Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7131595_7132840del | CA124243 | INSR | c.2683-522_2842+564del c.2647-522_2806+564del c.2761-522_2920+564del c.2725-522_2884+564del | |
19 | g.7131614_7132859del | CA124244 | INSR | c.2683-542_2842+544del c.2647-542_2806+544del c.2761-542_2920+544del c.2725-542_2884+544del | |
19 | g.7132086T>A | CA2587922706 | INSR | c.2842+72A>T (n.2842+72A>T) c.2806+72A>T (n.2806+72A>T) c.2920+72A>T (n.2920+72A>T) c.2884+72A>T (n.2884+72A>T) | gnomAD v4 |
19 | g.7132087C>A | CA2587922707 | INSR | c.2842+71G>T (n.2842+71G>T) c.2806+71G>T (n.2806+71G>T) c.2920+71G>T (n.2920+71G>T) c.2884+71G>T (n.2884+71G>T) | gnomAD v4 |
19 | g.7132087C= | CA2320771015 | INSR | c.2842+71G= (n.2842+71G=) c.2806+71G= (n.2806+71G=) c.2920+71G= (n.2920+71G=) c.2884+71G= (n.2884+71G=) | |
19 | g.7132087C>G | CA2320771016 | INSR | c.2842+71G>C (n.2842+71G>C) c.2806+71G>C (n.2806+71G>C) c.2920+71G>C (n.2920+71G>C) c.2884+71G>C (n.2884+71G>C) | dbSNP gnomAD v4 |
19 | g.7132087C>T | CA884179727 | INSR | c.2842+71G>A (n.2842+71G>A) c.2806+71G>A (n.2806+71G>A) c.2920+71G>A (n.2920+71G>A) c.2884+71G>A (n.2884+71G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132088C>G | CA2587922708 | INSR | c.2842+70G>C (n.2842+70G>C) c.2806+70G>C (n.2806+70G>C) c.2920+70G>C (n.2920+70G>C) c.2884+70G>C (n.2884+70G>C) | gnomAD v4 |
19 | g.7132088C>T | CA2587922709 | INSR | c.2842+70G>A (n.2842+70G>A) c.2806+70G>A (n.2806+70G>A) c.2920+70G>A (n.2920+70G>A) c.2884+70G>A (n.2884+70G>A) | gnomAD v4 |
19 | g.7132089C>A | CA2576595094 | INSR | c.2842+69G>T (n.2842+69G>T) c.2806+69G>T (n.2806+69G>T) c.2920+69G>T (n.2920+69G>T) c.2884+69G>T (n.2884+69G>T) | |
19 | g.7132090C= | CA2320771017 | INSR | c.2842+68G= (n.2842+68G=) c.2806+68G= (n.2806+68G=) c.2920+68G= (n.2920+68G=) c.2884+68G= (n.2884+68G=) | |
19 | g.7132090C>T | CA304878238 | INSR | c.2842+68G>A (n.2842+68G>A) c.2806+68G>A (n.2806+68G>A) c.2920+68G>A (n.2920+68G>A) c.2884+68G>A (n.2884+68G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132091T>G | CA2587922710 | INSR | c.2842+67A>C (n.2842+67A>C) c.2806+67A>C (n.2806+67A>C) c.2920+67A>C (n.2920+67A>C) c.2884+67A>C (n.2884+67A>C) | gnomAD v4 |
19 | g.7132092G>A | CA2587922711 | INSR | c.2842+66C>T (n.2842+66C>T) c.2806+66C>T (n.2806+66C>T) c.2920+66C>T (n.2920+66C>T) c.2884+66C>T (n.2884+66C>T) | gnomAD v4 |
19 | g.7132092G>T | CA2587922712 | INSR | c.2842+66C>A (n.2842+66C>A) c.2806+66C>A (n.2806+66C>A) c.2920+66C>A (n.2920+66C>A) c.2884+66C>A (n.2884+66C>A) | gnomAD v4 |
19 | g.7132093C>T | CA2576595095 | INSR | c.2842+65G>A (n.2842+65G>A) c.2806+65G>A (n.2806+65G>A) c.2920+65G>A (n.2920+65G>A) c.2884+65G>A (n.2884+65G>A) | |
19 | g.7132094A= | CA2320771018 | INSR | c.2842+64T= (n.2842+64T=) c.2806+64T= (n.2806+64T=) c.2920+64T= (n.2920+64T=) c.2884+64T= (n.2884+64T=) | |
19 | g.7132094A>C | CA884179728 | INSR | c.2842+64T>G (n.2842+64T>G) c.2806+64T>G (n.2806+64T>G) c.2920+64T>G (n.2920+64T>G) c.2884+64T>G (n.2884+64T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132094A>G | CA2587922713 | INSR | c.2842+64T>C (n.2842+64T>C) c.2806+64T>C (n.2806+64T>C) c.2920+64T>C (n.2920+64T>C) c.2884+64T>C (n.2884+64T>C) | gnomAD v4 |
19 | g.7132096T>C | CA2587922714 | INSR | c.2842+62A>G (n.2842+62A>G) c.2806+62A>G (n.2806+62A>G) c.2920+62A>G (n.2920+62A>G) c.2884+62A>G (n.2884+62A>G) | gnomAD v4 |
19 | g.7132099C>A | CA993109819 | INSR | c.2842+59G>T (n.2842+59G>T) c.2806+59G>T (n.2806+59G>T) c.2920+59G>T (n.2920+59G>T) c.2884+59G>T (n.2884+59G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132099C= | CA2320771019 | INSR | c.2842+59G= (n.2842+59G=) c.2806+59G= (n.2806+59G=) c.2920+59G= (n.2920+59G=) c.2884+59G= (n.2884+59G=) | |
19 | g.7132100C>A | CA304878250 | INSR | c.2842+58G>T (n.2842+58G>T) c.2806+58G>T (n.2806+58G>T) c.2920+58G>T (n.2920+58G>T) c.2884+58G>T (n.2884+58G>T) | dbSNP |
19 | g.7132100C= | CA2320771020 | INSR | c.2842+58G= (n.2842+58G=) c.2806+58G= (n.2806+58G=) c.2920+58G= (n.2920+58G=) c.2884+58G= (n.2884+58G=) | |
