198+11T>A (n.1198+11T>A) c.460+11T>A c.874+7526T>A (n.874+7526T>A) c.798+11T>A c.1030+11T>A (n.1030+11T>A) c.337+60221T>A (n.337+60221T>A) c.656+11T>A c.1357+11T>A (n.1357+11T>A) c.1276+11T>A (n.1276+11T>A) c.1579+11T>A (n.1579+11T>A) c.1186+11T>A (n.1186+11T>A) c.1273+11T>A (n.1273+11T>A) c.1432+11T>A (n.1432+11T>A) c.1201+11T>A (n.1201+11T>A) | dbSNP |
12 | g.66455401T>G | CA2619716070 | GRIP1 | c.1423+8A>C (n.1423+8A>C) c.1354+8A>C (n.1354+8A>C) c.1198+8A>C (n.1198+8A>C) c.460+8A>C c.874+7523A>C (n.874+7523A>C) c.798+8A>C c.1030+8A>C (n.1030+8A>C) c.337+60218A>C (n.337+60218A>C) c.656+8A>C c.1357+8A>C (n.1357+8A>C) c.1276+8A>C (n.1276+8A>C) c.1579+8A>C (n.1579+8A>C) c.1186+8A>C (n.1186+8A>C) c.1273+8A>C (n.1273+8A>C) c.1432+8A>C (n.1432+8A>C) c.1201+8A>C (n.1201+8A>C) | gnomAD v4 |
12 | g.66455401_66455402delinsTC | CA2043057168 | GRIP1 | c.1423+7_1423+8delinsGA (n.1423+7_1423+8delinsGA) c.1354+7_1354+8delinsGA (n.1354+7_1354+8delinsGA) c.1198+7_1198+8delinsGA (n.1198+7_1198+8delinsGA) c.460+7_460+8delinsGA c.874+7522_874+7523delinsGA (n.874+7522_874+7523delinsGA) c.798+7_798+8delinsGA c.1030+7_1030+8delinsGA (n.1030+7_1030+8delinsGA) c.337+60217_337+60218delinsGA (n.337+60217_337+60218delinsGA) c.656+7_656+8delinsGA c.1357+7_1357+8delinsGA (n.1357+7_1357+8delinsGA) c.1276+7_1276+8delinsGA (n.1276+7_1276+8delinsGA) c.1579+7_1579+8delinsGA (n.1579+7_1579+8delinsGA) c.1186+7_1186+8delinsGA (n.1186+7_1186+8delinsGA) c.1273+7_1273+8delinsGA (n.1273+7_1273+8delinsGA) c.1432+7_1432+8delinsGA (n.1432+7_1432+8delinsGA) c.1201+7_1201+8delinsGA (n.1201+7_1201+8delinsGA) | |
12 | g.66455402del | CA6674409 | GRIP1 | c.1423+7del (n.1423+7del) c.1354+7del (n.1354+7del) c.1198+7del (n.1198+7del) c.460+7del c.874+7522del (n.874+7522del) c.798+7del c.1030+7del (n.1030+7del) c.337+60217del (n.337+60217del) c.656+7del c.1357+7del (n.1357+7del) c.1276+7del (n.1276+7del) c.1579+7del (n.1579+7del) c.1186+7del (n.1186+7del) c.1273+7del (n.1273+7del) c.1432+7del (n.1432+7del) c.1201+7del (n.1201+7del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455402C>G | CA2619716071 | GRIP1 | c.1423+7G>C (n.1423+7G>C) c.1354+7G>C (n.1354+7G>C) c.1198+7G>C (n.1198+7G>C) c.460+7G>C c.874+7522G>C (n.874+7522G>C) c.798+7G>C c.1030+7G>C (n.1030+7G>C) c.337+60217G>C (n.337+60217G>C) c.656+7G>C c.1357+7G>C (n.1357+7G>C) c.1276+7G>C (n.1276+7G>C) c.1579+7G>C (n.1579+7G>C) c.1186+7G>C (n.1186+7G>C) c.1273+7G>C (n.1273+7G>C) c.1432+7G>C (n.1432+7G>C) c.1201+7G>C (n.1201+7G>C) | gnomAD v4 |
12 | g.66455404C>T | CA2619716072 | GRIP1 | c.1423+5G>A (n.1423+5G>A) c.1354+5G>A (n.1354+5G>A) c.1198+5G>A (n.1198+5G>A) c.460+5G>A c.874+7520G>A (n.874+7520G>A) c.798+5G>A c.1030+5G>A (n.1030+5G>A) c.337+60215G>A (n.337+60215G>A) c.656+5G>A c.1357+5G>A (n.1357+5G>A) c.1276+5G>A (n.1276+5G>A) c.1579+5G>A (n.1579+5G>A) c.1186+5G>A (n.1186+5G>A) c.1273+5G>A (n.1273+5G>A) c.1432+5G>A (n.1432+5G>A) c.1201+5G>A (n.1201+5G>A) | gnomAD v4 |
12 | g.66455405T>A | CA6674410 | GRIP1 | c.1423+4A>T (n.1423+4A>T) c.1354+4A>T (n.1354+4A>T) c.1198+4A>T (n.1198+4A>T) c.460+4A>T c.874+7519A>T (n.874+7519A>T) c.798+4A>T c.1030+4A>T (n.1030+4A>T) c.337+60214A>T (n.337+60214A>T) c.656+4A>T c.1357+4A>T (n.1357+4A>T) c.1276+4A>T (n.1276+4A>T) c.1579+4A>T (n.1579+4A>T) c.1186+4A>T (n.1186+4A>T) c.1273+4A>T (n.1273+4A>T) c.1432+4A>T (n.1432+4A>T) c.1201+4A>T (n.1201+4A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455405T= | CA2043057169 | GRIP1 | c.1423+4A= (n.1423+4A=) c.1354+4A= (n.1354+4A=) c.1198+4A= (n.1198+4A=) c.460+4A= c.874+7519A= (n.874+7519A=) c.798+4A= c.1030+4A= (n.1030+4A=) c.337+60214A= (n.337+60214A=) c.656+4A= c.1357+4A= (n.1357+4A=) c.1276+4A= (n.1276+4A=) c.1579+4A= (n.1579+4A=) c.1186+4A= (n.1186+4A=) c.1273+4A= (n.1273+4A=) c.1432+4A= (n.1432+4A=) c.1201+4A= (n.1201+4A=) | |
12 | g.66455407A>C | CA385625624 | GRIP1 | c.1423+2T>G (n.1423+2T>G) c.1354+2T>G (n.1354+2T>G) c.1198+2T>G (n.1198+2T>G) c.460+2T>G c.874+7517T>G (n.874+7517T>G) c.798+2T>G c.1030+2T>G (n.1030+2T>G) c.337+60212T>G (n.337+60212T>G) c.656+2T>G c.1357+2T>G (n.1357+2T>G) c.1276+2T>G (n.1276+2T>G) c.1579+2T>G (n.1579+2T>G) c.1186+2T>G (n.1186+2T>G) c.1273+2T>G (n.1273+2T>G) c.1432+2T>G (n.1432+2T>G) c.1201+2T>G (n.1201+2T>G) | |
12 | g.66455407A>G | CA385625629 | GRIP1 | c.1423+2T>C (n.1423+2T>C) c.1354+2T>C (n.1354+2T>C) c.1198+2T>C (n.1198+2T>C) c.460+2T>C c.874+7517T>C (n.874+7517T>C) c.798+2T>C c.1030+2T>C (n.1030+2T>C) c.337+60212T>C (n.337+60212T>C) c.656+2T>C c.1357+2T>C (n.1357+2T>C) c.1276+2T>C (n.1276+2T>C) c.1579+2T>C (n.1579+2T>C) c.1186+2T>C (n.1186+2T>C) c.1273+2T>C (n.1273+2T>C) c.1432+2T>C (n.1432+2T>C) c.1201+2T>C (n.1201+2T>C) | |
12 | g.66455407A>T | CA385625631 | GRIP1 | c.1423+2T>A (n.1423+2T>A) c.1354+2T>A (n.1354+2T>A) c.1198+2T>A (n.1198+2T>A) c.460+2T>A c.874+7517T>A (n.874+7517T>A) c.798+2T>A c.1030+2T>A (n.1030+2T>A) c.337+60212T>A (n.337+60212T>A) c.656+2T>A c.1357+2T>A (n.1357+2T>A) c.1276+2T>A (n.1276+2T>A) c.1579+2T>A (n.1579+2T>A) c.1186+2T>A (n.1186+2T>A) c.1273+2T>A (n.1273+2T>A) c.1432+2T>A (n.1432+2T>A) c.1201+2T>A (n.1201+2T>A) | |
12 | g.66455408C>A | CA385625634 | GRIP1 | c.1423+1G>T (n.1423+1G>T) c.1354+1G>T (n.1354+1G>T) c.1198+1G>T (n.1198+1G>T) c.460+1G>T c.874+7516G>T (n.874+7516G>T) c.798+1G>T c.1030+1G>T (n.1030+1G>T) c.337+60211G>T (n.337+60211G>T) c.656+1G>T c.1357+1G>T (n.1357+1G>T) c.1276+1G>T (n.1276+1G>T) c.1579+1G>T (n.1579+1G>T) c.1186+1G>T (n.1186+1G>T) c.1273+1G>T (n.1273+1G>T) c.1432+1G>T (n.1432+1G>T) c.1201+1G>T (n.1201+1G>T) | |
12 | g.66455408C>G | CA385625635 | GRIP1 | c.1423+1G>C (n.1423+1G>C) c.1354+1G>C (n.1354+1G>C) c.1198+1G>C (n.1198+1G>C) c.460+1G>C c.874+7516G>C (n.874+7516G>C) c.798+1G>C c.1030+1G>C (n.1030+1G>C) c.337+60211G>C (n.337+60211G>C) c.656+1G>C c.1357+1G>C (n.1357+1G>C) c.1276+1G>C (n.1276+1G>C) c.1579+1G>C (n.1579+1G>C) c.1186+1G>C (n.1186+1G>C) c.1273+1G>C (n.1273+1G>C) c.1432+1G>C (n.1432+1G>C) c.1201+1G>C (n.1201+1G>C) | |
12 | g.66455408C>T | CA385625638 | GRIP1 | c.1423+1G>A (n.1423+1G>A) c.1354+1G>A (n.1354+1G>A) c.1198+1G>A (n.1198+1G>A) c.460+1G>A c.874+7516G>A (n.874+7516G>A) c.798+1G>A c.1030+1G>A (n.1030+1G>A) c.337+60211G>A (n.337+60211G>A) c.656+1G>A c.1357+1G>A (n.1357+1G>A) c.1276+1G>A (n.1276+1G>A) c.1579+1G>A (n.1579+1G>A) c.1186+1G>A (n.1186+1G>A) c.1273+1G>A (n.1273+1G>A) c.1432+1G>A (n.1432+1G>A) c.1201+1G>A (n.1201+1G>A) | |
12 | g.66455409A= | CA2043057170 | GRIP1 | c.1423T= (p.Leu475=) c.1354T= (p.Leu452=) c.1198T= (p.Leu400=) c.460T= c.874+7515T= (n.874+7515T=) c.798T= c.1030T= (p.Leu344=) c.337+60210T= (n.337+60210T=) c.656T= c.1357T= (p.Leu453=) c.1276T= (p.Leu426=) c.1579T= (p.Leu527=) c.1186T= (p.Leu396=) c.1273T= (p.Leu425=) c.1432T= (p.Leu478=) c.1201T= (p.Leu401=) | |
12 | g.66455409A>C | CA385625649 | GRIP1 | c.1423T>G (p.Leu475Val) c.1354T>G (p.Leu452Val) c.1198T>G (p.Leu400Val) c.460T>G c.874+7515T>G (n.874+7515T>G) c.798T>G c.1030T>G (p.Leu344Val) c.337+60210T>G (n.337+60210T>G) c.656T>G c.1357T>G (p.Leu453Val) c.1276T>G (p.Leu426Val) c.1579T>G (p.Leu527Val) c.1186T>G (p.Leu396Val) c.1273T>G (p.Leu425Val) c.1432T>G (p.Leu478Val) c.1201T>G (p.Leu401Val) | |
12 | g.66455409A>G | CA6674411 | GRIP1 | c.1423T>C (p.Leu475=) c.1354T>C (p.Leu452=) c.1198T>C (p.Leu400=) c.460T>C c.874+7515T>C (n.874+7515T>C) c.798T>C c.1030T>C (p.Leu344=) c.337+60210T>C (n.337+60210T>C) c.656T>C c.1357T>C (p.Leu453=) c.1276T>C (p.Leu426=) c.1579T>C (p.Leu527=) c.1186T>C (p.Leu396=) c.1273T>C (p.Leu425=) c.1432T>C (p.Leu478=) c.1201T>C (p.Leu401=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455409A>T | CA385625653 | GRIP1 | c.1423T>A (p.Leu475Met) c.1354T>A (p.Leu452Met) c.1198T>A (p.Leu400Met) c.460T>A c.874+7515T>A (n.874+7515T>A) c.798T>A c.1030T>A (p.Leu344Met) c.337+60210T>A (n.337+60210T>A) c.656T>A c.1357T>A (p.Leu453Met) c.1276T>A (p.Leu426Met) c.1579T>A (p.Leu527Met) c.1186T>A (p.Leu396Met) c.1273T>A (p.Leu425Met) c.1432T>A (p.Leu478Met) c.1201T>A (p.Leu401Met) | |
12 | g.66455410T>A | CA480573895 | GRIP1 | c.1422A>T (p.Ser474=) c.1353A>T (p.Ser451=) c.1197A>T (p.Ser399=) c.459A>T c.874+7514A>T (n.874+7514A>T) c.797A>T c.1029A>T (p.Ser343=) c.337+60209A>T (n.337+60209A>T) c.655A>T c.1356A>T (p.Ser452=) c.1275A>T (p.Ser425=) c.1578A>T (p.Ser526=) c.1185A>T (p.Ser395=) c.1272A>T (p.Ser424=) c.1431A>T (p.Ser477=) c.1200A>T (p.Ser400=) | dbSNP |
12 | g.66455410T>C | CA480573896 | GRIP1 | c.1422A>G (p.Ser474=) c.1353A>G (p.Ser451=) c.1197A>G (p.Ser399=) c.459A>G c.874+7514A>G (n.874+7514A>G) c.797A>G c.1029A>G (p.Ser343=) c.337+60209A>G (n.337+60209A>G) c.655A>G c.1356A>G (p.Ser452=) c.1275A>G (p.Ser425=) c.1578A>G (p.Ser526=) c.1185A>G (p.Ser395=) c.1272A>G (p.Ser424=) c.1431A>G (p.Ser477=) c.1200A>G (p.Ser400=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455410T>G | CA480573897 | GRIP1 | c.1422A>C (p.Ser474=) c.1353A>C (p.Ser451=) c.1197A>C (p.Ser399=) c.459A>C c.874+7514A>C (n.874+7514A>C) c.797A>C c.1029A>C (p.Ser343=) c.337+60209A>C (n.337+60209A>C) c.655A>C c.1356A>C (p.Ser452=) c.1275A>C (p.Ser425=) c.1578A>C (p.Ser526=) c.1185A>C (p.Ser395=) c.1272A>C (p.Ser424=) c.1431A>C (p.Ser477=) c.1200A>C (p.Ser400=) | dbSNP |
12 | g.66455410T= | CA2043057171 | GRIP1 | c.1422A= (p.Ser474=) c.1353A= (p.Ser451=) c.1197A= (p.Ser399=) c.459A= c.874+7514A= (n.874+7514A=) c.797A= c.1029A= (p.Ser343=) c.337+60209A= (n.337+60209A=) c.655A= c.1356A= (p.Ser452=) c.1275A= (p.Ser425=) c.1578A= (p.Ser526=) c.1185A= (p.Ser395=) c.1272A= (p.Ser424=) c.1431A= (p.Ser477=) c.1200A= (p.Ser400=) | |
12 | g.66455411G>A | CA385625655 | GRIP1 | c.1421C>T (p.Ser474Leu) c.1352C>T (p.Ser451Leu) c.1196C>T (p.Ser399Leu) c.458C>T c.874+7513C>T (n.874+7513C>T) c.796C>T c.1028C>T (p.Ser343Leu) c.337+60208C>T (n.337+60208C>T) c.654C>T c.1355C>T (p.Ser452Leu) c.1274C>T (p.Ser425Leu) c.1577C>T (p.Ser526Leu) c.1184C>T (p.Ser395Leu) c.1271C>T (p.Ser424Leu) c.1430C>T (p.Ser477Leu) c.1199C>T (p.Ser400Leu) | COSMIC COSMIC |
12 | g.66455411G>C | CA385625657 | GRIP1 | c.1421C>G (p.Ser474Ter) c.1352C>G (p.Ser451Ter) c.1196C>G (p.Ser399Ter) c.458C>G c.874+7513C>G (n.874+7513C>G) c.796C>G c.1028C>G (p.Ser343Ter) c.337+60208C>G (n.337+60208C>G) c.654C>G c.1355C>G (p.Ser452Ter) c.1274C>G (p.Ser425Ter) c.1577C>G (p.Ser526Ter) c.1184C>G (p.Ser395Ter) c.1271C>G (p.Ser424Ter) c.1430C>G (p.Ser477Ter) c.1199C>G (p.Ser400Ter) | |
12 | g.66455411G>T | CA385625659 | GRIP1 | c.1421C>A (p.Ser474Ter) c.1352C>A (p.Ser451Ter) c.1196C>A (p.Ser399Ter) c.458C>A c.874+7513C>A (n.874+7513C>A) c.796C>A c.1028C>A (p.Ser343Ter) c.337+60208C>A (n.337+60208C>A) c.654C>A c.1355C>A (p.Ser452Ter) c.1274C>A (p.Ser425Ter) c.1577C>A (p.Ser526Ter) c.1184C>A (p.Ser395Ter) c.1271C>A (p.Ser424Ter) c.1430C>A (p.Ser477Ter) c.1199C>A (p.Ser400Ter) | |
12 | g.66455412A>C | CA385625661 | GRIP1 | c.1420T>G (p.Ser474Ala) c.1351T>G (p.Ser451Ala) c.1195T>G (p.Ser399Ala) c.457T>G c.874+7512T>G (n.874+7512T>G) c.795T>G c.1027T>G (p.Ser343Ala) c.337+60207T>G (n.337+60207T>G) c.653T>G c.1354T>G (p.Ser452Ala) c.1273T>G (p.Ser425Ala) c.1576T>G (p.Ser526Ala) c.1183T>G (p.Ser395Ala) c.1270T>G (p.Ser424Ala) c.1429T>G (p.Ser477Ala) c.1198T>G (p.Ser400Ala) | |
12 | g.66455412A>G | CA385625666 | GRIP1 | c.1420T>C (p.Ser474Pro) c.1351T>C (p.Ser451Pro) c.1195T>C (p.Ser399Pro) c.457T>C c.874+7512T>C (n.874+7512T>C) c.795T>C c.1027T>C (p.Ser343Pro) c.337+60207T>C (n.337+60207T>C) c.653T>C c.1354T>C (p.Ser452Pro) c.1273T>C (p.Ser425Pro) c.1576T>C (p.Ser526Pro) c.1183T>C (p.Ser395Pro) c.1270T>C (p.Ser424Pro) c.1429T>C (p.Ser477Pro) c.1198T>C (p.Ser400Pro) | |
12 | g.66455412A>T | CA385625663 | GRIP1 | c.1420T>A (p.Ser474Thr) c.1351T>A (p.Ser451Thr) c.1195T>A (p.Ser399Thr) c.457T>A c.874+7512T>A (n.874+7512T>A) c.795T>A c.1027T>A (p.Ser343Thr) c.337+60207T>A (n.337+60207T>A) c.653T>A c.1354T>A (p.Ser452Thr) c.1273T>A (p.Ser425Thr) c.1576T>A (p.Ser526Thr) c.1183T>A (p.Ser395Thr) c.1270T>A (p.Ser424Thr) c.1429T>A (p.Ser477Thr) c.1198T>A (p.Ser400Thr) | |
12 | g.66455413G>A | CA6674412 | GRIP1 | c.1419C>T (p.Ser473=) c.1350C>T (p.Ser450=) c.1194C>T (p.Ser398=) c.456C>T c.874+7511C>T (n.874+7511C>T) c.794C>T c.1026C>T (p.Ser342=) c.337+60206C>T (n.337+60206C>T) c.652C>T c.1353C>T (p.Ser451=) c.1272C>T (p.Ser424=) c.1575C>T (p.Ser525=) c.1182C>T (p.Ser394=) c.1269C>T (p.Ser423=) c.1428C>T (p.Ser476=) c.1197C>T (p.Ser399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455413G>C | CA385625668 | GRIP1 | c.1419C>G (p.Ser473Arg) c.1350C>G (p.Ser450Arg) c.1194C>G (p.Ser398Arg) c.456C>G c.874+7511C>G (n.874+7511C>G) c.794C>G c.1026C>G (p.Ser342Arg) c.337+60206C>G (n.337+60206C>G) c.652C>G c.1353C>G (p.Ser451Arg) c.1272C>G (p.Ser424Arg) c.1575C>G (p.Ser525Arg) c.1182C>G (p.Ser394Arg) c.1269C>G (p.Ser423Arg) c.1428C>G (p.Ser476Arg) c.1197C>G (p.Ser399Arg) | |