19 | g.7132100C>T | CA884179729 | INSR | c.2842+58G>A (n.2842+58G>A) c.2806+58G>A (n.2806+58G>A) c.2920+58G>A (n.2920+58G>A) c.2884+58G>A (n.2884+58G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132101C>A | CA2587922715 | INSR | c.2842+57G>T (n.2842+57G>T) c.2806+57G>T (n.2806+57G>T) c.2920+57G>T (n.2920+57G>T) c.2884+57G>T (n.2884+57G>T) | gnomAD v4 |
19 | g.7132102A= | CA2320771021 | INSR | c.2842+56T= (n.2842+56T=) c.2806+56T= (n.2806+56T=) c.2920+56T= (n.2920+56T=) c.2884+56T= (n.2884+56T=) | |
19 | g.7132102A>C | CA304878261 | INSR | c.2842+56T>G (n.2842+56T>G) c.2806+56T>G (n.2806+56T>G) c.2920+56T>G (n.2920+56T>G) c.2884+56T>G (n.2884+56T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132103C= | CA2320771022 | INSR | c.2842+55G= (n.2842+55G=) c.2806+55G= (n.2806+55G=) c.2920+55G= (n.2920+55G=) c.2884+55G= (n.2884+55G=) | |
19 | g.7132103C>T | CA993109825 | INSR | c.2842+55G>A (n.2842+55G>A) c.2806+55G>A (n.2806+55G>A) c.2920+55G>A (n.2920+55G>A) c.2884+55G>A (n.2884+55G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132104C>T | CA2576595096 | INSR | c.2842+54G>A (n.2842+54G>A) c.2806+54G>A (n.2806+54G>A) c.2920+54G>A (n.2920+54G>A) c.2884+54G>A (n.2884+54G>A) | |
19 | g.7132105A>G | CA2587922716 | INSR | c.2842+53T>C (n.2842+53T>C) c.2806+53T>C (n.2806+53T>C) c.2920+53T>C (n.2920+53T>C) c.2884+53T>C (n.2884+53T>C) | gnomAD v4 |
19 | g.7132106T>C | CA884179731 | INSR | c.2842+52A>G (n.2842+52A>G) c.2806+52A>G (n.2806+52A>G) c.2920+52A>G (n.2920+52A>G) c.2884+52A>G (n.2884+52A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132106T>G | CA2320771024 | INSR | c.2842+52A>C (n.2842+52A>C) c.2806+52A>C (n.2806+52A>C) c.2920+52A>C (n.2920+52A>C) c.2884+52A>C (n.2884+52A>C) | dbSNP |
19 | g.7132106T= | CA2320771023 | INSR | c.2842+52A= (n.2842+52A=) c.2806+52A= (n.2806+52A=) c.2920+52A= (n.2920+52A=) c.2884+52A= (n.2884+52A=) | |
19 | g.7132107G>A | CA631723692 | INSR | c.2842+51C>T (n.2842+51C>T) c.2806+51C>T (n.2806+51C>T) c.2920+51C>T (n.2920+51C>T) c.2884+51C>T (n.2884+51C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132107G= | CA2320771025 | INSR | c.2842+51C= (n.2842+51C=) c.2806+51C= (n.2806+51C=) c.2920+51C= (n.2920+51C=) c.2884+51C= (n.2884+51C=) | |
19 | g.7132107G>T | CA2576595097 | INSR | c.2842+51C>A (n.2842+51C>A) c.2806+51C>A (n.2806+51C>A) c.2920+51C>A (n.2920+51C>A) c.2884+51C>A (n.2884+51C>A) | gnomAD v4 |
19 | g.7132108C>A | CA2587922717 | INSR | c.2842+50G>T (n.2842+50G>T) c.2806+50G>T (n.2806+50G>T) c.2920+50G>T (n.2920+50G>T) c.2884+50G>T (n.2884+50G>T) | gnomAD v4 |
19 | g.7132109T>C | CA9135437 | INSR | c.2842+49A>G (n.2842+49A>G) c.2806+49A>G (n.2806+49A>G) c.2920+49A>G (n.2920+49A>G) c.2884+49A>G (n.2884+49A>G) | dbSNP ExAC gnomAD v2 |
19 | g.7132109T= | CA2320771026 | INSR | c.2842+49A= (n.2842+49A=) c.2806+49A= (n.2806+49A=) c.2920+49A= (n.2920+49A=) c.2884+49A= (n.2884+49A=) | |
19 | g.7132110C= | CA2320771027 | INSR | c.2842+48G= (n.2842+48G=) c.2806+48G= (n.2806+48G=) c.2920+48G= (n.2920+48G=) c.2884+48G= (n.2884+48G=) | |
19 | g.7132110C>G | CA9135438 | INSR | c.2842+48G>C (n.2842+48G>C) c.2806+48G>C (n.2806+48G>C) c.2920+48G>C (n.2920+48G>C) c.2884+48G>C (n.2884+48G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132110C>T | CA2587922718 | INSR | c.2842+48G>A (n.2842+48G>A) c.2806+48G>A (n.2806+48G>A) c.2920+48G>A (n.2920+48G>A) c.2884+48G>A (n.2884+48G>A) | gnomAD v4 |
19 | g.7132111A= | CA2320771029 | INSR | c.2842+47T= (n.2842+47T=) c.2806+47T= (n.2806+47T=) c.2920+47T= (n.2920+47T=) c.2884+47T= (n.2884+47T=) | |
19 | g.7132111A>C | CA2320771028 | INSR | c.2842+47T>G (n.2842+47T>G) c.2806+47T>G (n.2806+47T>G) c.2920+47T>G (n.2920+47T>G) c.2884+47T>G (n.2884+47T>G) | dbSNP |
19 | g.7132111A>G | CA9135439 | INSR | c.2842+47T>C (n.2842+47T>C) c.2806+47T>C (n.2806+47T>C) c.2920+47T>C (n.2920+47T>C) c.2884+47T>C (n.2884+47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132113T>C | CA2576595098 | INSR | c.2842+45A>G (n.2842+45A>G) c.2806+45A>G (n.2806+45A>G) c.2920+45A>G (n.2920+45A>G) c.2884+45A>G (n.2884+45A>G) | |