12 | g.66455413G= | CA2043057172 | GRIP1 | c.1419C= (p.Ser473=) c.1350C= (p.Ser450=) c.1194C= (p.Ser398=) c.456C= c.874+7511C= (n.874+7511C=) c.794C= c.1026C= (p.Ser342=) c.337+60206C= (n.337+60206C=) c.652C= c.1353C= (p.Ser451=) c.1272C= (p.Ser424=) c.1575C= (p.Ser525=) c.1182C= (p.Ser394=) c.1269C= (p.Ser423=) c.1428C= (p.Ser476=) c.1197C= (p.Ser399=) | |
12 | g.66455413G>T | CA385625669 | GRIP1 | c.1419C>A (p.Ser473Arg) c.1350C>A (p.Ser450Arg) c.1194C>A (p.Ser398Arg) c.456C>A c.874+7511C>A (n.874+7511C>A) c.794C>A c.1026C>A (p.Ser342Arg) c.337+60206C>A (n.337+60206C>A) c.652C>A c.1353C>A (p.Ser451Arg) c.1272C>A (p.Ser424Arg) c.1575C>A (p.Ser525Arg) c.1182C>A (p.Ser394Arg) c.1269C>A (p.Ser423Arg) c.1428C>A (p.Ser476Arg) c.1197C>A (p.Ser399Arg) | |
12 | g.66455414C>A | CA385625672 | GRIP1 | c.1418G>T (p.Ser473Ile) c.1349G>T (p.Ser450Ile) c.1193G>T (p.Ser398Ile) c.455G>T c.874+7510G>T (n.874+7510G>T) c.793G>T c.1025G>T (p.Ser342Ile) c.337+60205G>T (n.337+60205G>T) c.651G>T c.1352G>T (p.Ser451Ile) c.1271G>T (p.Ser424Ile) c.1574G>T (p.Ser525Ile) c.1181G>T (p.Ser394Ile) c.1268G>T (p.Ser423Ile) c.1427G>T (p.Ser476Ile) c.1196G>T (p.Ser399Ile) | gnomAD v4 COSMIC COSMIC |
12 | g.66455414C= | CA2043057173 | GRIP1 | c.1418G= (p.Ser473=) c.1349G= (p.Ser450=) c.1193G= (p.Ser398=) c.455G= c.874+7510G= (n.874+7510G=) c.793G= c.1025G= (p.Ser342=) c.337+60205G= (n.337+60205G=) c.651G= c.1352G= (p.Ser451=) c.1271G= (p.Ser424=) c.1574G= (p.Ser525=) c.1181G= (p.Ser394=) c.1268G= (p.Ser423=) c.1427G= (p.Ser476=) c.1196G= (p.Ser399=) | |
12 | g.66455414C>G | CA385625673 | GRIP1 | c.1418G>C (p.Ser473Thr) c.1349G>C (p.Ser450Thr) c.1193G>C (p.Ser398Thr) c.455G>C c.874+7510G>C (n.874+7510G>C) c.793G>C c.1025G>C (p.Ser342Thr) c.337+60205G>C (n.337+60205G>C) c.651G>C c.1352G>C (p.Ser451Thr) c.1271G>C (p.Ser424Thr) c.1574G>C (p.Ser525Thr) c.1181G>C (p.Ser394Thr) c.1268G>C (p.Ser423Thr) c.1427G>C (p.Ser476Thr) c.1196G>C (p.Ser399Thr) | gnomAD v4 |
12 | g.66455414C>T | CA385625675 | GRIP1 | c.1418G>A (p.Ser473Asn) c.1349G>A (p.Ser450Asn) c.1193G>A (p.Ser398Asn) c.455G>A c.874+7510G>A (n.874+7510G>A) c.793G>A c.1025G>A (p.Ser342Asn) c.337+60205G>A (n.337+60205G>A) c.651G>A c.1352G>A (p.Ser451Asn) c.1271G>A (p.Ser424Asn) c.1574G>A (p.Ser525Asn) c.1181G>A (p.Ser394Asn) c.1268G>A (p.Ser423Asn) c.1427G>A (p.Ser476Asn) c.1196G>A (p.Ser399Asn) | ClinVar dbSNP gnomAD v2 |
12 | g.66455415T>A | CA385625679 | GRIP1 | c.1417A>T (p.Ser473Cys) c.1348A>T (p.Ser450Cys) c.1192A>T (p.Ser398Cys) c.454A>T c.874+7509A>T (n.874+7509A>T) c.792A>T c.1024A>T (p.Ser342Cys) c.337+60204A>T (n.337+60204A>T) c.650A>T c.1351A>T (p.Ser451Cys) c.1270A>T (p.Ser424Cys) c.1573A>T (p.Ser525Cys) c.1180A>T (p.Ser394Cys) c.1267A>T (p.Ser423Cys) c.1426A>T (p.Ser476Cys) c.1195A>T (p.Ser399Cys) | |
12 | g.66455415T>C | CA385625677 | GRIP1 | c.1417A>G (p.Ser473Gly) c.1348A>G (p.Ser450Gly) c.1192A>G (p.Ser398Gly) c.454A>G c.874+7509A>G (n.874+7509A>G) c.792A>G c.1024A>G (p.Ser342Gly) c.337+60204A>G (n.337+60204A>G) c.650A>G c.1351A>G (p.Ser451Gly) c.1270A>G (p.Ser424Gly) c.1573A>G (p.Ser525Gly) c.1180A>G (p.Ser394Gly) c.1267A>G (p.Ser423Gly) c.1426A>G (p.Ser476Gly) c.1195A>G (p.Ser399Gly) | |
12 | g.66455415T>G | CA385625678 | GRIP1 | c.1417A>C (p.Ser473Arg) c.1348A>C (p.Ser450Arg) c.1192A>C (p.Ser398Arg) c.454A>C c.874+7509A>C (n.874+7509A>C) c.792A>C c.1024A>C (p.Ser342Arg) c.337+60204A>C (n.337+60204A>C) c.650A>C c.1351A>C (p.Ser451Arg) c.1270A>C (p.Ser424Arg) c.1573A>C (p.Ser525Arg) c.1180A>C (p.Ser394Arg) c.1267A>C (p.Ser423Arg) c.1426A>C (p.Ser476Arg) c.1195A>C (p.Ser399Arg) | |
12 | g.66455416T>A | CA385625681 | GRIP1 | c.1416A>T (p.Lys472Asn) c.1347A>T (p.Lys449Asn) c.1191A>T (p.Lys397Asn) c.453A>T c.874+7508A>T (n.874+7508A>T) c.791A>T c.1023A>T (p.Lys341Asn) c.337+60203A>T (n.337+60203A>T) c.649A>T c.1350A>T (p.Lys450Asn) c.1269A>T (p.Lys423Asn) c.1572A>T (p.Lys524Asn) c.1179A>T (p.Lys393Asn) c.1266A>T (p.Lys422Asn) c.1425A>T (p.Lys475Asn) c.1194A>T (p.Lys398Asn) | |
12 | g.66455416T>C | CA480573898 | GRIP1 | c.1416A>G (p.Lys472=) c.1347A>G (p.Lys449=) c.1191A>G (p.Lys397=) c.453A>G c.874+7508A>G (n.874+7508A>G) c.791A>G c.1023A>G (p.Lys341=) c.337+60203A>G (n.337+60203A>G) c.649A>G c.1350A>G (p.Lys450=) c.1269A>G (p.Lys423=) c.1572A>G (p.Lys524=) c.1179A>G (p.Lys393=) c.1266A>G (p.Lys422=) c.1425A>G (p.Lys475=) c.1194A>G (p.Lys398=) | |
12 | g.66455416T>G | CA385625683 | GRIP1 | c.1416A>C (p.Lys472Asn) c.1347A>C (p.Lys449Asn) c.1191A>C (p.Lys397Asn) c.453A>C c.874+7508A>C (n.874+7508A>C) c.791A>C c.1023A>C (p.Lys341Asn) c.337+60203A>C (n.337+60203A>C) c.649A>C c.1350A>C (p.Lys450Asn) c.1269A>C (p.Lys423Asn) c.1572A>C (p.Lys524Asn) c.1179A>C (p.Lys393Asn) c.1266A>C (p.Lys422Asn) c.1425A>C (p.Lys475Asn) c.1194A>C (p.Lys398Asn) | |
12 | g.66455417T>A | CA385625685 | GRIP1 | c.1415A>T (p.Lys472Ile) c.1346A>T (p.Lys449Ile) c.1190A>T (p.Lys397Ile) c.452A>T c.874+7507A>T (n.874+7507A>T) c.790A>T c.1022A>T (p.Lys341Ile) c.337+60202A>T (n.337+60202A>T) c.648A>T c.1349A>T (p.Lys450Ile) c.1268A>T (p.Lys423Ile) c.1571A>T (p.Lys524Ile) c.1178A>T (p.Lys393Ile) c.1265A>T (p.Lys422Ile) c.1424A>T (p.Lys475Ile) c.1193A>T (p.Lys398Ile) | |
12 | g.66455417T>C | CA385625698 | GRIP1 | c.1415A>G (p.Lys472Arg) c.1346A>G (p.Lys449Arg) c.1190A>G (p.Lys397Arg) c.452A>G c.874+7507A>G (n.874+7507A>G) c.790A>G c.1022A>G (p.Lys341Arg) c.337+60202A>G (n.337+60202A>G) c.648A>G c.1349A>G (p.Lys450Arg) c.1268A>G (p.Lys423Arg) c.1571A>G (p.Lys524Arg) c.1178A>G (p.Lys393Arg) c.1265A>G (p.Lys422Arg) c.1424A>G (p.Lys475Arg) c.1193A>G (p.Lys398Arg) | dbSNP gnomAD v4 |
12 | g.66455417T>G | CA385625701 | GRIP1 | c.1415A>C (p.Lys472Thr) c.1346A>C (p.Lys449Thr) c.1190A>C (p.Lys397Thr) c.452A>C c.874+7507A>C (n.874+7507A>C) c.790A>C c.1022A>C (p.Lys341Thr) c.337+60202A>C (n.337+60202A>C) c.648A>C c.1349A>C (p.Lys450Thr) c.1268A>C (p.Lys423Thr) c.1571A>C (p.Lys524Thr) c.1178A>C (p.Lys393Thr) c.1265A>C (p.Lys422Thr) c.1424A>C (p.Lys475Thr) c.1193A>C (p.Lys398Thr) | |
12 | g.66455417T= | CA2043057174 | GRIP1 | c.1415A= (p.Lys472=) c.1346A= (p.Lys449=) c.1190A= (p.Lys397=) c.452A= c.874+7507A= (n.874+7507A=) c.790A= c.1022A= (p.Lys341=) c.337+60202A= (n.337+60202A=) c.648A= c.1349A= (p.Lys450=) c.1268A= (p.Lys423=) c.1571A= (p.Lys524=) c.1178A= (p.Lys393=) c.1265A= (p.Lys422=) c.1424A= (p.Lys475=) c.1193A= (p.Lys398=) | |
12 | g.66455418T>A | CA385625704 | GRIP1 | c.1414A>T (p.Lys472Ter) c.1345A>T (p.Lys449Ter) c.1189A>T (p.Lys397Ter) c.451A>T c.874+7506A>T (n.874+7506A>T) c.789A>T c.1021A>T (p.Lys341Ter) c.337+60201A>T (n.337+60201A>T) c.647A>T c.1348A>T (p.Lys450Ter) c.1267A>T (p.Lys423Ter) c.1570A>T (p.Lys524Ter) c.1177A>T (p.Lys393Ter) c.1264A>T (p.Lys422Ter) c.1423A>T (p.Lys475Ter) c.1192A>T (p.Lys398Ter) | |
12 | g.66455418T>C | CA385625708 | GRIP1 | c.1414A>G (p.Lys472Glu) c.1345A>G (p.Lys449Glu) c.1189A>G (p.Lys397Glu) c.451A>G c.874+7506A>G (n.874+7506A>G) c.789A>G c.1021A>G (p.Lys341Glu) c.337+60201A>G (n.337+60201A>G) c.647A>G c.1348A>G (p.Lys450Glu) c.1267A>G (p.Lys423Glu) c.1570A>G (p.Lys524Glu) c.1177A>G (p.Lys393Glu) c.1264A>G (p.Lys422Glu) c.1423A>G (p.Lys475Glu) c.1192A>G (p.Lys398Glu) | gnomAD v4 |
12 | g.66455418T>G | CA385625706 | GRIP1 | c.1414A>C (p.Lys472Gln) c.1345A>C (p.Lys449Gln) c.1189A>C (p.Lys397Gln) c.451A>C c.874+7506A>C (n.874+7506A>C) c.789A>C c.1021A>C (p.Lys341Gln) c.337+60201A>C (n.337+60201A>C) c.647A>C c.1348A>C (p.Lys450Gln) c.1267A>C (p.Lys423Gln) c.1570A>C (p.Lys524Gln) c.1177A>C (p.Lys393Gln) c.1264A>C (p.Lys422Gln) c.1423A>C (p.Lys475Gln) c.1192A>C (p.Lys398Gln) | |
12 | g.66455419G>A | CA480573899 | GRIP1 | c.1413C>T (p.Phe471=) c.1344C>T (p.Phe448=) c.1188C>T (p.Phe396=) c.450C>T c.874+7505C>T (n.874+7505C>T) c.788C>T c.1020C>T (p.Phe340=) c.337+60200C>T (n.337+60200C>T) c.646C>T c.1347C>T (p.Phe449=) c.1266C>T (p.Phe422=) c.1569C>T (p.Phe523=) c.1176C>T (p.Phe392=) c.1263C>T (p.Phe421=) c.1422C>T (p.Phe474=) c.1191C>T (p.Phe397=) | |
12 | g.66455419G>C | CA385625712 | GRIP1 | c.1413C>G (p.Phe471Leu) c.1344C>G (p.Phe448Leu) c.1188C>G (p.Phe396Leu) c.450C>G c.874+7505C>G (n.874+7505C>G) c.788C>G c.1020C>G (p.Phe340Leu) c.337+60200C>G (n.337+60200C>G) c.646C>G c.1347C>G (p.Phe449Leu) c.1266C>G (p.Phe422Leu) c.1569C>G (p.Phe523Leu) c.1176C>G (p.Phe392Leu) c.1263C>G (p.Phe421Leu) c.1422C>G (p.Phe474Leu) c.1191C>G (p.Phe397Leu) | |
12 | g.66455419G>T | CA385625714 | GRIP1 | c.1413C>A (p.Phe471Leu) c.1344C>A (p.Phe448Leu) c.1188C>A (p.Phe396Leu) c.450C>A c.874+7505C>A (n.874+7505C>A) c.788C>A c.1020C>A (p.Phe340Leu) c.337+60200C>A (n.337+60200C>A) c.646C>A c.1347C>A (p.Phe449Leu) c.1266C>A (p.Phe422Leu) c.1569C>A (p.Phe523Leu) c.1176C>A (p.Phe392Leu) c.1263C>A (p.Phe421Leu) c.1422C>A (p.Phe474Leu) c.1191C>A (p.Phe397Leu) | gnomAD v4 |
12 | g.66455420A>C | CA385625715 | GRIP1 | c.1412T>G (p.Phe471Cys) c.1343T>G (p.Phe448Cys) c.1187T>G (p.Phe396Cys) c.449T>G c.874+7504T>G (n.874+7504T>G) c.787T>G c.1019T>G (p.Phe340Cys) c.337+60199T>G (n.337+60199T>G) c.645T>G c.1346T>G (p.Phe449Cys) c.1265T>G (p.Phe422Cys) c.1568T>G (p.Phe523Cys) c.1175T>G (p.Phe392Cys) c.1262T>G (p.Phe421Cys) c.1421T>G (p.Phe474Cys) c.1190T>G (p.Phe397Cys) | |
12 | g.66455420A>G | CA385625717 | GRIP1 | c.1412T>C (p.Phe471Ser) c.1343T>C (p.Phe448Ser) c.1187T>C (p.Phe396Ser) c.449T>C c.874+7504T>C (n.874+7504T>C) c.787T>C c.1019T>C (p.Phe340Ser) c.337+60199T>C (n.337+60199T>C) c.645T>C c.1346T>C (p.Phe449Ser) c.1265T>C (p.Phe422Ser) c.1568T>C (p.Phe523Ser) c.1175T>C (p.Phe392Ser) c.1262T>C (p.Phe421Ser) c.1421T>C (p.Phe474Ser) c.1190T>C (p.Phe397Ser) | |
12 | g.66455420A>T | CA385625718 | GRIP1 | c.1412T>A (p.Phe471Tyr) c.1343T>A (p.Phe448Tyr) c.1187T>A (p.Phe396Tyr) c.449T>A c.874+7504T>A (n.874+7504T>A) c.787T>A c.1019T>A (p.Phe340Tyr) c.337+60199T>A (n.337+60199T>A) c.645T>A c.1346T>A (p.Phe449Tyr) c.1265T>A (p.Phe422Tyr) c.1568T>A (p.Phe523Tyr) c.1175T>A (p.Phe392Tyr) c.1262T>A (p.Phe421Tyr) c.1421T>A (p.Phe474Tyr) c.1190T>A (p.Phe397Tyr) | |
12 | g.66455421A= | CA2043057175 | GRIP1 | c.1411T= (p.Phe471=) c.1342T= (p.Phe448=) c.1186T= (p.Phe396=) c.448T= c.874+7503T= (n.874+7503T=) c.786T= c.1018T= (p.Phe340=) c.337+60198T= (n.337+60198T=) c.644T= c.1345T= (p.Phe449=) c.1264T= (p.Phe422=) c.1567T= (p.Phe523=) c.1174T= (p.Phe392=) c.1261T= (p.Phe421=) c.1420T= (p.Phe474=) c.1189T= (p.Phe397=) | |
12 | g.66455421A>C | CA385625721 | GRIP1 | c.1411T>G (p.Phe471Val) c.1342T>G (p.Phe448Val) c.1186T>G (p.Phe396Val) c.448T>G c.874+7503T>G (n.874+7503T>G) c.786T>G c.1018T>G (p.Phe340Val) c.337+60198T>G (n.337+60198T>G) c.644T>G c.1345T>G (p.Phe449Val) c.1264T>G (p.Phe422Val) c.1567T>G (p.Phe523Val) c.1174T>G (p.Phe392Val) c.1261T>G (p.Phe421Val) c.1420T>G (p.Phe474Val) c.1189T>G (p.Phe397Val) | |
12 | g.66455421A>G | CA385625724 | GRIP1 | c.1411T>C (p.Phe471Leu) c.1342T>C (p.Phe448Leu) c.1186T>C (p.Phe396Leu) c.448T>C c.874+7503T>C (n.874+7503T>C) c.786T>C c.1018T>C (p.Phe340Leu) c.337+60198T>C (n.337+60198T>C) c.644T>C c.1345T>C (p.Phe449Leu) c.1264T>C (p.Phe422Leu) c.1567T>C (p.Phe523Leu) c.1174T>C (p.Phe392Leu) c.1261T>C (p.Phe421Leu) c.1420T>C (p.Phe474Leu) c.1189T>C (p.Phe397Leu) | dbSNP gnomAD v4 |
12 | g.66455421A>T | CA385625725 | GRIP1 | c.1411T>A (p.Phe471Ile) c.1342T>A (p.Phe448Ile) c.1186T>A (p.Phe396Ile) c.448T>A c.874+7503T>A (n.874+7503T>A) c.786T>A c.1018T>A (p.Phe340Ile) c.337+60198T>A (n.337+60198T>A) c.644T>A c.1345T>A (p.Phe449Ile) c.1264T>A (p.Phe422Ile) c.1567T>A (p.Phe523Ile) c.1174T>A (p.Phe392Ile) c.1261T>A (p.Phe421Ile) c.1420T>A (p.Phe474Ile) c.1189T>A (p.Phe397Ile) | |
12 | g.66455422G>A | CA480573900 | GRIP1 | c.1410C>T (p.Asp470=) c.1341C>T (p.Asp447=) c.1185C>T (p.Asp395=) c.447C>T c.874+7502C>T (n.874+7502C>T) c.785C>T c.1017C>T (p.Asp339=) c.337+60197C>T (n.337+60197C>T) c.643C>T c.1344C>T (p.Asp448=) c.1263C>T (p.Asp421=) c.1566C>T (p.Asp522=) c.1173C>T (p.Asp391=) c.1260C>T (p.Asp420=) c.1419C>T (p.Asp473=) c.1188C>T (p.Asp396=) | |
12 | g.66455422G>C | CA385625727 | GRIP1 | c.1410C>G (p.Asp470Glu) c.1341C>G (p.Asp447Glu) c.1185C>G (p.Asp395Glu) c.447C>G c.874+7502C>G (n.874+7502C>G) c.785C>G c.1017C>G (p.Asp339Glu) c.337+60197C>G (n.337+60197C>G) c.643C>G c.1344C>G (p.Asp448Glu) c.1263C>G (p.Asp421Glu) c.1566C>G (p.Asp522Glu) c.1173C>G (p.Asp391Glu) c.1260C>G (p.Asp420Glu) c.1419C>G (p.Asp473Glu) c.1188C>G (p.Asp396Glu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.66455422G= | CA2043057177 | GRIP1 | c.1410C= (p.Asp470=) c.1341C= (p.Asp447=) c.1185C= (p.Asp395=) c.447C= c.874+7502C= (n.874+7502C=) c.785C= c.1017C= (p.Asp339=) c.337+60197C= (n.337+60197C=) c.643C= c.1344C= (p.Asp448=) c.1263C= (p.Asp421=) c.1566C= (p.Asp522=) c.1173C= (p.Asp391=) c.1260C= (p.Asp420=) c.1419C= (p.Asp473=) c.1188C= (p.Asp396=) | |