19 | g.7132113T>G | CA2576595099 | INSR | c.2842+45A>C (n.2842+45A>C) c.2806+45A>C (n.2806+45A>C) c.2920+45A>C (n.2920+45A>C) c.2884+45A>C (n.2884+45A>C) | gnomAD v4 |
19 | g.7132114G>T | CA2576595100 | INSR | c.2842+44C>A (n.2842+44C>A) c.2806+44C>A (n.2806+44C>A) c.2920+44C>A (n.2920+44C>A) c.2884+44C>A (n.2884+44C>A) | |
19 | g.7132117A>C | CA2587922719 | INSR | c.2842+41T>G (n.2842+41T>G) c.2806+41T>G (n.2806+41T>G) c.2920+41T>G (n.2920+41T>G) c.2884+41T>G (n.2884+41T>G) | gnomAD v4 |
19 | g.7132118_7132119insTTAG | CA2587922720 | INSR | c.2842+39_2842+40insCTAA (n.2842+39_2842+40insCTAA) c.2806+39_2806+40insCTAA (n.2806+39_2806+40insCTAA) c.2920+39_2920+40insCTAA (n.2920+39_2920+40insCTAA) c.2884+39_2884+40insCTAA (n.2884+39_2884+40insCTAA) | gnomAD v4 |
19 | g.7132122C= | CA2320771030 | INSR | c.2842+36G= (n.2842+36G=) c.2806+36G= (n.2806+36G=) c.2920+36G= (n.2920+36G=) c.2884+36G= (n.2884+36G=) | |
19 | g.7132122C>G | CA631723693 | INSR | c.2842+36G>C (n.2842+36G>C) c.2806+36G>C (n.2806+36G>C) c.2920+36G>C (n.2920+36G>C) c.2884+36G>C (n.2884+36G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132122C>T | CA2320771031 | INSR | c.2842+36G>A (n.2842+36G>A) c.2806+36G>A (n.2806+36G>A) c.2920+36G>A (n.2920+36G>A) c.2884+36G>A (n.2884+36G>A) | dbSNP |
19 | g.7132123A= | CA2320771032 | INSR | c.2842+35T= (n.2842+35T=) c.2806+35T= (n.2806+35T=) c.2920+35T= (n.2920+35T=) c.2884+35T= (n.2884+35T=) | |
19 | g.7132123A>G | CA2320771033 | INSR | c.2842+35T>C (n.2842+35T>C) c.2806+35T>C (n.2806+35T>C) c.2920+35T>C (n.2920+35T>C) c.2884+35T>C (n.2884+35T>C) | dbSNP gnomAD v4 |
19 | g.7132124G>A | CA884179741 | INSR | c.2842+34C>T (n.2842+34C>T) c.2806+34C>T (n.2806+34C>T) c.2920+34C>T (n.2920+34C>T) c.2884+34C>T (n.2884+34C>T) | dbSNP |
19 | g.7132124G= | CA2320771034 | INSR | c.2842+34C= (n.2842+34C=) c.2806+34C= (n.2806+34C=) c.2920+34C= (n.2920+34C=) c.2884+34C= (n.2884+34C=) | |
19 | g.7132125C>A | CA9135441 | INSR | c.2842+33G>T (n.2842+33G>T) c.2806+33G>T (n.2806+33G>T) c.2920+33G>T (n.2920+33G>T) c.2884+33G>T (n.2884+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132125C= | CA2320771035 | INSR | c.2842+33G= (n.2842+33G=) c.2806+33G= (n.2806+33G=) c.2920+33G= (n.2920+33G=) c.2884+33G= (n.2884+33G=) | |
19 | g.7132125C>G | CA993109834 | INSR | c.2842+33G>C (n.2842+33G>C) c.2806+33G>C (n.2806+33G>C) c.2920+33G>C (n.2920+33G>C) c.2884+33G>C (n.2884+33G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132125C>T | CA9135440 | INSR | c.2842+33G>A (n.2842+33G>A) c.2806+33G>A (n.2806+33G>A) c.2920+33G>A (n.2920+33G>A) c.2884+33G>A (n.2884+33G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132127C>G | CA2576595101 | INSR | c.2842+31G>C (n.2842+31G>C) c.2806+31G>C (n.2806+31G>C) c.2920+31G>C (n.2920+31G>C) c.2884+31G>C (n.2884+31G>C) | |
19 | g.7132128C>A | CA631723694 | INSR | c.2842+30G>T (n.2842+30G>T) c.2806+30G>T (n.2806+30G>T) c.2920+30G>T (n.2920+30G>T) c.2884+30G>T (n.2884+30G>T) | dbSNP gnomAD v2 |
19 | g.7132128C= | CA2320771036 | INSR | c.2842+30G= (n.2842+30G=) c.2806+30G= (n.2806+30G=) c.2920+30G= (n.2920+30G=) c.2884+30G= (n.2884+30G=) | |
19 | g.7132129A>C | CA2587922721 | INSR | c.2842+29T>G (n.2842+29T>G) c.2806+29T>G (n.2806+29T>G) c.2920+29T>G (n.2920+29T>G) c.2884+29T>G (n.2884+29T>G) | gnomAD v4 |
19 | g.7132130G>T | CA2576595102 | INSR | c.2842+28C>A (n.2842+28C>A) c.2806+28C>A (n.2806+28C>A) c.2920+28C>A (n.2920+28C>A) c.2884+28C>A (n.2884+28C>A) | gnomAD v4 |
19 | g.7132131T>C | CA2735472788 | INSR | c.2842+27A>G (n.2842+27A>G) c.2806+27A>G (n.2806+27A>G) c.2920+27A>G (n.2920+27A>G) c.2884+27A>G (n.2884+27A>G) | dbSNP |
19 | g.7132132C>T | CA2587922722 | INSR | c.2842+26G>A (n.2842+26G>A) c.2806+26G>A (n.2806+26G>A) c.2920+26G>A (n.2920+26G>A) c.2884+26G>A (n.2884+26G>A) | gnomAD v4 |
19 | g.7132134G>A | CA304878316 | INSR | c.2842+24C>T (n.2842+24C>T) c.2806+24C>T (n.2806+24C>T) c.2920+24C>T (n.2920+24C>T) c.2884+24C>T (n.2884+24C>T) | dbSNP |
19 | g.7132134G>C | CA2587922723 | INSR | c.2842+24C>G (n.2842+24C>G) c.2806+24C>G (n.2806+24C>G) c.2920+24C>G (n.2920+24C>G) c.2884+24C>G (n.2884+24C>G) | gnomAD v4 |
19 | g.7132134G= | CA2320771037 | INSR | c.2842+24C= (n.2842+24C=) c.2806+24C= (n.2806+24C=) c.2920+24C= (n.2920+24C=) c.2884+24C= (n.2884+24C=) | |
19 | g.7132136T>C | CA2587922724 | INSR | c.2842+22A>G (n.2842+22A>G) c.2806+22A>G (n.2806+22A>G) c.2920+22A>G (n.2920+22A>G) c.2884+22A>G (n.2884+22A>G) | gnomAD v4 |
19 | g.7132136T>G | CA2576595103 | INSR | c.2842+22A>C (n.2842+22A>C) c.2806+22A>C (n.2806+22A>C) c.2920+22A>C (n.2920+22A>C) c.2884+22A>C (n.2884+22A>C) | gnomAD v4 |
19 | g.7132137G>A | CA631723695 | INSR | c.2842+21C>T (n.2842+21C>T) c.2806+21C>T (n.2806+21C>T) c.2920+21C>T (n.2920+21C>T) c.2884+21C>T (n.2884+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132137G= | CA2320771038 | INSR | c.2842+21C= (n.2842+21C=) c.2806+21C= (n.2806+21C=) c.2920+21C= (n.2920+21C=) c.2884+21C= (n.2884+21C=) | |
19 | g.7132138A>G | CA2576595104 | INSR | c.2842+20T>C (n.2842+20T>C) c.2806+20T>C (n.2806+20T>C) c.2920+20T>C (n.2920+20T>C) c.2884+20T>C (n.2884+20T>C) | |
19 | g.7132139G>C | CA9135442 | INSR | c.2842+19C>G (n.2842+19C>G) c.2806+19C>G (n.2806+19C>G) c.2920+19C>G (n.2920+19C>G) c.2884+19C>G (n.2884+19C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132139G= | CA2320771039 | INSR | c.2842+19C= (n.2842+19C=) c.2806+19C= (n.2806+19C=) c.2920+19C= (n.2920+19C=) c.2884+19C= (n.2884+19C=) | |
19 | g.7132141C= | CA2320771040 | INSR | c.2842+17G= (n.2842+17G=) c.2806+17G= (n.2806+17G=) c.2920+17G= (n.2920+17G=) c.2884+17G= (n.2884+17G=) | |
19 | g.7132141C>G | CA2587922725 | INSR | c.2842+17G>C (n.2842+17G>C) c.2806+17G>C (n.2806+17G>C) c.2920+17G>C (n.2920+17G>C) c.2884+17G>C (n.2884+17G>C) | gnomAD v4 |
19 | g.7132141C>T | CA631723696 | INSR | c.2842+17G>A (n.2842+17G>A) c.2806+17G>A (n.2806+17G>A) c.2920+17G>A (n.2920+17G>A) c.2884+17G>A (n.2884+17G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132143dup | CA2587922726 | INSR | c.2842+15dup (n.2842+15dup) c.2806+15dup (n.2806+15dup) c.2920+15dup (n.2920+15dup) c.2884+15dup (n.2884+15dup) | gnomAD v4 |
19 | g.7132144C>T | CA2587922727 | INSR | c.2842+14G>A (n.2842+14G>A) c.2806+14G>A (n.2806+14G>A) c.2920+14G>A (n.2920+14G>A) c.2884+14G>A (n.2884+14G>A) | gnomAD v4 |
19 | g.7132145C>A | CA2541359340 | INSR | c.2842+13G>T (n.2842+13G>T) c.2806+13G>T (n.2806+13G>T) c.2920+13G>T (n.2920+13G>T) c.2884+13G>T (n.2884+13G>T) | |
19 | g.7132146A= | CA2320771041 | INSR | c.2842+12T= (n.2842+12T=) c.2806+12T= (n.2806+12T=) c.2920+12T= (n.2920+12T=) c.2884+12T= (n.2884+12T=) | |
19 | g.7132146A>C | CA2587922728 | INSR | c.2842+12T>G (n.2842+12T>G) c.2806+12T>G (n.2806+12T>G) c.2920+12T>G (n.2920+12T>G) c.2884+12T>G (n.2884+12T>G) | gnomAD v4 |
19 | g.7132146A>G | CA993109843 | INSR | c.2842+12T>C (n.2842+12T>C) c.2806+12T>C (n.2806+12T>C) c.2920+12T>C (n.2920+12T>C) c.2884+12T>C (n.2884+12T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132147T>C | CA2587922729 | INSR | c.2842+11A>G (n.2842+11A>G) c.2806+11A>G (n.2806+11A>G) c.2920+11A>G (n.2920+11A>G) c.2884+11A>G (n.2884+11A>G) | gnomAD v4 |
19 | g.7132147T>G | CA2587922730 | INSR | c.2842+11A>C (n.2842+11A>C) c.2806+11A>C (n.2806+11A>C) c.2920+11A>C (n.2920+11A>C) c.2884+11A>C (n.2884+11A>C) | gnomAD v4 |
19 | g.7132148G>A | CA993109845 | INSR | c.2842+10C>T (n.2842+10C>T) c.2806+10C>T (n.2806+10C>T) c.2920+10C>T (n.2920+10C>T) c.2884+10C>T (n.2884+10C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132148G= | CA2320771042 | INSR | c.2842+10C= (n.2842+10C=) c.2806+10C= (n.2806+10C=) c.2920+10C= (n.2920+10C=) c.2884+10C= (n.2884+10C=) | |
19 | g.7132148G>T | CA2587922731 | INSR | c.2842+10C>A (n.2842+10C>A) c.2806+10C>A (n.2806+10C>A) c.2920+10C>A (n.2920+10C>A) c.2884+10C>A (n.2884+10C>A) | gnomAD v4 |
19 | g.7132149G>C | CA2320771044 | INSR | c.2842+9C>G (n.2842+9C>G) c.2806+9C>G (n.2806+9C>G) c.2920+9C>G (n.2920+9C>G) c.2884+9C>G (n.2884+9C>G) | dbSNP |
19 | g.7132149G= | CA2320771043 | INSR | c.2842+9C= (n.2842+9C=) c.2806+9C= (n.2806+9C=) c.2920+9C= (n.2920+9C=) c.2884+9C= (n.2884+9C=) | |