12 | g.66455422G>T | CA385625728 | GRIP1 | c.1410C>A (p.Asp470Glu) c.1341C>A (p.Asp447Glu) c.1185C>A (p.Asp395Glu) c.447C>A c.874+7502C>A (n.874+7502C>A) c.785C>A c.1017C>A (p.Asp339Glu) c.337+60197C>A (n.337+60197C>A) c.643C>A c.1344C>A (p.Asp448Glu) c.1263C>A (p.Asp421Glu) c.1566C>A (p.Asp522Glu) c.1173C>A (p.Asp391Glu) c.1260C>A (p.Asp420Glu) c.1419C>A (p.Asp473Glu) c.1188C>A (p.Asp396Glu) | |
12 | g.66455422_66455426delinsGTCTT | CA2043057176 | GRIP1 | c.1406_1410delinsAAGAC (p.Lys469=) c.1337_1341delinsAAGAC (p.Lys446=) c.1181_1185delinsAAGAC (p.Lys394=) c.443_447delinsAAGAC c.874+7498_874+7502delinsAAGAC (n.874+7498_874+7502delinsAAGAC) c.781_785delinsAAGAC c.1013_1017delinsAAGAC (p.Lys338=) c.337+60193_337+60197delinsAAGAC (n.337+60193_337+60197delinsAAGAC) c.639_643delinsAAGAC c.1340_1344delinsAAGAC (p.Lys447=) c.1259_1263delinsAAGAC (p.Lys420=) c.1562_1566delinsAAGAC (p.Lys521=) c.1169_1173delinsAAGAC (p.Lys390=) c.1256_1260delinsAAGAC (p.Lys419=) c.1415_1419delinsAAGAC (p.Lys472=) c.1184_1188delinsAAGAC (p.Lys395=) | |
12 | g.66455423T>A | CA385625733 | GRIP1 | c.1409A>T (p.Asp470Val) c.1340A>T (p.Asp447Val) c.1184A>T (p.Asp395Val) c.446A>T c.874+7501A>T (n.874+7501A>T) c.784A>T c.1016A>T (p.Asp339Val) c.337+60196A>T (n.337+60196A>T) c.642A>T c.1343A>T (p.Asp448Val) c.1262A>T (p.Asp421Val) c.1565A>T (p.Asp522Val) c.1172A>T (p.Asp391Val) c.1259A>T (p.Asp420Val) c.1418A>T (p.Asp473Val) c.1187A>T (p.Asp396Val) | |
12 | g.66455423T>C | CA385625729 | GRIP1 | c.1409A>G (p.Asp470Gly) c.1340A>G (p.Asp447Gly) c.1184A>G (p.Asp395Gly) c.446A>G c.874+7501A>G (n.874+7501A>G) c.784A>G c.1016A>G (p.Asp339Gly) c.337+60196A>G (n.337+60196A>G) c.642A>G c.1343A>G (p.Asp448Gly) c.1262A>G (p.Asp421Gly) c.1565A>G (p.Asp522Gly) c.1172A>G (p.Asp391Gly) c.1259A>G (p.Asp420Gly) c.1418A>G (p.Asp473Gly) c.1187A>G (p.Asp396Gly) | |
12 | g.66455423T>G | CA385625731 | GRIP1 | c.1409A>C (p.Asp470Ala) c.1340A>C (p.Asp447Ala) c.1184A>C (p.Asp395Ala) c.446A>C c.874+7501A>C (n.874+7501A>C) c.784A>C c.1016A>C (p.Asp339Ala) c.337+60196A>C (n.337+60196A>C) c.642A>C c.1343A>C (p.Asp448Ala) c.1262A>C (p.Asp421Ala) c.1565A>C (p.Asp522Ala) c.1172A>C (p.Asp391Ala) c.1259A>C (p.Asp420Ala) c.1418A>C (p.Asp473Ala) c.1187A>C (p.Asp396Ala) | |
12 | g.66455428_66455431del | CA130010 | GRIP1 | c.1406_1409del (p.Lys469ThrfsTer8) c.1337_1340del (p.Lys446ThrfsTer8) c.1181_1184del (p.Lys394ThrfsTer8) c.443_446del c.874+7498_874+7501del (n.874+7498_874+7501del) c.781_784del c.1013_1016del (p.Lys338ThrfsTer8) c.337+60193_337+60196del (n.337+60193_337+60196del) c.639_642del c.1340_1343del (p.Lys447ThrfsTer8) c.1259_1262del (p.Lys420ThrfsTer8) c.1562_1565del (p.Lys521ThrfsTer8) c.1169_1172del (p.Lys390ThrfsTer8) c.1256_1259del (p.Lys419ThrfsTer8) c.1415_1418del (p.Lys472ThrfsTer8) c.1184_1187del (p.Lys395ThrfsTer8) | ClinVar dbSNP gnomAD v4 |
12 | g.66455424C>A | CA6674413 | GRIP1 | c.1408G>T (p.Asp470Tyr) c.1339G>T (p.Asp447Tyr) c.1183G>T (p.Asp395Tyr) c.445G>T c.874+7500G>T (n.874+7500G>T) c.783G>T c.1015G>T (p.Asp339Tyr) c.337+60195G>T (n.337+60195G>T) c.641G>T c.1342G>T (p.Asp448Tyr) c.1261G>T (p.Asp421Tyr) c.1564G>T (p.Asp522Tyr) c.1171G>T (p.Asp391Tyr) c.1258G>T (p.Asp420Tyr) c.1417G>T (p.Asp473Tyr) c.1186G>T (p.Asp396Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.66455424C= | CA2043057178 | GRIP1 | c.1408G= (p.Asp470=) c.1339G= (p.Asp447=) c.1183G= (p.Asp395=) c.445G= c.874+7500G= (n.874+7500G=) c.783G= c.1015G= (p.Asp339=) c.337+60195G= (n.337+60195G=) c.641G= c.1342G= (p.Asp448=) c.1261G= (p.Asp421=) c.1564G= (p.Asp522=) c.1171G= (p.Asp391=) c.1258G= (p.Asp420=) c.1417G= (p.Asp473=) c.1186G= (p.Asp396=) | |
12 | g.66455424C>G | CA385625735 | GRIP1 | c.1408G>C (p.Asp470His) c.1339G>C (p.Asp447His) c.1183G>C (p.Asp395His) c.445G>C c.874+7500G>C (n.874+7500G>C) c.783G>C c.1015G>C (p.Asp339His) c.337+60195G>C (n.337+60195G>C) c.641G>C c.1342G>C (p.Asp448His) c.1261G>C (p.Asp421His) c.1564G>C (p.Asp522His) c.1171G>C (p.Asp391His) c.1258G>C (p.Asp420His) c.1417G>C (p.Asp473His) c.1186G>C (p.Asp396His) | |
12 | g.66455424C>T | CA385625738 | GRIP1 | c.1408G>A (p.Asp470Asn) c.1339G>A (p.Asp447Asn) c.1183G>A (p.Asp395Asn) c.445G>A c.874+7500G>A (n.874+7500G>A) c.783G>A c.1015G>A (p.Asp339Asn) c.337+60195G>A (n.337+60195G>A) c.641G>A c.1342G>A (p.Asp448Asn) c.1261G>A (p.Asp421Asn) c.1564G>A (p.Asp522Asn) c.1171G>A (p.Asp391Asn) c.1258G>A (p.Asp420Asn) c.1417G>A (p.Asp473Asn) c.1186G>A (p.Asp396Asn) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.66455425T>A | CA385625741 | GRIP1 | c.1407A>T (p.Lys469Asn) c.1338A>T (p.Lys446Asn) c.1182A>T (p.Lys394Asn) c.444A>T c.874+7499A>T (n.874+7499A>T) c.782A>T c.1014A>T (p.Lys338Asn) c.337+60194A>T (n.337+60194A>T) c.640A>T c.1341A>T (p.Lys447Asn) c.1260A>T (p.Lys420Asn) c.1563A>T (p.Lys521Asn) c.1170A>T (p.Lys390Asn) c.1257A>T (p.Lys419Asn) c.1416A>T (p.Lys472Asn) c.1185A>T (p.Lys395Asn) | |
12 | g.66455425T>C | CA480573901 | GRIP1 | c.1407A>G (p.Lys469=) c.1338A>G (p.Lys446=) c.1182A>G (p.Lys394=) c.444A>G c.874+7499A>G (n.874+7499A>G) c.782A>G c.1014A>G (p.Lys338=) c.337+60194A>G (n.337+60194A>G) c.640A>G c.1341A>G (p.Lys447=) c.1260A>G (p.Lys420=) c.1563A>G (p.Lys521=) c.1170A>G (p.Lys390=) c.1257A>G (p.Lys419=) c.1416A>G (p.Lys472=) c.1185A>G (p.Lys395=) | gnomAD v4 |
12 | g.66455425T>G | CA385625745 | GRIP1 | c.1407A>C (p.Lys469Asn) c.1338A>C (p.Lys446Asn) c.1182A>C (p.Lys394Asn) c.444A>C c.874+7499A>C (n.874+7499A>C) c.782A>C c.1014A>C (p.Lys338Asn) c.337+60194A>C (n.337+60194A>C) c.640A>C c.1341A>C (p.Lys447Asn) c.1260A>C (p.Lys420Asn) c.1563A>C (p.Lys521Asn) c.1170A>C (p.Lys390Asn) c.1257A>C (p.Lys419Asn) c.1416A>C (p.Lys472Asn) c.1185A>C (p.Lys395Asn) | |
12 | g.66455426T>A | CA385625746 | GRIP1 | c.1406A>T (p.Lys469Ile) c.1337A>T (p.Lys446Ile) c.1181A>T (p.Lys394Ile) c.443A>T c.874+7498A>T (n.874+7498A>T) c.781A>T c.1013A>T (p.Lys338Ile) c.337+60193A>T (n.337+60193A>T) c.639A>T c.1340A>T (p.Lys447Ile) c.1259A>T (p.Lys420Ile) c.1562A>T (p.Lys521Ile) c.1169A>T (p.Lys390Ile) c.1256A>T (p.Lys419Ile) c.1415A>T (p.Lys472Ile) c.1184A>T (p.Lys395Ile) | gnomAD v4 |
12 | g.66455426T>C | CA385625748 | GRIP1 | c.1406A>G (p.Lys469Arg) c.1337A>G (p.Lys446Arg) c.1181A>G (p.Lys394Arg) c.443A>G c.874+7498A>G (n.874+7498A>G) c.781A>G c.1013A>G (p.Lys338Arg) c.337+60193A>G (n.337+60193A>G) c.639A>G c.1340A>G (p.Lys447Arg) c.1259A>G (p.Lys420Arg) c.1562A>G (p.Lys521Arg) c.1169A>G (p.Lys390Arg) c.1256A>G (p.Lys419Arg) c.1415A>G (p.Lys472Arg) c.1184A>G (p.Lys395Arg) | |
12 | g.66455426T>G | CA385625749 | GRIP1 | c.1406A>C (p.Lys469Thr) c.1337A>C (p.Lys446Thr) c.1181A>C (p.Lys394Thr) c.443A>C c.874+7498A>C (n.874+7498A>C) c.781A>C c.1013A>C (p.Lys338Thr) c.337+60193A>C (n.337+60193A>C) c.639A>C c.1340A>C (p.Lys447Thr) c.1259A>C (p.Lys420Thr) c.1562A>C (p.Lys521Thr) c.1169A>C (p.Lys390Thr) c.1256A>C (p.Lys419Thr) c.1415A>C (p.Lys472Thr) c.1184A>C (p.Lys395Thr) | |
12 | g.66455427T>A | CA385625750 | GRIP1 | c.1405A>T (p.Lys469Ter) c.1336A>T (p.Lys446Ter) c.1180A>T (p.Lys394Ter) c.442A>T c.874+7497A>T (n.874+7497A>T) c.780A>T c.1012A>T (p.Lys338Ter) c.337+60192A>T (n.337+60192A>T) c.638A>T c.1339A>T (p.Lys447Ter) c.1258A>T (p.Lys420Ter) c.1561A>T (p.Lys521Ter) c.1168A>T (p.Lys390Ter) c.1255A>T (p.Lys419Ter) c.1414A>T (p.Lys472Ter) c.1183A>T (p.Lys395Ter) | |
12 | g.66455427T>C | CA385625751 | GRIP1 | c.1405A>G (p.Lys469Glu) c.1336A>G (p.Lys446Glu) c.1180A>G (p.Lys394Glu) c.442A>G c.874+7497A>G (n.874+7497A>G) c.780A>G c.1012A>G (p.Lys338Glu) c.337+60192A>G (n.337+60192A>G) c.638A>G c.1339A>G (p.Lys447Glu) c.1258A>G (p.Lys420Glu) c.1561A>G (p.Lys521Glu) c.1168A>G (p.Lys390Glu) c.1255A>G (p.Lys419Glu) c.1414A>G (p.Lys472Glu) c.1183A>G (p.Lys395Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455427T>G | CA385625752 | GRIP1 | c.1405A>C (p.Lys469Gln) c.1336A>C (p.Lys446Gln) c.1180A>C (p.Lys394Gln) c.442A>C c.874+7497A>C (n.874+7497A>C) c.780A>C c.1012A>C (p.Lys338Gln) c.337+60192A>C (n.337+60192A>C) c.638A>C c.1339A>C (p.Lys447Gln) c.1258A>C (p.Lys420Gln) c.1561A>C (p.Lys521Gln) c.1168A>C (p.Lys390Gln) c.1255A>C (p.Lys419Gln) c.1414A>C (p.Lys472Gln) c.1183A>C (p.Lys395Gln) | |
12 | g.66455427T= | CA2043057179 | GRIP1 | c.1405A= (p.Lys469=) c.1336A= (p.Lys446=) c.1180A= (p.Lys394=) c.442A= c.874+7497A= (n.874+7497A=) c.780A= c.1012A= (p.Lys338=) c.337+60192A= (n.337+60192A=) c.638A= c.1339A= (p.Lys447=) c.1258A= (p.Lys420=) c.1561A= (p.Lys521=) c.1168A= (p.Lys390=) c.1255A= (p.Lys419=) c.1414A= (p.Lys472=) c.1183A= (p.Lys395=) | |
12 | g.66455435_66455436insTTCTCCTCCAGACCGTAAGATTCAAGTTTTTCCACCAGGTCCATTTCCCATGCGTTGAACTCCTGACCTTCAGTTATCTTTTTCA | CA2528071854 | GRIP1 | c.1405_1406insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys469IlefsTer?) c.1336_1337insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys446IlefsTer?) c.1180_1181insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys394IlefsTer?) c.442_443insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA c.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (n.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA) c.780_781insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA c.1012_1013insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys338IlefsTer?) c.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (n.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA) c.638_639insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA c.1339_1340insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys447IlefsTer?) c.1258_1259insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys420IlefsTer?) c.1561_1562insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys521IlefsTer?) c.1168_1169insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys390IlefsTer?) c.1255_1256insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys419IlefsTer?) c.1414_1415insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys472IlefsTer?) c.1183_1184insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys395IlefsTer?) | |
12 | g.66455435_66455436insTTCTCCTCAAGACCGTAAGATTCAAGTTTTTCCACCAGGTCCATTTCCCATGCGTTGAACTCCTGACCTTCAGTTATCTTTTTCA | CA2503818401 | GRIP1 | c.1405_1406insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys469IlefsTer?) c.1336_1337insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys446IlefsTer?) c.1180_1181insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys394IlefsTer?) c.442_443insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA c.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (n.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA) c.780_781insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA c.1012_1013insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys338IlefsTer?) c.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (n.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA) c.638_639insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA c.1339_1340insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys447IlefsTer?) c.1258_1259insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys420IlefsTer?) c.1561_1562insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys521IlefsTer?) c.1168_1169insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys390IlefsTer?) c.1255_1256insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys419IlefsTer?) c.1414_1415insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys472IlefsTer?) c.1183_1184insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys395IlefsTer?) | |
12 | g.66455428C>A | CA385625754 | GRIP1 | c.1404G>T (p.Lys468Asn) c.1335G>T (p.Lys445Asn) c.1179G>T (p.Lys393Asn) c.441G>T c.874+7496G>T (n.874+7496G>T) c.779G>T c.1011G>T (p.Lys337Asn) c.337+60191G>T (n.337+60191G>T) c.637G>T c.1338G>T (p.Lys446Asn) c.1257G>T (p.Lys419Asn) c.1560G>T (p.Lys520Asn) c.1167G>T (p.Lys389Asn) c.1254G>T (p.Lys418Asn) c.1413G>T (p.Lys471Asn) c.1182G>T (p.Lys394Asn) | dbSNP gnomAD v4 |
12 | g.66455428C>G | CA385625755 | GRIP1 | c.1404G>C (p.Lys468Asn) c.1335G>C (p.Lys445Asn) c.1179G>C (p.Lys393Asn) c.441G>C c.874+7496G>C (n.874+7496G>C) c.779G>C c.1011G>C (p.Lys337Asn) c.337+60191G>C (n.337+60191G>C) c.637G>C c.1338G>C (p.Lys446Asn) c.1257G>C (p.Lys419Asn) c.1560G>C (p.Lys520Asn) c.1167G>C (p.Lys389Asn) c.1254G>C (p.Lys418Asn) c.1413G>C (p.Lys471Asn) c.1182G>C (p.Lys394Asn) | |
12 | g.66455428C>T | CA480573902 | GRIP1 | c.1404G>A (p.Lys468=) c.1335G>A (p.Lys445=) c.1179G>A (p.Lys393=) c.441G>A c.874+7496G>A (n.874+7496G>A) c.779G>A c.1011G>A (p.Lys337=) c.337+60191G>A (n.337+60191G>A) c.637G>A c.1338G>A (p.Lys446=) c.1257G>A (p.Lys419=) c.1560G>A (p.Lys520=) c.1167G>A (p.Lys389=) c.1254G>A (p.Lys418=) c.1413G>A (p.Lys471=) c.1182G>A (p.Lys394=) | gnomAD v4 |
12 | g.66455429T>A | CA385625757 | GRIP1 | c.1403A>T (p.Lys468Met) c.1334A>T (p.Lys445Met) c.1178A>T (p.Lys393Met) c.440A>T c.874+7495A>T (n.874+7495A>T) c.778A>T c.1010A>T (p.Lys337Met) c.337+60190A>T (n.337+60190A>T) c.636A>T c.1337A>T (p.Lys446Met) c.1256A>T (p.Lys419Met) c.1559A>T (p.Lys520Met) c.1166A>T (p.Lys389Met) c.1253A>T (p.Lys418Met) c.1412A>T (p.Lys471Met) c.1181A>T (p.Lys394Met) | |
12 | g.66455429T>C | CA385625759 | GRIP1 | c.1403A>G (p.Lys468Arg) c.1334A>G (p.Lys445Arg) c.1178A>G (p.Lys393Arg) c.440A>G c.874+7495A>G (n.874+7495A>G) c.778A>G c.1010A>G (p.Lys337Arg) c.337+60190A>G (n.337+60190A>G) c.636A>G c.1337A>G (p.Lys446Arg) c.1256A>G (p.Lys419Arg) c.1559A>G (p.Lys520Arg) c.1166A>G (p.Lys389Arg) c.1253A>G (p.Lys418Arg) c.1412A>G (p.Lys471Arg) c.1181A>G (p.Lys394Arg) | |
12 | g.66455429T>G | CA385625761 | GRIP1 | c.1403A>C (p.Lys468Thr) c.1334A>C (p.Lys445Thr) c.1178A>C (p.Lys393Thr) c.440A>C c.874+7495A>C (n.874+7495A>C) c.778A>C c.1010A>C (p.Lys337Thr) c.337+60190A>C (n.337+60190A>C) c.636A>C c.1337A>C (p.Lys446Thr) c.1256A>C (p.Lys419Thr) c.1559A>C (p.Lys520Thr) c.1166A>C (p.Lys389Thr) c.1253A>C (p.Lys418Thr) c.1412A>C (p.Lys471Thr) c.1181A>C (p.Lys394Thr) | |
12 | g.66455430T>A | CA385625768 | GRIP1 | c.1402A>T (p.Lys468Ter) c.1333A>T (p.Lys445Ter) c.1177A>T (p.Lys393Ter) c.439A>T c.874+7494A>T (n.874+7494A>T) c.777A>T c.1009A>T (p.Lys337Ter) c.337+60189A>T (n.337+60189A>T) c.635A>T c.1336A>T (p.Lys446Ter) c.1255A>T (p.Lys419Ter) c.1558A>T (p.Lys520Ter) c.1165A>T (p.Lys389Ter) c.1252A>T (p.Lys418Ter) c.1411A>T (p.Lys471Ter) c.1180A>T (p.Lys394Ter) | |
12 | g.66455430T>C | CA385625764 | GRIP1 | c.1402A>G (p.Lys468Glu) c.1333A>G (p.Lys445Glu) c.1177A>G (p.Lys393Glu) c.439A>G c.874+7494A>G (n.874+7494A>G) c.777A>G c.1009A>G (p.Lys337Glu) c.337+60189A>G (n.337+60189A>G) c.635A>G c.1336A>G (p.Lys446Glu) c.1255A>G (p.Lys419Glu) c.1558A>G (p.Lys520Glu) c.1165A>G (p.Lys389Glu) c.1252A>G (p.Lys418Glu) c.1411A>G (p.Lys471Glu) c.1180A>G (p.Lys394Glu) | |
12 | g.66455430T>G | CA385625766 | GRIP1 | c.1402A>C (p.Lys468Gln) c.1333A>C (p.Lys445Gln) c.1177A>C (p.Lys393Gln) c.439A>C c.874+7494A>C (n.874+7494A>C) c.777A>C c.1009A>C (p.Lys337Gln) c.337+60189A>C (n.337+60189A>C) c.635A>C c.1336A>C (p.Lys446Gln) c.1255A>C (p.Lys419Gln) c.1558A>C (p.Lys520Gln) c.1165A>C (p.Lys389Gln) c.1252A>C (p.Lys418Gln) c.1411A>C (p.Lys471Gln) c.1180A>C (p.Lys394Gln) | |
12 | g.66455430_66455431insGCTC | CA2571269892 | GRIP1 | c.1401_1402insGAGC (p.Lys468GlufsTer?) c.1332_1333insGAGC (p.Lys445GlufsTer?) c.1176_1177insGAGC (p.Lys393GlufsTer?) c.438_439insGAGC c.874+7493_874+7494insGAGC (n.874+7493_874+7494insGAGC) c.776_777insGAGC c.1008_1009insGAGC (p.Lys337GlufsTer?) c.337+60188_337+60189insGAGC (n.337+60188_337+60189insGAGC) c.634_635insGAGC c.1335_1336insGAGC (p.Lys446GlufsTer?) c.1254_1255insGAGC (p.Lys419GlufsTer?) c.1557_1558insGAGC (p.Lys520GlufsTer?) c.1164_1165insGAGC (p.Lys389GlufsTer?) c.1251_1252insGAGC (p.Lys418GlufsTer?) c.1410_1411insGAGC (p.Lys471GlufsTer?) c.1179_1180insGAGC (p.Lys394GlufsTer?) | |
12 | g.66455431T>A | CA385625771 | GRIP1 | c.1401A>T (p.Lys467Asn) c.1332A>T (p.Lys444Asn) c.1176A>T (p.Lys392Asn) c.438A>T c.874+7493A>T (n.874+7493A>T) c.776A>T c.1008A>T (p.Lys336Asn) c.337+60188A>T (n.337+60188A>T) c.634A>T c.1335A>T (p.Lys445Asn) c.1254A>T (p.Lys418Asn) c.1557A>T (p.Lys519Asn) c.1164A>T (p.Lys388Asn) c.1251A>T (p.Lys417Asn) c.1410A>T (p.Lys470Asn) c.1179A>T (p.Lys393Asn) | |
12 | g.66455431T>C | CA480573903 | GRIP1 | c.1401A>G (p.Lys467=) c.1332A>G (p.Lys444=) c.1176A>G (p.Lys392=) c.438A>G c.874+7493A>G (n.874+7493A>G) c.776A>G c.1008A>G (p.Lys336=) c.337+60188A>G (n.337+60188A>G) c.634A>G c.1335A>G (p.Lys445=) c.1254A>G (p.Lys418=) c.1557A>G (p.Lys519=) c.1164A>G (p.Lys388=) c.1251A>G (p.Lys417=) c.1410A>G (p.Lys470=) c.1179A>G (p.Lys393=) | ClinVar |
12 | g.66455431T>G | CA385625772 | GRIP1 | c.1401A>C (p.Lys467Asn) c.1332A>C (p.Lys444Asn) c.1176A>C (p.Lys392Asn) c.438A>C c.874+7493A>C (n.874+7493A>C) c.776A>C c.1008A>C (p.Lys336Asn) c.337+60188A>C (n.337+60188A>C) c.634A>C c.1335A>C (p.Lys445Asn) c.1254A>C (p.Lys418Asn) c.1557A>C (p.Lys519Asn) c.1164A>C (p.Lys388Asn) c.1251A>C (p.Lys417Asn) c.1410A>C (p.Lys470Asn) c.1179A>C (p.Lys393Asn) | |
12 | g.66455432T>A | CA385625774 | GRIP1 | c.1400A>T (p.Lys467Ile) c.1331A>T (p.Lys444Ile) c.1175A>T (p.Lys392Ile) c.437A>T c.874+7492A>T (n.874+7492A>T) c.775A>T c.1007A>T (p.Lys336Ile) c.337+60187A>T (n.337+60187A>T) c.633A>T c.1334A>T (p.Lys445Ile) c.1253A>T (p.Lys418Ile) c.1556A>T (p.Lys519Ile) c.1163A>T (p.Lys388Ile) c.1250A>T (p.Lys417Ile) c.1409A>T (p.Lys470Ile) c.1178A>T (p.Lys393Ile) | |
12 | g.66455432T>C | CA385625778 | GRIP1 | c.1400A>G (p.Lys467Arg) c.1331A>G (p.Lys444Arg) c.1175A>G (p.Lys392Arg) c.437A>G c.874+7492A>G (n.874+7492A>G) c.775A>G c.1007A>G (p.Lys336Arg) c.337+60187A>G (n.337+60187A>G) c.633A>G c.1334A>G (p.Lys445Arg) c.1253A>G (p.Lys418Arg) c.1556A>G (p.Lys519Arg) c.1163A>G (p.Lys388Arg) c.1250A>G (p.Lys417Arg) c.1409A>G (p.Lys470Arg) c.1178A>G (p.Lys393Arg) | |
12 | g.66455432T>G | CA385625779 | GRIP1 | c.1400A>C (p.Lys467Thr) c.1331A>C (p.Lys444Thr) c.1175A>C (p.Lys392Thr) c.437A>C c.874+7492A>C (n.874+7492A>C) c.775A>C c.1007A>C (p.Lys336Thr) c.337+60187A>C (n.337+60187A>C) c.633A>C c.1334A>C (p.Lys445Thr) c.1253A>C (p.Lys418Thr) c.1556A>C (p.Lys519Thr) c.1163A>C (p.Lys388Thr) c.1250A>C (p.Lys417Thr) c.1409A>C (p.Lys470Thr) c.1178A>C (p.Lys393Thr) | |
12 | g.66455433T>A | CA385625781 | GRIP1 | c.1399A>T (p.Lys467Ter) c.1330A>T (p.Lys444Ter) c.1174A>T (p.Lys392Ter) c.436A>T c.874+7491A>T (n.874+7491A>T) c.774A>T c.1006A>T (p.Lys336Ter) c.337+60186A>T (n.337+60186A>T) c.632A>T c.1333A>T (p.Lys445Ter) c.1252A>T (p.Lys418Ter) c.1555A>T (p.Lys519Ter) c.1162A>T (p.Lys388Ter) c.1249A>T (p.Lys417Ter) c.1408A>T (p.Lys470Ter) c.1177A>T (p.Lys393Ter) | |
12 | g.66455433T>C | CA385625782 | GRIP1 | c.1399A>G (p.Lys467Glu) c.1330A>G (p.Lys444Glu) c.1174A>G (p.Lys392Glu) c.436A>G c.874+7491A>G (n.874+7491A>G) c.774A>G c.1006A>G (p.Lys336Glu) c.337+60186A>G (n.337+60186A>G) c.632A>G c.1333A>G (p.Lys445Glu) c.1252A>G (p.Lys418Glu) c.1555A>G (p.Lys519Glu) c.1162A>G (p.Lys388Glu) c.1249A>G (p.Lys417Glu) c.1408A>G (p.Lys470Glu) c.1177A>G (p.Lys393Glu) | |
12 | g.66455433T>G | CA385625784 | GRIP1 | c.1399A>C (p.Lys467Gln) c.1330A>C (p.Lys444Gln) c.1174A>C (p.Lys392Gln) c.436A>C c.874+7491A>C (n.874+7491A>C) c.774A>C c.1006A>C (p.Lys336Gln) c.337+60186A>C (n.337+60186A>C) c.632A>C c.1333A>C (p.Lys445Gln) c.1252A>C (p.Lys418Gln) c.1555A>C (p.Lys519Gln) c.1162A>C (p.Lys388Gln) c.1249A>C (p.Lys417Gln) c.1408A>C (p.Lys470Gln) c.1177A>C (p.Lys393Gln) | |
12 | g.66455434C>A | CA480573906 | GRIP1 | c.1398G>T (p.Leu466=) c.1329G>T (p.Leu443=) c.1173G>T (p.Leu391=) c.435G>T c.874+7490G>T (n.874+7490G>T) c.773G>T c.1005G>T (p.Leu335=) c.337+60185G>T (n.337+60185G>T) c.631G>T c.1332G>T (p.Leu444=) c.1251G>T (p.Leu417=) c.1554G>T (p.Leu518=) c.1161G>T (p.Leu387=) c.1248G>T (p.Leu416=) c.1407G>T (p.Leu469=) c.1176G>T (p.Leu392=) | |
12 | g.66455434C>G | CA480573905 | GRIP1 | c.1398G>C (p.Leu466=) c.1329G>C (p.Leu443=) c.1173G>C (p.Leu391=) c.435G>C c.874+7490G>C (n.874+7490G>C) c.773G>C c.1005G>C (p.Leu335=) c.337+60185G>C (n.337+60185G>C) c.631G>C c.1332G>C (p.Leu444=) c.1251G>C (p.Leu417=) c.1554G>C (p.Leu518=) c.1161G>C (p.Leu387=) c.1248G>C (p.Leu416=) c.1407G>C (p.Leu469=) c.1176G>C (p.Leu392=) | |
12 | g.66455434C>T | CA480573904 | GRIP1 | c.1398G>A (p.Leu466=) c.1329G>A (p.Leu443=) c.1173G>A (p.Leu391=) c.435G>A c.874+7490G>A (n.874+7490G>A) c.773G>A c.1005G>A (p.Leu335=) c.337+60185G>A (n.337+60185G>A) c.631G>A c.1332G>A (p.Leu444=) c.1251G>A (p.Leu417=) c.1554G>A (p.Leu518=) c.1161G>A (p.Leu387=) c.1248G>A (p.Leu416=) c.1407G>A (p.Leu469=) c.1176G>A (p.Leu392=) | |
12 | g.66455435A= | CA2043057180 | GRIP1 | c.1397T= (p.Leu466=) c.1328T= (p.Leu443=) c.1172T= (p.Leu391=) c.434T= c.874+7489T= (n.874+7489T=) c.772T= c.1004T= (p.Leu335=) c.337+60184T= (n.337+60184T=) c.630T= c.1331T= (p.Leu444=) c.1250T= (p.Leu417=) c.1553T= (p.Leu518=) c.1160T= (p.Leu387=) c.1247T= (p.Leu416=) c.1406T= (p.Leu469=) c.1175T= (p.Leu392=) | |
12 | g.66455435A>C | CA385625787 | GRIP1 | c.1397T>G (p.Leu466Arg) c.1328T>G (p.Leu443Arg) c.1172T>G (p.Leu391Arg) c.434T>G c.874+7489T>G (n.874+7489T>G) c.772T>G c.1004T>G (p.Leu335Arg) c.337+60184T>G (n.337+60184T>G) c.630T>G c.1331T>G (p.Leu444Arg) c.1250T>G (p.Leu417Arg) c.1553T>G (p.Leu518Arg) c.1160T>G (p.Leu387Arg) c.1247T>G (p.Leu416Arg) c.1406T>G (p.Leu469Arg) c.1175T>G (p.Leu392Arg) | |
12 | g.66455435A>G | CA385625789 | GRIP1 | c.1397T>C (p.Leu466Pro) c.1328T>C (p.Leu443Pro) c.1172T>C (p.Leu391Pro) c.434T>C c.874+7489T>C (n.874+7489T>C) c.772T>C c.1004T>C (p.Leu335Pro) c.337+60184T>C (n.337+60184T>C) c.630T>C c.1331T>C (p.Leu444Pro) c.1250T>C (p.Leu417Pro) c.1553T>C (p.Leu518Pro) c.1160T>C (p.Leu387Pro) c.1247T>C (p.Leu416Pro) c.1406T>C (p.Leu469Pro) c.1175T>C (p.Leu392Pro) | dbSNP |
12 | g.66455435A>T | CA385625791 | GRIP1 | c.1397T>A (p.Leu466Gln) c.1328T>A (p.Leu443Gln) c.1172T>A (p.Leu391Gln) c.434T>A c.874+7489T>A (n.874+7489T>A) c.772T>A c.1004T>A (p.Leu335Gln) c.337+60184T>A (n.337+60184T>A) c.630T>A c.1331T>A (p.Leu444Gln) c.1250T>A (p.Leu417Gln) c.1553T>A (p.Leu518Gln) c.1160T>A (p.Leu387Gln) c.1247T>A (p.Leu416Gln) c.1406T>A (p.Leu469Gln) c.1175T>A (p.Leu392Gln) | |
12 | g.66455436G>A | CA480573907 | GRIP1 | c.1396C>T (p.Leu466=) c.1327C>T (p.Leu443=) c.1171C>T (p.Leu391=) c.433C>T c.874+7488C>T (n.874+7488C>T) c.771C>T c.1003C>T (p.Leu335=) c.337+60183C>T (n.337+60183C>T) c.629C>T c.1330C>T (p.Leu444=) c.1249C>T (p.Leu417=) c.1552C>T (p.Leu518=) c.1159C>T (p.Leu387=) c.1246C>T (p.Leu416=) c.1405C>T (p.Leu469=) c.1174C>T (p.Leu392=) | ClinVar |
12 | g.66455436G>C | CA385625797 | GRIP1 | c.1396C>G (p.Leu466Val) c.1327C>G (p.Leu443Val) c.1171C>G (p.Leu391Val) c.433C>G c.874+7488C>G (n.874+7488C>G) c.771C>G c.1003C>G (p.Leu335Val) c.337+60183C>G (n.337+60183C>G) c.629C>G c.1330C>G (p.Leu444Val) c.1249C>G (p.Leu417Val) c.1552C>G (p.Leu518Val) c.1159C>G (p.Leu387Val) c.1246C>G (p.Leu416Val) c.1405C>G (p.Leu469Val) c.1174C>G (p.Leu392Val) | |
12 | g.66455436G>T | CA385625794 | GRIP1 | c.1396C>A (p.Leu466Met) c.1327C>A (p.Leu443Met) c.1171C>A (p.Leu391Met) c.433C>A c.874+7488C>A (n.874+7488C>A) c.771C>A c.1003C>A (p.Leu335Met) c.337+60183C>A (n.337+60183C>A) c.629C>A c.1330C>A (p.Leu444Met) c.1249C>A (p.Leu417Met) c.1552C>A (p.Leu518Met) c.1159C>A (p.Leu387Met) c.1246C>A (p.Leu416Met) c.1405C>A (p.Leu469Met) c.1174C>A (p.Leu392Met) | gnomAD v4 |
12 | g.66455437T>A | CA385625800 | GRIP1 | c.1395A>T (p.Arg465Ser) c.1326A>T (p.Arg442Ser) c.1170A>T (p.Arg390Ser) c.432A>T c.874+7487A>T (n.874+7487A>T) c.770A>T c.1002A>T (p.Arg334Ser) c.337+60182A>T (n.337+60182A>T) c.628A>T c.1329A>T (p.Arg443Ser) c.1248A>T (p.Arg416Ser) c.1551A>T (p.Arg517Ser) c.1158A>T (p.Arg386Ser) c.1245A>T (p.Arg415Ser) c.1404A>T (p.Arg468Ser) c.1173A>T (p.Arg391Ser) | |
12 | g.66455437T>C | CA480573908 | GRIP1 | c.1395A>G (p.Arg465=) c.1326A>G (p.Arg442=) c.1170A>G (p.Arg390=) c.432A>G c.874+7487A>G (n.874+7487A>G) c.770A>G c.1002A>G (p.Arg334=) c.337+60182A>G (n.337+60182A>G) c.628A>G c.1329A>G (p.Arg443=) c.1248A>G (p.Arg416=) c.1551A>G (p.Arg517=) c.1158A>G (p.Arg386=) c.1245A>G (p.Arg415=) c.1404A>G (p.Arg468=) c.1173A>G (p.Arg391=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455437T>G | CA385625801 | GRIP1 | c.1395A>C (p.Arg465Ser) c.1326A>C (p.Arg442Ser) c.1170A>C (p.Arg390Ser) c.432A>C c.874+7487A>C (n.874+7487A>C) c.770A>C c.1002A>C (p.Arg334Ser) c.337+60182A>C (n.337+60182A>C) c.628A>C c.1329A>C (p.Arg443Ser) c.1248A>C (p.Arg416Ser) c.1551A>C (p.Arg517Ser) c.1158A>C (p.Arg386Ser) c.1245A>C (p.Arg415Ser) c.1404A>C (p.Arg468Ser) c.1173A>C (p.Arg391Ser) | |
12 | g.66455437T= | CA2043057181 | GRIP1 | c.1395A= (p.Arg465=) c.1326A= (p.Arg442=) c.1170A= (p.Arg390=) c.432A= c.874+7487A= (n.874+7487A=) c.770A= c.1002A= (p.Arg334=) c.337+60182A= (n.337+60182A=) c.628A= c.1329A= (p.Arg443=) c.1248A= (p.Arg416=) c.1551A= (p.Arg517=) c.1158A= (p.Arg386=) c.1245A= (p.Arg415=) c.1404A= (p.Arg468=) c.1173A= (p.Arg391=) | |