19 | g.7132152A= | CA2320771045 | INSR | c.2842+6T= (n.2842+6T=) c.2806+6T= (n.2806+6T=) c.2920+6T= (n.2920+6T=) c.2884+6T= (n.2884+6T=) | |
19 | g.7132152A>G | CA2576595105 | INSR | c.2842+6T>C (n.2842+6T>C) c.2806+6T>C (n.2806+6T>C) c.2920+6T>C (n.2920+6T>C) c.2884+6T>C (n.2884+6T>C) | |
19 | g.7132152A>T | CA9135443 | INSR | c.2842+6T>A (n.2842+6T>A) c.2806+6T>A (n.2806+6T>A) c.2920+6T>A (n.2920+6T>A) c.2884+6T>A (n.2884+6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132153C= | CA2320771046 | INSR | c.2842+5G= (n.2842+5G=) c.2806+5G= (n.2806+5G=) c.2920+5G= (n.2920+5G=) c.2884+5G= (n.2884+5G=) | |
19 | g.7132153C>T | CA631723697 | INSR | c.2842+5G>A (n.2842+5G>A) c.2806+5G>A (n.2806+5G>A) c.2920+5G>A (n.2920+5G>A) c.2884+5G>A (n.2884+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132154T>A | CA9135444 | INSR | c.2842+4A>T (n.2842+4A>T) c.2806+4A>T (n.2806+4A>T) c.2920+4A>T (n.2920+4A>T) c.2884+4A>T (n.2884+4A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132154T= | CA2320771047 | INSR | c.2842+4A= (n.2842+4A=) c.2806+4A= (n.2806+4A=) c.2920+4A= (n.2920+4A=) c.2884+4A= (n.2884+4A=) | |
19 | g.7132155T>C | CA631723698 | INSR | c.2842+3A>G (n.2842+3A>G) c.2806+3A>G (n.2806+3A>G) c.2920+3A>G (n.2920+3A>G) c.2884+3A>G (n.2884+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132155T>G | CA2576595106 | INSR | c.2842+3A>C (n.2842+3A>C) c.2806+3A>C (n.2806+3A>C) c.2920+3A>C (n.2920+3A>C) c.2884+3A>C (n.2884+3A>C) | |
19 | g.7132155T= | CA2320771048 | INSR | c.2842+3A= (n.2842+3A=) c.2806+3A= (n.2806+3A=) c.2920+3A= (n.2920+3A=) c.2884+3A= (n.2884+3A=) | |
19 | g.7132156A>C | CA403671889 | INSR | c.2842+2T>G (n.2842+2T>G) c.2806+2T>G (n.2806+2T>G) c.2920+2T>G (n.2920+2T>G) c.2884+2T>G (n.2884+2T>G) | |
19 | g.7132156A>G | CA403671890 | INSR | c.2842+2T>C (n.2842+2T>C) c.2806+2T>C (n.2806+2T>C) c.2920+2T>C (n.2920+2T>C) c.2884+2T>C (n.2884+2T>C) | |
19 | g.7132156A>T | CA403671891 | INSR | c.2842+2T>A (n.2842+2T>A) c.2806+2T>A (n.2806+2T>A) c.2920+2T>A (n.2920+2T>A) c.2884+2T>A (n.2884+2T>A) | |
19 | g.7132157C>A | CA403671892 | INSR | c.2842+1G>T (n.2842+1G>T) c.2806+1G>T (n.2806+1G>T) c.2920+1G>T (n.2920+1G>T) c.2884+1G>T (n.2884+1G>T) | |
19 | g.7132157C>G | CA403671893 | INSR | c.2842+1G>C (n.2842+1G>C) c.2806+1G>C (n.2806+1G>C) c.2920+1G>C (n.2920+1G>C) c.2884+1G>C (n.2884+1G>C) | |
19 | g.7132157C>T | CA403671894 | INSR | c.2842+1G>A (n.2842+1G>A) c.2806+1G>A (n.2806+1G>A) c.2920+1G>A (n.2920+1G>A) c.2884+1G>A (n.2884+1G>A) | |
19 | g.7132158A>C | CA403671895 | INSR | c.2842T>G (p.Leu948Val) c.2806T>G (p.Leu936Val) c.2920T>G (p.Tyr974Asp) c.2884T>G (p.Tyr962Asp) c.2842T>G (p.Tyr948Asp) c.2806T>G (p.Tyr936Asp) | |
19 | g.7132158A>G | CA505217438 | INSR | c.2842T>C (p.Leu948=) c.2806T>C (p.Leu936=) c.2920T>C (p.Tyr974His) c.2884T>C (p.Tyr962His) c.2842T>C (p.Tyr948His) c.2806T>C (p.Tyr936His) | |
19 | g.7132158A>T | CA403671896 | INSR | c.2842T>A (p.Leu948Ile) c.2806T>A (p.Leu936Ile) c.2920T>A (p.Tyr974Asn) c.2884T>A (p.Tyr962Asn) c.2842T>A (p.Tyr948Asn) c.2806T>A (p.Tyr936Asn) | |
19 | g.7132159A>C | CA403671897 | INSR | c.2841T>G (p.Tyr947Ter) c.2805T>G (p.Tyr935Ter) c.2919T>G (p.Tyr973Ter) c.2883T>G (p.Tyr961Ter) | |
19 | g.7132159A>G | CA505217439 | INSR | c.2841T>C (p.Tyr947=) c.2805T>C (p.Tyr935=) c.2919T>C (p.Tyr973=) c.2883T>C (p.Tyr961=) | |
19 | g.7132159A>T | CA403671898 | INSR | c.2841T>A (p.Tyr947Ter) c.2805T>A (p.Tyr935Ter) c.2919T>A (p.Tyr973Ter) c.2883T>A (p.Tyr961Ter) | |
19 | g.7132160T>A | CA403671899 | INSR | c.2840A>T (p.Tyr947Phe) c.2804A>T (p.Tyr935Phe) c.2918A>T (p.Tyr973Phe) c.2882A>T (p.Tyr961Phe) | |
19 | g.7132160T>C | CA403671900 | INSR | c.2840A>G (p.Tyr947Cys) c.2804A>G (p.Tyr935Cys) c.2918A>G (p.Tyr973Cys) c.2882A>G (p.Tyr961Cys) | |
19 | g.7132160T>G | CA403671901 | INSR | c.2840A>C (p.Tyr947Ser) c.2804A>C (p.Tyr935Ser) c.2918A>C (p.Tyr973Ser) c.2882A>C (p.Tyr961Ser) | |
19 | g.7132161A>C | CA403671902 | INSR | c.2839T>G (p.Tyr947Asp) c.2803T>G (p.Tyr935Asp) c.2917T>G (p.Tyr973Asp) c.2881T>G (p.Tyr961Asp) | |