12 | g.66455438C>A | CA385625802 | GRIP1 | c.1394G>T (p.Arg465Ile) c.1325G>T (p.Arg442Ile) c.1169G>T (p.Arg390Ile) c.431G>T c.874+7486G>T (n.874+7486G>T) c.769G>T c.1001G>T (p.Arg334Ile) c.337+60181G>T (n.337+60181G>T) c.627G>T c.1328G>T (p.Arg443Ile) c.1247G>T (p.Arg416Ile) c.1550G>T (p.Arg517Ile) c.1157G>T (p.Arg386Ile) c.1244G>T (p.Arg415Ile) c.1403G>T (p.Arg468Ile) c.1172G>T (p.Arg391Ile) | |
12 | g.66455438C>G | CA385625803 | GRIP1 | c.1394G>C (p.Arg465Thr) c.1325G>C (p.Arg442Thr) c.1169G>C (p.Arg390Thr) c.431G>C c.874+7486G>C (n.874+7486G>C) c.769G>C c.1001G>C (p.Arg334Thr) c.337+60181G>C (n.337+60181G>C) c.627G>C c.1328G>C (p.Arg443Thr) c.1247G>C (p.Arg416Thr) c.1550G>C (p.Arg517Thr) c.1157G>C (p.Arg386Thr) c.1244G>C (p.Arg415Thr) c.1403G>C (p.Arg468Thr) c.1172G>C (p.Arg391Thr) | |
12 | g.66455438C>T | CA385625804 | GRIP1 | c.1394G>A (p.Arg465Lys) c.1325G>A (p.Arg442Lys) c.1169G>A (p.Arg390Lys) c.431G>A c.874+7486G>A (n.874+7486G>A) c.769G>A c.1001G>A (p.Arg334Lys) c.337+60181G>A (n.337+60181G>A) c.627G>A c.1328G>A (p.Arg443Lys) c.1247G>A (p.Arg416Lys) c.1550G>A (p.Arg517Lys) c.1157G>A (p.Arg386Lys) c.1244G>A (p.Arg415Lys) c.1403G>A (p.Arg468Lys) c.1172G>A (p.Arg391Lys) | |
12 | g.66455439T>A | CA385625805 | GRIP1 | c.1393A>T (p.Arg465Ter) c.1324A>T (p.Arg442Ter) c.1168A>T (p.Arg390Ter) c.430A>T c.874+7485A>T (n.874+7485A>T) c.768A>T c.1000A>T (p.Arg334Ter) c.337+60180A>T (n.337+60180A>T) c.626A>T c.1327A>T (p.Arg443Ter) c.1246A>T (p.Arg416Ter) c.1549A>T (p.Arg517Ter) c.1156A>T (p.Arg386Ter) c.1243A>T (p.Arg415Ter) c.1402A>T (p.Arg468Ter) c.1171A>T (p.Arg391Ter) | |
12 | g.66455439T>C | CA385625807 | GRIP1 | c.1393A>G (p.Arg465Gly) c.1324A>G (p.Arg442Gly) c.1168A>G (p.Arg390Gly) c.430A>G c.874+7485A>G (n.874+7485A>G) c.768A>G c.1000A>G (p.Arg334Gly) c.337+60180A>G (n.337+60180A>G) c.626A>G c.1327A>G (p.Arg443Gly) c.1246A>G (p.Arg416Gly) c.1549A>G (p.Arg517Gly) c.1156A>G (p.Arg386Gly) c.1243A>G (p.Arg415Gly) c.1402A>G (p.Arg468Gly) c.1171A>G (p.Arg391Gly) | |
12 | g.66455439T>G | CA480573909 | GRIP1 | c.1393A>C (p.Arg465=) c.1324A>C (p.Arg442=) c.1168A>C (p.Arg390=) c.430A>C c.874+7485A>C (n.874+7485A>C) c.768A>C c.1000A>C (p.Arg334=) c.337+60180A>C (n.337+60180A>C) c.626A>C c.1327A>C (p.Arg443=) c.1246A>C (p.Arg416=) c.1549A>C (p.Arg517=) c.1156A>C (p.Arg386=) c.1243A>C (p.Arg415=) c.1402A>C (p.Arg468=) c.1171A>C (p.Arg391=) | |
12 | g.66455440C>A | CA385625809 | GRIP1 | c.1392G>T (p.Arg464Ser) c.1323G>T (p.Arg441Ser) c.1167G>T (p.Arg389Ser) c.429G>T c.874+7484G>T (n.874+7484G>T) c.767G>T c.999G>T (p.Arg333Ser) c.337+60179G>T (n.337+60179G>T) c.625G>T c.1326G>T (p.Arg442Ser) c.1245G>T (p.Arg415Ser) c.1548G>T (p.Arg516Ser) c.1155G>T (p.Arg385Ser) c.1242G>T (p.Arg414Ser) c.1401G>T (p.Arg467Ser) c.1170G>T (p.Arg390Ser) | |
12 | g.66455440C= | CA2043057182 | GRIP1 | c.1392G= (p.Arg464=) c.1323G= (p.Arg441=) c.1167G= (p.Arg389=) c.429G= c.874+7484G= (n.874+7484G=) c.767G= c.999G= (p.Arg333=) c.337+60179G= (n.337+60179G=) c.625G= c.1326G= (p.Arg442=) c.1245G= (p.Arg415=) c.1548G= (p.Arg516=) c.1155G= (p.Arg385=) c.1242G= (p.Arg414=) c.1401G= (p.Arg467=) c.1170G= (p.Arg390=) | |
12 | g.66455440C>G | CA385625810 | GRIP1 | c.1392G>C (p.Arg464Ser) c.1323G>C (p.Arg441Ser) c.1167G>C (p.Arg389Ser) c.429G>C c.874+7484G>C (n.874+7484G>C) c.767G>C c.999G>C (p.Arg333Ser) c.337+60179G>C (n.337+60179G>C) c.625G>C c.1326G>C (p.Arg442Ser) c.1245G>C (p.Arg415Ser) c.1548G>C (p.Arg516Ser) c.1155G>C (p.Arg385Ser) c.1242G>C (p.Arg414Ser) c.1401G>C (p.Arg467Ser) c.1170G>C (p.Arg390Ser) | |
12 | g.66455440C>T | CA480573910 | GRIP1 | c.1392G>A (p.Arg464=) c.1323G>A (p.Arg441=) c.1167G>A (p.Arg389=) c.429G>A c.874+7484G>A (n.874+7484G>A) c.767G>A c.999G>A (p.Arg333=) c.337+60179G>A (n.337+60179G>A) c.625G>A c.1326G>A (p.Arg442=) c.1245G>A (p.Arg415=) c.1548G>A (p.Arg516=) c.1155G>A (p.Arg385=) c.1242G>A (p.Arg414=) c.1401G>A (p.Arg467=) c.1170G>A (p.Arg390=) | dbSNP gnomAD v4 |
12 | g.66455441C>A | CA385625811 | GRIP1 | c.1391G>T (p.Arg464Met) c.1322G>T (p.Arg441Met) c.1166G>T (p.Arg389Met) c.428G>T c.874+7483G>T (n.874+7483G>T) c.766G>T c.998G>T (p.Arg333Met) c.337+60178G>T (n.337+60178G>T) c.624G>T c.1325G>T (p.Arg442Met) c.1244G>T (p.Arg415Met) c.1547G>T (p.Arg516Met) c.1154G>T (p.Arg385Met) c.1241G>T (p.Arg414Met) c.1400G>T (p.Arg467Met) c.1169G>T (p.Arg390Met) | |
12 | g.66455441C= | CA2043057183 | GRIP1 | c.1391G= (p.Arg464=) c.1322G= (p.Arg441=) c.1166G= (p.Arg389=) c.428G= c.874+7483G= (n.874+7483G=) c.766G= c.998G= (p.Arg333=) c.337+60178G= (n.337+60178G=) c.624G= c.1325G= (p.Arg442=) c.1244G= (p.Arg415=) c.1547G= (p.Arg516=) c.1154G= (p.Arg385=) c.1241G= (p.Arg414=) c.1400G= (p.Arg467=) c.1169G= (p.Arg390=) | |
12 | g.66455441C>G | CA385625812 | GRIP1 | c.1391G>C (p.Arg464Thr) c.1322G>C (p.Arg441Thr) c.1166G>C (p.Arg389Thr) c.428G>C c.874+7483G>C (n.874+7483G>C) c.766G>C c.998G>C (p.Arg333Thr) c.337+60178G>C (n.337+60178G>C) c.624G>C c.1325G>C (p.Arg442Thr) c.1244G>C (p.Arg415Thr) c.1547G>C (p.Arg516Thr) c.1154G>C (p.Arg385Thr) c.1241G>C (p.Arg414Thr) c.1400G>C (p.Arg467Thr) c.1169G>C (p.Arg390Thr) | |
12 | g.66455441C>T | CA385625813 | GRIP1 | c.1391G>A (p.Arg464Lys) c.1322G>A (p.Arg441Lys) c.1166G>A (p.Arg389Lys) c.428G>A c.874+7483G>A (n.874+7483G>A) c.766G>A c.998G>A (p.Arg333Lys) c.337+60178G>A (n.337+60178G>A) c.624G>A c.1325G>A (p.Arg442Lys) c.1244G>A (p.Arg415Lys) c.1547G>A (p.Arg516Lys) c.1154G>A (p.Arg385Lys) c.1241G>A (p.Arg414Lys) c.1400G>A (p.Arg467Lys) c.1169G>A (p.Arg390Lys) | dbSNP |
12 | g.66455442T>A | CA385625819 | GRIP1 | c.1390A>T (p.Arg464Trp) c.1321A>T (p.Arg441Trp) c.1165A>T (p.Arg389Trp) c.427A>T c.874+7482A>T (n.874+7482A>T) c.765A>T c.997A>T (p.Arg333Trp) c.337+60177A>T (n.337+60177A>T) c.623A>T c.1324A>T (p.Arg442Trp) c.1243A>T (p.Arg415Trp) c.1546A>T (p.Arg516Trp) c.1153A>T (p.Arg385Trp) c.1240A>T (p.Arg414Trp) c.1399A>T (p.Arg467Trp) c.1168A>T (p.Arg390Trp) | |
12 | g.66455442T>C | CA385625815 | GRIP1 | c.1390A>G (p.Arg464Gly) c.1321A>G (p.Arg441Gly) c.1165A>G (p.Arg389Gly) c.427A>G c.874+7482A>G (n.874+7482A>G) c.765A>G c.997A>G (p.Arg333Gly) c.337+60177A>G (n.337+60177A>G) c.623A>G c.1324A>G (p.Arg442Gly) c.1243A>G (p.Arg415Gly) c.1546A>G (p.Arg516Gly) c.1153A>G (p.Arg385Gly) c.1240A>G (p.Arg414Gly) c.1399A>G (p.Arg467Gly) c.1168A>G (p.Arg390Gly) | |
12 | g.66455442T>G | CA6674414 | GRIP1 | c.1390A>C (p.Arg464=) c.1321A>C (p.Arg441=) c.1165A>C (p.Arg389=) c.427A>C c.874+7482A>C (n.874+7482A>C) c.765A>C c.997A>C (p.Arg333=) c.337+60177A>C (n.337+60177A>C) c.623A>C c.1324A>C (p.Arg442=) c.1243A>C (p.Arg415=) c.1546A>C (p.Arg516=) c.1153A>C (p.Arg385=) c.1240A>C (p.Arg414=) c.1399A>C (p.Arg467=) c.1168A>C (p.Arg390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.66455442T= | CA2043057184 | GRIP1 | c.1390A= (p.Arg464=) c.1321A= (p.Arg441=) c.1165A= (p.Arg389=) c.427A= c.874+7482A= (n.874+7482A=) c.765A= c.997A= (p.Arg333=) c.337+60177A= (n.337+60177A=) c.623A= c.1324A= (p.Arg442=) c.1243A= (p.Arg415=) c.1546A= (p.Arg516=) c.1153A= (p.Arg385=) c.1240A= (p.Arg414=) c.1399A= (p.Arg467=) c.1168A= (p.Arg390=) | |
12 | g.66455443C>A | CA385625822 | GRIP1 | c.1389G>T (p.Arg463Ser) c.1320G>T (p.Arg440Ser) c.1164G>T (p.Arg388Ser) c.426G>T c.874+7481G>T (n.874+7481G>T) c.764G>T c.996G>T (p.Arg332Ser) c.337+60176G>T (n.337+60176G>T) c.622G>T c.1323G>T (p.Arg441Ser) c.1242G>T (p.Arg414Ser) c.1545G>T (p.Arg515Ser) c.1152G>T (p.Arg384Ser) c.1239G>T (p.Arg413Ser) c.1398G>T (p.Arg466Ser) c.1167G>T (p.Arg389Ser) | |
12 | g.66455443C>G | CA385625825 | GRIP1 | c.1389G>C (p.Arg463Ser) c.1320G>C (p.Arg440Ser) c.1164G>C (p.Arg388Ser) c.426G>C c.874+7481G>C (n.874+7481G>C) c.764G>C c.996G>C (p.Arg332Ser) c.337+60176G>C (n.337+60176G>C) c.622G>C c.1323G>C (p.Arg441Ser) c.1242G>C (p.Arg414Ser) c.1545G>C (p.Arg515Ser) c.1152G>C (p.Arg384Ser) c.1239G>C (p.Arg413Ser) c.1398G>C (p.Arg466Ser) c.1167G>C (p.Arg389Ser) | |
12 | g.66455443C>T | CA480573911 | GRIP1 | c.1389G>A (p.Arg463=) c.1320G>A (p.Arg440=) c.1164G>A (p.Arg388=) c.426G>A c.874+7481G>A (n.874+7481G>A) c.764G>A c.996G>A (p.Arg332=) c.337+60176G>A (n.337+60176G>A) c.622G>A c.1323G>A (p.Arg441=) c.1242G>A (p.Arg414=) c.1545G>A (p.Arg515=) c.1152G>A (p.Arg384=) c.1239G>A (p.Arg413=) c.1398G>A (p.Arg466=) c.1167G>A (p.Arg389=) | |
12 | g.66455443_66455444insAAGACCGTAAGATTCAAGTTTTTCCACCAGGTCCATTTCCCATGCGTTGAACTCCTGACCTTCAGTTATCTTTTTCAGACTGCCC | CA2548432793 | GRIP1 | c.1389_1390insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg464GlyfsTer?) c.1320_1321insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg441GlyfsTer?) c.1164_1165insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg389GlyfsTer?) c.426_427insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG c.874+7481_874+7482insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (n.874+7481_874+7482insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG) c.764_765insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG c.996_997insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg333GlyfsTer?) c.337+60176_337+60177insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (n.337+60176_337+60177insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG) c.622_623insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG c.1323_1324insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg442GlyfsTer?) c.1242_1243insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg415GlyfsTer?) c.1545_1546insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg516GlyfsTer?) c.1152_1153insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg385GlyfsTer?) c.1239_1240insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg414GlyfsTer?) c.1398_1399insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg467GlyfsTer?) c.1167_1168insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg390GlyfsTer?) | |
12 | g.66455444C>A | CA385625829 | GRIP1 | c.1388G>T (p.Arg463Met) c.1319G>T (p.Arg440Met) c.1163G>T (p.Arg388Met) c.425G>T c.874+7480G>T (n.874+7480G>T) c.763G>T c.995G>T (p.Arg332Met) c.337+60175G>T (n.337+60175G>T) c.621G>T c.1322G>T (p.Arg441Met) c.1241G>T (p.Arg414Met) c.1544G>T (p.Arg515Met) c.1151G>T (p.Arg384Met) c.1238G>T (p.Arg413Met) c.1397G>T (p.Arg466Met) c.1166G>T (p.Arg389Met) | |
12 | g.66455444C>G | CA385625832 | GRIP1 | c.1388G>C (p.Arg463Thr) c.1319G>C (p.Arg440Thr) c.1163G>C (p.Arg388Thr) c.425G>C c.874+7480G>C (n.874+7480G>C) c.763G>C c.995G>C (p.Arg332Thr) c.337+60175G>C (n.337+60175G>C) c.621G>C c.1322G>C (p.Arg441Thr) c.1241G>C (p.Arg414Thr) c.1544G>C (p.Arg515Thr) c.1151G>C (p.Arg384Thr) c.1238G>C (p.Arg413Thr) c.1397G>C (p.Arg466Thr) c.1166G>C (p.Arg389Thr) | |
12 | g.66455444C>T | CA385625834 | GRIP1 | c.1388G>A (p.Arg463Lys) c.1319G>A (p.Arg440Lys) c.1163G>A (p.Arg388Lys) c.425G>A c.874+7480G>A (n.874+7480G>A) c.763G>A c.995G>A (p.Arg332Lys) c.337+60175G>A (n.337+60175G>A) c.621G>A c.1322G>A (p.Arg441Lys) c.1241G>A (p.Arg414Lys) c.1544G>A (p.Arg515Lys) c.1151G>A (p.Arg384Lys) c.1238G>A (p.Arg413Lys) c.1397G>A (p.Arg466Lys) c.1166G>A (p.Arg389Lys) | |
12 | g.66455445T>A | CA385625836 | GRIP1 | c.1387A>T (p.Arg463Trp) c.1318A>T (p.Arg440Trp) c.1162A>T (p.Arg388Trp) c.424A>T c.874+7479A>T (n.874+7479A>T) c.762A>T c.994A>T (p.Arg332Trp) c.337+60174A>T (n.337+60174A>T) c.620A>T c.1321A>T (p.Arg441Trp) c.1240A>T (p.Arg414Trp) c.1543A>T (p.Arg515Trp) c.1150A>T (p.Arg384Trp) c.1237A>T (p.Arg413Trp) c.1396A>T (p.Arg466Trp) c.1165A>T (p.Arg389Trp) | gnomAD v4 |
12 | g.66455445T>C | CA385625839 | GRIP1 | c.1387A>G (p.Arg463Gly) c.1318A>G (p.Arg440Gly) c.1162A>G (p.Arg388Gly) c.424A>G c.874+7479A>G (n.874+7479A>G) c.762A>G c.994A>G (p.Arg332Gly) c.337+60174A>G (n.337+60174A>G) c.620A>G c.1321A>G (p.Arg441Gly) c.1240A>G (p.Arg414Gly) c.1543A>G (p.Arg515Gly) c.1150A>G (p.Arg384Gly) c.1237A>G (p.Arg413Gly) c.1396A>G (p.Arg466Gly) c.1165A>G (p.Arg389Gly) | gnomAD v4 |
12 | g.66455445T>G | CA480573912 | GRIP1 | c.1387A>C (p.Arg463=) c.1318A>C (p.Arg440=) c.1162A>C (p.Arg388=) c.424A>C c.874+7479A>C (n.874+7479A>C) c.762A>C c.994A>C (p.Arg332=) c.337+60174A>C (n.337+60174A>C) c.620A>C c.1321A>C (p.Arg441=) c.1240A>C (p.Arg414=) c.1543A>C (p.Arg515=) c.1150A>C (p.Arg384=) c.1237A>C (p.Arg413=) c.1396A>C (p.Arg466=) c.1165A>C (p.Arg389=) | |
12 | g.66455446C>A | CA385625842 | GRIP1 | c.1386G>T (p.Met462Ile) c.1317G>T (p.Met439Ile) c.1161G>T (p.Met387Ile) c.423G>T c.874+7478G>T (n.874+7478G>T) c.761G>T c.993G>T (p.Met331Ile) c.337+60173G>T (n.337+60173G>T) c.619G>T c.1320G>T (p.Met440Ile) c.1239G>T (p.Met413Ile) c.1542G>T (p.Met514Ile) c.1149G>T (p.Met383Ile) c.1236G>T (p.Met412Ile) c.1395G>T (p.Met465Ile) c.1164G>T (p.Met388Ile) | |
12 | g.66455446C>G | CA385625845 | GRIP1 | c.1386G>C (p.Met462Ile) c.1317G>C (p.Met439Ile) c.1161G>C (p.Met387Ile) c.423G>C c.874+7478G>C (n.874+7478G>C) c.761G>C c.993G>C (p.Met331Ile) c.337+60173G>C (n.337+60173G>C) c.619G>C c.1320G>C (p.Met440Ile) c.1239G>C (p.Met413Ile) c.1542G>C (p.Met514Ile) c.1149G>C (p.Met383Ile) c.1236G>C (p.Met412Ile) c.1395G>C (p.Met465Ile) c.1164G>C (p.Met388Ile) | |
12 | g.66455446C>T | CA385625846 | GRIP1 | c.1386G>A (p.Met462Ile) c.1317G>A (p.Met439Ile) c.1161G>A (p.Met387Ile) c.423G>A c.874+7478G>A (n.874+7478G>A) c.761G>A c.993G>A (p.Met331Ile) c.337+60173G>A (n.337+60173G>A) c.619G>A c.1320G>A (p.Met440Ile) c.1239G>A (p.Met413Ile) c.1542G>A (p.Met514Ile) c.1149G>A (p.Met383Ile) c.1236G>A (p.Met412Ile) c.1395G>A (p.Met465Ile) c.1164G>A (p.Met388Ile) | gnomAD v4 |
12 | g.66455447A>C | CA385625849 | GRIP1 | c.1385T>G (p.Met462Arg) c.1316T>G (p.Met439Arg) c.1160T>G (p.Met387Arg) c.422T>G c.874+7477T>G (n.874+7477T>G) c.760T>G c.992T>G (p.Met331Arg) c.337+60172T>G (n.337+60172T>G) c.618T>G c.1319T>G (p.Met440Arg) c.1238T>G (p.Met413Arg) c.1541T>G (p.Met514Arg) c.1148T>G (p.Met383Arg) c.1235T>G (p.Met412Arg) c.1394T>G (p.Met465Arg) c.1163T>G (p.Met388Arg) | |
12 | g.66455447A>G | CA385625852 | GRIP1 | c.1385T>C (p.Met462Thr) c.1316T>C (p.Met439Thr) c.1160T>C (p.Met387Thr) c.422T>C c.874+7477T>C (n.874+7477T>C) c.760T>C c.992T>C (p.Met331Thr) c.337+60172T>C (n.337+60172T>C) c.618T>C c.1319T>C (p.Met440Thr) c.1238T>C (p.Met413Thr) c.1541T>C (p.Met514Thr) c.1148T>C (p.Met383Thr) c.1235T>C (p.Met412Thr) c.1394T>C (p.Met465Thr) c.1163T>C (p.Met388Thr) | |
12 | g.66455447A>T | CA385625853 | GRIP1 | c.1385T>A (p.Met462Lys) c.1316T>A (p.Met439Lys) c.1160T>A (p.Met387Lys) c.422T>A c.874+7477T>A (n.874+7477T>A) c.760T>A c.992T>A (p.Met331Lys) c.337+60172T>A (n.337+60172T>A) c.618T>A c.1319T>A (p.Met440Lys) c.1238T>A (p.Met413Lys) c.1541T>A (p.Met514Lys) c.1148T>A (p.Met383Lys) c.1235T>A (p.Met412Lys) c.1394T>A (p.Met465Lys) c.1163T>A (p.Met388Lys) | |
12 | g.66455448T>A | CA385625863 | GRIP1 | c.1384A>T (p.Met462Leu) c.1315A>T (p.Met439Leu) c.1159A>T (p.Met387Leu) c.421A>T c.874+7476A>T (n.874+7476A>T) c.759A>T c.991A>T (p.Met331Leu) c.337+60171A>T (n.337+60171A>T) c.617A>T c.1318A>T (p.Met440Leu) c.1237A>T (p.Met413Leu) c.1540A>T (p.Met514Leu) c.1147A>T (p.Met383Leu) c.1234A>T (p.Met412Leu) c.1393A>T (p.Met465Leu) c.1162A>T (p.Met388Leu) | gnomAD v4 |
12 | g.66455448T>C | CA385625865 | GRIP1 | c.1384A>G (p.Met462Val) c.1315A>G (p.Met439Val) c.1159A>G (p.Met387Val) c.421A>G c.874+7476A>G (n.874+7476A>G) c.759A>G c.991A>G (p.Met331Val) c.337+60171A>G (n.337+60171A>G) c.617A>G c.1318A>G (p.Met440Val) c.1237A>G (p.Met413Val) c.1540A>G (p.Met514Val) c.1147A>G (p.Met383Val) c.1234A>G (p.Met412Val) c.1393A>G (p.Met465Val) c.1162A>G (p.Met388Val) | |
12 | g.66455448T>G | CA385625860 | GRIP1 | c.1384A>C (p.Met462Leu) c.1315A>C (p.Met439Leu) c.1159A>C (p.Met387Leu) c.421A>C c.874+7476A>C (n.874+7476A>C) c.759A>C c.991A>C (p.Met331Leu) c.337+60171A>C (n.337+60171A>C) c.617A>C c.1318A>C (p.Met440Leu) c.1237A>C (p.Met413Leu) c.1540A>C (p.Met514Leu) c.1147A>C (p.Met383Leu) c.1234A>C (p.Met412Leu) c.1393A>C (p.Met465Leu) c.1162A>C (p.Met388Leu) | |
12 | g.66455449C>A | CA385625869 | GRIP1 | c.1383G>T (p.Met461Ile) c.1314G>T (p.Met438Ile) c.1158G>T (p.Met386Ile) c.420G>T c.874+7475G>T (n.874+7475G>T) c.758G>T c.990G>T (p.Met330Ile) c.337+60170G>T (n.337+60170G>T) c.616G>T c.1317G>T (p.Met439Ile) c.1236G>T (p.Met412Ile) c.1539G>T (p.Met513Ile) c.1146G>T (p.Met382Ile) c.1233G>T (p.Met411Ile) c.1392G>T (p.Met464Ile) c.1161G>T (p.Met387Ile) | |
12 | g.66455449C= | CA2043057185 | GRIP1 | c.1383G= (p.Met461=) c.1314G= (p.Met438=) c.1158G= (p.Met386=) c.420G= c.874+7475G= (n.874+7475G=) c.758G= c.990G= (p.Met330=) c.337+60170G= (n.337+60170G=) c.616G= c.1317G= (p.Met439=) c.1236G= (p.Met412=) c.1539G= (p.Met513=) c.1146G= (p.Met382=) c.1233G= (p.Met411=) c.1392G= (p.Met464=) c.1161G= (p.Met387=) | |
12 | g.66455449C>G | CA385625866 | GRIP1 | c.1383G>C (p.Met461Ile) c.1314G>C (p.Met438Ile) c.1158G>C (p.Met386Ile) c.420G>C c.874+7475G>C (n.874+7475G>C) c.758G>C c.990G>C (p.Met330Ile) c.337+60170G>C (n.337+60170G>C) c.616G>C c.1317G>C (p.Met439Ile) c.1236G>C (p.Met412Ile) c.1539G>C (p.Met513Ile) c.1146G>C (p.Met382Ile) c.1233G>C (p.Met411Ile) c.1392G>C (p.Met464Ile) c.1161G>C (p.Met387Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455449C>T | CA385625868 | GRIP1 | c.1383G>A (p.Met461Ile) c.1314G>A (p.Met438Ile) c.1158G>A (p.Met386Ile) c.420G>A c.874+7475G>A (n.874+7475G>A) c.758G>A c.990G>A (p.Met330Ile) c.337+60170G>A (n.337+60170G>A) c.616G>A c.1317G>A (p.Met439Ile) c.1236G>A (p.Met412Ile) c.1539G>A (p.Met513Ile) c.1146G>A (p.Met382Ile) c.1233G>A (p.Met411Ile) c.1392G>A (p.Met464Ile) c.1161G>A (p.Met387Ile) | dbSNP |
12 | g.66455450A= | CA2043057186 | GRIP1 | c.1382T= (p.Met461=) c.1313T= (p.Met438=) c.1157T= (p.Met386=) c.419T= c.874+7474T= (n.874+7474T=) c.757T= c.989T= (p.Met330=) c.337+60169T= (n.337+60169T=) c.615T= c.1316T= (p.Met439=) c.1235T= (p.Met412=) c.1538T= (p.Met513=) c.1145T= (p.Met382=) c.1232T= (p.Met411=) c.1391T= (p.Met464=) c.1160T= (p.Met387=) | |
12 | g.66455450A>C | CA385625870 | GRIP1 | c.1382T>G (p.Met461Arg) c.1313T>G (p.Met438Arg) c.1157T>G (p.Met386Arg) c.419T>G c.874+7474T>G (n.874+7474T>G) c.757T>G c.989T>G (p.Met330Arg) c.337+60169T>G (n.337+60169T>G) c.615T>G c.1316T>G (p.Met439Arg) c.1235T>G (p.Met412Arg) c.1538T>G (p.Met513Arg) c.1145T>G (p.Met382Arg) c.1232T>G (p.Met411Arg) c.1391T>G (p.Met464Arg) c.1160T>G (p.Met387Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455450A>G | CA385625871 | GRIP1 | c.1382T>C (p.Met461Thr) c.1313T>C (p.Met438Thr) c.1157T>C (p.Met386Thr) c.419T>C c.874+7474T>C (n.874+7474T>C) c.757T>C c.989T>C (p.Met330Thr) c.337+60169T>C (n.337+60169T>C) c.615T>C c.1316T>C (p.Met439Thr) c.1235T>C (p.Met412Thr) c.1538T>C (p.Met513Thr) c.1145T>C (p.Met382Thr) c.1232T>C (p.Met411Thr) c.1391T>C (p.Met464Thr) c.1160T>C (p.Met387Thr) | gnomAD v4 |
12 | g.66455450A>T | CA385625872 | GRIP1 | c.1382T>A (p.Met461Lys) c.1313T>A (p.Met438Lys) c.1157T>A (p.Met386Lys) c.419T>A c.874+7474T>A (n.874+7474T>A) c.757T>A c.989T>A (p.Met330Lys) c.337+60169T>A (n.337+60169T>A) c.615T>A c.1316T>A (p.Met439Lys) c.1235T>A (p.Met412Lys) c.1538T>A (p.Met513Lys) c.1145T>A (p.Met382Lys) c.1232T>A (p.Met411Lys) c.1391T>A (p.Met464Lys) c.1160T>A (p.Met387Lys) | |
12 | g.66455451T>A | CA385625874 | GRIP1 | c.1381A>T (p.Met461Leu) c.1312A>T (p.Met438Leu) c.1156A>T (p.Met386Leu) c.418A>T c.874+7473A>T (n.874+7473A>T) c.756A>T c.988A>T (p.Met330Leu) c.337+60168A>T (n.337+60168A>T) c.614A>T c.1315A>T (p.Met439Leu) c.1234A>T (p.Met412Leu) c.1537A>T (p.Met513Leu) c.1144A>T (p.Met382Leu) c.1231A>T (p.Met411Leu) c.1390A>T (p.Met464Leu) c.1159A>T (p.Met387Leu) | |
12 | g.66455451T>C | CA385625877 | GRIP1 | c.1381A>G (p.Met461Val) c.1312A>G (p.Met438Val) c.1156A>G (p.Met386Val) c.418A>G c.874+7473A>G (n.874+7473A>G) c.756A>G c.988A>G (p.Met330Val) c.337+60168A>G (n.337+60168A>G) c.614A>G c.1315A>G (p.Met439Val) c.1234A>G (p.Met412Val) c.1537A>G (p.Met513Val) c.1144A>G (p.Met382Val) c.1231A>G (p.Met411Val) c.1390A>G (p.Met464Val) c.1159A>G (p.Met387Val) | gnomAD v4 |
12 | g.66455451T>G | CA385625879 | GRIP1 | c.1381A>C (p.Met461Leu) c.1312A>C (p.Met438Leu) c.1156A>C (p.Met386Leu) c.418A>C c.874+7473A>C (n.874+7473A>C) c.756A>C c.988A>C (p.Met330Leu) c.337+60168A>C (n.337+60168A>C) c.614A>C c.1315A>C (p.Met439Leu) c.1234A>C (p.Met412Leu) c.1537A>C (p.Met513Leu) c.1144A>C (p.Met382Leu) c.1231A>C (p.Met411Leu) c.1390A>C (p.Met464Leu) c.1159A>C (p.Met387Leu) | |
12 | g.66455452G>A | CA480573913 | GRIP1 | c.1380C>T (p.Thr460=) c.1311C>T (p.Thr437=) c.1155C>T (p.Thr385=) c.417C>T c.874+7472C>T (n.874+7472C>T) c.755C>T c.987C>T (p.Thr329=) c.337+60167C>T (n.337+60167C>T) c.613C>T c.1314C>T (p.Thr438=) c.1233C>T (p.Thr411=) c.1536C>T (p.Thr512=) c.1143C>T (p.Thr381=) c.1230C>T (p.Thr410=) c.1389C>T (p.Thr463=) c.1158C>T (p.Thr386=) | |
12 | g.66455452G>C | CA480573914 | GRIP1 | c.1380C>G (p.Thr460=) c.1311C>G (p.Thr437=) c.1155C>G (p.Thr385=) c.417C>G c.874+7472C>G (n.874+7472C>G) c.755C>G c.987C>G (p.Thr329=) c.337+60167C>G (n.337+60167C>G) c.613C>G c.1314C>G (p.Thr438=) c.1233C>G (p.Thr411=) c.1536C>G (p.Thr512=) c.1143C>G (p.Thr381=) c.1230C>G (p.Thr410=) c.1389C>G (p.Thr463=) c.1158C>G (p.Thr386=) | |
12 | g.66455452G>T | CA480573915 | GRIP1 | c.1380C>A (p.Thr460=) c.1311C>A (p.Thr437=) c.1155C>A (p.Thr385=) c.417C>A c.874+7472C>A (n.874+7472C>A) c.755C>A c.987C>A (p.Thr329=) c.337+60167C>A (n.337+60167C>A) c.613C>A c.1314C>A (p.Thr438=) c.1233C>A (p.Thr411=) c.1536C>A (p.Thr512=) c.1143C>A (p.Thr381=) c.1230C>A (p.Thr410=) c.1389C>A (p.Thr463=) c.1158C>A (p.Thr386=) | |
12 | g.66455453G>A | CA385625880 | GRIP1 | c.1379C>T (p.Thr460Ile) c.1310C>T (p.Thr437Ile) c.1154C>T (p.Thr385Ile) c.416C>T c.874+7471C>T (n.874+7471C>T) c.754C>T c.986C>T (p.Thr329Ile) c.337+60166C>T (n.337+60166C>T) c.612C>T c.1313C>T (p.Thr438Ile) c.1232C>T (p.Thr411Ile) c.1535C>T (p.Thr512Ile) c.1142C>T (p.Thr381Ile) c.1229C>T (p.Thr410Ile) c.1388C>T (p.Thr463Ile) c.1157C>T (p.Thr386Ile) | |
12 | g.66455453G>C | CA385625882 | GRIP1 | c.1379C>G (p.Thr460Ser) c.1310C>G (p.Thr437Ser) c.1154C>G (p.Thr385Ser) c.416C>G c.874+7471C>G (n.874+7471C>G) c.754C>G c.986C>G (p.Thr329Ser) c.337+60166C>G (n.337+60166C>G) c.612C>G c.1313C>G (p.Thr438Ser) c.1232C>G (p.Thr411Ser) c.1535C>G (p.Thr512Ser) c.1142C>G (p.Thr381Ser) c.1229C>G (p.Thr410Ser) c.1388C>G (p.Thr463Ser) c.1157C>G (p.Thr386Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.66455453G= | CA2043057187 | GRIP1 | c.1379C= (p.Thr460=) c.1310C= (p.Thr437=) c.1154C= (p.Thr385=) c.416C= c.874+7471C= (n.874+7471C=) c.754C= c.986C= (p.Thr329=) c.337+60166C= (n.337+60166C=) c.612C= c.1313C= (p.Thr438=) c.1232C= (p.Thr411=) c.1535C= (p.Thr512=) c.1142C= (p.Thr381=) c.1229C= (p.Thr410=) c.1388C= (p.Thr463=) c.1157C= (p.Thr386=) | |
12 | g.66455453G>T | CA385625883 | GRIP1 | c.1379C>A (p.Thr460Asn) c.1310C>A (p.Thr437Asn) c.1154C>A (p.Thr385Asn) c.416C>A c.874+7471C>A (n.874+7471C>A) c.754C>A c.986C>A (p.Thr329Asn) c.337+60166C>A (n.337+60166C>A) c.612C>A c.1313C>A (p.Thr438Asn) c.1232C>A (p.Thr411Asn) c.1535C>A (p.Thr512Asn) c.1142C>A (p.Thr381Asn) c.1229C>A (p.Thr410Asn) c.1388C>A (p.Thr463Asn) c.1157C>A (p.Thr386Asn) | |
12 | g.66455454T>A | CA385625887 | GRIP1 | c.1378A>T (p.Thr460Ser) c.1309A>T (p.Thr437Ser) c.1153A>T (p.Thr385Ser) c.415A>T c.874+7470A>T (n.874+7470A>T) c.753A>T c.985A>T (p.Thr329Ser) c.337+60165A>T (n.337+60165A>T) c.611A>T c.1312A>T (p.Thr438Ser) c.1231A>T (p.Thr411Ser) c.1534A>T (p.Thr512Ser) c.1141A>T (p.Thr381Ser) c.1228A>T (p.Thr410Ser) c.1387A>T (p.Thr463Ser) c.1156A>T (p.Thr386Ser) | |
12 | g.66455454T>C | CA385625885 | GRIP1 | c.1378A>G (p.Thr460Ala) c.1309A>G (p.Thr437Ala) c.1153A>G (p.Thr385Ala) c.415A>G c.874+7470A>G (n.874+7470A>G) c.753A>G c.985A>G (p.Thr329Ala) c.337+60165A>G (n.337+60165A>G) c.611A>G c.1312A>G (p.Thr438Ala) c.1231A>G (p.Thr411Ala) c.1534A>G (p.Thr512Ala) c.1141A>G (p.Thr381Ala) c.1228A>G (p.Thr410Ala) c.1387A>G (p.Thr463Ala) c.1156A>G (p.Thr386Ala) | COSMIC COSMIC |
12 | g.66455454T>G | CA385625884 | GRIP1 | c.1378A>C (p.Thr460Pro) c.1309A>C (p.Thr437Pro) c.1153A>C (p.Thr385Pro) c.415A>C c.874+7470A>C (n.874+7470A>C) c.753A>C c.985A>C (p.Thr329Pro) c.337+60165A>C (n.337+60165A>C) c.611A>C c.1312A>C (p.Thr438Pro) c.1231A>C (p.Thr411Pro) c.1534A>C (p.Thr512Pro) c.1141A>C (p.Thr381Pro) c.1228A>C (p.Thr410Pro) c.1387A>C (p.Thr463Pro) c.1156A>C (p.Thr386Pro) | |
12 | g.66455455T>A | CA480573916 | GRIP1 | c.1377A>T (p.Gly459=) c.1308A>T (p.Gly436=) c.1152A>T (p.Gly384=) c.414A>T c.874+7469A>T (n.874+7469A>T) c.752A>T c.984A>T (p.Gly328=) c.337+60164A>T (n.337+60164A>T) c.610A>T c.1311A>T (p.Gly437=) c.1230A>T (p.Gly410=) c.1533A>T (p.Gly511=) c.1140A>T (p.Gly380=) c.1227A>T (p.Gly409=) c.1386A>T (p.Gly462=) c.1155A>T (p.Gly385=) | |
12 | g.66455455T>C | CA480573917 | GRIP1 | c.1377A>G (p.Gly459=) c.1308A>G (p.Gly436=) c.1152A>G (p.Gly384=) c.414A>G c.874+7469A>G (n.874+7469A>G) c.752A>G c.984A>G (p.Gly328=) c.337+60164A>G (n.337+60164A>G) c.610A>G c.1311A>G (p.Gly437=) c.1230A>G (p.Gly410=) c.1533A>G (p.Gly511=) c.1140A>G (p.Gly380=) c.1227A>G (p.Gly409=) c.1386A>G (p.Gly462=) c.1155A>G (p.Gly385=) | |