19 | g.7132161A>G | CA403671903 | INSR | c.2839T>C (p.Tyr947His) c.2803T>C (p.Tyr935His) c.2917T>C (p.Tyr973His) c.2881T>C (p.Tyr961His) | |
19 | g.7132161A>T | CA403671904 | INSR | c.2839T>A (p.Tyr947Asn) c.2803T>A (p.Tyr935Asn) c.2917T>A (p.Tyr973Asn) c.2881T>A (p.Tyr961Asn) | |
19 | g.7132162G>A | CA505217440 | INSR | c.2838C>T (p.Asp946=) c.2802C>T (p.Asp934=) c.2916C>T (p.Asp972=) c.2880C>T (p.Asp960=) | |
19 | g.7132162G>C | CA208959 | INSR | c.2838C>G (p.Asp946Glu) c.2802C>G (p.Asp934Glu) c.2916C>G (p.Asp972Glu) c.2880C>G (p.Asp960Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132162G= | CA2320771049 | INSR | c.2838C= (p.Asp946=) c.2802C= (p.Asp934=) c.2916C= (p.Asp972=) c.2880C= (p.Asp960=) | |
19 | g.7132162G>T | CA403671905 | INSR | c.2838C>A (p.Asp946Glu) c.2802C>A (p.Asp934Glu) c.2916C>A (p.Asp972Glu) c.2880C>A (p.Asp960Glu) | |
19 | g.7132163T>A | CA403671906 | INSR | c.2837A>T (p.Asp946Val) c.2801A>T (p.Asp934Val) c.2915A>T (p.Asp972Val) c.2879A>T (p.Asp960Val) | gnomAD v4 |
19 | g.7132163T>C | CA403671907 | INSR | c.2837A>G (p.Asp946Gly) c.2801A>G (p.Asp934Gly) c.2915A>G (p.Asp972Gly) c.2879A>G (p.Asp960Gly) | |
19 | g.7132163T>G | CA403671908 | INSR | c.2837A>C (p.Asp946Ala) c.2801A>C (p.Asp934Ala) c.2915A>C (p.Asp972Ala) c.2879A>C (p.Asp960Ala) | |
19 | g.7132164C>A | CA403671910 | INSR | c.2836G>T (p.Asp946Tyr) c.2800G>T (p.Asp934Tyr) c.2914G>T (p.Asp972Tyr) c.2878G>T (p.Asp960Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132164C= | CA2320771050 | INSR | c.2836G= (p.Asp946=) c.2800G= (p.Asp934=) c.2914G= (p.Asp972=) c.2878G= (p.Asp960=) | |
19 | g.7132164C>G | CA403671911 | INSR | c.2836G>C (p.Asp946His) c.2800G>C (p.Asp934His) c.2914G>C (p.Asp972His) c.2878G>C (p.Asp960His) | |
19 | g.7132164C>T | CA403671909 | INSR | c.2836G>A (p.Asp946Asn) c.2800G>A (p.Asp934Asn) c.2914G>A (p.Asp972Asn) c.2878G>A (p.Asp960Asn) | COSMIC COSMIC |
19 | g.7132165T>A | CA505217441 | INSR | c.2835A>T (p.Thr945=) c.2799A>T (p.Thr933=) c.2913A>T (p.Thr971=) c.2877A>T (p.Thr959=) | |
19 | g.7132165T>C | CA505217442 | INSR | c.2835A>G (p.Thr945=) c.2799A>G (p.Thr933=) c.2913A>G (p.Thr971=) c.2877A>G (p.Thr959=) | |
19 | g.7132165T>G | CA505217443 | INSR | c.2835A>C (p.Thr945=) c.2799A>C (p.Thr933=) c.2913A>C (p.Thr971=) c.2877A>C (p.Thr959=) | |
19 | g.7132166G>A | CA403671912 | INSR | c.2834C>T (p.Thr945Ile) c.2798C>T (p.Thr933Ile) c.2912C>T (p.Thr971Ile) c.2876C>T (p.Thr959Ile) | gnomAD v4 |
19 | g.7132166G>C | CA403671913 | INSR | c.2834C>G (p.Thr945Arg) c.2798C>G (p.Thr933Arg) c.2912C>G (p.Thr971Arg) c.2876C>G (p.Thr959Arg) | |
19 | g.7132166G>T | CA403671914 | INSR | c.2834C>A (p.Thr945Lys) c.2798C>A (p.Thr933Lys) c.2912C>A (p.Thr971Lys) c.2876C>A (p.Thr959Lys) | |
19 | g.7132167T>A | CA403671915 | INSR | c.2833A>T (p.Thr945Ser) c.2797A>T (p.Thr933Ser) c.2911A>T (p.Thr971Ser) c.2875A>T (p.Thr959Ser) | gnomAD v4 |
19 | g.7132167T>C | CA403671916 | INSR | c.2833A>G (p.Thr945Ala) c.2797A>G (p.Thr933Ala) c.2911A>G (p.Thr971Ala) c.2875A>G (p.Thr959Ala) | gnomAD v4 |
19 | g.7132167T>G | CA403671917 | INSR | c.2833A>C (p.Thr945Pro) c.2797A>C (p.Thr933Pro) c.2911A>C (p.Thr971Pro) c.2875A>C (p.Thr959Pro) | |
19 | g.7132168C>A | CA505217445 | INSR | c.2832G>T (p.Val944=) c.2796G>T (p.Val932=) c.2910G>T (p.Val970=) c.2874G>T (p.Val958=) | gnomAD v4 |
19 | g.7132168C= | CA2320771051 | INSR | c.2832G= (p.Val944=) c.2796G= (p.Val932=) c.2910G= (p.Val970=) c.2874G= (p.Val958=) | |
19 | g.7132168C>G | CA505217444 | INSR | c.2832G>C (p.Val944=) c.2796G>C (p.Val932=) c.2910G>C (p.Val970=) c.2874G>C (p.Val958=) | dbSNP gnomAD v2 |
19 | g.7132168C>T | CA9135445 | INSR | c.2832G>A (p.Val944=) c.2796G>A (p.Val932=) c.2910G>A (p.Val970=) c.2874G>A (p.Val958=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132169A>C | CA403671918 | INSR | c.2831T>G (p.Val944Gly) c.2795T>G (p.Val932Gly) c.2909T>G (p.Val970Gly) c.2873T>G (p.Val958Gly) | |
19 | g.7132169A>G | CA403671919 | INSR | c.2831T>C (p.Val944Ala) c.2795T>C (p.Val932Ala) c.2909T>C (p.Val970Ala) c.2873T>C (p.Val958Ala) | |