12 | g.66455455T>G | CA480573918 | GRIP1 | c.1377A>C (p.Gly459=) c.1308A>C (p.Gly436=) c.1152A>C (p.Gly384=) c.414A>C c.874+7469A>C (n.874+7469A>C) c.752A>C c.984A>C (p.Gly328=) c.337+60164A>C (n.337+60164A>C) c.610A>C c.1311A>C (p.Gly437=) c.1230A>C (p.Gly410=) c.1533A>C (p.Gly511=) c.1140A>C (p.Gly380=) c.1227A>C (p.Gly409=) c.1386A>C (p.Gly462=) c.1155A>C (p.Gly385=) | |
12 | g.66455456C>A | CA385625890 | GRIP1 | c.1376G>T (p.Gly459Val) c.1307G>T (p.Gly436Val) c.1151G>T (p.Gly384Val) c.413G>T c.874+7468G>T (n.874+7468G>T) c.751G>T c.983G>T (p.Gly328Val) c.337+60163G>T (n.337+60163G>T) c.609G>T c.1310G>T (p.Gly437Val) c.1229G>T (p.Gly410Val) c.1532G>T (p.Gly511Val) c.1139G>T (p.Gly380Val) c.1226G>T (p.Gly409Val) c.1385G>T (p.Gly462Val) c.1154G>T (p.Gly385Val) | gnomAD v4 |
12 | g.66455456C= | CA2043057188 | GRIP1 | c.1376G= (p.Gly459=) c.1307G= (p.Gly436=) c.1151G= (p.Gly384=) c.413G= c.874+7468G= (n.874+7468G=) c.751G= c.983G= (p.Gly328=) c.337+60163G= (n.337+60163G=) c.609G= c.1310G= (p.Gly437=) c.1229G= (p.Gly410=) c.1532G= (p.Gly511=) c.1139G= (p.Gly380=) c.1226G= (p.Gly409=) c.1385G= (p.Gly462=) c.1154G= (p.Gly385=) | |
12 | g.66455456C>G | CA385625893 | GRIP1 | c.1376G>C (p.Gly459Ala) c.1307G>C (p.Gly436Ala) c.1151G>C (p.Gly384Ala) c.413G>C c.874+7468G>C (n.874+7468G>C) c.751G>C c.983G>C (p.Gly328Ala) c.337+60163G>C (n.337+60163G>C) c.609G>C c.1310G>C (p.Gly437Ala) c.1229G>C (p.Gly410Ala) c.1532G>C (p.Gly511Ala) c.1139G>C (p.Gly380Ala) c.1226G>C (p.Gly409Ala) c.1385G>C (p.Gly462Ala) c.1154G>C (p.Gly385Ala) | |
12 | g.66455456C>T | CA385625896 | GRIP1 | c.1376G>A (p.Gly459Glu) c.1307G>A (p.Gly436Glu) c.1151G>A (p.Gly384Glu) c.413G>A c.874+7468G>A (n.874+7468G>A) c.751G>A c.983G>A (p.Gly328Glu) c.337+60163G>A (n.337+60163G>A) c.609G>A c.1310G>A (p.Gly437Glu) c.1229G>A (p.Gly410Glu) c.1532G>A (p.Gly511Glu) c.1139G>A (p.Gly380Glu) c.1226G>A (p.Gly409Glu) c.1385G>A (p.Gly462Glu) c.1154G>A (p.Gly385Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455457C>A | CA385625899 | GRIP1 | c.1375G>T (p.Gly459Ter) c.1306G>T (p.Gly436Ter) c.1150G>T (p.Gly384Ter) c.412G>T c.874+7467G>T (n.874+7467G>T) c.750G>T c.982G>T (p.Gly328Ter) c.337+60162G>T (n.337+60162G>T) c.608G>T c.1309G>T (p.Gly437Ter) c.1228G>T (p.Gly410Ter) c.1531G>T (p.Gly511Ter) c.1138G>T (p.Gly380Ter) c.1225G>T (p.Gly409Ter) c.1384G>T (p.Gly462Ter) c.1153G>T (p.Gly385Ter) | |
12 | g.66455457C>G | CA385625901 | GRIP1 | c.1375G>C (p.Gly459Arg) c.1306G>C (p.Gly436Arg) c.1150G>C (p.Gly384Arg) c.412G>C c.874+7467G>C (n.874+7467G>C) c.750G>C c.982G>C (p.Gly328Arg) c.337+60162G>C (n.337+60162G>C) c.608G>C c.1309G>C (p.Gly437Arg) c.1228G>C (p.Gly410Arg) c.1531G>C (p.Gly511Arg) c.1138G>C (p.Gly380Arg) c.1225G>C (p.Gly409Arg) c.1384G>C (p.Gly462Arg) c.1153G>C (p.Gly385Arg) | |
12 | g.66455457C>T | CA385625903 | GRIP1 | c.1375G>A (p.Gly459Arg) c.1306G>A (p.Gly436Arg) c.1150G>A (p.Gly384Arg) c.412G>A c.874+7467G>A (n.874+7467G>A) c.750G>A c.982G>A (p.Gly328Arg) c.337+60162G>A (n.337+60162G>A) c.608G>A c.1309G>A (p.Gly437Arg) c.1228G>A (p.Gly410Arg) c.1531G>A (p.Gly511Arg) c.1138G>A (p.Gly380Arg) c.1225G>A (p.Gly409Arg) c.1384G>A (p.Gly462Arg) c.1153G>A (p.Gly385Arg) | |
12 | g.66455458A>C | CA480573921 | GRIP1 | c.1374T>G (p.Arg458=) c.1305T>G (p.Arg435=) c.1149T>G (p.Arg383=) c.411T>G c.874+7466T>G (n.874+7466T>G) c.749T>G c.981T>G (p.Arg327=) c.337+60161T>G (n.337+60161T>G) c.607T>G c.1308T>G (p.Arg436=) c.1227T>G (p.Arg409=) c.1530T>G (p.Arg510=) c.1137T>G (p.Arg379=) c.1224T>G (p.Arg408=) c.1383T>G (p.Arg461=) c.1152T>G (p.Arg384=) | |
12 | g.66455458A>G | CA480573919 | GRIP1 | c.1374T>C (p.Arg458=) c.1305T>C (p.Arg435=) c.1149T>C (p.Arg383=) c.411T>C c.874+7466T>C (n.874+7466T>C) c.749T>C c.981T>C (p.Arg327=) c.337+60161T>C (n.337+60161T>C) c.607T>C c.1308T>C (p.Arg436=) c.1227T>C (p.Arg409=) c.1530T>C (p.Arg510=) c.1137T>C (p.Arg379=) c.1224T>C (p.Arg408=) c.1383T>C (p.Arg461=) c.1152T>C (p.Arg384=) | |
12 | g.66455458A>T | CA480573920 | GRIP1 | c.1374T>A (p.Arg458=) c.1305T>A (p.Arg435=) c.1149T>A (p.Arg383=) c.411T>A c.874+7466T>A (n.874+7466T>A) c.749T>A c.981T>A (p.Arg327=) c.337+60161T>A (n.337+60161T>A) c.607T>A c.1308T>A (p.Arg436=) c.1227T>A (p.Arg409=) c.1530T>A (p.Arg510=) c.1137T>A (p.Arg379=) c.1224T>A (p.Arg408=) c.1383T>A (p.Arg461=) c.1152T>A (p.Arg384=) | |
12 | g.66455459C>A | CA385625906 | GRIP1 | c.1373G>T (p.Arg458Leu) c.1304G>T (p.Arg435Leu) c.1148G>T (p.Arg383Leu) c.410G>T c.874+7465G>T (n.874+7465G>T) c.748G>T c.980G>T (p.Arg327Leu) c.337+60160G>T (n.337+60160G>T) c.606G>T c.1307G>T (p.Arg436Leu) c.1226G>T (p.Arg409Leu) c.1529G>T (p.Arg510Leu) c.1136G>T (p.Arg379Leu) c.1223G>T (p.Arg408Leu) c.1382G>T (p.Arg461Leu) c.1151G>T (p.Arg384Leu) | dbSNP |
12 | g.66455459C= | CA2043057189 | GRIP1 | c.1373G= (p.Arg458=) c.1304G= (p.Arg435=) c.1148G= (p.Arg383=) c.410G= c.874+7465G= (n.874+7465G=) c.748G= c.980G= (p.Arg327=) c.337+60160G= (n.337+60160G=) c.606G= c.1307G= (p.Arg436=) c.1226G= (p.Arg409=) c.1529G= (p.Arg510=) c.1136G= (p.Arg379=) c.1223G= (p.Arg408=) c.1382G= (p.Arg461=) c.1151G= (p.Arg384=) | |
12 | g.66455459C>G | CA238353632 | GRIP1 | c.1373G>C (p.Arg458Pro) c.1304G>C (p.Arg435Pro) c.1148G>C (p.Arg383Pro) c.410G>C c.874+7465G>C (n.874+7465G>C) c.748G>C c.980G>C (p.Arg327Pro) c.337+60160G>C (n.337+60160G>C) c.606G>C c.1307G>C (p.Arg436Pro) c.1226G>C (p.Arg409Pro) c.1529G>C (p.Arg510Pro) c.1136G>C (p.Arg379Pro) c.1223G>C (p.Arg408Pro) c.1382G>C (p.Arg461Pro) c.1151G>C (p.Arg384Pro) | dbSNP gnomAD v4 |
12 | g.66455459C>T | CA238353633 | GRIP1 | c.1373G>A (p.Arg458His) c.1304G>A (p.Arg435His) c.1148G>A (p.Arg383His) c.410G>A c.874+7465G>A (n.874+7465G>A) c.748G>A c.980G>A (p.Arg327His) c.337+60160G>A (n.337+60160G>A) c.606G>A c.1307G>A (p.Arg436His) c.1226G>A (p.Arg409His) c.1529G>A (p.Arg510His) c.1136G>A (p.Arg379His) c.1223G>A (p.Arg408His) c.1382G>A (p.Arg461His) c.1151G>A (p.Arg384His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455460G>A | CA6674415 | GRIP1 | c.1372C>T (p.Arg458Cys) c.1303C>T (p.Arg435Cys) c.1147C>T (p.Arg383Cys) c.409C>T c.874+7464C>T (n.874+7464C>T) c.747C>T c.979C>T (p.Arg327Cys) c.337+60159C>T (n.337+60159C>T) c.605C>T c.1306C>T (p.Arg436Cys) c.1225C>T (p.Arg409Cys) c.1528C>T (p.Arg510Cys) c.1135C>T (p.Arg379Cys) c.1222C>T (p.Arg408Cys) c.1381C>T (p.Arg461Cys) c.1150C>T (p.Arg384Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455460G>C | CA385625915 | GRIP1 | c.1372C>G (p.Arg458Gly) c.1303C>G (p.Arg435Gly) c.1147C>G (p.Arg383Gly) c.409C>G c.874+7464C>G (n.874+7464C>G) c.747C>G c.979C>G (p.Arg327Gly) c.337+60159C>G (n.337+60159C>G) c.605C>G c.1306C>G (p.Arg436Gly) c.1225C>G (p.Arg409Gly) c.1528C>G (p.Arg510Gly) c.1135C>G (p.Arg379Gly) c.1222C>G (p.Arg408Gly) c.1381C>G (p.Arg461Gly) c.1150C>G (p.Arg384Gly) | |
12 | g.66455460G= | CA2043057190 | GRIP1 | c.1372C= (p.Arg458=) c.1303C= (p.Arg435=) c.1147C= (p.Arg383=) c.409C= c.874+7464C= (n.874+7464C=) c.747C= c.979C= (p.Arg327=) c.337+60159C= (n.337+60159C=) c.605C= c.1306C= (p.Arg436=) c.1225C= (p.Arg409=) c.1528C= (p.Arg510=) c.1135C= (p.Arg379=) c.1222C= (p.Arg408=) c.1381C= (p.Arg461=) c.1150C= (p.Arg384=) | |
12 | g.66455460G>T | CA385625916 | GRIP1 | c.1372C>A (p.Arg458Ser) c.1303C>A (p.Arg435Ser) c.1147C>A (p.Arg383Ser) c.409C>A c.874+7464C>A (n.874+7464C>A) c.747C>A c.979C>A (p.Arg327Ser) c.337+60159C>A (n.337+60159C>A) c.605C>A c.1306C>A (p.Arg436Ser) c.1225C>A (p.Arg409Ser) c.1528C>A (p.Arg510Ser) c.1135C>A (p.Arg379Ser) c.1222C>A (p.Arg408Ser) c.1381C>A (p.Arg461Ser) c.1150C>A (p.Arg384Ser) | |
12 | g.66455461T>A | CA480573922 | GRIP1 | c.1371A>T (p.Pro457=) c.1302A>T (p.Pro434=) c.1146A>T (p.Pro382=) c.408A>T c.874+7463A>T (n.874+7463A>T) c.746A>T c.978A>T (p.Pro326=) c.337+60158A>T (n.337+60158A>T) c.604A>T c.1305A>T (p.Pro435=) c.1224A>T (p.Pro408=) c.1527A>T (p.Pro509=) c.1134A>T (p.Pro378=) c.1221A>T (p.Pro407=) c.1380A>T (p.Pro460=) c.1149A>T (p.Pro383=) | COSMIC |
12 | g.66455461T>C | CA480573923 | GRIP1 | c.1371A>G (p.Pro457=) c.1302A>G (p.Pro434=) c.1146A>G (p.Pro382=) c.408A>G c.874+7463A>G (n.874+7463A>G) c.746A>G c.978A>G (p.Pro326=) c.337+60158A>G (n.337+60158A>G) c.604A>G c.1305A>G (p.Pro435=) c.1224A>G (p.Pro408=) c.1527A>G (p.Pro509=) c.1134A>G (p.Pro378=) c.1221A>G (p.Pro407=) c.1380A>G (p.Pro460=) c.1149A>G (p.Pro383=) | |
12 | g.66455461T>G | CA480573924 | GRIP1 | c.1371A>C (p.Pro457=) c.1302A>C (p.Pro434=) c.1146A>C (p.Pro382=) c.408A>C c.874+7463A>C (n.874+7463A>C) c.746A>C c.978A>C (p.Pro326=) c.337+60158A>C (n.337+60158A>C) c.604A>C c.1305A>C (p.Pro435=) c.1224A>C (p.Pro408=) c.1527A>C (p.Pro509=) c.1134A>C (p.Pro378=) c.1221A>C (p.Pro407=) c.1380A>C (p.Pro460=) c.1149A>C (p.Pro383=) | |
12 | g.66455462G>A | CA385625924 | GRIP1 | c.1370C>T (p.Pro457Leu) c.1301C>T (p.Pro434Leu) c.1145C>T (p.Pro382Leu) c.407C>T c.874+7462C>T (n.874+7462C>T) c.745C>T c.977C>T (p.Pro326Leu) c.337+60157C>T (n.337+60157C>T) c.603C>T c.1304C>T (p.Pro435Leu) c.1223C>T (p.Pro408Leu) c.1526C>T (p.Pro509Leu) c.1133C>T (p.Pro378Leu) c.1220C>T (p.Pro407Leu) c.1379C>T (p.Pro460Leu) c.1148C>T (p.Pro383Leu) | |
12 | g.66455462G>C | CA385625926 | GRIP1 | c.1370C>G (p.Pro457Arg) c.1301C>G (p.Pro434Arg) c.1145C>G (p.Pro382Arg) c.407C>G c.874+7462C>G (n.874+7462C>G) c.745C>G c.977C>G (p.Pro326Arg) c.337+60157C>G (n.337+60157C>G) c.603C>G c.1304C>G (p.Pro435Arg) c.1223C>G (p.Pro408Arg) c.1526C>G (p.Pro509Arg) c.1133C>G (p.Pro378Arg) c.1220C>G (p.Pro407Arg) c.1379C>G (p.Pro460Arg) c.1148C>G (p.Pro383Arg) | |
12 | g.66455462G>T | CA385625922 | GRIP1 | c.1370C>A (p.Pro457Gln) c.1301C>A (p.Pro434Gln) c.1145C>A (p.Pro382Gln) c.407C>A c.874+7462C>A (n.874+7462C>A) c.745C>A c.977C>A (p.Pro326Gln) c.337+60157C>A (n.337+60157C>A) c.603C>A c.1304C>A (p.Pro435Gln) c.1223C>A (p.Pro408Gln) c.1526C>A (p.Pro509Gln) c.1133C>A (p.Pro378Gln) c.1220C>A (p.Pro407Gln) c.1379C>A (p.Pro460Gln) c.1148C>A (p.Pro383Gln) | |
12 | g.66455463G>A | CA385625928 | GRIP1 | c.1369C>T (p.Pro457Ser) c.1300C>T (p.Pro434Ser) c.1144C>T (p.Pro382Ser) c.406C>T c.874+7461C>T (n.874+7461C>T) c.744C>T c.976C>T (p.Pro326Ser) c.337+60156C>T (n.337+60156C>T) c.602C>T c.1303C>T (p.Pro435Ser) c.1222C>T (p.Pro408Ser) c.1525C>T (p.Pro509Ser) c.1132C>T (p.Pro378Ser) c.1219C>T (p.Pro407Ser) c.1378C>T (p.Pro460Ser) c.1147C>T (p.Pro383Ser) | |
12 | g.66455463G>C | CA385625930 | GRIP1 | c.1369C>G (p.Pro457Ala) c.1300C>G (p.Pro434Ala) c.1144C>G (p.Pro382Ala) c.406C>G c.874+7461C>G (n.874+7461C>G) c.744C>G c.976C>G (p.Pro326Ala) c.337+60156C>G (n.337+60156C>G) c.602C>G c.1303C>G (p.Pro435Ala) c.1222C>G (p.Pro408Ala) c.1525C>G (p.Pro509Ala) c.1132C>G (p.Pro378Ala) c.1219C>G (p.Pro407Ala) c.1378C>G (p.Pro460Ala) c.1147C>G (p.Pro383Ala) | |
12 | g.66455463G>T | CA385625931 | GRIP1 | c.1369C>A (p.Pro457Thr) c.1300C>A (p.Pro434Thr) c.1144C>A (p.Pro382Thr) c.406C>A c.874+7461C>A (n.874+7461C>A) c.744C>A c.976C>A (p.Pro326Thr) c.337+60156C>A (n.337+60156C>A) c.602C>A c.1303C>A (p.Pro435Thr) c.1222C>A (p.Pro408Thr) c.1525C>A (p.Pro509Thr) c.1132C>A (p.Pro378Thr) c.1219C>A (p.Pro407Thr) c.1378C>A (p.Pro460Thr) c.1147C>A (p.Pro383Thr) | |
12 | g.66455464G>A | CA480573925 | GRIP1 | c.1368C>T (p.Ser456=) c.1299C>T (p.Ser433=) c.1143C>T (p.Ser381=) c.405C>T c.874+7460C>T (n.874+7460C>T) c.743C>T c.975C>T (p.Ser325=) c.337+60155C>T (n.337+60155C>T) c.601C>T c.1302C>T (p.Ser434=) c.1221C>T (p.Ser407=) c.1524C>T (p.Ser508=) c.1131C>T (p.Ser377=) c.1218C>T (p.Ser406=) c.1377C>T (p.Ser459=) c.1146C>T (p.Ser382=) | |
12 | g.66455464G>C | CA385625934 | GRIP1 | c.1368C>G (p.Ser456Arg) c.1299C>G (p.Ser433Arg) c.1143C>G (p.Ser381Arg) c.405C>G c.874+7460C>G (n.874+7460C>G) c.743C>G c.975C>G (p.Ser325Arg) c.337+60155C>G (n.337+60155C>G) c.601C>G c.1302C>G (p.Ser434Arg) c.1221C>G (p.Ser407Arg) c.1524C>G (p.Ser508Arg) c.1131C>G (p.Ser377Arg) c.1218C>G (p.Ser406Arg) c.1377C>G (p.Ser459Arg) c.1146C>G (p.Ser382Arg) | |
12 | g.66455464G>T | CA385625936 | GRIP1 | c.1368C>A (p.Ser456Arg) c.1299C>A (p.Ser433Arg) c.1143C>A (p.Ser381Arg) c.405C>A c.874+7460C>A (n.874+7460C>A) c.743C>A c.975C>A (p.Ser325Arg) c.337+60155C>A (n.337+60155C>A) c.601C>A c.1302C>A (p.Ser434Arg) c.1221C>A (p.Ser407Arg) c.1524C>A (p.Ser508Arg) c.1131C>A (p.Ser377Arg) c.1218C>A (p.Ser406Arg) c.1377C>A (p.Ser459Arg) c.1146C>A (p.Ser382Arg) | |
12 | g.66455465C>A | CA16609528 | GRIP1 | c.1367G>T (p.Ser456Ile) c.1298G>T (p.Ser433Ile) c.1142G>T (p.Ser381Ile) c.404G>T c.874+7459G>T (n.874+7459G>T) c.742G>T c.974G>T (p.Ser325Ile) c.337+60154G>T (n.337+60154G>T) c.600G>T c.1301G>T (p.Ser434Ile) c.1220G>T (p.Ser407Ile) c.1523G>T (p.Ser508Ile) c.1130G>T (p.Ser377Ile) c.1217G>T (p.Ser406Ile) c.1376G>T (p.Ser459Ile) c.1145G>T (p.Ser382Ile) | ClinVar dbSNP |