19 | g.7132169A>T | CA403671920 | INSR | c.2831T>A (p.Val944Glu) c.2795T>A (p.Val932Glu) c.2909T>A (p.Val970Glu) c.2873T>A (p.Val958Glu) | |
19 | g.7132170C>A | CA403671921 | INSR | c.2830G>T (p.Val944Leu) c.2794G>T (p.Val932Leu) c.2908G>T (p.Val970Leu) c.2872G>T (p.Val958Leu) | |
19 | g.7132170C= | CA2320771052 | INSR | c.2830G= (p.Val944=) c.2794G= (p.Val932=) c.2908G= (p.Val970=) c.2872G= (p.Val958=) | |
19 | g.7132170C>G | CA403671922 | INSR | c.2830G>C (p.Val944Leu) c.2794G>C (p.Val932Leu) c.2908G>C (p.Val970Leu) c.2872G>C (p.Val958Leu) | ClinVar |
19 | g.7132170C>T | CA9135446 | INSR | c.2830G>A (p.Val944Met) c.2794G>A (p.Val932Met) c.2908G>A (p.Val970Met) c.2872G>A (p.Val958Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132171G>A | CA9135447 | INSR | c.2829C>T (p.Tyr943=) c.2793C>T (p.Tyr931=) c.2907C>T (p.Tyr969=) c.2871C>T (p.Tyr957=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7132171G>C | CA403671924 | INSR | c.2829C>G (p.Tyr943Ter) c.2793C>G (p.Tyr931Ter) c.2907C>G (p.Tyr969Ter) c.2871C>G (p.Tyr957Ter) | |
19 | g.7132171G= | CA2320771053 | INSR | c.2829C= (p.Tyr943=) c.2793C= (p.Tyr931=) c.2907C= (p.Tyr969=) c.2871C= (p.Tyr957=) | |
19 | g.7132171G>T | CA403671923 | INSR | c.2829C>A (p.Tyr943Ter) c.2793C>A (p.Tyr931Ter) c.2907C>A (p.Tyr969Ter) c.2871C>A (p.Tyr957Ter) | |
19 | g.7132172T>A | CA403671925 | INSR | c.2828A>T (p.Tyr943Phe) c.2792A>T (p.Tyr931Phe) c.2906A>T (p.Tyr969Phe) c.2870A>T (p.Tyr957Phe) | dbSNP |
19 | g.7132172T>C | CA403671927 | INSR | c.2828A>G (p.Tyr943Cys) c.2792A>G (p.Tyr931Cys) c.2906A>G (p.Tyr969Cys) c.2870A>G (p.Tyr957Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132172T>G | CA403671926 | INSR | c.2828A>C (p.Tyr943Ser) c.2792A>C (p.Tyr931Ser) c.2906A>C (p.Tyr969Ser) c.2870A>C (p.Tyr957Ser) | |
19 | g.7132172T= | CA2320771054 | INSR | c.2828A= (p.Tyr943=) c.2792A= (p.Tyr931=) c.2906A= (p.Tyr969=) c.2870A= (p.Tyr957=) | |
19 | g.7132173A>C | CA403671928 | INSR | c.2827T>G (p.Tyr943Asp) c.2791T>G (p.Tyr931Asp) c.2905T>G (p.Tyr969Asp) c.2869T>G (p.Tyr957Asp) | gnomAD v4 |
19 | g.7132173A>G | CA403671929 | INSR | c.2827T>C (p.Tyr943His) c.2791T>C (p.Tyr931His) c.2905T>C (p.Tyr969His) c.2869T>C (p.Tyr957His) | |
19 | g.7132173A>T | CA403671930 | INSR | c.2827T>A (p.Tyr943Asn) c.2791T>A (p.Tyr931Asn) c.2905T>A (p.Tyr969Asn) c.2869T>A (p.Tyr957Asn) | |
19 | g.7132174G>A | CA505217446 | INSR | c.2826C>T (p.Phe942=) c.2790C>T (p.Phe930=) c.2904C>T (p.Phe968=) c.2868C>T (p.Phe956=) | gnomAD v4 |
19 | g.7132174G>C | CA304878369 | INSR | c.2826C>G (p.Phe942Leu) c.2790C>G (p.Phe930Leu) c.2904C>G (p.Phe968Leu) c.2868C>G (p.Phe956Leu) | dbSNP |
19 | g.7132174G= | CA2320771055 | INSR | c.2826C= (p.Phe942=) c.2790C= (p.Phe930=) c.2904C= (p.Phe968=) c.2868C= (p.Phe956=) | |
19 | g.7132174G>T | CA403671931 | INSR | c.2826C>A (p.Phe942Leu) c.2790C>A (p.Phe930Leu) c.2904C>A (p.Phe968Leu) c.2868C>A (p.Phe956Leu) | |
19 | g.7132175A>C | CA403671932 | INSR | c.2825T>G (p.Phe942Cys) c.2789T>G (p.Phe930Cys) c.2903T>G (p.Phe968Cys) c.2867T>G (p.Phe956Cys) | |
19 | g.7132175A>G | CA403671933 | INSR | c.2825T>C (p.Phe942Ser) c.2789T>C (p.Phe930Ser) c.2903T>C (p.Phe968Ser) c.2867T>C (p.Phe956Ser) | |
19 | g.7132175A>T | CA403671934 | INSR | c.2825T>A (p.Phe942Tyr) c.2789T>A (p.Phe930Tyr) c.2903T>A (p.Phe968Tyr) c.2867T>A (p.Phe956Tyr) | |
19 | g.7132176A>C | CA403671935 | INSR | c.2824T>G (p.Phe942Val) c.2788T>G (p.Phe930Val) c.2902T>G (p.Phe968Val) c.2866T>G (p.Phe956Val) | |
19 | g.7132176A>G | CA403671936 | INSR | c.2824T>C (p.Phe942Leu) c.2788T>C (p.Phe930Leu) c.2902T>C (p.Phe968Leu) c.2866T>C (p.Phe956Leu) | gnomAD v4 |
19 | g.7132176A>T | CA403671937 | INSR | c.2824T>A (p.Phe942Ile) c.2788T>A (p.Phe930Ile) c.2902T>A (p.Phe968Ile) c.2866T>A (p.Phe956Ile) | |
19 | g.7132177A>C | CA403671938 | INSR | c.2823T>G (p.Tyr941Ter) c.2787T>G (p.Tyr929Ter) c.2901T>G (p.Tyr967Ter) c.2865T>G (p.Tyr955Ter) | |
19 | g.7132177A>G | CA505217447 | INSR | c.2823T>C (p.Tyr941=) c.2787T>C (p.Tyr929=) c.2901T>C (p.Tyr967=) c.2865T>C (p.Tyr955=) | |
19 | g.7132177A>T | CA403671939 | INSR | c.2823T>A (p.Tyr941Ter) c.2787T>A (p.Tyr929Ter) c.2901T>A (p.Tyr967Ter) c.2865T>A (p.Tyr955Ter) | |
19 | g.7132178T>A | CA403671940 | INSR | c.2822A>T (p.Tyr941Phe) c.2786A>T (p.Tyr929Phe) c.2900A>T (p.Tyr967Phe) c.2864A>T (p.Tyr955Phe) | |
19 | g.7132178T>C | CA403671942 | INSR | c.2822A>G (p.Tyr941Cys) c.2786A>G (p.Tyr929Cys) c.2900A>G (p.Tyr967Cys) c.2864A>G (p.Tyr955Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132178T>G | CA403671941 | INSR | c.2822A>C (p.Tyr941Ser) c.2786A>C (p.Tyr929Ser) c.2900A>C (p.Tyr967Ser) c.2864A>C (p.Tyr955Ser) | |
19 | g.7132178T= | CA2320771056 | INSR | c.2822A= (p.Tyr941=) c.2786A= (p.Tyr929=) c.2900A= (p.Tyr967=) c.2864A= (p.Tyr955=) | |
19 | g.7132179A>C | CA403671943 | INSR | c.2821T>G (p.Tyr941Asp) c.2785T>G (p.Tyr929Asp) c.2899T>G (p.Tyr967Asp) c.2863T>G (p.Tyr955Asp) | |
19 | g.7132179A>G | CA403671944 | INSR | c.2821T>C (p.Tyr941His) c.2785T>C (p.Tyr929His) c.2899T>C (p.Tyr967His) c.2863T>C (p.Tyr955His) | |
19 | g.7132179A>T | CA403671945 | INSR | c.2821T>A (p.Tyr941Asn) c.2785T>A (p.Tyr929Asn) c.2899T>A (p.Tyr967Asn) c.2863T>A (p.Tyr955Asn) | gnomAD v4 |
19 | g.7132180G>A | CA505217448 | INSR | c.2820C>T (p.Thr940=) c.2784C>T (p.Thr928=) c.2898C>T (p.Thr966=) c.2862C>T (p.Thr954=) | |
19 | g.7132180G>C | CA505217449 | INSR | c.2820C>G (p.Thr940=) c.2784C>G (p.Thr928=) c.2898C>G (p.Thr966=) c.2862C>G (p.Thr954=) | gnomAD v4 |
19 | g.7132180G>T | CA505217450 | INSR | c.2820C>A (p.Thr940=) c.2784C>A (p.Thr928=) c.2898C>A (p.Thr966=) c.2862C>A (p.Thr954=) | |
19 | g.7132181G>A | CA403671946 | INSR | c.2819C>T (p.Thr940Ile) c.2783C>T (p.Thr928Ile) c.2897C>T (p.Thr966Ile) c.2861C>T (p.Thr954Ile) | |
19 | g.7132181G>C | CA403671947 | INSR | c.2819C>G (p.Thr940Ser) c.2783C>G (p.Thr928Ser) c.2897C>G (p.Thr966Ser) c.2861C>G (p.Thr954Ser) | |
19 | g.7132181G>T | CA403671948 | INSR | c.2819C>A (p.Thr940Asn) c.2783C>A (p.Thr928Asn) c.2897C>A (p.Thr966Asn) c.2861C>A (p.Thr954Asn) | |
19 | g.7132182T>A | CA403671949 | INSR | c.2818A>T (p.Thr940Ser) c.2782A>T (p.Thr928Ser) c.2896A>T (p.Thr966Ser) c.2860A>T (p.Thr954Ser) | |
19 | g.7132182T>C | CA403671950 | INSR | c.2818A>G (p.Thr940Ala) c.2782A>G (p.Thr928Ala) c.2896A>G (p.Thr966Ala) c.2860A>G (p.Thr954Ala) | |
19 | g.7132182T>G | CA403671951 | INSR | c.2818A>C (p.Thr940Pro) c.2782A>C (p.Thr928Pro) c.2896A>C (p.Thr966Pro) c.2860A>C (p.Thr954Pro) | |
19 | g.7132183G>A | CA505217453 | INSR | c.2817C>T (p.Pro939=) c.2781C>T (p.Pro927=) c.2895C>T (p.Pro965=) c.2859C>T (p.Pro953=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132183G>C | CA505217451 | INSR | c.2817C>G (p.Pro939=) c.2781C>G (p.Pro927=) c.2895C>G (p.Pro965=) c.2859C>G (p.Pro953=) | |
19 | g.7132183G= | CA2320771057 | INSR | c.2817C= (p.Pro939=) c.2781C= (p.Pro927=) c.2895C= (p.Pro965=) c.2859C= (p.Pro953=) | |
19 | g.7132183G>T | CA505217452 | INSR | c.2817C>A (p.Pro939=) c.2781C>A (p.Pro927=) c.2895C>A (p.Pro965=) c.2859C>A (p.Pro953=) | |
19 | g.7132184G>A | CA403671954 | INSR | c.2816C>T (p.Pro939Leu) c.2780C>T (p.Pro927Leu) c.2894C>T (p.Pro965Leu) c.2858C>T (p.Pro953Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132184G>C | CA403671953 | INSR | c.2816C>G (p.Pro939Arg) c.2780C>G (p.Pro927Arg) c.2894C>G (p.Pro965Arg) c.2858C>G (p.Pro953Arg) | |
19 | g.7132184G= | CA2320771058 | INSR | c.2816C= (p.Pro939=) c.2780C= (p.Pro927=) c.2894C= (p.Pro965=) c.2858C= (p.Pro953=) | |
19 | g.7132184G>T | CA403671952 | INSR | c.2816C>A (p.Pro939His) c.2780C>A (p.Pro927His) c.2894C>A (p.Pro965His) c.2858C>A (p.Pro953His) | gnomAD v4 |
19 | g.7132185G>A | CA403671955 | INSR | c.2815C>T (p.Pro939Ser) c.2779C>T (p.Pro927Ser) c.2893C>T (p.Pro965Ser) c.2857C>T (p.Pro953Ser) | |
19 | g.7132185G>C | CA403671956 | INSR | c.2815C>G (p.Pro939Ala) c.2779C>G (p.Pro927Ala) c.2893C>G (p.Pro965Ala) c.2857C>G (p.Pro953Ala) | |
19 | g.7132185G= | CA2320771059 | INSR | c.2815C= (p.Pro939=) c.2779C= (p.Pro927=) c.2893C= (p.Pro965=) c.2857C= (p.Pro953=) | |
19 | g.7132185G>T | CA403671957 | INSR | c.2815C>A (p.Pro939Thr) c.2779C>A (p.Pro927Thr) c.2893C>A (p.Pro965Thr) c.2857C>A (p.Pro953Thr) | dbSNP |