12 | g.66455465C= | CA2043057191 | GRIP1 | c.1367G= (p.Ser456=) c.1298G= (p.Ser433=) c.1142G= (p.Ser381=) c.404G= c.874+7459G= (n.874+7459G=) c.742G= c.974G= (p.Ser325=) c.337+60154G= (n.337+60154G=) c.600G= c.1301G= (p.Ser434=) c.1220G= (p.Ser407=) c.1523G= (p.Ser508=) c.1130G= (p.Ser377=) c.1217G= (p.Ser406=) c.1376G= (p.Ser459=) c.1145G= (p.Ser382=) | |
12 | g.66455465C>G | CA385625941 | GRIP1 | c.1367G>C (p.Ser456Thr) c.1298G>C (p.Ser433Thr) c.1142G>C (p.Ser381Thr) c.404G>C c.874+7459G>C (n.874+7459G>C) c.742G>C c.974G>C (p.Ser325Thr) c.337+60154G>C (n.337+60154G>C) c.600G>C c.1301G>C (p.Ser434Thr) c.1220G>C (p.Ser407Thr) c.1523G>C (p.Ser508Thr) c.1130G>C (p.Ser377Thr) c.1217G>C (p.Ser406Thr) c.1376G>C (p.Ser459Thr) c.1145G>C (p.Ser382Thr) | |
12 | g.66455465C>T | CA385625938 | GRIP1 | c.1367G>A (p.Ser456Asn) c.1298G>A (p.Ser433Asn) c.1142G>A (p.Ser381Asn) c.404G>A c.874+7459G>A (n.874+7459G>A) c.742G>A c.974G>A (p.Ser325Asn) c.337+60154G>A (n.337+60154G>A) c.600G>A c.1301G>A (p.Ser434Asn) c.1220G>A (p.Ser407Asn) c.1523G>A (p.Ser508Asn) c.1130G>A (p.Ser377Asn) c.1217G>A (p.Ser406Asn) c.1376G>A (p.Ser459Asn) c.1145G>A (p.Ser382Asn) | |
12 | g.66455466T>A | CA385625943 | GRIP1 | c.1366A>T (p.Ser456Cys) c.1297A>T (p.Ser433Cys) c.1141A>T (p.Ser381Cys) c.403A>T c.874+7458A>T (n.874+7458A>T) c.741A>T c.973A>T (p.Ser325Cys) c.337+60153A>T (n.337+60153A>T) c.599A>T c.1300A>T (p.Ser434Cys) c.1219A>T (p.Ser407Cys) c.1522A>T (p.Ser508Cys) c.1129A>T (p.Ser377Cys) c.1216A>T (p.Ser406Cys) c.1375A>T (p.Ser459Cys) c.1144A>T (p.Ser382Cys) | |
12 | g.66455466T>C | CA385625946 | GRIP1 | c.1366A>G (p.Ser456Gly) c.1297A>G (p.Ser433Gly) c.1141A>G (p.Ser381Gly) c.403A>G c.874+7458A>G (n.874+7458A>G) c.741A>G c.973A>G (p.Ser325Gly) c.337+60153A>G (n.337+60153A>G) c.599A>G c.1300A>G (p.Ser434Gly) c.1219A>G (p.Ser407Gly) c.1522A>G (p.Ser508Gly) c.1129A>G (p.Ser377Gly) c.1216A>G (p.Ser406Gly) c.1375A>G (p.Ser459Gly) c.1144A>G (p.Ser382Gly) | gnomAD v4 |
12 | g.66455466T>G | CA385625948 | GRIP1 | c.1366A>C (p.Ser456Arg) c.1297A>C (p.Ser433Arg) c.1141A>C (p.Ser381Arg) c.403A>C c.874+7458A>C (n.874+7458A>C) c.741A>C c.973A>C (p.Ser325Arg) c.337+60153A>C (n.337+60153A>C) c.599A>C c.1300A>C (p.Ser434Arg) c.1219A>C (p.Ser407Arg) c.1522A>C (p.Ser508Arg) c.1129A>C (p.Ser377Arg) c.1216A>C (p.Ser406Arg) c.1375A>C (p.Ser459Arg) c.1144A>C (p.Ser382Arg) | |
12 | g.66455467G>A | CA480573927 | GRIP1 | c.1365C>T (p.Thr455=) c.1296C>T (p.Thr432=) c.1140C>T (p.Thr380=) c.402C>T c.874+7457C>T (n.874+7457C>T) c.740C>T c.972C>T (p.Thr324=) c.337+60152C>T (n.337+60152C>T) c.598C>T c.1299C>T (p.Thr433=) c.1218C>T (p.Thr406=) c.1521C>T (p.Thr507=) c.1128C>T (p.Thr376=) c.1215C>T (p.Thr405=) c.1374C>T (p.Thr458=) c.1143C>T (p.Thr381=) | |
12 | g.66455467G>C | CA480573928 | GRIP1 | c.1365C>G (p.Thr455=) c.1296C>G (p.Thr432=) c.1140C>G (p.Thr380=) c.402C>G c.874+7457C>G (n.874+7457C>G) c.740C>G c.972C>G (p.Thr324=) c.337+60152C>G (n.337+60152C>G) c.598C>G c.1299C>G (p.Thr433=) c.1218C>G (p.Thr406=) c.1521C>G (p.Thr507=) c.1128C>G (p.Thr376=) c.1215C>G (p.Thr405=) c.1374C>G (p.Thr458=) c.1143C>G (p.Thr381=) | |
12 | g.66455467G>T | CA480573929 | GRIP1 | c.1365C>A (p.Thr455=) c.1296C>A (p.Thr432=) c.1140C>A (p.Thr380=) c.402C>A c.874+7457C>A (n.874+7457C>A) c.740C>A c.972C>A (p.Thr324=) c.337+60152C>A (n.337+60152C>A) c.598C>A c.1299C>A (p.Thr433=) c.1218C>A (p.Thr406=) c.1521C>A (p.Thr507=) c.1128C>A (p.Thr376=) c.1215C>A (p.Thr405=) c.1374C>A (p.Thr458=) c.1143C>A (p.Thr381=) | |
12 | g.66455468G>A | CA6674416 | GRIP1 | c.1364C>T (p.Thr455Ile) c.1295C>T (p.Thr432Ile) c.1139C>T (p.Thr380Ile) c.401C>T c.874+7456C>T (n.874+7456C>T) c.739C>T c.971C>T (p.Thr324Ile) c.337+60151C>T (n.337+60151C>T) c.597C>T c.1298C>T (p.Thr433Ile) c.1217C>T (p.Thr406Ile) c.1520C>T (p.Thr507Ile) c.1127C>T (p.Thr376Ile) c.1214C>T (p.Thr405Ile) c.1373C>T (p.Thr458Ile) c.1142C>T (p.Thr381Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.66455468G>C | CA385625953 | GRIP1 | c.1364C>G (p.Thr455Ser) c.1295C>G (p.Thr432Ser) c.1139C>G (p.Thr380Ser) c.401C>G c.874+7456C>G (n.874+7456C>G) c.739C>G c.971C>G (p.Thr324Ser) c.337+60151C>G (n.337+60151C>G) c.597C>G c.1298C>G (p.Thr433Ser) c.1217C>G (p.Thr406Ser) c.1520C>G (p.Thr507Ser) c.1127C>G (p.Thr376Ser) c.1214C>G (p.Thr405Ser) c.1373C>G (p.Thr458Ser) c.1142C>G (p.Thr381Ser) | |
12 | g.66455468G= | CA2043057192 | GRIP1 | c.1364C= (p.Thr455=) c.1295C= (p.Thr432=) c.1139C= (p.Thr380=) c.401C= c.874+7456C= (n.874+7456C=) c.739C= c.971C= (p.Thr324=) c.337+60151C= (n.337+60151C=) c.597C= c.1298C= (p.Thr433=) c.1217C= (p.Thr406=) c.1520C= (p.Thr507=) c.1127C= (p.Thr376=) c.1214C= (p.Thr405=) c.1373C= (p.Thr458=) c.1142C= (p.Thr381=) | |
12 | g.66455468G>T | CA385625962 | GRIP1 | c.1364C>A (p.Thr455Asn) c.1295C>A (p.Thr432Asn) c.1139C>A (p.Thr380Asn) c.401C>A c.874+7456C>A (n.874+7456C>A) c.739C>A c.971C>A (p.Thr324Asn) c.337+60151C>A (n.337+60151C>A) c.597C>A c.1298C>A (p.Thr433Asn) c.1217C>A (p.Thr406Asn) c.1520C>A (p.Thr507Asn) c.1127C>A (p.Thr376Asn) c.1214C>A (p.Thr405Asn) c.1373C>A (p.Thr458Asn) c.1142C>A (p.Thr381Asn) | gnomAD v4 |
12 | g.66455469T>A | CA385625965 | GRIP1 | c.1363A>T (p.Thr455Ser) c.1294A>T (p.Thr432Ser) c.1138A>T (p.Thr380Ser) c.400A>T c.874+7455A>T (n.874+7455A>T) c.738A>T c.970A>T (p.Thr324Ser) c.337+60150A>T (n.337+60150A>T) c.596A>T c.1297A>T (p.Thr433Ser) c.1216A>T (p.Thr406Ser) c.1519A>T (p.Thr507Ser) c.1126A>T (p.Thr376Ser) c.1213A>T (p.Thr405Ser) c.1372A>T (p.Thr458Ser) c.1141A>T (p.Thr381Ser) | COSMIC COSMIC |
12 | g.66455469T>C | CA385625969 | GRIP1 | c.1363A>G (p.Thr455Ala) c.1294A>G (p.Thr432Ala) c.1138A>G (p.Thr380Ala) c.400A>G c.874+7455A>G (n.874+7455A>G) c.738A>G c.970A>G (p.Thr324Ala) c.337+60150A>G (n.337+60150A>G) c.596A>G c.1297A>G (p.Thr433Ala) c.1216A>G (p.Thr406Ala) c.1519A>G (p.Thr507Ala) c.1126A>G (p.Thr376Ala) c.1213A>G (p.Thr405Ala) c.1372A>G (p.Thr458Ala) c.1141A>G (p.Thr381Ala) | |
12 | g.66455469T>G | CA385625967 | GRIP1 | c.1363A>C (p.Thr455Pro) c.1294A>C (p.Thr432Pro) c.1138A>C (p.Thr380Pro) c.400A>C c.874+7455A>C (n.874+7455A>C) c.738A>C c.970A>C (p.Thr324Pro) c.337+60150A>C (n.337+60150A>C) c.596A>C c.1297A>C (p.Thr433Pro) c.1216A>C (p.Thr406Pro) c.1519A>C (p.Thr507Pro) c.1126A>C (p.Thr376Pro) c.1213A>C (p.Thr405Pro) c.1372A>C (p.Thr458Pro) c.1141A>C (p.Thr381Pro) | dbSNP |
12 | g.66455469T= | CA2043057193 | GRIP1 | c.1363A= (p.Thr455=) c.1294A= (p.Thr432=) c.1138A= (p.Thr380=) c.400A= c.874+7455A= (n.874+7455A=) c.738A= c.970A= (p.Thr324=) c.337+60150A= (n.337+60150A=) c.596A= c.1297A= (p.Thr433=) c.1216A= (p.Thr406=) c.1519A= (p.Thr507=) c.1126A= (p.Thr376=) c.1213A= (p.Thr405=) c.1372A= (p.Thr458=) c.1141A= (p.Thr381=) | |
12 | g.66455470G>A | CA6674417 | GRIP1 | c.1362C>T (p.Ser454=) c.1293C>T (p.Ser431=) c.1137C>T (p.Ser379=) c.399C>T c.874+7454C>T (n.874+7454C>T) c.737C>T c.969C>T (p.Ser323=) c.337+60149C>T (n.337+60149C>T) c.595C>T c.1296C>T (p.Ser432=) c.1215C>T (p.Ser405=) c.1518C>T (p.Ser506=) c.1125C>T (p.Ser375=) c.1212C>T (p.Ser404=) c.1371C>T (p.Ser457=) c.1140C>T (p.Ser380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.66455470G>C | CA480573931 | GRIP1 | c.1362C>G (p.Ser454=) c.1293C>G (p.Ser431=) c.1137C>G (p.Ser379=) c.399C>G c.874+7454C>G (n.874+7454C>G) c.737C>G c.969C>G (p.Ser323=) c.337+60149C>G (n.337+60149C>G) c.595C>G c.1296C>G (p.Ser432=) c.1215C>G (p.Ser405=) c.1518C>G (p.Ser506=) c.1125C>G (p.Ser375=) c.1212C>G (p.Ser404=) c.1371C>G (p.Ser457=) c.1140C>G (p.Ser380=) | |
12 | g.66455470G= | CA2043057194 | GRIP1 | c.1362C= (p.Ser454=) c.1293C= (p.Ser431=) c.1137C= (p.Ser379=) c.399C= c.874+7454C= (n.874+7454C=) c.737C= c.969C= (p.Ser323=) c.337+60149C= (n.337+60149C=) c.595C= c.1296C= (p.Ser432=) c.1215C= (p.Ser405=) c.1518C= (p.Ser506=) c.1125C= (p.Ser375=) c.1212C= (p.Ser404=) c.1371C= (p.Ser457=) c.1140C= (p.Ser380=) | |
12 | g.66455470G>T | CA480573930 | GRIP1 | c.1362C>A (p.Ser454=) c.1293C>A (p.Ser431=) c.1137C>A (p.Ser379=) c.399C>A c.874+7454C>A (n.874+7454C>A) c.737C>A c.969C>A (p.Ser323=) c.337+60149C>A (n.337+60149C>A) c.595C>A c.1296C>A (p.Ser432=) c.1215C>A (p.Ser405=) c.1518C>A (p.Ser506=) c.1125C>A (p.Ser375=) c.1212C>A (p.Ser404=) c.1371C>A (p.Ser457=) c.1140C>A (p.Ser380=) | |
12 | g.66455471G>A | CA385625975 | GRIP1 | c.1361C>T (p.Ser454Phe) c.1292C>T (p.Ser431Phe) c.1136C>T (p.Ser379Phe) c.398C>T c.874+7453C>T (n.874+7453C>T) c.736C>T c.968C>T (p.Ser323Phe) c.337+60148C>T (n.337+60148C>T) c.594C>T c.1295C>T (p.Ser432Phe) c.1214C>T (p.Ser405Phe) c.1517C>T (p.Ser506Phe) c.1124C>T (p.Ser375Phe) c.1211C>T (p.Ser404Phe) c.1370C>T (p.Ser457Phe) c.1139C>T (p.Ser380Phe) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455471G>C | CA385625976 | GRIP1 | c.1361C>G (p.Ser454Cys) c.1292C>G (p.Ser431Cys) c.1136C>G (p.Ser379Cys) c.398C>G c.874+7453C>G (n.874+7453C>G) c.736C>G c.968C>G (p.Ser323Cys) c.337+60148C>G (n.337+60148C>G) c.594C>G c.1295C>G (p.Ser432Cys) c.1214C>G (p.Ser405Cys) c.1517C>G (p.Ser506Cys) c.1124C>G (p.Ser375Cys) c.1211C>G (p.Ser404Cys) c.1370C>G (p.Ser457Cys) c.1139C>G (p.Ser380Cys) | |
12 | g.66455471G= | CA2043057195 | GRIP1 | c.1361C= (p.Ser454=) c.1292C= (p.Ser431=) c.1136C= (p.Ser379=) c.398C= c.874+7453C= (n.874+7453C=) c.736C= c.968C= (p.Ser323=) c.337+60148C= (n.337+60148C=) c.594C= c.1295C= (p.Ser432=) c.1214C= (p.Ser405=) c.1517C= (p.Ser506=) c.1124C= (p.Ser375=) c.1211C= (p.Ser404=) c.1370C= (p.Ser457=) c.1139C= (p.Ser380=) | |
12 | g.66455471G>T | CA385625978 | GRIP1 | c.1361C>A (p.Ser454Tyr) c.1292C>A (p.Ser431Tyr) c.1136C>A (p.Ser379Tyr) c.398C>A c.874+7453C>A (n.874+7453C>A) c.736C>A c.968C>A (p.Ser323Tyr) c.337+60148C>A (n.337+60148C>A) c.594C>A c.1295C>A (p.Ser432Tyr) c.1214C>A (p.Ser405Tyr) c.1517C>A (p.Ser506Tyr) c.1124C>A (p.Ser375Tyr) c.1211C>A (p.Ser404Tyr) c.1370C>A (p.Ser457Tyr) c.1139C>A (p.Ser380Tyr) | |
12 | g.66455472A>C | CA385625981 | GRIP1 | c.1360T>G (p.Ser454Ala) c.1291T>G (p.Ser431Ala) c.1135T>G (p.Ser379Ala) c.397T>G c.874+7452T>G (n.874+7452T>G) c.735T>G c.967T>G (p.Ser323Ala) c.337+60147T>G (n.337+60147T>G) c.593T>G c.1294T>G (p.Ser432Ala) c.1213T>G (p.Ser405Ala) c.1516T>G (p.Ser506Ala) c.1123T>G (p.Ser375Ala) c.1210T>G (p.Ser404Ala) c.1369T>G (p.Ser457Ala) c.1138T>G (p.Ser380Ala) | |
12 | g.66455472A>G | CA385625983 | GRIP1 | c.1360T>C (p.Ser454Pro) c.1291T>C (p.Ser431Pro) c.1135T>C (p.Ser379Pro) c.397T>C c.874+7452T>C (n.874+7452T>C) c.735T>C c.967T>C (p.Ser323Pro) c.337+60147T>C (n.337+60147T>C) c.593T>C c.1294T>C (p.Ser432Pro) c.1213T>C (p.Ser405Pro) c.1516T>C (p.Ser506Pro) c.1123T>C (p.Ser375Pro) c.1210T>C (p.Ser404Pro) c.1369T>C (p.Ser457Pro) c.1138T>C (p.Ser380Pro) | |
12 | g.66455472A>T | CA385625986 | GRIP1 | c.1360T>A (p.Ser454Thr) c.1291T>A (p.Ser431Thr) c.1135T>A (p.Ser379Thr) c.397T>A c.874+7452T>A (n.874+7452T>A) c.735T>A c.967T>A (p.Ser323Thr) c.337+60147T>A (n.337+60147T>A) c.593T>A c.1294T>A (p.Ser432Thr) c.1213T>A (p.Ser405Thr) c.1516T>A (p.Ser506Thr) c.1123T>A (p.Ser375Thr) c.1210T>A (p.Ser404Thr) c.1369T>A (p.Ser457Thr) c.1138T>A (p.Ser380Thr) | |
12 | g.66455473G>A | CA238353642 | GRIP1 | c.1359C>T (p.Tyr453=) c.1290C>T (p.Tyr430=) c.1134C>T (p.Tyr378=) c.396C>T c.874+7451C>T (n.874+7451C>T) c.734C>T c.966C>T (p.Tyr322=) c.337+60146C>T (n.337+60146C>T) c.592C>T c.1293C>T (p.Tyr431=) c.1212C>T (p.Tyr404=) c.1515C>T (p.Tyr505=) c.1122C>T (p.Tyr374=) c.1209C>T (p.Tyr403=) c.1368C>T (p.Tyr456=) c.1137C>T (p.Tyr379=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.66455473G>C | CA385625991 | GRIP1 | c.1359C>G (p.Tyr453Ter) c.1290C>G (p.Tyr430Ter) c.1134C>G (p.Tyr378Ter) c.396C>G c.874+7451C>G (n.874+7451C>G) c.734C>G c.966C>G (p.Tyr322Ter) c.337+60146C>G (n.337+60146C>G) c.592C>G c.1293C>G (p.Tyr431Ter) c.1212C>G (p.Tyr404Ter) c.1515C>G (p.Tyr505Ter) c.1122C>G (p.Tyr374Ter) c.1209C>G (p.Tyr403Ter) c.1368C>G (p.Tyr456Ter) c.1137C>G (p.Tyr379Ter) | |
12 | g.66455473G= | CA2043057196 | GRIP1 | c.1359C= (p.Tyr453=) c.1290C= (p.Tyr430=) c.1134C= (p.Tyr378=) c.396C= c.874+7451C= (n.874+7451C=) c.734C= c.966C= (p.Tyr322=) c.337+60146C= (n.337+60146C=) c.592C= c.1293C= (p.Tyr431=) c.1212C= (p.Tyr404=) c.1515C= (p.Tyr505=) c.1122C= (p.Tyr374=) c.1209C= (p.Tyr403=) c.1368C= (p.Tyr456=) c.1137C= (p.Tyr379=) | |
12 | g.66455473G>T | CA385625992 | GRIP1 | c.1359C>A (p.Tyr453Ter) c.1290C>A (p.Tyr430Ter) c.1134C>A (p.Tyr378Ter) c.396C>A c.874+7451C>A (n.874+7451C>A) c.734C>A c.966C>A (p.Tyr322Ter) c.337+60146C>A (n.337+60146C>A) c.592C>A c.1293C>A (p.Tyr431Ter) c.1212C>A (p.Tyr404Ter) c.1515C>A (p.Tyr505Ter) c.1122C>A (p.Tyr374Ter) c.1209C>A (p.Tyr403Ter) c.1368C>A (p.Tyr456Ter) c.1137C>A (p.Tyr379Ter) |